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  • 151.
    Nielsen, Rasmus
    et al.
    Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA.;Univ Calif Berkeley, Dept Stat, Berkeley, CA USA.;Univ Copenhagen, Ctr GeoGenet, Nat Hist Museum Denmark, DK-1350 Copenhagen K, Denmark..
    Akey, Joshua M.
    Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA..
    Jakobsson, Mattias
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Pritchard, Jonathan K.
    Stanford Univ, Dept Genet, Stanford, CA 94305 USA.;Stanford Univ, Dept Biol, Stanford, CA 94305 USA.;Stanford Univ, Howard Hughes Med Inst, Stanford, CA 94305 USA..
    Tishkoff, Sarah
    Univ Penn, Dept Genet, Philadelphia, PA 19104 USA.;Univ Penn, Dept Biol, Philadelphia, PA 19104 USA..
    Willerslev, Eske
    Univ Copenhagen, Ctr GeoGenet, Nat Hist Museum Denmark, DK-1350 Copenhagen K, Denmark.;Univ Cambridge, Dept Zool, Cambridge CB2 3EJ, England.;Wellcome Trust Sanger Inst, Wellcome Genome Campus, Cambridge CB10 1SA, England..
    Tracing the peopling of the world through genomics2017Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 541, nr 7637, s. 302-310Artikkel, forskningsoversikt (Fagfellevurdert)
    Abstract [en]

    Advances in the sequencing and the analysis of the genomes of both modern and ancient peoples have facilitated a number of breakthroughs in our understanding of human evolutionary history. These include the discovery of interbreeding between anatomically modern humans and extinct hominins; the development of an increasingly detailed description of the complex dispersal of modern humans out of Africa and their population expansion worldwide; and the characterization of many of the genetic adaptions of humans to local environmental conditions. Our interpretation of the evolutionary history and adaptation of humans is being transformed by analyses of these new genomic data.

  • 152.
    Niemiec, Emilia
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap, Centrum för forsknings- och bioetik.
    Howard, Heidi Carmen
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap, Centrum för forsknings- och bioetik.
    Include egg donors in CRISPR gene-editing debate2019Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 575, nr 7781, s. 51-51Artikkel i tidsskrift (Annet vitenskapelig)
  • 153.
    Nordquist, Lina
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk cellbiologi.
    Dabbling in science journalism2006Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 439, nr 7077, s. 760-760Artikkel, omtale (Annet (populærvitenskap, debatt, mm))
  • 154. Nystedt, Bjorn
    et al.
    Street, Nathaniel R.
    Wetterbom, Anna
    Zuccolo, Andrea
    Lin, Yao-Cheng
    Scofield, Douglas G.
    Vezzi, Francesco
    Delhomme, Nicolas
    Giacomello, Stefania
    Alexeyenko, Andrey
    Vicedomini, Riccardo
    Sahlin, Kristoffer
    Sherwood, Ellen
    Elfstrand, Malin
    Gramzow, Lydia
    Holmberg, Kristina
    Hallman, Jimmie
    Keech, Olivier
    Klasson, Lisa
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution.
    Koriabine, Maxim
    Kucukoglu, Melis
    Kaller, Max
    Luthman, Johannes
    Lysholm, Fredrik
    Niittyla, Totte
    Olson, Ake
    Rilakovic, Nemanja
    Ritland, Carol
    Rossello, Josep A.
    Sena, Juliana
    Svensson, Thomas
    Talavera-Lopez, Carlos
    Theissen, Guenter
    Tuominen, Hannele
    Vanneste, Kevin
    Wu, Zhi-Qiang
    Zhang, Bo
    Zerbe, Philipp
    Arvestad, Lars
    Bhalerao, Rishikesh
    Bohlmann, Joerg
    Bousquet, Jean
    Gil, Rosario Garcia
    Hvidsten, Torgeir R.
    de Jong, Pieter
    MacKay, John
    Morgante, Michele
    Ritland, Kermit
    Sundberg, Bjorn
    Thompson, Stacey Lee
    Van de Peer, Yves
    Andersson, Bjorn
    Nilsson, Ove
    Ingvarsson, Par K.
    Lundeberg, Joakim
    Jansson, Stefan
    The Norway spruce genome sequence and conifer genome evolution2013Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 497, nr 7451, s. 579-584Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Conifers have dominated forests for more than 200 million years and are of huge ecological and economic importance. Here we present the draft assembly of the 20-gigabase genome of Norway spruce (Picea abies), the first available for any gymnosperm. The number of well-supported genes (28,354) is similar to the >100 times smaller genome of Arabidopsis thaliana, and there is no evidence of a recent whole-genome duplication in the gymnosperm lineage. Instead, the large genome size seems to result from the slow and steady accumulation of a diverse set of long-terminal repeat transposable elements, possibly owing to the lack of an efficient elimination mechanism. Comparative sequencing of Pinus sylvestris, Abies sibirica, Juniperus communis, Taxus baccata and Gnetum gnemon reveals that the transposable element diversity is shared among extant conifers. Expression of 24-nucleotide small RNAs, previously implicated in transposable element silencing, is tissue-specific and much lower than in other plants. We further identify numerous long (>10,000 base pairs) introns, gene-like fragments, uncharacterized long non-coding RNAs and short RNAs. This opens up new genomic avenues for conifer forestry and breeding.

  • 155.
    Okbay, Aysu
    et al.
    Erasmus Univ, Erasmus Sch Econ, Dept Appl Econ, NL-3062 PA Rotterdam, Netherlands.;Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands..
    Beauchamp, Jonathan P.
    Harvard Univ, Dept Econ, Cambridge, MA 02138 USA..
    Fontana, Mark Alan
    Univ So Calif, Ctr Econ & Social Res, Los Angeles, CA 90089 USA..
    Lee, James J.
    Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USA..
    Pers, Tune H.
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA.;Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Sect Metab Genet, DK-2100 Copenhagen, Denmark.;Statens Serum Inst, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark..
    Rietveld, Cornelius A.
    Erasmus Univ, Erasmus Sch Econ, Dept Appl Econ, NL-3062 PA Rotterdam, Netherlands.;Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands..
    Turley, Patrick
    Harvard Univ, Dept Econ, Cambridge, MA 02138 USA..
    Chen, Guo-Bo
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia..
    Emilsson, Valur
    Iceland Heart Assoc, IS-201 Kopavogur, Iceland.;Univ Iceland, Fac Pharmaceut Sci, IS-107 Reykjavik, Iceland..
    Meddens, S. Fleur W.
    Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands.;Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Complex Trait Genet, NL-1081 HV Amsterdam, Netherlands.;Univ Amsterdam, Amsterdam Business Sch, NL-1018 TV Amsterdam, Netherlands..
    Oskarsson, Sven
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Statsvetenskapliga institutionen.
    Pickrell, Joseph K.
    New York Genome Ctr, New York, NY 10013 USA..
    Thom, Kevin
    NYU, Dept Econ, New York, NY 10003 USA..
    Timshel, Pascal
    Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Tech Univ Denmark, Ctr Biol Sequence Anal, Dept Syst Biol, DK-2800 Lyngby, Denmark..
    de Vlaming, Ronald
    Erasmus Univ, Erasmus Sch Econ, Dept Appl Econ, NL-3062 PA Rotterdam, Netherlands.;Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands..
    Abdellaoui, Abdel
    Vrije Univ Amsterdam, Dept Biol Psychol, NL-1081 BT Amsterdam, Netherlands..
    Ahluwalia, Tarunveer S.
    Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Sect Metab Genet, DK-2100 Copenhagen, Denmark.;Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, DK-2820 Copenhagen, Denmark.;Steno Diabet Ctr, DK-2820 Gentofte, Denmark..
    Bacelis, Jonas
    Sahlgrens Acad, Inst Clin Sci, Dept Obstet & Gynecol, S-41685 Gothenburg, Sweden..
    Baumbach, Clemens
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany.;German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 2, D-85764 Neuherberg, Germany..
    Bjornsdottir, Gyda
    Brandsma, Johannes H.
    Erasmus MC, Dept Cell Biol, NL-3015 CN Rotterdam, Netherlands..
    Concas, Maria Pina
    Natl Res Council Italy, UOS Sassari, Ist Ric Genet & Biomed, I-07100 Sassari, Italy..
    Derringer, Jaime
    Univ Illinois, Psychol, Champaign, IL 61820 USA..
    Furlotte, Nicholas A.
    23andMe Inc, Mountain View, CA 94041 USA..
    Galesloot, Tessel E.
    Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, NL-6500 HB Nijmegen, Netherlands..
    Girotto, Giorgia
    Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy..
    Gupta, Richa
    Univ Helsinki, Dept Publ Hlth, Helsinki 00014, Finland..
    Hall, Leanne M.
    Univ Leicester, Dept Cardiovasc Sci, Leicester LE3 9QP, Leics, England.;Glenfield Gen Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester LE3 9QP, Leics, England..
    Harris, Sarah E.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland..
    Hofer, Edith
    Gen Hosp, Dept Neurol, A-8036 Graz, Austria.;Med Univ Graz, A-8036 Graz, Austria.;Gen Hosp, Inst Med Informat Stat & Documentat, A-8036 Graz, Austria..
    Horikoshi, Momoko
    Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford OX3 7LE, England.;Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England..
    Huffman, Jennifer E.
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland..
    Kaasik, Kadri
    Univ Helsinki, Inst Behav Sci, FIN-00014 Helsinki, Finland..
    Kalafati, Ioanna P.
    Harokopio Univ, Nutr & Dietet, Hlth Sci & Educ, Athens 17671, Greece..
    Karlsson, Robert
    Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden..
    Kong, Augustine
    Lahti, Jari
    Univ Helsinki, Inst Behav Sci, FIN-00014 Helsinki, Finland.;Folkhalsan Res Ctr, Helsinki 00014, Finland..
    van der Lee, Sven J.
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands..
    de Leeuw, Christiaan
    Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Complex Trait Genet, NL-1081 HV Amsterdam, Netherlands.;Radboud Univ Nijmegen, Inst Comp & Informat Sci, NL-6525 EC Nijmegen, Netherlands..
    Lind, Penelope A.
    QIMR Berghofer Med Res Inst, Quantitat Genet, Brisbane, Qld 4029, Australia..
    Lindgren, Karl-Oskar
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Statsvetenskapliga institutionen.
    Liu, Tian
    Max Planck Inst Human Dev, Lifespan Psychol, D-14195 Berlin, Germany..
    Mangino, Massimo
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England.;Guys & St Thomas Fdn Trust, NIHR Biomed Res Ctr, London SE1 7EH, England..
    Marten, Jonathan
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland..
    Mihailov, Evelin
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia..
    Miller, Michael B.
    Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USA..
    van der Most, Peter J.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, NL-9700 RB Groningen, Netherlands..
    Oldmeadow, Christopher
    Hunter Med Res Inst, Publ Hlth Stream, New Lambton, NSW 2305, Australia.;Univ Newcastle, Fac Hlth & Med, Newcastle, NSW 2300, Australia..
    Payton, Antony
    Univ Manchester, Inst Populat Hlth, Ctr Integrated Genom Med Res, Manchester M13 9PT, Lancs, England.;Univ Manchester, Sch Psychol Sci, Human Commun & Deafness, Manchester M13 9PL, Lancs, England..
    Pervjakova, Natalia
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.;THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Peyrot, Wouter J.
    Vrije Univ Amsterdam, Med Ctr, Psychiat, NL-1081 HL Amsterdam, Netherlands.;GGZ inGeest, NL-1081 HL Amsterdam, Netherlands..
    Qian, Yong
    NIA, Genet Lab, Baltimore, MD 21224 USA..
    Raitakari, Olli
    Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku 20521, Finland..
    Rueedi, Rico
    Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland.;Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland..
    Salvi, Erika
    Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy..
    Schmidt, Brge
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, D-45147 Essen, Germany..
    Schraut, Katharina E.
    Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland..
    Shi, Jianxin
    NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA..
    Smith, Albert V.
    Iceland Heart Assoc, IS-201 Kopavogur, Iceland.;Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland..
    Poot, Raymond A.
    Erasmus MC, Dept Cell Biol, NL-3015 CN Rotterdam, Netherlands..
    St Pourcain, Beate
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.;Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England..
    Teumer, Alexander
    Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany..
    Thorleifsson, Gudmar
    Verweij, Niek
    Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9700 RB Groningen, Netherlands..
    Vuckovic, Dragana
    Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy..
    Wellmann, Juergen
    Univ Munster, Inst Epidemiol & Social Med, D-48149 Munster, Germany..
    Westra, Harm-Jan
    Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Harvard Univ, Sch Med, Brigham & Womens Hosp, Div Genet,Dept Med, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Brigham & Womens Hosp, Div Rheumatol,Dept Med, Boston, MA 02115 USA.;Partners Ctr Personalized Genet Med, Boston, MA 02115 USA..
    Yang, Jingyun
    Rush Univ, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA.;Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA..
    Zhao, Wei
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Zhu, Zhihong
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia..
    Alizadeh, Behrooz Z.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, NL-9700 RB Groningen, Netherlands.;Univ Groningen, Univ Med Ctr Groningen, Dept Gastroenterol & Hepatol, NL-9713 GZ Groningen, Netherlands..
    Amin, Najaf
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands..
    Bakshi, Andrew
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia..
    Baumeister, Sebastian E.
    Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany.;Univ Regensburg, Inst Epidemiol & Prevent Med, D-93053 Regensburg, Germany..
    Biino, Ginevra
    Natl Res Council Italy, Inst Mol Genet, I-27100 Pavia, Italy..
    Bonnelykke, Klaus
    Univ Bristol, Sch Oral & Dent Sci, Bristol BS1 2LY, Avon, England..
    Boyle, Patricia A.
    Rush Univ, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA.;Rush Univ, Med Ctr, Dept Behav Sci, Chicago, IL 60612 USA..
    Campbell, Harry
    Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland..
    Cappuccio, Francesco P.
    Univ Warwick, Warwick Med Sch, Coventry CV4 7AL, W Midlands, England..
    Davies, Gail
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland..
    De Neve, Jan-Emmanuel
    Univ Oxford, Said Business Sch, Oxford OX1 1HP, England..
    Deloukas, Panos
    Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, London EC1M 6BQ, England.;King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah 21589, Saudi Arabia..
    Demuth, Ilja
    Charite, Res Grp Geriatr, Berlin Aging Study 2, D-13347 Berlin, Germany.;Charite, Inst Med & Human Genet, D-13353 Berlin, Germany..
    Ding, Jun
    NIA, Genet Lab, Baltimore, MD 21224 USA..
    Eibich, Peter
    DIW Berlin, German Socioecon Panel Study, D-10117 Berlin, Germany.;Univ Oxford, Nuffield Dept Populat Hlth, Hlth Econ Res Ctr, Oxford OX3 7LF, England..
    Eisele, Lewin
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, D-45147 Essen, Germany..
    Eklund, Niina
    THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Evans, David M.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.;Univ Queensland, Diamantina Inst, Translat Res Inst, Brisbane, Qld 4102, Australia..
    Faul, Jessica D.
    Univ Michigan, Inst Social Res, Survey Res Ctr, Ann Arbor, MI 48109 USA..
    Feitosa, Mary F.
    Washington Univ, Sch Med, Div Stat Genom, Dept Genet, St Louis, MO 63018 USA..
    Forstner, Andreas J.
    Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany.;Univ Bonn, Life & Brain Ctr, Dept Genom, D-53127 Bonn, Germany..
    Gandin, Ilaria
    Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy..
    Gunnarsson, Bjarni
    Halldorsson, Bjarni V.
    Reykjavik Univ, Sch Sci & Engn, Inst Biomed & Neural Engn, IS-101 Reykjavik, Iceland..
    Harris, Tamara B.
    NIA, Lab Epidemiol, Demog, NIH, Bethesda, MD 20892 USA..
    Heath, Andrew C.
    Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA..
    Hocking, Lynne J.
    Univ Aberdeen, Div Appl Hlth Sci, Aberdeen AB25 2ZD, Scotland..
    Holliday, Elizabeth G.
    Hunter Med Res Inst, Publ Hlth Stream, New Lambton, NSW 2305, Australia.;Univ Newcastle, Fac Hlth & Med, Newcastle, NSW 2300, Australia..
    Homuth, Georg
    Univ Med Greifswald, Interfac Inst Genet & Funct Genom, D-17475 Greifswald, Germany..
    Horan, Michael A.
    Univ Manchester, Manchester Med Sch, Manchester M13 9PT, Lancs, England..
    Hottenga, Jouke-Jan
    Vrije Univ Amsterdam, Dept Biol Psychol, NL-1081 BT Amsterdam, Netherlands..
    de Jager, Philip L.
    Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Brigham & Womens Hosp, Dept Neurol, Program Translat NeuroPsychiat Genom, 75 Francis St, Boston, MA 02115 USA.;Brigham & Womens Hosp, Dept Psychiat, Program Translat NeuroPsychiat Genom, 75 Francis St, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Boston, MA 02115 USA..
    Joshi, Peter K.
    Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland..
    Jugessur, Astanand
    Norwegian Inst Publ Hlth, Dept Genes & Environm, N-0403 Oslo, Norway..
    Kaakinen, Marika A.
    Univ London Imperial Coll Sci Technol & Med, Dept Genom Common Dis, London W12 0NN, England..
    Kahonen, Mika
    Tampere Univ Hosp, Dept Clin Physiol, Tampere 33521, Finland.;Univ Tampere, Sch Med, Dept Clin Physiol, Tampere 33014, Finland..
    Kanoni, Stavroula
    Queen Mary Univ London, William Harvey Res Inst, Barts & London Sch Med & Dent, London EC1M 6BQ, England..
    Keltigangas-Jarvinen, Liisa
    Univ Helsinki, Inst Behav Sci, FIN-00014 Helsinki, Finland..
    Kiemeney, Lambertus A. L. M.
    Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, NL-6500 HB Nijmegen, Netherlands..
    Kolcic, Ivana
    Univ Split, Sch Med, Publ Hlth, Split 21000, Croatia..
    Koskinen, Seppo
    THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Kraja, Aldi T.
    Washington Univ, Sch Med, Div Stat Genom, Dept Genet, St Louis, MO 63018 USA..
    Kroh, Martin
    DIW Berlin, German Socioecon Panel Study, D-10117 Berlin, Germany..
    Kutalik, Zoltan
    Univ Lausanne, Dept Med Genet, CH-1005 Lausanne, Switzerland.;Swiss Inst Bioinformat, CH-1015 Lausanne, Switzerland.;Lausanne Univ Hosp CHUV, Inst Social & Prevent Med, CH-1010 Lausanne, Switzerland..
    Latvala, Antti
    Univ Helsinki, Dept Publ Hlth, Helsinki 00014, Finland..
    Launer, Lenore J.
    NIA, Neuroepidemiol Sect, NIH, Bethesda, MD 20892 USA..
    Lebreton, Mael P.
    Univ Amsterdam, Amsterdam Business Sch, NL-1018 TV Amsterdam, Netherlands.;Univ Amsterdam, Amsterdam Brain & Cognit Ctr, NL-1018 XA Amsterdam, Netherlands..
    Levinson, Douglas F.
    Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA..
    Lichtenstein, Paul
    Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden..
    Lichtner, Peter
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany..
    Liewald, David C. M.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland..
    Loukola, Anu
    Univ Helsinki, Dept Publ Hlth, Helsinki 00014, Finland..
    Madden, Pamela A.
    Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA..
    Magi, Reedik
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia..
    Maki-Opas, Tomi
    THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Marioni, Riccardo E.
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia.;Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Med Genet Sect, Edinburgh EH4 2XU, Midlothian, Scotland..
    Marques-Vidal, Pedro
    Lausanne Univ Hosp CHUV, Dept Internal Med, Internal Med, CH-1011 Lausanne, Switzerland..
    Meddens, Gerardus A.
    Tema BV, NL-2131 HE Hoofddorp, Netherlands..
    McMahon, George
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England..
    Meisinger, Christa
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Epidemiol 2, D-85764 Neuherberg, Germany..
    Meitinger, Thomas
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany..
    Milaneschi, Yusplitri
    Vrije Univ Amsterdam, Med Ctr, Psychiat, NL-1081 HL Amsterdam, Netherlands.;GGZ inGeest, NL-1081 HL Amsterdam, Netherlands..
    Milani, Lili
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia..
    Montgomery, Grant W.
    QIMR Berghofer Med Res Inst, Mol Epidemiol, Brisbane, Qld 4029, Australia..
    Myhre, Ronny
    Norwegian Inst Publ Hlth, Dept Genes & Environm, N-0403 Oslo, Norway..
    Nelson, Christopher P.
    Univ Leicester, Dept Cardiovasc Sci, Leicester LE3 9QP, Leics, England.;Glenfield Gen Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester LE3 9QP, Leics, England..
    Nyholt, Dale R.
    QIMR Berghofer Med Res Inst, Mol Epidemiol, Brisbane, Qld 4029, Australia.;Queensland Inst Technol, Inst Hlth & Biomed Innovat, Brisbane, Qld 4059, Australia..
    Ollier, William E. R.
    Univ Manchester, Inst Populat Hlth, Ctr Integrated Genom Med Res, Manchester M13 9PT, Lancs, England..
    Palotie, Aarno
    Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands.;Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA.;Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA.;Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA..
    Paternoster, Lavinia
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England..
    Pedersen, Nancy L.
    Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden..
    Petrovic, Katja E.
    Gen Hosp, Dept Neurol, A-8036 Graz, Austria.;Med Univ Graz, A-8036 Graz, Austria..
    Porteous, David J.
    Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland..
    Raikkonen, Katri
    Univ Helsinki, Inst Behav Sci, FIN-00014 Helsinki, Finland.;Folkhalsan Res Ctr, Helsinki 00014, Finland..
    Ring, Susan M.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England..
    Robino, Antonietta
    Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Med Genet, I-34100 Trieste, Italy..
    Rostapshova, Olga
    Harvard Univ, Dept Econ, Cambridge, MA 02138 USA.;Social Impact, Arlington, VA 22201 USA..
    Rudan, Igor
    Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland..
    Rustichini, Aldo
    Univ Minnesota Twin Cities, Dept Econ, Minneapolis, MN 55455 USA..
    Salomaa, Veikko
    THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Sanders, Alan R.
    NorthShore Univ HealthSyst, Dept Psychiat & Behav Sci, Evanston, IL 60201 USA.;Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA..
    Sarin, Antti-Pekka
    Univ Helsinki, Inst Mol Med Finland FIMM, FIN-00014 Helsinki, Finland.;Natl Inst Hlth & Welf, Publ Hlth Genom Unit, Helsinki 00300, Finland..
    Schmidt, Helena
    Gen Hosp, Dept Neurol, A-8036 Graz, Austria.;Med Univ Graz, A-8036 Graz, Austria.;Gen Hosp, Ctr Mol Med, Inst Mol Biol & Biochem, Res Unit Genet Epidemiol, A-8010 Graz, Austria.;Med Univ, A-8010 Graz, Graz, Austria..
    Scott, Rodney J.
    Univ Newcastle, Fac Hlth & Med, Newcastle, NSW 2300, Australia.;Hunter Med Res Inst, Informat Based Med Stream, New Lambton, NSW 2305, Australia..
    Smith, Blair H.
    Univ Dundee, Res Inst, Dundee DD1 9SY, Scotland..
    Smith, Jennifer A.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Staessen, Jan A.
    Univ Leuven, Dept Cardiovasc Sci, Res Unit Hypertens & Cardiovasc Epidemiol, B-3000 Leuven, Belgium.;Maastricht Univ, R&D VitaK Grp, NL-6229 EV Maastricht, Netherlands..
    Steinhagen-Thiessen, Elisabeth
    Charite, Res Grp Geriatr, Berlin Aging Study 2, D-13347 Berlin, Germany..
    Strauch, Konstantin
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Genet Epidemiol, D-85764 Neuherberg, Germany.;Univ Munich, Inst Med Informat Biometry & Epidemiol, Chair Genet Epidemiol, D-81377 Munich, Germany..
    Terracciano, Antonio
    Florida State Univ, Coll Med, Dept Geriatr, Tallahassee, FL 32306 USA..
    Tobin, Martin D.
    Univ Leicester, Dept Hlth Sci & Genet, Leicester LE1 7RH, Leics, England..
    Ulivi, Sheila
    Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Med Genet, I-34100 Trieste, Italy..
    Vaccargiu, Simona
    Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA..
    Quaye, Lydia
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England..
    van Rooij, Frank J. A.
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus MC, Dept Internal Med, NL-3015 GE Rotterdam, Netherlands..
    Venturini, Cristina
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England.;Guys & St Thomas Fdn Trust, NIHR Biomed Res Ctr, London SE1 7EH, England..
    Vinkhuyzen, Anna A. E.
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia..
    Volker, Uwe
    Univ Med Greifswald, Interfac Inst Genet & Funct Genom, D-17475 Greifswald, Germany..
    Volzke, Henry
    Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany..
    Vonk, Judith M.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, NL-9700 RB Groningen, Netherlands..
    Vozzi, Diego
    Social Impact, Arlington, VA 22201 USA..
    Waage, Johannes
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, DK-2820 Copenhagen, Denmark.;Steno Diabet Ctr, DK-2820 Gentofte, Denmark..
    Ware, Erin B.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA.;Univ Michigan, Inst Social Res, Res Ctr Grp Dynam, Ann Arbor, MI 48104 USA..
    Willemsen, Gonneke
    Vrije Univ Amsterdam, Dept Biol Psychol, NL-1081 BT Amsterdam, Netherlands..
    Attia, John R.
    Hunter Med Res Inst, Publ Hlth Stream, New Lambton, NSW 2305, Australia.;Univ Manchester, Inst Populat Hlth, Ctr Integrated Genom Med Res, Manchester M13 9PT, Lancs, England..
    Bennett, David A.
    Rush Univ, Rush Alzheimers Dis Ctr, Chicago, IL 60612 USA.;Rush Univ, Med Ctr, Dept Neurol Sci, Chicago, IL 60612 USA..
    Berger, Klaus
    Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9700 RB Groningen, Netherlands..
    Bertram, Lars
    Univ Lubeck, Inst Neurogenet & Integrat & Expt Genom, Platform Genome Analyt, D-23562 Lubeck, Germany.;Univ London Imperial Coll Sci Technol & Med, Neuroepidemiol & Ageing Res Unit, Sch Publ Hlth, Fac Med, London SW7 2AZ, England..
    Bisgaard, Hans
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, DK-2820 Copenhagen, Denmark..
    Boomsma, Dorret I.
    Vrije Univ Amsterdam, Dept Biol Psychol, NL-1081 BT Amsterdam, Netherlands..
    Borecki, Ingrid B.
    Washington Univ, Sch Med, Div Stat Genom, Dept Genet, St Louis, MO 63018 USA..
    Bultmann, Ute
    Univ Groningen, Univ Med Ctr Groningen, Dept Hlth Sci Community & Occupat Med, NL-9713 AV Groningen, Netherlands..
    Chabris, Christopher F.
    Union Coll, Dept Psychol, Schenectady, NY 12308 USA..
    Cucca, Francesco
    Cittadella Univ Monserrato, CNR, IRGB, I-9042 Cagliari, Italy..
    Cusi, Daniele
    Univ Milan, Dept Hlth Sci, I-20142 Milan, Italy.;Italian Natl Res Council, Inst Biomed Technol, I-20090 Milan, Italy..
    Deary, Ian J.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh EH8 9JZ, Midlothian, Scotland..
    Dedoussis, George V.
    Harokopio Univ, Nutr & Dietet, Hlth Sci & Educ, Athens 17671, Greece..
    van Duijn, Cornelia M.
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands..
    Eriksson, Johan G.
    Folkhalsan Res Ctr, Helsinki 00014, Finland.;Univ Helsinki, Dept Gen Practice & Primary Hlth Care, FIN-00014 Helsinki, Finland..
    Franke, Barbara
    Donders Ctr Neurosci, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands.;Donders Ctr Neurosci, Dept Psychiat, NL-6500 HB Nijmegen, Netherlands..
    Franke, Lude
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands..
    Gasparini, Paolo
    Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy.;Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Med Genet, I-34100 Trieste, Italy.;Sidra, Expt Genet Div, Doha 26999, Qatar..
    Gejman, Pablo V.
    NorthShore Univ HealthSyst, Dept Psychiat & Behav Sci, Evanston, IL 60201 USA.;Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA..
    Gieger, Christian
    German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany..
    Grabe, Hans-Jorgen
    Univ Med Greifswald, Dept Psychiat & Psychotherapy, D-17475 Greifswald, Germany.;HELIOS Hosp Stralsund, Dept Psychiat & Psychotherapy, D-18437 Stralsund, Germany..
    Gratten, Jacob
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia..
    Groenen, Patrick J. F.
    Erasmus Univ, Erasmus Sch Econ, Econometr Inst, NL-3062 PA Rotterdam, Netherlands..
    Gudnason, Vilmundur
    Iceland Heart Assoc, IS-201 Kopavogur, Iceland.;Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland..
    van der Harst, Pim
    Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9700 RB Groningen, Netherlands.;Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands.;ICIN Netherlands Heart Inst, Durrer Ctr Cardiogenet Res, NL-1105 AZ Utrecht, Netherlands..
    Hayward, Caroline
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland.;Univ Edinburgh, Inst Genet & Mol Med, Generat Scotland, Ctr Genom & Expt Med, Edinburgh EH4 2XU, Midlothian, Scotland..
    Hinds, David A.
    23andMe Inc, Mountain View, CA 94041 USA..
    Hoffmann, Wolfgang
    Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany..
    Hyppnen, Elina
    Univ S Australia, Sch Hlth Sci, Ctr Populat Hlth Res, Adelaide, SA 5000, Australia.;Univ S Australia, Sansom Inst, Adelaide, SA 5000, Australia.;South Australian Hlth & Med Res Inst, Adelaide, SA 5000, Australia.;UCL Inst Child Hlth, Populat Policy & Practice, London WC1N 1EH, England..
    Iacono, William G.
    Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USA..
    Jacobsson, Bo
    Sahlgrens Acad, Inst Clin Sci, Dept Obstet & Gynecol, S-41685 Gothenburg, Sweden.;Norwegian Inst Publ Hlth, Dept Genes & Environm, N-0403 Oslo, Norway..
    Jarvelin, Marjo-Riitta
    Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, Dept Epidemiol & Biostat, London W2 1PG, England.;Univ Oulu, Fac Med, Ctr Life Course Epidemiol, Oulu 90014, Finland.;Oulu Univ Hosp, Unit Primary Care, Oulu 90029, Finland.;Univ Oulu, Bioctr Oulu, Oulu 90014, Finland..
    Jockel, Karl-Heinz
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, D-45147 Essen, Germany..
    Kaprio, Jaakko
    Univ Helsinki, Dept Publ Hlth, Helsinki 00014, Finland.;THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland.;Univ Helsinki, Inst Mol Med Finland FIMM, FIN-00014 Helsinki, Finland..
    Kardia, Sharon L. R.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Lehtimaki, Terho
    Fimlab Labs, Tampere 33520, Finland.;Univ Tampere, Sch Med, Dept Clin Chem, Tampere 33014, Finland..
    Lehrer, Steven F.
    NYU Shanghai, Econ, Pudong 200122, Peoples R China.;Queens Univ, Policy Studies, Kingston, ON K7L 3N6, Canada..
    Magnusson, Patrik K. E.
    Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden..
    Martin, Nicholas G.
    QIMR Berghofer Med Res Inst, Genet Epidemiol, Brisbane, Qld 4029, Australia..
    McGue, Matt
    Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USA..
    Metspalu, Andres
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.;Univ Tartu, Inst Mol & Cell Biol, EE-51010 Tartu, Estonia..
    Pendleton, Neil
    Salford Royal Hosp, Inst Brain Behav & Mental Hlth, Ctr Clin & Cognit Neurosci, Manchester M6 8HD, Lancs, England.;Univ Manchester, Manchester Inst Collaborat Res Ageing, Manchester M13 9PL, Lancs, England..
    Penninx, Brenda W. J. H.
    Vrije Univ Amsterdam, Med Ctr, Psychiat, NL-1081 HL Amsterdam, Netherlands.;GGZ inGeest, NL-1081 HL Amsterdam, Netherlands..
    Perola, Markus
    Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.;THL Natl Inst Hlth & Welf, Dept Hlth, Helsinki 00271, Finland..
    Pirastu, Nicola
    Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy..
    Pirastu, Mario
    Natl Res Council Italy, UOS Sassari, Ist Ric Genet & Biomed, I-07100 Sassari, Italy..
    Polasek, Ozren
    Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland.;Univ Split, Fac Med, Split 21000, Croatia..
    Posthuma, Danielle
    Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Complex Trait Genet, NL-1081 HV Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, NL-1081 HV Amsterdam, Netherlands..
    Power, Christine
    UCL Inst Child Hlth, Populat Policy & Practice, London WC1N 1EH, England..
    Province, Michael A.
    Washington Univ, Sch Med, Div Stat Genom, Dept Genet, St Louis, MO 63018 USA..
    Samani, Nilesh J.
    Univ Leicester, Dept Cardiovasc Sci, Leicester LE3 9QP, Leics, England.;Glenfield Gen Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester LE3 9QP, Leics, England..
    Schlessinger, David
    NIA, Genet Lab, Baltimore, MD 21224 USA..
    Schmidt, Reinhold
    Gen Hosp, Dept Neurol, A-8036 Graz, Austria.;Med Univ Graz, A-8036 Graz, Austria..
    Sorensen, Thorkild I. A.
    Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Sect Metab Genet, DK-2100 Copenhagen, Denmark.;Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England.;Bispebjerg Hosp, Inst Prevent Med, DK-2000 Frederiksberg, Denmark.;Frederiksberg Univ Hosp, Inst Prevent Med, DK-2000 Frederiksberg, Denmark..
    Spector, Tim D.
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England..
    Stefansson, Kari
    Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland..
    Thorsteinsdottir, Unnur
    Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland..
    Thurik, A. Roy
    Erasmus Univ, Erasmus Sch Econ, Dept Appl Econ, NL-3062 PA Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands.;Montpellier Business Sch, F-34080 Montpellier, France.;Panteia, NL-2715 CA Zoetermeer, Netherlands..
    Timpson, Nicholas J.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England..
    Tiemeier, Henning
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus MC, Dept Psychiat, NL-3015 GE Rotterdam, Netherlands.;Erasmus MC, Dept Child & Adolescent Psychiat, NL-3015 GE Rotterdam, Netherlands..
    Tung, Joyce Y.
    23andMe Inc, Mountain View, CA 94041 USA..
    Uitterlinden, Andre G.
    Erasmus MC, Dept Epidemiol, NL-3015 GE Rotterdam, Netherlands.;Erasmus MC, Dept Internal Med, NL-3015 GE Rotterdam, Netherlands..
    Vitart, Veronique
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland..
    Vollenweider, Peter
    Lausanne Univ Hosp CHUV, Dept Internal Med, Internal Med, CH-1011 Lausanne, Switzerland..
    Weir, David R.
    Univ Michigan, Inst Social Res, Survey Res Ctr, Ann Arbor, MI 48109 USA..
    Wilson, James F.
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland.;Univ Edinburgh, Ctr Global Hlth Res, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland..
    Wright, Alan F.
    Univ Edinburgh, Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland..
    Conley, Dalton C.
    NYU, Dept Sociol, 550 1St Ave, New York, NY 10012 USA.;NYU, Sch Med, 550 1St Ave, New York, NY 10016 USA..
    Krueger, Robert F.
    Univ Minnesota Twin Cities, Dept Psychol, Minneapolis, MN 55455 USA..
    Smith, George Davey
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England..
    Hofman, Albert
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA..
    Laibson, David I.
    Harvard Univ, Dept Econ, Cambridge, MA 02138 USA..
    Medland, Sarah E.
    QIMR Berghofer Med Res Inst, Quantitat Genet, Brisbane, Qld 4029, Australia..
    Meyer, Michelle N.
    Icahn Sch Med Mt Sinai, Grad Coll, Bioeth Program, Schenectady, NY 12308 USA..
    Yang, Jian
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia.;Univ Queensland, Diamantina Inst, Translat Res Inst, Brisbane, Qld 4102, Australia..
    Johannesson, Magnus
    Stockholm Sch Econ, Dept Econ, S-11383 Stockholm, Sweden..
    Visscher, Peter M.
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia.;Univ Queensland, Diamantina Inst, Translat Res Inst, Brisbane, Qld 4102, Australia..
    Esko, Tonu
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA.;Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA.;Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia.;Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA..
    Koellinger, Philipp D.
    Erasmus Univ, Inst Behav & Biol, NL-3062 PA Rotterdam, Netherlands.;Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Complex Trait Genet, NL-1081 HV Amsterdam, Netherlands.;Univ Amsterdam, Amsterdam Business Sch, NL-1018 TV Amsterdam, Netherlands..
    Cesarini, David
    NYU, Dept Econ, New York, NY 10003 USA.;Res Inst Ind Econ, S-10215 Stockholm, Sweden..
    Benjamin, Daniel J.
    Univ So Calif, Ctr Econ & Social Res, Los Angeles, CA 90089 USA..
    Genome-wide association study identifies 74 loci associated with educational attainment2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 533, nr 7604, s. 539-542Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals(1). Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample(1,2) of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.

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    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
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    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Riveiro-Falkenbach, Erica
    Univ Complutense Madrid, Inst I 12, Hosp Univ Octubre 12, Med Sch,Dept Pathol, Madrid 28041, Spain..
    Pennacchi, Paula C.
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Contreras-Alcalde, Marta
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Ibarz, Nuria
    Spanish Natl Canc Res Ctr CNIO, Prote Unit, Biotechnol Programme, Madrid 28029, Spain..
    Cifdaloz, Metehan
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain.;Roche Innovat Ctr Munich, Roche Pharma Res & Early Dev, D-82377 Penzberg, Germany..
    Catena, Xavier
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Calvo, Tonantzin G.
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Canon, Estela
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Alonso-Curbelo, Direna
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain.;Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA..
    Suarez, Javier
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Osterloh, Lisa
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Grana, Osvaldo
    Spanish Natl Canc Res Ctr CNIO, Bioinformat Unit, Struct Biol & Biocomp Programme, Madrid 28029, Spain..
    Mulero, Francisca
    Spanish Natl Canc Res Ctr CNIO, Mol Imaging Unit, Biotechnol Programme, Madrid 28029, Spain..
    Megias, Diego
    Spanish Natl Canc Res Ctr CNIO, Confocal Microscopy Unit, Biotechnol Programme, Madrid 28029, Spain..
    Canamero, Marta
    Spanish Natl Canc Res Ctr CNIO, Histopathol Unit, Biotechnol Programme, Madrid 28029, Spain..
    Martinez-Torrecuadrada, Jorge L.
    Spanish Natl Canc Res Ctr CNIO, Crystallog & Prot Engn Unit, Biotechnol Programme, Madrid 28029, Spain..
    Mondal, Chandrani
    Icahn Sch Med Mt Sinai, Tisch Canc Inst, Div Hematol & Oncol, Dept Med, New York, NY 10029 USA..
    Di Martino, Julie
    Icahn Sch Med Mt Sinai, Tisch Canc Inst, Div Hematol & Oncol, Dept Med, New York, NY 10029 USA..
    Lora, David
    Hosp Univ 12 Octubre, Inst I 12, CIBERESP, Madrid 28041, Spain..
    Martinez-Corral, Ines
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi. Spanish Natl Canc Res Ctr CNIO, Transgen Mice Unit, Biotechnol Programme, Madrid 28029, Spain.
    Bravo-Cordero, J. Javier
    Icahn Sch Med Mt Sinai, Tisch Canc Inst, Div Hematol & Oncol, Dept Med, New York, NY 10029 USA..
    Munoz, Javier
    Spanish Natl Canc Res Ctr CNIO, Prote Unit, Biotechnol Programme, Madrid 28029, Spain..
    Puig, Susana
    Hosp Clin Barcelona, Inst Invest Biomed August Pi & Sunyer, Melanoma Unit, Dermatol Dept, E-08036 Barcelona, Spain..
    Ortiz-Romero, Pablo
    Univ Complutense Madrid, Hosp Univ Octubre 12, Inst I 12, Dept Dermatol,Med Sch, Madrid 28041, Spain..
    Rodriguez-Peralto, Jose L.
    Univ Complutense Madrid, Inst I 12, Hosp Univ Octubre 12, Med Sch,Dept Pathol, Madrid 28041, Spain..
    Ortega, Sagrario
    Spanish Natl Canc Res Ctr CNIO, Transgen Mice Unit, Biotechnol Programme, Madrid 28029, Spain..
    Soengas, Maria S.
    Spanish Natl Canc Res Ctr CNIO, Melanoma Lab, Mol Oncol Programme, Madrid 28029, Spain..
    Whole-body imaging of lymphovascular niches identifies pre-metastatic roles of midkine2017Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 546, nr 7660, s. 676-680Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cutaneous melanoma is a type of cancer with an inherent potential for lymph node colonization, which is generally preceded by neolymphangiogenesis(1-3). However, sentinel lymph node removal does not necessarily extend the overall survival of patients with melanoma(4,5). Moreover, lymphatic vessels collapse and become dysfunctional as melanomas progress(6,7). Therefore, it is unclear whether (and how) lymphangiogenesis contributes to visceral metastasis. Soluble and vesicle-associated proteins secreted by tumours and/or their stroma have been proposed to condition pre-metastatic sites in patients with melanoma(8-14). Still, the identities and prognostic value of lymphangiogenic mediators remain unclear(2,14). Moreover, our understanding of lymphangiogenesis (in melanomas and other tumour types) is limited by the paucity of mouse models for live imaging of distal pre-metastatic niches(15). Injectable lymphatic tracers have been developed(7), but their limited diffusion precludes whole-body imaging at visceral sites(16). Vascular endothelial growth factor receptor 3 (VEGFR3) is an attractive 'lymphoreporter' 17 because its expression is strongly downregulated in normal adult lymphatic endothelial cells, but is activated in pathological situations such as inflammation and cancer(17,18). Here, we exploit this inducibility of VEGFR3 to engineer mouse melanoma models for whole-body imaging of metastasis generated by human cells, clinical biopsies or endogenously deregulated oncogenic pathways. This strategy revealed early induction of distal pre-metastatic niches uncoupled from lymphangiogenesis at primary lesions. Analyses of the melanoma secretome and validation in clinical specimens showed that the heparin-binding factor midkine is a systemic inducer of neo-lymphangiogenesis that defines patient prognosis. This role of midkine was linked to a paracrine activation of the mTOR pathway in lymphatic endothelial cells. These data support the use of VEGFR3 reporter mice as a 'MetAlert' discovery platform for drivers and inhibitors of metastasis.

  • 157. Orlando, Ludovic
    et al.
    Ginolhac, Aurelien
    Zhang, Guojie
    Froese, Duane
    Albrechtsen, Anders
    Stiller, Mathias
    Schubert, Mikkel
    Cappellini, Enrico
    Petersen, Bent
    Moltke, Ida
    Johnson, Philip L. F.
    Fumagalli, Matteo
    Vilstrup, Julia T.
    Raghavan, Maanasa
    Korneliussen, Thorfinn
    Malaspinas, Anna-Sapfo
    Vogt, Josef
    Szklarczyk, Damian
    Kelstrup, Christian D.
    Vinther, Jakob
    Dolocan, Andrei
    Stenderup, Jesper
    Velazquez, Amhed M. V.
    Cahill, James
    Rasmussen, Morten
    Wang, Xiaoli
    Min, Jiumeng
    Zazula, Grant D.
    Seguin-Orlando, Andaine
    Mortensen, Cecilie
    Magnussen, Kim
    Thompson, John F.
    Weinstock, Jacobo
    Gregersen, Kristian
    Roed, Knut H.
    Eisenmann, Vera
    Rubin, Carl-Johan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Miller, Donald C.
    Antczak, Douglas F.
    Bertelsen, Mads F.
    Brunak, Soren
    Al-Rasheid, Khaled A. S.
    Ryder, Oliver
    Andersson, Leif
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Mundy, John
    Krogh, Anders
    Gilbert, M. Thomas P.
    Kjaer, Kurt
    Sicheritz-Ponten, Thomas
    Jensen, Lars Juhl
    Olsen, Jesper V.
    Hofreiter, Michael
    Nielsen, Rasmus
    Shapiro, Beth
    Wang, Jun
    Willerslev, Eske
    Recalibrating Equus evolution using the genome sequence of an early Middle Pleistocene horse2013Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 499, nr 7456, s. 74-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The rich fossil record of equids has made them a model for evolutionary processes(1). Here we present a 1.12-times coverage draft genome from a horse bone recovered from permafrost dated to approximately 560-780 thousand years before present (kyr BP)(2,3). Our data represent the oldest full genome sequence determined so far by almost an order of magnitude. For comparison, we sequenced the genome of a Late Pleistocene horse (43 kyr BP), and modern genomes of five domestic horse breeds (Equus ferus caballus), a Przewalski's horse (E. f. prze-walskii) and a donkey (E. asinus). Our analyses suggest that the Equus lineage giving rise to all contemporary horses, zebras and donkeys originated 4.0-4.5 million years before present (Myr BP), twice the conventionally accepted time to the most recent common ancestor of the genus Equus(4,5). We also find that horse population size fluctuated multiple times over the past 2 Myr, particularly during periods of severe climatic changes. We estimate that the Przewalski's and domestic horse populations diverged 38-72 kyr BP, and find no evidence of recent admixture between the domestic horse breeds and the Przewalski's horse investigated. This supports the contention that Przewalski's horses represent the last surviving wild horse population(6). We find similar levels of genetic variation among Przewalski's and domestic populations, indicating that the former are genetically viable and worthy of conservation efforts. We also find evidence for continuous selection on the immune system and olfaction throughout horse evolution. Finally, we identify 29 genomic regions among horse breeds that deviate from neutrality and show low levels of genetic variation compared to the Przewalski's horse. Such regions could correspond to loci selected early during domestication.

  • 158.
    Paladini, C.
    et al.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium.;European Southern Observ, Alonso de Cordova 3107, Santiago, Chile., Chile..
    Baron, F.
    Georgia State Univ, Dept Phys & Astron, POB 5060, Atlanta, GA 30302 USA..
    Jorissen, A.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Le Bouquin, J. -B
    Univ Grenoble Alpes, CNRS, IPAG, F-38000 Grenoble, France. .
    Freytag, Bernd
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutionen för fysik och astronomi, Teoretisk astrofysik.
    Van Eck, S.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Wittkowski, M.
    European Southern Observ, Karl Schwarzschild Str 2, D-85748 Garching, Germany..
    Hron, J.
    Univ Vienna, Dept Astrophys, Turkenschanzstr 17, A-1180 Vienna, Austria..
    Chiavassa, A.
    Univ Nice Sophia Antipolis, Lab Lagrange, Observ Cote Azur, UMR 7293,CNRS, BP 4229, F-06304 Nice 4, France..
    Berger, J. -P
    Siopis, C.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Mayer, A.
    Univ Vienna, Dept Astrophys, Turkenschanzstr 17, A-1180 Vienna, Austria..
    Sadowski, G.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Kravchenko, K.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Shetye, S.
    Univ Libre Bruxelles, Inst Astron & Astrophys, CP 226, B-1050 Brussels, Belgium..
    Kerschbaum, F.
    Univ Vienna, Dept Astrophys, Turkenschanzstr 17, A-1180 Vienna, Austria..
    Kluska, J.
    Univ Exeter, Dept Phys & Astron, Stocker Rd, Exeter EX4 4QL, Devon, England..
    Ramstedt, Sofia
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutionen för fysik och astronomi, Teoretisk astrofysik.
    Large granulation cells on the surface of the giant star π1 Gruis2018Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 553, nr 7688, s. 310-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Convection plays a major part in many astrophysical processes, including energy transport, pulsation, dynamos and winds on evolved stars, in dust clouds and on brown dwarfs1,2. Most of our knowledge about stellar convection has come from studying the Sun: about two million convective cells with typical sizes of around 2,000 kilometres across are present on the surface of the Sun3—a phenomenon known as granulation. But on the surfaces of giant and supergiant stars there should be only a few large (several tens of thousands of times larger than those on the Sun) convective cells3, owing to low surface gravity. Deriving the characteristic properties of convection (such as granule size and contrast) for the most evolved giant and supergiant stars is challenging because their photospheres are obscured by dust, which partially masks the convective patterns4. These properties can be inferred from geometric model fitting5,6,7, but this indirect method does not provide information about the physical origin of the convective cells5,6,7. Here we report interferometric images of the surface of the evolved giant star π1 Gruis, of spectral type8,9 S5,7. Our images show a nearly circular, dust-free atmosphere, which is very compact and only weakly affected by molecular opacity. We find that the stellar surface has a complex convective pattern with an average intensity contrast of 12 per cent, which increases towards shorter wavelengths. We derive a characteristic horizontal granule size of about 1.2 × 1011 metres, which corresponds to 27 per cent of the diameter of the star. Our measurements fall along the scaling relations between granule size, effective temperature and surface gravity that are predicted by simulations of stellar surface convection10,11,12.

  • 159.
    Pardo, Jason D.
    et al.
    Univ Calgary, Dept Comparat Biol & Expt Med, 3330 Hosp Dr, Calgary, AB T2N 4N1, Canada..
    Szostakiwskyj, Matt
    Univ Calgary, Dept Biol Sci, 2500 Univ Dr, Calgary, AB T2N 1N4, Canada..
    Ahlberg, Per
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Anderson, Jason S.
    Univ Calgary, Dept Comparat Biol & Expt Med, 3330 Hosp Dr, Calgary, AB T2N 4N1, Canada..
    Hidden morphological diversity among early tetrapods2017Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 546, nr 7660, s. 642-645Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Phylogenetic analysis of early tetrapod evolution has resulted in a consensus across diverse data sets(1-3) in which the tetrapod stem group is a relatively homogenous collection of medium-to large-sized animals showing a progressive loss of 'fish' characters as they become increasingly terrestrial(4,5), whereas the crown group demonstrates marked morphological diversity and disparity(6). The oldest fossil attributed to the tetrapod crown group is the highly specialized astopod Lethiscus stocki(7,8), which shows a small size, extreme axial elongation, loss of limbs, spool-shaped vertebral centra, and a skull with reduced centres of ossification, in common with an otherwise disparate group of small animals known as lepospondyls. Here we use micro-computed tomography of the only known specimen of Lethiscus to provide new information that strongly challenges this consensus. Digital dissection reveals extremely primitive cranial morphology, including a spiracular notch, a large remnant of the notochord within the braincase, an open ventral cranial fissure, an anteriorly restricted parasphenoid element, and Meckelian ossifications. The braincase is elongate and lies atop a dorsally projecting septum of the parasphenoid bone, similar to stem tetrapods such as embolomeres. This morphology is consistent in a second astopod, Coloraderpeton, although the details differ. Phylogenetic analysis, including critical new braincase data, places astopods deep on the tetrapod stem, whereas another major lepospondyl lineage is displaced into the amniotes. These results show that stem group tetrapods were much more diverse in their body plans than previously thought. Our study requires a change in commonly used calibration dates for molecular analyses, and emphasizes the importance of character sampling for early tetrapod evolutionary relationships.

  • 160.
    Pedersen, Kai O.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Filosofiska fakulteten, Matematisk-naturvetenskapliga sektionen.
    Sedimentation equilibrium measurements with low molecular substances in the ultra-centrifuge1935Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 135, s. 304-305Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The calculated molecular weights agreed fairly well with the known values for these substances except in the cases of the substance with the lowest molecular weight, CsCl, where the difference in concentration was very small. Quite recently, Prof. Svedberg has greatly improved his ultra-centrifuge (see Svedberg, loc.

  • 161.
    Pedersen, Kai O.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Filosofiska fakulteten, Matematisk-naturvetenskapliga sektionen.
    Temperature stability and denaturation of serum albumin1931Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 128, s. 150-151Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    It has been shown by Svedberg and Sjögren1 that at ordinary temperature serum albumin is stable (that is, homogeneous with regard to molecular weight) in a region of pH varying between 4 and 9. These authors have also shown that outside of the stability region, but not too far from it, the serum albumin molecule is dissociated into smaller molecules. This first stage of breaking up of the molecule probably means the formation of particles of half the weight of the original molecule. The complete breaking up of the molecule follows immediately after this stage. The first stage has been shown to be reversible with regard to the molecular weight.

  • 162. Perricaudet, Michel
    et al.
    Akusjärvi, Göran
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för naturvetenskaplig mikrobiologi.
    Virtanen, Anders
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för naturvetenskaplig mikrobiologi.
    Pettersson, Ulf
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för naturvetenskaplig mikrobiologi.
    Structure of two spliced mRNAs from the transforming region of human subgroup C adenoviruses1979Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 281, nr 5733, s. 694-696Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    The papova viruses and the human adenoviruses are widely used as a model system to study cell transformation in vitro. In subgroup C human adenoviruses, fragment HpaI-E, which comprises as little as 4.5% of the adenovirus type 5 (ad5) DNA, is sufficient for transformation of rat embryo cells1. Analysis of messenger RNAs (mRNAs) from the transforming region of adenoviruses type 2 (ad2) has identified several spliced mRN A species2−4. Promoter mapping studies indicate that the leftmost early region contains two separate transcription units, E1A and E1B (ref. 5) (Fig. 1a). Region E1A is approximately equivalent HpaI-E. The complete nucleotide sequence of the HpaI-E fragment of ad5 was recently reported6. However, the spliced nature of early adenovirus mRNAs prevents a prediction of the amino acid sequence of the corresponding polypeptides directly from the DNA sequence. To study the structure of early ad2 mRNAs at the nucleotide level, we have used molecular cloning procedures to amplify the appropriate mRNA sequences. In this report, clones corresponding to the 12S and 13S mRNA from region E1A (Fig. 1c) have been isolated and characterised by hybridisation and sequence analysis. Our results enable us to predict the primary sequence of two related polypeptides from region E1A of human subgroup C adenoviruses.

  • 163. Perry, John R. B.
    et al.
    Day, Felix
    Elks, Cathy E.
    Sulem, Patrick
    Thompson, Deborah J.
    Ferreira, Teresa
    He, Chunyan
    Chasman, Daniel I.
    Esko, Toenu
    Thorleifsson, Gudmar
    Albrecht, Eva
    Ang, Wei Q.
    Corre, Tanguy
    Cousminer, Diana L.
    Feenstra, Bjarke
    Franceschini, Nora
    Ganna, Andrea
    Johnson, Andrew D.
    Kjellqvist, Sanela
    Lunetta, Kathryn L.
    McMahon, George
    Nolte, Ilja M.
    Paternoster, Lavinia
    Porcu, Eleonora
    Smith, Albert V.
    Stolk, Lisette
    Teumer, Alexander
    Tsernikova, Natalia
    Tikkanen, Emmi
    Ulivi, Sheila
    Wagner, Erin K.
    Amin, Najaf
    Bierut, Laura J.
    Byrne, Enda M.
    Hottenga, Jouke-Jan
    Koller, Daniel L.
    Mangino, Massimo
    Pers, Tune H.
    Yerges-Armstrong, Laura M.
    Zhao, Jing Hua
    Andrulis, Irene L.
    Anton-Culver, Hoda
    Atsma, Femke
    Bandinelli, Stefania
    Beckmann, Matthias W.
    Benitez, Javier
    Blomqvist, Carl
    Bojesen, Stig E.
    Bolla, Manjeet K.
    Bonanni, Bernardo
    Brauch, Hiltrud
    Brenner, Hermann
    Buring, Julie E.
    Chang-Claude, Jenny
    Chanock, Stephen
    Chen, Jinhui
    Chenevix-Trench, Georgia
    Collee, J. Margriet
    Couch, Fergus J.
    Couper, David
    Coviello, Andrea D.
    Cox, Angela
    Czene, Kamila
    D'adamo, Adamo Pio
    Smith, George Davey
    De Vivo, Immaculata
    Demerath, Ellen W.
    Dennis, Joe
    Devilee, Peter
    Dieffenbach, Aida K.
    Dunning, Alison M.
    Eiriksdottir, Gudny
    Eriksson, Johan G.
    Fasching, Peter A.
    Ferrucci, Luigi
    Flesch-Janys, Dieter
    Flyger, Henrik
    Foroud, Tatiana
    Franke, Lude
    Garcia, Melissa E.
    Garcia-Closas, Montserrat
    Geller, Frank
    de Geus, Eco E. J.
    Giles, Graham G.
    Gudbjartsson, Daniel F.
    Gudnason, Vilmundur
    Guenel, Pascal
    Guo, Suiqun
    Hall, Per
    Hamann, Ute
    Haring, Robin
    Hartman, Catharina A.
    Heath, AndrewC.
    Hofman, Albert
    Hooning, Maartje J.
    Hopper, John L.
    Hu, Frank B.
    Hunter, David J.
    Karasik, David
    Kiel, Douglas P.
    Knight, Julia A.
    Kosma, Veli-Matti
    Kutalik, Zoltan
    Lai, Sandra
    Lambrechts, Diether
    Lindblom, Annika
    Maegi, Reedik
    Magnusson, Patrik K.
    Mannermaa, Arto
    Martin, Nicholas G.
    Masson, Gisli
    McArdle, Patrick F.
    McArdle, Wendy L.
    Melbye, Mads
    Michailidou, Kyriaki
    Mihailov, Evelin
    Milani, Lili
    Milne, Roger L.
    Nevanlinna, Heli
    Neven, Patrick
    Nohr, Ellen A.
    Oldehinkel, Albertine J.
    Oostra, Ben A.
    Palotie, Aarno
    Peacock, Munro
    Pedersen, Nancy L.
    Peterlongo, Paolo
    Peto, Julian
    Pharoah, Paul D. P.
    Postma, Dirkje S.
    Pouta, Anneli
    Pylkaes, Katri
    Radice, Paolo
    Ring, Susan
    Rivadeneira, Fernando
    Robino, Antonietta
    Rose, Lynda M.
    Rudolph, Anja
    Salomaa, Veikko
    Sanna, Serena
    Schlessinger, David
    Schmidt, Marjanka K.
    Southey, Mellissa C.
    Sovio, Ulla
    Stampfer, Meir J.
    Stoeckl, Doris
    Storniolo, Anna M.
    Timpson, Nicholas J.
    Tyrer, Jonathan
    Visser, Jenny A.
    Vollenweider, Peter
    Voelzke, Henry
    Waeber, Gerard
    Waldenberger, Melanie
    Wallaschofski, Henri
    Wang, Qin
    Willemsen, Gonneke
    Winqvist, Robert
    Wolffenbuttel, Bruce H. R.
    Wright, Margaret J.
    Boomsma, Dorret I.
    Econs, Michael J.
    Khaw, Kay-Tee
    Loos, Ruth J. F.
    McCarthy, Mark I.
    Montgomery, Grant W.
    Rice, John P.
    Streeten, Elizabeth A.
    Thorsteinsdottir, Unnur
    van Duijn, Cornelia M.
    Alizadeh, Behrooz Z.
    Bergmann, Sven
    Boerwinkle, Eric
    Boyd, Heather A.
    Crisponi, Laura
    Gasparini, Paolo
    Gieger, Christian
    Harris, Tamara B.
    Ingelsson, Erik
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Jaervelin, Marjo-Riitta
    Kraft, Peter
    Lawlor, Debbie
    Metspalu, Andres
    Pennell, Craig E.
    Ridker, Paul M.
    Snieder, Harold
    Sorensen, Thorkild I. A.
    Spector, Tim D.
    Strachan, David P.
    Uitterlinden, Andre G.
    Wareham, Nicholas J.
    Widen, Elisabeth
    Zygmunt, Marek
    Murray, Anna
    Easton, Douglas F.
    Stefansson, Kari
    Murabito, Joanne M.
    Ong, Ken K.
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 514, nr 7520, s. 92-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-causemortality(1). Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation(2,3), but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 x 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and gamma-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

  • 164. Petrie, M
    et al.
    Schwabl, H
    Brande-Lavridsen, Nanna
    Burke, T
    Maternal investment: Sex differences in avian yolk hormone levels2001Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 412, s. 498-Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    It has been suggested that female birds put more resources into eggs fathered by attractive males by laying larger eggs1 or by adding more testosterone2, but this inference could be undermined if eggs of different sex are provisioned differently, as these studies did not control for sex differences. Here we compare hormone concentrations in the yolks of male and female eggs and find that these are significantly different. Our results indicate that it is premature to conclude that female birds invest more in eggs sired by a preferred male, and raise the possibility that yolk sex steroids may be part of the sex-determining process in birds.

  • 165.
    Phan, T. D.
    et al.
    Univ Calif Berkeley, Space Sci Lab, Berkeley, CA, USA.
    Eastwood, J. P.
    Imperial Coll London, Blackett Lab, London, England.
    Shay, M. A.
    Univ Delaware, Newark, DE, USA.
    Drake, J. F.
    Univ Maryland, College Pk, MD USA.
    Sonnerup, B. U. Ö.
    Dartmouth Coll, Hanover, NH USA.
    Fujimoto, M.
    JAXA, ISAS, Sagamihara, Kanagawa, Japan.
    Cassak, P. A.
    West Virginia Univ, Morgantown, WV USA.
    Øieroset, M.
    Univ Calif Berkeley, Space Sci Lab, Berkeley, CA USA.
    Burch, J. L.
    Southwest Res Inst, San Antonio, TX USA.
    Torbert, R. B.
    Univ New Hampshire, Durham, NH USA.
    Rager, A. C.
    Catholic Univ Amer, Washington, DC USA; NASA, Goddard Space Flight Ctr, Greenbelt, MD USA.
    Dorelli, J. C.
    NASA, Goddard Space Flight Ctr, Greenbelt, MD USA.
    Gershman, D. J.
    NASA, Goddard Space Flight Ctr, Greenbelt, MD USA.
    Pollock, C.
    Denali Sci, Healy, AK USA.
    Pyakurel, P. S.
    Univ Delaware, Newark, DE USA.
    Haggerty, C. C.
    Univ Delaware, Newark, DE USA.
    Khotyaintsev, Yuri V.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutet för rymdfysik, Uppsalaavdelningen. Swedish Inst Space Phys, Uppsala, Sweden.
    Lavraud, B.
    Univ Toulouse, Inst Rech Astrophys & Planetol, Toulouse, France.
    Saito, Y.
    JAXA, ISAS, Sagamihara, Kanagawa, Japan.
    Oka, M.
    Univ Calif Berkeley, Space Sci Lab, Berkeley, CA USA.
    Ergun, R. E.
    Univ Colorado, LASP, Boulder, CO USA.
    Retino, A.
    Ecole Polytech, CNRS, Paris, France.
    Le Contel, O.
    Ecole Polytech, CNRS, Paris, France.
    Argall, M. R.
    Univ New Hampshire, Durham, NH USA.
    Giles, B. L.
    NASA, Goddard Space Flight Ctr, Greenbelt, MD USA.
    Moore, T. E.
    NASA, Goddard Space Flight Ctr, Greenbelt, MD USA.
    Wilder, F. D.
    Univ Colorado, LASP, Boulder, CO USA.
    Strangeway, R. J.
    Univ Calif Los Angeles, Los Angeles, CA USA.
    Russell, C. T.
    Univ Calif Los Angeles, Los Angeles, CA USA.
    Lindqvist, P. A.
    Royal Inst Technol, Stockholm, Sweden.
    Magnes, W.
    Austrian Acad Sci, Space Res Inst, Graz, Austria.
    Electron magnetic reconnection without ion coupling in Earth's turbulent magnetosheath2018Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 557, nr 7704, s. 202-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Magnetic reconnection in current sheets is a magnetic-to-particle energy conversion process that is fundamental to many space and laboratory plasma systems. In the standard model of reconnection, this process occurs in a minuscule electron-scale diffusion region(1,2). On larger scales, ions couple to the newly reconnected magnetic-field lines and are ejected away from the diffusion region in the form of bi-directional ion jets at the ion Alfven speed(3-5). Much of the energy conversion occurs in spatially extended ion exhausts downstream of the diffusion region(6). In turbulent plasmas, which contain a large number of small-scale current sheets, reconnection has long been suggested to have a major role in the dissipation of turbulent energy at kinetic scales(7-11). However, evidence for reconnection plasma jetting in small-scale turbulent plasmas has so far been lacking. Here we report observations made in Earth's turbulent magnetosheath region (downstream of the bow shock) of an electron-scale current sheet in which diverging bi-directional super-ion-Alfvenic electron jets, parallel electric fields and enhanced magnetic-to-particle energy conversion were detected. Contrary to the standard model of reconnection, the thin reconnecting current sheet was not embedded in a wider ion-scale current layer and no ion jets were detected. Observations of this and other similar, but unidirectional, electron jet events without signatures of ion reconnection reveal a form of reconnection that can drive turbulent energy transfer and dissipation in electron-scale current sheets without ion coupling.

  • 166. Philippe, Herve
    et al.
    Brinkmann, Henner
    Copley, Richard R.
    Moroz, Leonid L.
    Nakano, Hiroaki
    Poustka, Albert J.
    Wallberg, Andreas
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Systematisk biologi.
    Peterson, Kevin J.
    Telford, Maximilian J.
    Acoelomorph flatworms are deuterostomes related to Xenoturbella2011Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 470, nr 7333, s. 255-260Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Xenoturbellida and Acoelomorpha are marine worms with contentious ancestry. Both were originally associated with the flatworms (Platyhelminthes), but molecular data have revised their phylogenetic positions, generally linking Xenoturbellida to the deuterostomes(1,2) and positioning the Acoelomorpha as the most basally branching bilaterian group(s)(3-6). Recent phylogenomic data suggested that Xenoturbellida and Acoelomorpha are sister taxa and together constitute an early branch of Bilateria(7). Here we assemble three independent data sets-mitochondrial genes, a phylogenomic data set of 38,330 amino-acid positions and new microRNA (miRNA) complements-and show that the position of Acoelomorpha is strongly affected by a long-branch attraction (LBA) artefact. When we minimize LBA we find consistent support for a position of both acoelomorphs and Xenoturbella within the deuterostomes. The most likely phylogeny links Xenoturbella and Acoelomorpha in a clade we call Xenacoelomorpha. The Xenacoelomorpha is the sister group of the Ambulacraria (hemichordates and echinoderms). We show that analyses of miRNA complements(8) have been affected by character loss in the acoels and that both groups possess one miRNA and the gene Rsb66 otherwise specific to deuterostomes. In addition, Xenoturbella shares one miRNA with the ambulacrarians, and two with the acoels. This phylogeny makes sense of the shared characteristics of Xenoturbellida and Acoelomorpha, such as ciliary ultrastructure and diffuse nervous system, and implies the loss of various deuterostome characters in the Xenacoelomorpha including coelomic cavities, through gut and gill slits.

  • 167. Pierce, Stephanie E.
    et al.
    Ahlberg, Per E.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Hutchinson, John R.
    Molnar, Julia L.
    Sanchez, Sophie
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Tafforeau, Paul
    Clack, Jennifer A.
    Vertebral architecture in the earliest stem tetrapods2013Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 494, nr 7436, s. 226-229Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The construction of the vertebral column has been used as a key anatomical character in defining and diagnosing early tetrapod groups(1). Rhachitomous vertebrae(2)-in which there is a dorsally placed neural arch and spine, an anteroventially placed intercentrum and paired, posterodorsally placed pleurocentra have long been considered the ancestral morphology for tetrapods(1,3-6). Nonetheless, very little is known about vertebral anatomy in the earliest stem tetrapods, because most specimens remain trapped in surrounding matrix, obscuring Important anatomical features(7-9). Here we describe the three-dimensional vertebral architecture of the Late Devonian stem tetrapod Ichthyostega using propagation phase-contrast X-ray synchrotron. microtomography. Our scans reveal a diverse array of new morphological, and associated developmental and functional, characteristics, including a possible posterior-to-anterior vertebral ossification sequence and the first evolutionary appearance of ossified sternal elements. One of the most intriguing features relates to the positional relationships between the vertebral elements, with the pleurocentra being unexpectedly sutured or fused to the intercentra that directly succeed them, indicating a 'reverse' rhachitomous design(10). Comparison of Ichthyostega with two other stem tetrapods, Acanthostegi and Pederpess, shows that reverse rhachitomous vertebrae may be the ancestral condition for limbed vertebrates. This study fundamentally revises our current understanding' of vertebral column evolution in the earliest tetrapods and raises questions about the presumed vertebral architecture of tetrapodomorph fish(12,13) and later, more crownward, tetrapods.

  • 168. Poorter, Lourens
    et al.
    Bongers, Frans
    Aide, T. Mitchell
    Almeyda Zambrano, Angélica M.
    Balvanera, Patricia
    Becknell, Justin M.
    Boukili, Vanessa
    Brancalion, Pedro H. S.
    Broadbent, Eben N.
    Chazdon, Robin L.
    Craven, Dylan
    de Almeida-Cortez, Jarcilene S.
    Cabral, George A. L.
    de Jong, Ben H. J.
    Denslow, Julie S.
    Dent, Daisy H.
    DeWalt, Saara J.
    Dupuy, Juan M.
    Durán, Sandra M.
    Espírito-Santo, Mario M.
    Fandino, María C.
    César, Ricardo G.
    Hall, Jefferson S.
    Hernandez-Stefanoni, José Luis
    Jakovac, Catarina C.
    Junqueira, André B.
    Kennard, Deborah
    Letcher, Susan G.
    Licona, Juan-Carlos
    Lohbeck, Madelon
    Marín-Spiotta, Erika
    Martínez-Ramos, Miguel
    Massoca, Paulo
    Meave, Jorge A.
    Mesquita, Rita
    Mora, Francisco
    Muñoz, Rodrigo
    Muscarella, Robert
    Nunes, Yule R. F.
    Ochoa-Gaona, Susana
    de Oliveira, Alexandre A.
    Orihuela-Belmonte, Edith
    Peña-Claros, Marielos
    Pérez-García, Eduardo A.
    Piotto, Daniel
    Powers, Jennifer S.
    Rodríguez-Velázquez, Jorge
    Romero-Pérez, I. Eunice
    Ruíz, Jorge
    Saldarriaga, Juan G.
    Sanchez-Azofeifa, Arturo
    Schwartz, Naomi B.
    Steininger, Marc K.
    Swenson, Nathan G.
    Toledo, Marisol
    Uriarte, Maria
    van Breugel, Michiel
    van der Wal, Hans
    Veloso, Maria D. M.
    Vester, Hans F. M.
    Vicentini, Alberto
    Vieira, Ima C. G.
    Bentos, Tony Vizcarra
    Williamson, G. Bruce
    Rozendaal, Danaë M. A.
    Biomass resilience of Neotropical secondary forests2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 530, nr 7589Artikkel i tidsskrift (Fagfellevurdert)
  • 169. Purcell, Shaun M.
    et al.
    Wray, R
    Stone, L
    Visscher, M
    O'Donovan, C
    Sullivan, F
    Sklar, Pamela
    Ruderfer, M
    McQuillin, Andrew
    Morris, W
    O'Dushlaine, T
    Corvin, Aiden
    Holmans, A
    Macgregor, Stuart
    Gurling, Hugh
    Blackwood, R
    Craddock, J
    Gill, Michael
    Hultman, Christina M.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Kirov, K
    Lichtenstein, Paul
    Muir, J
    Owen, J
    Pato, N
    Scolnick, M
    St Clair, David
    Williams, M
    Georgieva, Lyudmila
    Nikolov, Ivan
    Norton, N
    Williams, H
    Toncheva, Draga
    Milanova, Vihra
    Thelander, F
    Sullivan, Patrick
    Kenny, Elaine
    Quinn, M
    Choudhury, Khalid
    Datta, Susmita
    Pimm, Jonathan
    Thirumalai, Srinivasa
    Puri, Vinay
    Krasucki, Robert
    Lawrence, Jacob
    Quested, Digby
    Bass, Nicholas
    Crombie, Caroline
    Fraser, Gillian
    Kuan, Leh
    Walker, Nicholas
    McGhee, A
    Pickard, Ben
    Malloy, Pat
    Maclean, W
    Van Beck, Margaret
    Pato, T
    Medeiros, Helena
    Middleton, Frank
    Carvalho, Celia
    Morley, Christopher
    Fanous, Ayman
    Conti, David
    Knowles, A
    Ferreira, Paz
    Macedo, Antonio
    Azevedo, Helena
    Kirby, N
    Ferreira, R
    Daly, J
    Chambert, Kimberly
    Kuruvilla, Finny
    Gabriel, B
    Ardlie, Kristin
    Moran, Jennifer L.
    Common polygenic variation contributes to risk of schizophrenia and bipolar disorder2009Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 460, nr 7256, s. 748-752Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%(1,2). We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of schizophrenia. First, we implicate the major histocompatibility complex. Second, we provide molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases.

  • 170.
    Qu, Qingming
    et al.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi.
    Haitina, Tatjana
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Zhu, Min
    Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences.
    Ahlberg, Per Erik
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    New genomic and fossil data illuminate the origin of enamel2015Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 526, nr 7571, s. 108-120Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Enamel, the hardest vertebrate tissue, covers the teeth of almost all sarcopterygians (lobe-finned bony fishes and tetrapods) as well as the scales and dermal bones of many fossil lobe-fins(1-5). Enamel deposition requires an organic matrix containing the unique enamel matrix proteins (EMPs) amelogenin (AMEL), enamelin (ENAM) and ameloblastin (AMBN)(6). Chondrichthyans (cartilaginous fishes) lack both enamel and EMP genes(7,8). Many fossil and a few living non-teleost actinopterygians (ray-finned bony fishes) such as the gar, Lepisosteus, have scales and dermal bones covered with a proposed enamel homologue called ganoine(1,9). However, no gene or transcript data for EMPs have been described from actinopterygians(10,11). Here we show that Psarolepis romeri, a bony fish from the the Early Devonian period, combines enamel-covered dermal odontodes on scales and skull bones with teeth of naked dentine, and that Lepisosteus oculatus (the spotted gar) has enam andambn genes that are expressed in the skin, probably associated with ganoine formation. The genetic evidence strengthens the hypothesis that ganoine is homologous with enamel. The fossil evidence, further supported by the Silurian bony fish Andreolepis, which has enamel-covered scales but teeth and odontodes on its dermal bones made of naked dentine(12-16), indicates that this tissue originated on the dermal skeleton, probably on the scales. It subsequently underwent heterotopic expansion across two highly conserved patterning boundaries (scales/head-shoulder and dermal/oral) within the odontode skeleton.

  • 171. Raghavan, Maanasa
    et al.
    Skoglund, Pontus
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Evolutionsbiologi.
    Graf, Kelly E.
    Metspalu, Mait
    Albrechtsen, Anders
    Moltke, Ida
    Rasmussen, Simon
    Stafford, Thomas W., Jr.
    Orlando, Ludovic
    Metspalu, Ene
    Karmin, Monika
    Tambets, Kristiina
    Rootsi, Siiri
    Maegi, Reedik
    Campos, Paula F.
    Balanovska, Elena
    Balanovsky, Oleg
    Khusnutdinova, Elza
    Litvinov, Sergey
    Osipova, Ludmila P.
    Fedorova, Sardana A.
    Voevoda, Mikhail I.
    DeGiorgio, Michael
    Sicheritz-Ponten, Thomas
    Brunak, Soren
    Demeshchenko, Svetlana
    Kivisild, Toomas
    Villems, Richard
    Nielsen, Rasmus
    Jakobsson, Mattias
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Evolutionsbiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Willerslev, Eske
    Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 505, nr 7481, s. 87-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians(1-3), there is no consensus with regard to which specific Old World populations they are closest to(4-8). Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-central Siberia(9), to an average depth of 1x. To our knowledge this is the oldest anatomically modern human genome reported to date. The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers(10-12), and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages(5). Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians(2,13). Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago(14), revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

  • 172. Rasmussen, Morten
    et al.
    Anzick, Sarah L.
    Waters, Michael R.
    Skoglund, Pontus
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Evolutionsbiologi.
    DeGiorgio, Michael
    Stafford, Thomas W., Jr.
    Rasmussen, Simon
    Moltke, Ida
    Albrechtsen, Anders
    Doyle, Shane M.
    Poznik, G. David
    Gudmundsdottir, Valborg
    Yadav, Rachita
    Malaspinas, Anna-Sapfo
    White, Samuel Stockton
    Allentoft, Morten E.
    Cornejo, Omar E.
    Tambets, Kristiina
    Eriksson, Anders
    Heintzman, Peter D.
    Karmin, Monika
    Korneliussen, Thorfinn Sand
    Meltzer, David J.
    Pierre, Tracey L.
    Stenderup, Jesper
    Saag, Lauri
    Warmuth, Vera M.
    Lopes, Margarida C.
    Malhi, Ripan S.
    Brunak, Soren
    Sicheritz-Ponten, Thomas
    Barnes, Ian
    Collins, Matthew
    Orlando, Ludovic
    Balloux, Francois
    Manica, Andrea
    Gupta, Ramneek
    Metspalu, Mait
    Bustamante, Carlos D.
    Jakobsson, Mattias
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Evolutionsbiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Nielsen, Rasmus
    Willerslev, Eske
    The genome of a Late Pleistocene human from a Clovis burial site in western Montana2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 506, nr 7487, s. 225-229Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Clovis, with its distinctive biface, blade and osseous technologies, is the oldest widespread archaeological complex defined in North America, dating from 11,100 to 10,700 C-14 years before present (BP) (13,000 to 12,600 calendar years BP)(1,2). Nearly 50 years of archaeological research point to the Clovis complex as having developed south of the North American ice sheets from an ancestral technology(3). However, both the origins and the genetic legacy of the people who manufactured Clovis tools remain under debate. It is generally believed that these people ultimately derived from Asia and were directly related to contemporary Native Americans(2). An alternative, Solutrean, hypothesis posits that the Clovis predecessors emigrated from southwestern Europe during the Last Glacial Maximum(4). Here we report the genome sequence of a male infant (Anzick-1) recovered from the Anzick burial site in western Montana. The human bones date to 10,705 +/- 35 C-14 years BP (approximately 12,707-12,556 calendar years BP) and were directly associated with Clovis tools. We sequenced the genome to an average depth of 14.4x and show that the gene flow from the Siberian Upper Palaeolithic Mal'ta population(5) into Native American ancestors is also shared by the Anzick-1 individual and thus happened before 12,600 years BP. We also show that the Anzick-1 individual is more closely related to all indigenous American populations than to any other group. Our data are compatible with the hypothesis that Anzick-1 belonged to a population directly ancestral to many contemporary Native Americans. Finally, we find evidence of a deep divergence in Native American populations that predates the Anzick-1 individual.

  • 173. Raymond, Peter A.
    et al.
    Hartmann, Jens
    Lauerwald, Ronny
    Sobek, Sebastian
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Limnologi.
    McDonald, Cory
    Hoover, Mark
    Butman, David
    Striegl, Robert
    Mayorga, Emilio
    Humborg, Christoph
    Kortelainen, Pirkko
    Duerr, Hans
    Meybeck, Michel
    Ciais, Philippe
    Guth, Peter
    Global carbon dioxide emissions from inland waters2013Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 503, nr 7476, s. 355-359Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Carbon dioxide (CO2) transfer from inland waters to the atmosphere, known as CO2 evasion, is a component of the global carbon cycle. Global estimates of CO2 evasion have been hampered, however, by the lack of a framework for estimating the inland water surface area and gas transfer velocity and by the absence of a global CO2 database. Here we report regional variations in global inland water surface area, dissolved CO2 and gas transfer velocity. We obtain global CO2 evasion rates of 1.8(-0.25)(+0.25) petagrams of carbon (Pg C) per year from streams and rivers and 0.32(-0.26)(+0.52) Pg C yr(-1) from lakes and reservoirs, where the upper and lower limits are respectively the 5th and 95th confidence interval percentiles. The resulting global evasion rate of 2.1 Pg C yr(-1) is higher than previous estimates owing to a larger stream and river evasion rate. Our analysis predicts global hotspots in stream and river evasion, with about 70 per cent of the flux occurring over just 20 per cent of the land surface. The source of inland water CO2 is still not known with certainty and new studies are needed to research the mechanisms controlling CO2 evasion globally.

  • 174.
    Reischauer, Sven
    et al.
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Stone, Oliver A.
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Villasenor, Alethia
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Chi, Neil
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Univ Calif San Diego, Inst Genom Med, Div Cardiol, Dept Med, La Jolla, CA 92037 USA..
    Jin, Suk-Won
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Gwangju Inst Sci & Technol, Sch Life Sci, Gwangju 61005, South Korea.;Yale Univ, Sch Med, Yale Cardiovasc Res Ctr, New Haven, CT 06511 USA..
    Martin, Marcel
    Stockholm Univ, Dept Biochem & Biophys, Sci Life Lab, S-17121 Solna, Sweden..
    Lee, Miler T.
    Yale Univ, Dept Genet, Sch Med, New Haven, CT 06520 USA.;Univ Pittsburgh, Dept Biol Sci, Pittsburgh, PA 15260 USA..
    Fukuda, Nana
    Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Marass, Michele
    Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Witty, Alec
    Univ Calif San Diego, Inst Genom Med, Div Cardiol, Dept Med, La Jolla, CA 92037 USA..
    Fiddes, Ian
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Univ Calif Santa Cruz, Genom Inst, Santa Cruz, CA 95064 USA.;Howard Hughes Med Inst, Santa Cruz, CA 95064 USA..
    Kuo, Taiyi
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Columbia Univ Coll Phys & Surg, Dept Med, 630 W 168th St, New York, NY 10032 USA.;Columbia Univ Coll Phys & Surg, Berrie Diabet Ctr, 630 W 168th St, New York, NY 10032 USA..
    Chung, Won-Suk
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Korea Adv Inst Sci & Technol, Dept Biol Sci, Daejeon 34141, South Korea..
    Salek, Sherveen
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Johns Hopkins Univ Hosp, Wilmer Eye Inst, Baltimore, MD 21224 USA..
    Lerrigo, Robert
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Univ Washington, Div Gen Internal Med, Seattle, WA 98104 USA..
    Alsio, Jessica
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Novartis, CH-4056 Basel, Switzerland..
    Luo, Shujun
    Illumina, San Diego, CA 92122 USA.;Personalis, Menlo Pk, CA 94025 USA..
    Tworus, Dominika
    Karolinska Inst, Dept Cell & Mol Biol, S-17177 Stockholm, Sweden..
    Augustine, Sruthy M.
    Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Mucenieks, Sophie
    Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Nystedt, Björn
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution.
    Giraldez, Antonio J.
    Yale Univ, Dept Genet, Sch Med, New Haven, CT 06520 USA..
    Schroth, Gary P.
    Illumina, San Diego, CA 92122 USA..
    Andersson, Olov
    Karolinska Inst, Dept Cell & Mol Biol, S-17177 Stockholm, Sweden..
    Stainier, Didier Y. R.
    Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94143 USA.;Max Planck Inst Heart & Lung Res, Dept Dev Genet, D-61231 Bad Nauheim, Germany..
    Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 535, nr 7611, s. 294-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Vascular and haematopoietic cells organize into specialized tissues during early embryogenesis to supply essential nutrients to all organs and thus play critical roles in development and disease. At the top of the haemato-vascular specification cascade lies cloche, a gene that when mutated in zebrafish leads to the striking phenotype of loss of most endothelial and haematopoietic cells(1-4) and a significant increase in cardiomyocyte numbers(5). Although this mutant has been analysed extensively to investigate mesoderm diversification and differentiation(1-7) and continues to be broadly used as a unique avascular model, the isolation of the cloche gene has been challenging due to its telomeric location. Here we used a deletion allele of cloche to identify several new cloche candidate genes within this genomic region, and systematically genome-edited each candidate. Through this comprehensive interrogation, we succeeded in isolating the cloche gene and discovered that it encodes a PAS-domain-containing bHLH transcription factor, and that it is expressed in a highly specific spatiotemporal pattern starting during late gastrulation. Gain-of-function experiments show that it can potently induce endothelial gene expression. Epistasis experiments reveal that it functions upstream of etv2 and tal1, the earliest expressed endothelial and haematopoietic transcription factor genes identified to date. A mammalian cloche orthologue can also rescue blood vessel formation in zebrafish cloche mutants, indicating a highly conserved role in vertebrate vasculogenesis and haematopoiesis. The identification of this master regulator of endothelial and haematopoietic fate enhances our understanding of early mesoderm diversification and may lead to improved protocols for the generation of endothelial and haematopoietic cells in vivo and in vitro.

  • 175.
    Reuveni, Shlomi
    et al.
    Harvard Univ, Dept Syst Biol, HMS, 200 Longwood Ave, Boston, MA 02115 USA..
    Ehrenberg, Måns
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Struktur- och molekylärbiologi.
    Paulsson, Johan
    Harvard Univ, Dept Syst Biol, HMS, 200 Longwood Ave, Boston, MA 02115 USA..
    Ribosomes are optimized for autocatalytic production2017Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 547, nr 7663, s. 293-297Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Many fine-scale features of ribosomes have been explained in terms of function, revealing a molecular machine that is optimized for error-correction, speed and control. Here we demonstrate mathematically that many less well understood, larger-scale features of ribosomes-such as why a few ribosomal RNA molecules dominate the mass and why the ribosomal protein content is divided into 55-80 small, similarly sized segments-speed up their autocatalytic production.

  • 176.
    Ribbing, Carl-Gustaf
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Tekniska sektionen, Institutionen för teknikvetenskaper, Fasta tillståndets fysik.
    Longitude Prize now an objective decision2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 511, nr 7507, s. 31-31Artikkel i tidsskrift (Fagfellevurdert)
  • 177.
    Rubin, Carl-Johan
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Zody, Michael C.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Eriksson, Jonas
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Meadows, Jennifer
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Sherwood, Ellen
    Karolinska Institutet, Department of cell and Molecular Biology.
    Webster, Matthew T.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Jiang, Lin
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Ingman, Max
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Sharpe, Ted
    Broad Institute.
    Besnier, Francois
    Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics.
    Ka, Sojeong
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Hallböök, Finn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Medicinsk utvecklingsbiologi.
    Carlborg, Örjan
    Swedish University of Agricultural Sciences, Department of Animal Breeding and Genetics.
    Bed'hom, Bertrand
    INRA, AgroParisTech, Animal Genetics and Integrative Biology.
    Tixier-Boichard, Michèle
    INRA, AgroParisTech, Animal Genetics and Integrative Biology.
    Jensen, Per
    Linköping University, IFM Biology.
    Siegel, Paul
    Virginia Polytechnic Institute and State University, Department of Animal and Poultry Sciences.
    Lindblad-Toh, Kerstin
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Andersson, Leif
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi.
    Whole genome resequencing reveals loci under selection during chicken domestication2010Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 464, nr 7288, s. 587-591Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Domestic animals are excellent models for genetic studies of phenotypic evolution. They have evolved genetic adaptations to a new environment, the farm, and have been subjected to strong human-driven selection leading to remarkable phenotypic changes in morphology, physiology and behaviour. Identifying the genetic changes underlying these developments provides new insight into general mechanisms by which genetic variation shapes phenotypic diversity. Here we describe the use of massively parallel sequencing to identify selective sweeps of favourable alleles and candidate mutations that have had a prominent role in the domestication of chickens (Gallus gallus domesticus) and their subsequent specialization into broiler (meat-producing) and layer (egg-producing) chickens. We have generated 44.5-fold coverage of the chicken genome using pools of genomic DNA representing eight different populations of domestic chickens as well as red jungle fowl (Gallus gallus), the major wild ancestor. We report more than 7,000,000 single nucleotide polymorphisms, almost 1,300 deletions and a number of putative selective sweeps. One of the most striking selective sweeps found in all domestic chickens occurred at the locus for thyroid stimulating hormone receptor (TSHR), which has a pivotal role in metabolic regulation and photoperiod control of reproduction in vertebrates. Several of the selective sweeps detected in broilers overlapped genes associated with growth, appetite and metabolic regulation. We found little evidence that selection for loss-of-function mutations had a prominent role in chicken domestication, but we detected two deletions in coding sequences that we suggest are functionally important. This study has direct application to animal breeding and enhances the importance of the domestic chicken as a model organism for biomedical research.

  • 178. Sahu, Kailash C.
    et al.
    Casertano, Stefano
    Bond, Howard E.
    Valenti, Jeff
    Smith, T. Ed
    Minniti, Dante
    Zoccali, Manuela
    Livio, Mario
    Panagia, Nino
    Piskunov, Nikolai
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutionen för astronomi och rymdfysik.
    Brown, Thomas M.
    Brown, Timothy
    Renzini, Alvio
    Rich, R. Michael
    Clarkson, Will
    Lubow, Stephen
    Transiting extrasolar planetary candidates in the Galactic bulge2006Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 443, nr 7111, s. 534-540Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    More than 200 extrasolar planets have been discovered around relatively nearby stars, primarily through the Doppler line shifts owing to reflex motions of their host stars, and more recently through transits of some planets across the faces of the host stars. The detection of planets with the shortest known periods, 1.2 - 2.5 days, has mainly resulted from transit surveys which have generally targeted stars more massive than 0.75 M-., where M-. is the mass of the Sun. Here we report the results from a planetary transit search performed in a rich stellar field towards the Galactic bulge. We discovered 16 candidates with orbital periods between 0.4 and 4.2 days, five of which orbit stars of masses in the range 0.44 - 0.75 M-.. In two cases, radial-velocity measurements support the planetary nature of the companions. Five candidates have orbital periods below 1.0 day, constituting a new class of ultra-short-period planets, which occur only around stars of less than 0.88 M-.. This indicates that those orbiting very close to more-luminous stars might be evaporatively destroyed or that jovian planets around stars of lower mass might migrate to smaller radii.

  • 179.
    Sanchez, Sophie
    et al.
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi. European Synchrotron Radiat Facil, 71 Ave Martyrs,CS 40220, F-38043 Grenoble, France..
    Tafforeau, Paul
    European Synchrotron Radiat Facil, 71 Ave Martyrs,CS 40220, F-38043 Grenoble, France..
    Clack, Jennifer A.
    Univ Cambridge, Univ Museum Zool, Dept Zool, Downing St, Cambridge CB2 3EJ, England..
    Ahlberg, Per E.
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för organismbiologi, Evolution och utvecklingsbiologi.
    Life history of the stem tetrapod Acanthostega revealed by synchrotron microtomography2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 537, nr 7620, s. 408-+Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The transition from fish to tetrapod was arguably the most radical series of adaptive shifts in vertebrate evolutionary history. Data are accumulating rapidly for most aspects of these events(1-5), but the life histories of the earliest tetrapods remain completely unknown, leaving a major gap in our understanding of these organisms as living animals. Symptomatic of this problem is the unspoken assumption that the largest known Devonian tetrapod fossils represent adult individuals. Here we present the first, to our knowledge, life history data for a Devonian tetrapod, from the Acanthostega mass-death deposit of Stensio Bjerg, East Greenland(6,7). Using propagation phase-contrast synchrotron microtomography (PPC-SR mu CT)(8) to visualize the histology of humeri (upper arm bones) and infer their growth histories, we show that even the largest individuals from this deposit are juveniles. A long early juvenile stage with unossified limb bones, during which individuals grew to almost final size, was followed by a slow-growing late juvenile stage with ossified limbs that lasted for at least six years in some individuals. The late onset of limb ossification suggests that the juveniles were exclusively aquatic, and the predominance of juveniles in the sample suggests segregated distributions of juveniles and adults at least at certain times. The absolute size at which limb ossification began differs greatly between individuals, suggesting the possibility of sexual dimorphism, adaptive strategies or competition-related size variation.

  • 180.
    Savolainen, Outi
    et al.
    Univ Oulu, Dept Genet & Physiol, Oulu 90014, Finland.;Univ Oulu, Bioctr Oulu, Oulu 90014, Finland..
    Lascoux, Martin
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Växtekologi och evolution.
    GENOMICS Geography matters for Arabidopsis2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 537, nr 7620, s. 314-315Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    A free database describes genome sequences, gene expression and molecular modifications to DNA for more than 1,000 Arabidopsis thaliana plants, providing valuable information on the complex history and current variation of this species.

  • 181. Sawcer, Stephen
    et al.
    Hellenthal, Garrett
    Pirinen, Matti
    Spencer, Chris C. A.
    Patsopoulos, Nikolaos A.
    Moutsianas, Loukas
    Dilthey, Alexander
    Su, Zhan
    Freeman, Colin
    Hunt, Sarah E.
    Edkins, Sarah
    Gray, Emma
    Booth, David R.
    Potter, Simon C.
    Goris, An
    Band, Gavin
    Oturai, Annette Bang
    Strange, Amy
    Saarela, Janna
    Bellenguez, Celine
    Fontaine, Bertrand
    Gillman, Matthew
    Hemmer, Bernhard
    Gwilliam, Rhian
    Zipp, Frauke
    Jayakumar, Alagurevathi
    Martin, Roland
    Leslie, Stephen
    Hawkins, Stanley
    Giannoulatou, Eleni
    D'alfonso, Sandra
    Blackburn, Hannah
    Boneschi, Filippo Martinelli
    Liddle, Jennifer
    Harbo, Hanne F.
    Perez, Marc L.
    Spurkland, Anne
    Waller, Matthew J.
    Mycko, Marcin P.
    Ricketts, Michelle
    Comabella, Manuel
    Hammond, Naomi
    Kockum, Ingrid
    McCann, Owen T.
    Ban, Maria
    Whittaker, Pamela
    Kemppinen, Anu
    Weston, Paul
    Hawkins, Clive
    Widaa, Sara
    Zajicek, John
    Dronov, Serge
    Robertson, Neil
    Bumpstead, Suzannah J.
    Barcellos, Lisa F.
    Ravindrarajah, Rathi
    Abraham, Roby
    Alfredsson, Lars
    Ardlie, Kristin
    Aubin, Cristin
    Baker, Amie
    Baker, Katharine
    Baranzini, Sergio E.
    Bergamaschi, Laura
    Bergamaschi, Roberto
    Bernstein, Allan
    Berthele, Achim
    Boggild, Mike
    Bradfield, Jonathan P.
    Brassat, David
    Broadley, Simon A.
    Buck, Dorothea
    Butzkueven, Helmut
    Capra, Ruggero
    Carroll, William M.
    Cavalla, Paola
    Celius, Elisabeth G.
    Cepok, Sabine
    Chiavacci, Rosetta
    Clerget-Darpoux, Francoise
    Clysters, Katleen
    Comi, Giancarlo
    Cossburn, Mark
    Cournu-Rebeix, Isabelle
    Cox, Mathew B.
    Cozen, Wendy
    Cree, Bruce A. C.
    Cross, Anne H.
    Cusi, Daniele
    Daly, Mark J.
    Davis, Emma
    de Bakker, Paul I. W.
    Debouverie, Marc
    D'hooghe, Marie Beatrice
    Dixon, Katherine
    Dobosi, Rita
    Dubois, Benedicte
    Ellinghaus, David
    Elovaara, Irina
    Esposito, Federica
    Fontenille, Claire
    Foote, Simon
    Franke, Andre
    Galimberti, Daniela
    Ghezzi, Angelo
    Glessner, Joseph
    Gomez, Refujia
    Gout, Olivier
    Graham, Colin
    Grant, Struan F. A.
    Guerini, Franca Rosa
    Hakonarson, Hakon
    Hall, Per
    Hamsten, Anders
    Hartung, Hans-Peter
    Heard, Rob N.
    Heath, Simon
    Hobart, Jeremy
    Hoshi, Muna
    Infante-Duarte, Carmen
    Ingram, Gillian
    Ingram, Wendy
    Islam, Talat
    Jagodic, Maja
    Kabesch, Michael
    Kermode, Allan G.
    Kilpatrick, Trevor J.
    Kim, Cecilia
    Klopp, Norman
    Koivisto, Keijo
    Larsson, Malin
    Lathrop, Mark
    Lechner-Scott, Jeannette S.
    Leone, Maurizio A.
    Leppa, Virpi
    Liljedahl, Ulrika
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär medicin. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Bomfim, Izaura Lima
    Lincoln, Robin R.
    Link, Jenny
    Liu, Jianjun
    Lorentzen, Aslaug R.
    Lupoli, Sara
    Macciardi, Fabio
    Mack, Thomas
    Marriott, Mark
    Martinelli, Vittorio
    Mason, Deborah
    McCauley, Jacob L.
    Mentch, Frank
    Mero, Inger-Lise
    Mihalova, Tania
    Montalban, Xavier
    Mottershead, John
    Myhr, Kjell-Morten
    Naldi, Paola
    Ollier, William
    Page, Alison
    Palotie, Aarno
    Pelletier, Jean
    Piccio, Laura
    Pickersgill, Trevor
    Piehl, Fredrik
    Pobywajlo, Susan
    Quach, Hong L.
    Ramsay, Patricia P.
    Reunanen, Mauri
    Reynolds, Richard
    Rioux, Johnd.
    Rodegher, Mariaemma
    Roesner, Sabine
    Rubio, Justin P.
    Rueckert, Ina-Maria
    Salvetti, Marco
    Salvi, Erika
    Santaniello, Adam
    Schaefer, Catherine A.
    Schreiber, Stefan
    Schulze, Christian
    Scott, Rodney J.
    Sellebjerg, Finn
    Selmaj, Krzysztof W.
    Sexton, David
    Shen, Ling
    Simms-Acuna, Brigid
    Skidmore, Sheila
    Sleiman, Patrick M. A.
    Smestad, Cathrine
    Sorensen, Per Soelberg
    Sondergaard, Helle Bach
    Stankovich, Jim
    Strange, Richard C.
    Sulonen, Anna-Maija
    Sundqvist, Emilie
    Syvänen, Ann-Christine
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär medicin. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Taddeo, Francesca
    Taylor, Bruce
    Blackwell, Jenefer M.
    Tienari, Pentti
    Bramon, Elvira
    Tourbah, Ayman
    Brown, Matthew A.
    Tronczynska, Ewa
    Casas, Juan P.
    Tubridy, Niall
    Corvin, Aiden
    Vickery, Jane
    Jankowski, Janusz
    Villoslada, Pablo
    Markus, Hugh S.
    Wang, Kai
    Mathew, Christopher G.
    Wason, James
    Palmer, Colin N. A.
    Wichmann, H-Erich
    Plomin, Robert
    Willoughby, Ernest
    Rautanen, Anna
    Winkelmann, Juliane
    Wittig, Michael
    Trembath, Richard C.
    Yaouanq, Jacqueline
    Viswanathan, Ananth C.
    Zhang, Haitao
    Wood, Nicholas W.
    Zuvich, Rebecca
    Deloukas, Panos
    Langford, Cordelia
    Duncanson, Audrey
    Oksenberg, Jorge R.
    Pericak-Vance, Margaret A.
    Haines, Jonathan L.
    Olsson, Tomas
    Hillert, Jan
    Ivinson, Adrian J.
    De Jager, Philip L.
    Peltonen, Leena
    Stewart, Graeme J.
    Hafler, David A.
    Hauser, Stephen L.
    McVean, Gil
    Donnelly, Peter
    Compston, Alastair
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis2011Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 476, nr 7359, s. 214-219Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.

  • 182.
    Schibich, Daniela
    et al.
    Univ Heidelberg ZMBH, Ctr Mol Biol, DKFZ ZMBH Alliance, Neuenheimer Feld 282, D-69120 Heidelberg, Germany.;German Canc Res Ctr, Neuenheimer Feld 280, D-69120 Heidelberg, Germany..
    Gloge, Felix
    Univ Heidelberg ZMBH, Ctr Mol Biol, DKFZ ZMBH Alliance, Neuenheimer Feld 282, D-69120 Heidelberg, Germany.;German Canc Res Ctr, Neuenheimer Feld 280, D-69120 Heidelberg, Germany..
    Poehner, Ina
    HITS gGmbH, Heidelberg Inst Theoret Studies, Schloss Wolfsbrunnenweg 35, D-69118 Heidelberg, Germany..
    Björkholm, Patrik
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi. Stockholm Univ, Ctr Biomembrane Res, Dept Biochem & Biophys, S-10691 Stockholm, Sweden.;Stockholm Univ, Sci Life Lab, S-17121 Solna, Sweden..
    Wade, Rebecca C.
    Univ Heidelberg ZMBH, Ctr Mol Biol, DKFZ ZMBH Alliance, Neuenheimer Feld 282, D-69120 Heidelberg, Germany.;HITS gGmbH, Heidelberg Inst Theoret Studies, Schloss Wolfsbrunnenweg 35, D-69118 Heidelberg, Germany.;Heidelberg Univ, Interdisciplinary Ctr Sci Comp IWR, Neuenheimer Feld 205, D-69120 Heidelberg, Germany..
    von Heijne, Gunnar
    Stockholm Univ, Ctr Biomembrane Res, Dept Biochem & Biophys, S-10691 Stockholm, Sweden.;Stockholm Univ, Sci Life Lab, S-17121 Solna, Sweden..
    Bukau, Bernd
    Univ Heidelberg ZMBH, Ctr Mol Biol, DKFZ ZMBH Alliance, Neuenheimer Feld 282, D-69120 Heidelberg, Germany.;German Canc Res Ctr, Neuenheimer Feld 280, D-69120 Heidelberg, Germany..
    Kramer, Guenter
    Univ Heidelberg ZMBH, Ctr Mol Biol, DKFZ ZMBH Alliance, Neuenheimer Feld 282, D-69120 Heidelberg, Germany.;German Canc Res Ctr, Neuenheimer Feld 280, D-69120 Heidelberg, Germany..
    Global profiling of SRP interaction with nascent polypeptides2016Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 536, nr 7615, s. 219-223Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Signal recognition particle (SRP) is a universally conserved protein-RNA complex that mediates co-translational protein translocation and membrane insertion by targeting translating ribosomes to membrane translocons(1). The existence of parallel co- and post-translational transport pathways(2), however, raises the question of the cellular substrate pool of SRP and the molecular basis of substrate selection. Here we determine the binding sites of bacterial SRP within the nascent proteome of Escherichia coli at amino acid resolution, by sequencing messenger RNA footprints of ribosome-nascent-chain complexes associated with SRP. SRP, on the basis of its strong preference for hydrophobic transmembrane domains (TMDs), constitutes a compartment-specific targeting factor for nascent inner membrane proteins (IMPs) that efficiently excludes signal-sequence-containing precursors of periplasmic and outer membrane proteins. SRP associates with hydrophobic TMDs enriched in consecutive stretches of hydrophobic and bulky aromatic amino acids immediately on their emergence from the ribosomal exit tunnel. By contrast with current models, N-terminal TMDs are frequently skipped and TMDs internal to the polypeptide sequence are selectively recognized. Furthermore, SRP binds several TMDs in many multi-spanning membrane proteins, suggesting cycles of SRP-mediated membrane targeting. SRP-mediated targeting is not accompanied by a transient slowdown of translation and is not influenced by the ribosome-associated chaperone trigger factor (TF), which has a distinct substrate pool and acts at different stages during translation. Overall, our proteome-wide data set of SRP-binding sites reveals the underlying principles of pathway decisions for nascent chains in bacteria, with SRP acting as the dominant triaging factor, sufficient to separate IMPs from substrates of the SecA-SecB post-translational translocation and TF-assisted cytosolic protein folding pathways.

  • 183.
    Schlebusch, Carina
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för evolution, genomik och systematik, Evolutionsbiologi.
    Issues raised by use of ethnic-group names in genome study2010Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 464, nr 7288, s. 487-487Artikkel i tidsskrift (Fagfellevurdert)
  • 184.
    Seibert, M. Marvin
    et al.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Ekeberg, Tomas
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Maia, Filipe R. N. C.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Svenda, Martin
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Andreasson, Jakob
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Joensson, Olof
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Odic, Dusko
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Iwan, Bianca
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Rocker, Andrea
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Westphal, Daniel
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Hantke, Max
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    DePonte, Daniel P.
    Barty, Anton
    Schulz, Joachim
    Gumprecht, Lars
    Coppola, Nicola
    Aquila, Andrew
    Liang, Mengning
    White, Thomas A.
    Martin, Andrew
    Caleman, Carl
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Stern, Stephan
    Abergel, Chantal
    Seltzer, Virginie
    Claverie, Jean-Michel
    Bostedt, Christoph
    Bozek, John D.
    Boutet, Sebastien
    Miahnahri, A. Alan
    Messerschmidt, Marc
    Krzywinski, Jacek
    Williams, Garth
    Hodgson, Keith O.
    Bogan, Michael J.
    Hampton, Christina Y.
    Sierra, Raymond G.
    Starodub, Dmitri
    Andersson, Inger
    Bajt, Sasa
    Barthelmess, Miriam
    Spence, John C. H.
    Fromme, Petra
    Weierstall, Uwe
    Kirian, Richard
    Hunter, Mark
    Doak, R. Bruce
    Marchesini, Stefano
    Hau-Riege, Stefan P.
    Frank, Matthias
    Shoeman, Robert L.
    Lomb, Lukas
    Epp, Sascha W.
    Hartmann, Robert
    Rolles, Daniel
    Rudenko, Artem
    Schmidt, Carlo
    Foucar, Lutz
    Kimmel, Nils
    Holl, Peter
    Rudek, Benedikt
    Erk, Benjamin
    Hoemke, Andre
    Reich, Christian
    Pietschner, Daniel
    Weidenspointner, Georg
    Strueder, Lothar
    Hauser, Guenter
    Gorke, Hubert
    Ullrich, Joachim
    Schlichting, Ilme
    Herrmann, Sven
    Schaller, Gerhard
    Schopper, Florian
    Soltau, Heike
    Kuehnel, Kai-Uwe
    Andritschke, Robert
    Schroeter, Claus-Dieter
    Krasniqi, Faton
    Bott, Mario
    Schorb, Sebastian
    Rupp, Daniela
    Adolph, Marcus
    Gorkhover, Tais
    Hirsemann, Helmut
    Potdevin, Guillaume
    Graafsma, Heinz
    Nilsson, Björn
    Chapman, Henry N.
    Hajdu, Janos
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär biofysik.
    Single mimivirus particles intercepted and imaged with an X-ray laser2011Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 470, nr 7332, s. 78-81Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    X-ray lasers offer new capabilities in understanding the structure of biological systems, complex materials and matter under extreme conditions(1-4). Very short and extremely bright, coherent X-ray pulses can be used to outrun key damage processes and obtain a single diffraction pattern from a large macromolecule, a virus or a cell before the sample explodes and turns into plasma(1). The continuous diffraction pattern of non-crystalline objects permits oversampling and direct phase retrieval(2). Here we show that high-quality diffraction data can be obtained with a single X-ray pulse from a noncrystalline biological sample, a single mimivirus particle, which was injected into the pulsed beam of a hard-X-ray free-electron laser, the Linac Coherent Light Source(5). Calculations indicate that the energy deposited into the virus by the pulse heated the particle to over 100,000 K after the pulse had left the sample. The reconstructed exit wavefront (image) yielded 32-nm full-period resolution in a single exposure and showed no measurable damage. The reconstruction indicates inhomogeneous arrangement of dense material inside the virion. We expect that significantly higher resolutions will be achieved in such experiments with shorter and brighter photon pulses focused to a smaller area. The resolution in such experiments can be further extended for samples available in multiple identical copies.

  • 185. Sellberg, J A
    et al.
    Huang, C
    McQueen, T A
    Loh, N D
    Laksmono, H
    Schlesinger, D
    Sierra, R G
    Nordlund, D
    Hampton, C Y
    Starodub, D
    DePonte, D P
    Beye, M
    Chen, C
    Martin, A V
    Barty, A
    Wikfeldt, K T
    Weiss, T M
    Caronna, C
    Feldkamp, J
    Skinner, L B
    Seibert, M M
    Linac Coherent Light Source, SLAC National Accelerator Laboratory, PO Box 20450, Stanford, California 94309, USA.
    Messerschmidt, M
    Williams, G J
    Boutet, S
    Pettersson, L G M
    Bogan, M J
    Nilsson, A
    Ultrafast X-ray probing of water structure below the homogeneous ice nucleation temperature2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 510, nr 7505, s. 381-384Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Water has a number of anomalous physical properties, and some of these become drastically enhanced on supercooling below the freezing point. Particular interest has focused on thermodynamic response functions that can be described using a normal component and an anomalous component that seems to diverge at about 228 kelvin (refs 1-3). This has prompted debate about conflicting theories that aim to explain many of the anomalous thermodynamic properties of water. One popular theory attributes the divergence to a phase transition between two forms of liquid water occurring in the 'no man's land' that lies below the homogeneous ice nucleation temperature (TH) at approximately 232 kelvin and above about 160 kelvin, and where rapid ice crystallization has prevented any measurements of the bulk liquid phase. In fact, the reliable determination of the structure of liquid water typically requires temperatures above about 250 kelvin. Water crystallization has been inhibited by using nanoconfinement, nanodroplets and association with biomolecules to give liquid samples at temperatures below TH, but such measurements rely on nanoscopic volumes of water where the interaction with the confining surfaces makes the relevance to bulk water unclear. Here we demonstrate that femtosecond X-ray laser pulses can be used to probe the structure of liquid water in micrometre-sized droplets that have been evaporatively cooled below TH. We find experimental evidence for the existence of metastable bulk liquid water down to temperatures of 227(-1)(+2) kelvin in the previously largely unexplored no man's land. We observe a continuous and accelerating increase in structural ordering on supercooling to approximately 229 kelvin, where the number of droplets containing ice crystals increases rapidly. But a few droplets remain liquid for about a millisecond even at this temperature. The hope now is that these observations and our detailed structural data will help identify those theories that best describe and explain the behaviour of water.

  • 186. Shungin, Dmitry
    et al.
    Winkler, Thomas W
    Croteau-Chonka, Damien C
    Ferreira, Teresa
    Locke, Adam E
    Mägi, Reedik
    Strawbridge, Rona J
    Pers, Tune H
    Fischer, Krista
    Justice, Anne E
    Workalemahu, Tsegaselassie
    Wu, Joseph M W
    Buchkovich, Martin L
    Heard-Costa, Nancy L
    Roman, Tamara S
    Drong, Alexander W
    Song, Ci
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Gustafsson, Stefan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Day, Felix R
    Esko, Tonu
    Fall, Tove
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Kutalik, Zoltán
    Luan, Jian'an
    Randall, Joshua C
    Scherag, André
    Vedantam, Sailaja
    Wood, Andrew R
    Chen, Jin
    Fehrmann, Rudolf
    Karjalainen, Juha
    Kahali, Bratati
    Liu, Ching-Ti
    Schmidt, Ellen M
    Absher, Devin
    Amin, Najaf
    Anderson, Denise
    Beekman, Marian
    Bragg-Gresham, Jennifer L
    Buyske, Steven
    Demirkan, Ayse
    Ehret, Georg B
    Feitosa, Mary F
    Goel, Anuj
    Jackson, Anne U
    Johnson, Toby
    Kleber, Marcus E
    Kristiansson, Kati
    Mangino, Massimo
    Mateo Leach, Irene
    Medina-Gomez, Carolina
    Palmer, Cameron D
    Pasko, Dorota
    Pechlivanis, Sonali
    Peters, Marjolein J
    Prokopenko, Inga
    Stančáková, Alena
    Ju Sung, Yun
    Tanaka, Toshiko
    Teumer, Alexander
    Van Vliet-Ostaptchouk, Jana V
    Yengo, Loïc
    Zhang, Weihua
    Albrecht, Eva
    Ärnlöv, Johan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Arscott, Gillian M
    Bandinelli, Stefania
    Barrett, Amy
    Bellis, Claire
    Bennett, Amanda J
    Berne, Christian
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Klinisk diabetologi och metabolism.
    Blüher, Matthias
    Böhringer, Stefan
    Bonnet, Fabrice
    Böttcher, Yvonne
    Bruinenberg, Marcel
    Carba, Delia B
    Caspersen, Ida H
    Clarke, Robert
    Daw, E Warwick
    Deelen, Joris
    Deelman, Ewa
    Delgado, Graciela
    Doney, Alex S F
    Eklund, Niina
    Erdos, Michael R
    Estrada, Karol
    Eury, Elodie
    Friedrich, Nele
    Garcia, Melissa E
    Giedraitis, Vilmantas
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap, Geriatrik.
    Gigante, Bruna
    Go, Alan S
    Golay, Alain
    Grallert, Harald
    Grammer, Tanja B
    Gräßler, Jürgen
    Grewal, Jagvir
    Groves, Christopher J
    Haller, Toomas
    Hallmans, Goran
    Hartman, Catharina A
    Hassinen, Maija
    Hayward, Caroline
    Heikkilä, Kauko
    Herzig, Karl-Heinz
    Helmer, Quinta
    Hillege, Hans L
    Holmen, Oddgeir
    Hunt, Steven C
    Isaacs, Aaron
    Ittermann, Till
    James, Alan L
    Johansson, Ingegerd
    Juliusdottir, Thorhildur
    Kalafati, Ioanna-Panagiota
    Kinnunen, Leena
    Koenig, Wolfgang
    Kooner, Ishminder K
    Kratzer, Wolfgang
    Lamina, Claudia
    Leander, Karin
    Lee, Nanette R
    Lichtner, Peter
    Lind, Lars
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Kardiovaskulär epidemiologi.
    Lindström, Jaana
    Lobbens, Stéphane
    Lorentzon, Mattias
    Mach, François
    Magnusson, Patrik K E
    Mahajan, Anubha
    McArdle, Wendy L
    Menni, Cristina
    Merger, Sigrun
    Mihailov, Evelin
    Milani, Lili
    Mills, Rebecca
    Moayyeri, Alireza
    Monda, Keri L
    Mooijaart, Simon P
    Mühleisen, Thomas W
    Mulas, Antonella
    Müller, Gabriele
    Müller-Nurasyid, Martina
    Nagaraja, Ramaiah
    Nalls, Michael A
    Narisu, Narisu
    Glorioso, Nicola
    Nolte, Ilja M
    Olden, Matthias
    Rayner, Nigel W
    Renstrom, Frida
    Ried, Janina S
    Robertson, Neil R
    Rose, Lynda M
    Sanna, Serena
    Scharnagl, Hubert
    Scholtens, Salome
    Sennblad, Bengt
    Seufferlein, Thomas
    Sitlani, Colleen M
    Vernon Smith, Albert
    Stirrups, Kathleen
    Stringham, Heather M
    Sundström, Johan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Kardiovaskulär epidemiologi.
    Swertz, Morris A
    Swift, Amy J
    Syvänen, Ann-Christine
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär medicin. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Tayo, Bamidele O
    Thorand, Barbara
    Thorleifsson, Gudmar
    Tomaschitz, Andreas
    Troffa, Chiara
    van Oort, Floor V A
    Verweij, Niek
    Vonk, Judith M
    Waite, Lindsay L
    Wennauer, Roman
    Wilsgaard, Tom
    Wojczynski, Mary K
    Wong, Andrew
    Zhang, Qunyuan
    Hua Zhao, Jing
    Brennan, Eoin P
    Choi, Murim
    Eriksson, Per
    Folkersen, Lasse
    Franco-Cereceda, Anders
    Gharavi, Ali G
    Hedman, Åsa K
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Hivert, Marie-France
    Huang, Jinyan
    Kanoni, Stavroula
    Karpe, Fredrik
    Keildson, Sarah
    Kiryluk, Krzysztof
    Liang, Liming
    Lifton, Richard P
    Ma, Baoshan
    McKnight, Amy J
    McPherson, Ruth
    Metspalu, Andres
    Min, Josine L
    Moffatt, Miriam F
    Montgomery, Grant W
    Murabito, Joanne M
    Nicholson, George
    Nyholt, Dale R
    Olsson, Christian
    Perry, John R B
    Reinmaa, Eva
    Salem, Rany M
    Sandholm, Niina
    Schadt, Eric E
    Scott, Robert A
    Stolk, Lisette
    Vallejo, Edgar E
    Westra, Harm-Jan
    Zondervan, Krina T
    Amouyel, Philippe
    Arveiler, Dominique
    Bakker, Stephan J L
    Beilby, John
    Bergman, Richard N
    Blangero, John
    Brown, Morris J
    Burnier, Michel
    Campbell, Harry
    Chakravarti, Aravinda
    Chines, Peter S
    Claudi-Boehm, Simone
    Collins, Francis S
    Crawford, Dana C
    Danesh, John
    de Faire, Ulf
    de Geus, Eco J C
    Dörr, Marcus
    Erbel, Raimund
    Eriksson, Johan G
    Farrall, Martin
    Ferrannini, Ele
    Ferrières, Jean
    Forouhi, Nita G
    Forrester, Terrence
    Franco, Oscar H
    Gansevoort, Ron T
    Gieger, Christian
    Gudnason, Vilmundur
    Haiman, Christopher A
    Harris, Tamara B
    Hattersley, Andrew T
    Heliövaara, Markku
    Hicks, Andrew A
    Hingorani, Aroon D
    Hoffmann, Wolfgang
    Hofman, Albert
    Homuth, Georg
    Humphries, Steve E
    Hyppönen, Elina
    Illig, Thomas
    Jarvelin, Marjo-Riitta
    Johansen, Berit
    Jousilahti, Pekka
    Jula, Antti M
    Kaprio, Jaakko
    Kee, Frank
    Keinanen-Kiukaanniemi, Sirkka M
    Kooner, Jaspal S
    Kooperberg, Charles
    Kovacs, Peter
    Kraja, Aldi T
    Kumari, Meena
    Kuulasmaa, Kari
    Kuusisto, Johanna
    Lakka, Timo A
    Langenberg, Claudia
    Le Marchand, Loic
    Lehtimäki, Terho
    Lyssenko, Valeriya
    Männistö, Satu
    Marette, André
    Matise, Tara C
    McKenzie, Colin A
    McKnight, Barbara
    Musk, Arthur W
    Möhlenkamp, Stefan
    Morris, Andrew D
    Nelis, Mari
    Ohlsson, Claes
    Oldehinkel, Albertine J
    Ong, Ken K
    Palmer, Lyle J
    Penninx, Brenda W
    Peters, Annette
    Pramstaller, Peter P
    Raitakari, Olli T
    Rankinen, Tuomo
    Rao, D C
    Rice, Treva K
    Ridker, Paul M
    Ritchie, Marylyn D
    Rudan, Igor
    Salomaa, Veikko
    Samani, Nilesh J
    Saramies, Jouko
    Sarzynski, Mark A
    Schwarz, Peter E H
    Shuldiner, Alan R
    Staessen, Jan A
    Steinthorsdottir, Valgerdur
    Stolk, Ronald P
    Strauch, Konstantin
    Tönjes, Anke
    Tremblay, Angelo
    Tremoli, Elena
    Vohl, Marie-Claude
    Völker, Uwe
    Vollenweider, Peter
    Wilson, James F
    Witteman, Jacqueline C
    Adair, Linda S
    Bochud, Murielle
    Boehm, Bernhard O
    Bornstein, Stefan R
    Bouchard, Claude
    Cauchi, Stéphane
    Caulfield, Mark J
    Chambers, John C
    Chasman, Daniel I
    Cooper, Richard S
    Dedoussis, George
    Ferrucci, Luigi
    Froguel, Philippe
    Grabe, Hans-Jörgen
    Hamsten, Anders
    Hui, Jennie
    Hveem, Kristian
    Jöckel, Karl-Heinz
    Kivimaki, Mika
    Kuh, Diana
    Laakso, Markku
    Liu, Yongmei
    März, Winfried
    Munroe, Patricia B
    Njølstad, Inger
    Oostra, Ben A
    Palmer, Colin N A
    Pedersen, Nancy L
    Perola, Markus
    Pérusse, Louis
    Peters, Ulrike
    Power, Chris
    Quertermous, Thomas
    Rauramaa, Rainer
    Rivadeneira, Fernando
    Saaristo, Timo E
    Saleheen, Danish
    Sinisalo, Juha
    Slagboom, P Eline
    Snieder, Harold
    Spector, Tim D
    Thorsteinsdottir, Unnur
    Stumvoll, Michael
    Tuomilehto, Jaakko
    Uitterlinden, André G
    Uusitupa, Matti
    van der Harst, Pim
    Veronesi, Giovanni
    Walker, Mark
    Wareham, Nicholas J
    Watkins, Hugh
    Wichmann, H-Erich
    Abecasis, Goncalo R
    Assimes, Themistocles L
    Berndt, Sonja I
    Boehnke, Michael
    Borecki, Ingrid B
    Deloukas, Panos
    Franke, Lude
    Frayling, Timothy M
    Groop, Leif C
    Hunter, David J
    Kaplan, Robert C
    O'Connell, Jeffrey R
    Qi, Lu
    Schlessinger, David
    Strachan, David P
    Stefansson, Kari
    van Duijn, Cornelia M
    Willer, Cristen J
    Visscher, Peter M
    Yang, Jian
    Hirschhorn, Joel N
    Zillikens, M Carola
    McCarthy, Mark I
    Speliotes, Elizabeth K
    North, Kari E
    Fox, Caroline S
    Barroso, Inês
    Franks, Paul W
    Ingelsson, Erik
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper, Molekylär epidemiologi. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Heid, Iris M
    Loos, Ruth J F
    Cupples, L Adrienne
    Morris, Andrew P
    Lindgren, Cecilia M
    Mohlke, Karen L
    New genetic loci link adipose and insulin biology to body fat distribution2015Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 518, nr 7538, s. 187-196Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

  • 187.
    Skiniemi, Sannako
    et al.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi.
    Virtanen, Petra
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Mikrobiologi.
    Death from within2019Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 570, nr 7762, s. 449-450Artikkel i tidsskrift (Annet vitenskapelig)
    Abstract [en]

    Some bacteria naturally transfer pieces of their DNA within and between species. Such a piece of DNA has been engineered to act as a molecular 'Trojan horse' that unleashes a toxin to selectively kill antibiotic-resistant Vibrio cholerae bacteria.

  • 188. Sladek, Robert
    et al.
    Rocheleau, Ghislain
    Rung, Johan
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Kemiska sektionen, Institutionen för fysikalisk och analytisk kemi.
    Dina, Christian
    Shen, Lishuang
    Serre, David
    Boutin, Philippe
    Vincent, Daniel
    Belisle, Alexandre
    Hadjadj, Samy
    A genome-wide association study identifies novel risk loci for type 2 diabetes2007Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 445, nr 7130, s. 881-885Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Type 2 diabetes mellitus results from the interaction of environmental factors with a combination of genetic variants, most of which were hitherto unknown. A systematic search for these variants was recently made possible by the development of high-density arrays that permit the genotyping of hundreds of thousands of polymorphisms. We tested 392,935 single-nucleotide polymorphisms in a French case-control cohort. Markers with the most significant difference in genotype frequencies between cases of type 2 diabetes and controls were fast-tracked for testing in a second cohort. This identified four loci containing variants that confer type 2 diabetes risk, in addition to confirming the known association with the TCF7L2 gene. These loci include a non-synonymous polymorphism in the zinc transporter SLC30A8, which is expressed exclusively in insulin-producing beta-cells, and two linkage disequilibrium blocks that contain genes potentially involved in beta-cell development or function (IDE-KIF11-HHEX and EXT2-ALX4). These associations explain a substantial portion of disease risk and constitute proof of principle for the genome-wide approach to the elucidation of complex genetic traits.

  • 189. Snodgrass, Colin
    et al.
    Tubiana, Cecilia
    Vincent, Jean-Baptiste
    Sierks, Holger
    Hviid, Stubbe
    Moissl, Richard
    Boehnhardt, Hermann
    Barbieri, Cesare
    Koschny, Detlef
    Lamy, Philippe
    Rickman, Hans
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutionen för fysik och astronomi, Teoretisk astrofysik.
    Rodrigo, Rafael
    Carry, Benoit
    Lowry, Stephen C.
    Laird, Ryan J. M.
    Weissman, Paul R.
    Fitzsimmons, Alan
    Marchi, Simone
    A collision in 2009 as the origin of the debris trail of asteroid P/2010 A22010Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 467, nr 7317, s. 814-816Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The peculiar object P/2010 A2 was discovered(1) in January 2010 and given a cometary designation because of the presence of a trail of material, although there was no central condensation or coma. The appearance of this object, in an asteroidal orbit (small eccentricity and inclination) in the inner main asteroid belt attracted attention as a potential new member of the recently recognized(2) class of main-belt comets. If confirmed, this new object would expand the range in heliocentric distance over which main-belt comets are found. Here we report observations of P/2010 A2 by the Rosetta spacecraft. We conclude that the trail arose from a single event, rather than a period of cometary activity, in agreement with independent results(3). The trail is made up of relatively large particles of millimetre to centimetre size that remain close to the parent asteroid. The shape of the trail can be explained by an initial impact ejecting large clumps of debris that disintegrated and dispersed almost immediately. We determine that this was an asteroid collision that occurred around 10 February 2009.

  • 190.
    Sobek, Sebastian
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för ekologi och genetik, Limnologi.
    Climate science: Cold carbon storage2014Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 511, nr 7510, s. 415-417Artikkel i tidsskrift (Annet vitenskapelig)
  • 191.
    Soubeyran, Philippe
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Ludwiginstitutet för cancerforskning.
    Kowanetz, Katarzyna
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Ludwiginstitutet för cancerforskning.
    Szymkiewcz, Iwona
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Ludwiginstitutet för cancerforskning.
    Langdon, WallaceY.
    Dikic, Ivan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Ludwiginstitutet för cancerforskning.
    Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors2002Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 416, nr 6877, s. 183-187Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cbl is a multi-adaptor protein involved in ligand-induced downregulation of receptor tyrosine kinases. It is thought that Cbl-mediated ubiquitination of active receptors is essential for receptor degradation and cessation of receptor-induced signal transduction. Here we demonstrate that Cbl additionally regulates epidermal growth factor (EGF) receptor endocytosis. Cbl rapidly recruits CIN85 (Cbl-interacting protein of 85K; ref. 6) and endophilins (regulatory components of clathrin-coated vesicles) to form a complex with activated EGF receptors, thus controlling receptor internalization. CIN85 was constitutively associated with endophilins, whereas CIN85 binding to the distal carboxy terminus of Cbl was increased on EGF stimulation. Inhibition of these interactions was sufficient to block EGF receptor internalization, delay receptor degradation and enhance EGF-induced gene transcription, without perturbing Cbl-directed receptor ubiquitination. Thus, the evolutionary divergent C terminus of Cbl uses a mechanism that is functionally separable from the ubiquitin ligase activity of Cbl to mediate ligand-dependent downregulation of receptor tyrosine kinases.

  • 192.
    Spang, Anja
    et al.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Saw, Jimmy H.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Jorgensen, Steffen L.
    Zaremba-Niedzwiedzka, Katarzyna
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Martijn, Joran
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Lind, Anders E.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    van Eijk, Roel
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Schleper, Christa
    Guy, Lionel
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinsk biokemi och mikrobiologi. Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Ettema, Thijs J. G.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Molekylär evolution. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Complex archaea that bridge the gap between prokaryotes and eukaryotes2015Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 521, nr 7551, s. 173-179Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The origin of the eukaryotic cell remains one of the most contentious puzzles in modern biology. Recent studies have provided support for the emergence of the eukaryotic host cell from within the archaeal domain of life, but the identity and nature of the putative archaeal ancestor remain a subject of debate. Here we describe the discovery of 'Lokiarchaeota', a novel candidate archaeal phylum, which forms a monophyletic group with eukaryotes in phylogenomic analyses, and whose genomes encode an expanded repertoire of eukaryotic signature proteins that are suggestive of sophisticated membrane remodelling capabilities. Our results provide strong support for hypotheses in which the eukaryotic host evolved from a bona fide archaeon, and demonstrate that many components that underpin eukaryote-specific features were already present in that ancestor. This provided the host with a rich genomic 'starter-kit' to support the increase in the cellular and genomic complexity that is characteristic of eukaryotes.

  • 193. Stone, Jennifer L.
    et al.
    O'Donovan, Michael C.
    Gurling, Hugh
    Kirov, George K.
    Blackwood, Douglas H. R.
    Corvin, Aiden
    Craddock, Nick J.
    Gill, Michael
    Hultman, Christina M.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap, Psykiatri, Akademiska sjukhuset.
    Lichtenstein, Paul
    McQuillin, Andrew
    Pato, Carlos N.
    Ruderfer, Douglas M.
    Owen, Michael J.
    St Clair, David
    Sullivan, Patrick F.
    Sklar, Pamela
    Purcell, Shaun M.
    Rare chromosomal deletions and duplications increase risk of schizophrenia2008Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 455, nr 7210, s. 237-241Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73 - 90% ( ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants ( CNVs) have been identified in individual patients with schizophrenia(2-7) and also in neurodevelopmental disorders(8-11), but large- scale genome- wide surveys have not been performed. Here we report a genome- wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high- density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15- fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single- occurrence CNVs and for those that involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo- cardio- facial syndrome, which includes psychotic symptoms in 30% of patients(12). Associations with schizophrenia were also found for large deletions on chromosome 15q13.3 and 1q21.1. These associations have not previously been reported, and they remained significant after genome- wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome- wide and at specific loci.

  • 194.
    Sund, Johan
    et al.
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi, Beräknings- och systembiologi.
    Andér, Martin
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi.
    Åqvist, Johan
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Biologiska sektionen, Institutionen för cell- och molekylärbiologi.
    Principles of stop-codon reading on the ribosome2010Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 465, nr 7300, s. 947-U12Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    In termination of protein synthesis, the bacterial release factors RF1 and RF2 bind to the ribosome through specific recognition of messenger RNA stop codons and trigger hydrolysis of the bond between the nascent polypeptide and the transfer RNA at the peptidyl-tRNA site, thereby releasing the newly synthesized protein. The release factors are highly specific for a U in the first stop-codon position 1 and recognize different combinations of purines in the second and third positions, with RF1 reading UAA and UAG and RF2 reading UAA and UGA. With recently determined crystal structures of termination complexes(2-4), it has become possible to decipher the energetics of stop-codon reading by computational analysis and to clarify the origin of the high release-factor binding accuracy. Here we report molecular dynamics free-energy calculations on different cognate and non-cognate termination complexes. The simulations quantitatively explain the basic principles of decoding in all three codon positions and reveal the key elements responsible for specificity of the release factors. The overall reading mechanism involves hitherto unidentified interactions and recognition switches that cannot be described in terms of a tripeptide anticodon model. Further simulations of complexes with tRNA(Trp), the tRNA recognizing the triplet codon for Trp, explain the observation of a 'leaky' stop codon 5 and highlight the fundamentally different third position reading by RF2, which leads to a high stop-codon specificity with strong discrimination against the Trp codon. The simulations clearly illustrate the versatility of codon reading by protein, which goes far beyond tRNA mimicry.

  • 195.
    Svedberg, The
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Filosofiska fakulteten, Matematisk-naturvetenskapliga sektionen.
    Determination of the molecular weight of insulin1931Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 127, s. 438-439Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    AT the suggestion of Dr. H. Jensen, of the Johns Hopkins University, Baltimore, an ultracentrifugal investigation of insulin has been carried out in my laboratory by Mr. B. Sjögren. A quantity of 0.25 gm. crystalline insulin was kindly put at my disposal by Dr. Jensen, and this small sample proved sufficient for a fairly complete study of the molecular weight and pH-stability region of insulin.

  • 196. Teslovich, Tanya M.
    et al.
    Musunuru, Kiran
    Smith, Albert V.
    Edmondson, Andrew C.
    Stylianou, Ioannis M.
    Koseki, Masahiro
    Pirruccello, James P.
    Ripatti, Samuli
    Chasman, Daniel I.
    Willer, Cristen J.
    Johansen, Christopher T.
    Fouchier, Sigrid W.
    Isaacs, Aaron
    Peloso, Gina M.
    Barbalic, Maja
    Ricketts, Sally L.
    Bis, Joshua C.
    Aulchenko, Yurii S.
    Thorleifsson, Gudmar
    Feitosa, Mary F.
    Chambers, John
    Orho-Melander, Marju
    Melander, Olle
    Johnson, Toby
    Li, Xiaohui
    Guo, Xiuqing
    Li, Mingyao
    Cho, Yoon Shin
    Go, Min Jin
    Kim, Young Jin
    Lee, Jong-Young
    Park, Taesung
    Kim, Kyunga
    Sim, Xueling
    Ong, Rick Twee-Hee
    Croteau-Chonka, Damien C.
    Lange, Leslie A.
    Smith, Joshua D.
    Song, Kijoung
    Zhao, Jing Hua
    Yuan, Xin
    Luan, Jian'an
    Lamina, Claudia
    Ziegler, Andreas
    Zhang, Weihua
    Zee, Robert Y. L.
    Wright, Alan F.
    Witteman, Jacqueline C. M.
    Wilson, James F.
    Willemsen, Gonneke
    Wichmann, H. -Erich
    Whitfield, John B.
    Waterworth, Dawn M.
    Wareham, Nicholas J.
    Waeber, Gerard
    Vollenweider, Peter
    Voight, Benjamin F.
    Vitart, Veronique
    Uitterlinden, Andre G.
    Uda, Manuela
    Tuomilehto, Jaakko
    Thompson, John R.
    Tanaka, Toshiko
    Surakka, Ida
    Stringham, Heather M.
    Spector, Tim D.
    Soranzo, Nicole
    Smit, Johannes H.
    Sinisalo, Juha
    Silander, Kaisa
    Sijbrands, Eric J. G.
    Scuteri, Angelo
    Scott, James
    Schlessinger, David
    Sanna, Serena
    Salomaa, Veikko
    Saharinen, Juha
    Sabatti, Chiara
    Ruokonen, Aimo
    Rudan, Igor
    Rose, Lynda M.
    Roberts, Robert
    Rieder, Mark
    Psaty, Bruce M.
    Pramstaller, Peter P.
    Pichler, Irene
    Perola, Markus
    Penninx, Brenda W. J. H.
    Pedersen, Nancy L.
    Pattaro, Cristian
    Parker, Alex N.
    Pare, Guillaume
    Oostra, Ben A.
    O'Donnell, Christopher J.
    Nieminen, Markku S.
    Nickerson, Deborah A.
    Montgomery, Grant W.
    Meitinger, Thomas
    McPherson, Ruth
    McCarthy, Mark I.
    McArdle, Wendy
    Masson, David
    Martin, Nicholas G.
    Marroni, Fabio
    Mangino, Massimo
    Magnusson, Patrik K. E.
    Lucas, Gavin
    Luben, Robert
    Loos, Ruth J. F.
    Lokki, Marja-Liisa
    Lettre, Guillaume
    Langenberg, Claudia
    Launer, Lenore J.
    Lakatta, Edward G.
    Laaksonen, Reijo
    Kyvik, Kirsten O.
    Kronenberg, Florian
    Koenig, Inke R.
    Khaw, Kay-Tee
    Kaprio, Jaakko
    Kaplan, Lee M.
    Johansson, Åsa
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Jarvelin, Marjo-Riitta
    Janssens, A. Cecile J. W.
    Ingelsson, Erik
    Igi, Wilmar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Hovingh, G. Kees
    Hottenga, Jouke-Jan
    Hofman, Albert
    Hicks, Andrew A.
    Hengstenberg, Christian
    Heid, Iris M.
    Hayward, Caroline
    Havulinna, Aki S.
    Hastie, Nicholas D.
    Harris, Tamara B.
    Haritunians, Talin
    Hall, Alistair S.
    Gyllensten, Ulf
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Guiducci, Candace
    Groop, Leif C.
    Gonzalez, Elena
    Gieger, Christian
    Freimer, Nelson B.
    Ferrucci, Luigi
    Erdmann, Jeanette
    Elliott, Paul
    Ejebe, Kenechi G.
    Doering, Angela
    Dominiczak, Anna F.
    Demissie, Serkalem
    Deloukas, Panagiotis
    de Geus, Eco J. C.
    de Faire, Ulf
    Crawford, Gabriel
    Collins, Francis S.
    Chen, Yii-der I.
    Caulfield, Mark J.
    Campbell, Harry
    Burtt, Noel P.
    Bonnycastle, Lori L.
    Boomsma, Dorret I.
    Boekholdt, S. Matthijs
    Bergman, Richard N.
    Barroso, Ines
    Bandinelli, Stefania
    Ballantyne, Christie M.
    Assimes, Themistocles L.
    Quertermous, Thomas
    Altshuler, David
    Seielstad, Mark
    Wong, Tien Y.
    Tai, E-Shyong
    Feranil, Alan B.
    Kuzawa, Christopher W.
    Adair, Linda S.
    Taylor, Herman A., Jr.
    Borecki, Ingrid B.
    Gabriel, Stacey B.
    Wilson, James G.
    Holm, Hilma
    Thorsteinsdottir, Unnur
    Gudnason, Vilmundur
    Krauss, Ronald M.
    Mohlke, Karen L.
    Ordovas, Jose M.
    Munroe, Patricia B.
    Kooner, Jaspal S.
    Tall, Alan R.
    Hegele, Robert A.
    Kastelein, John J. P.
    Schadt, Eric E.
    Rotter, Jerome I.
    Boerwinkle, Eric
    Strachan, David P.
    Mooser, Vincent
    Stefansson, Kari
    Reilly, Muredach P.
    Samani, Nilesh J.
    Schunkert, Heribert
    Cupples, L. Adrienne
    Sandhu, Manjinder S.
    Ridker, Paul M.
    Rader, Daniel J.
    van Duijn, Cornelia M.
    Peltonen, Leena
    Abecasis, Goncalo R.
    Boehnke, Michael
    Kathiresan, Sekar
    Biological, clinical and population relevance of 95 loci for blood lipids2010Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 466, nr 7307, s. 707-713Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P<5 x 10(-8)), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.

  • 197. Thompson, Deborah J
    et al.
    Genovese, Giulio
    Halvardson, Jonatan
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Ulirsch, Jacob C
    Wright, Daniel J
    Terao, Chikashi
    Davidsson, Olafur B
    Day, Felix R
    Sulem, Patrick
    Jiang, Yunxuan
    Danielsson, Marcus
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    Davies, Hanna
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Dennis, Joe
    Dunlop, Malcolm G
    Easton, Douglas F
    Fisher, Victoria A
    Zink, Florian
    Houlston, Richard S
    Ingelsson, Martin
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap, Geriatrik.
    Kar, Siddhartha
    Kerrison, Nicola D
    Kinnersley, Ben
    Kristjansson, Ragnar P
    Law, Philip J
    Li, Rong
    Loveday, Chey
    Mattisson, Jonas
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik. Uppsala universitet, Science for Life Laboratory, SciLifeLab.
    McCarroll, Steven A
    Murakami, Yoshinori
    Murray, Anna
    Olszewski, Pawel
    Rychlicka-Buniowska, Edyta
    Scott, Robert A
    Thorsteinsdottir, Unnur
    Tomlinson, Ian
    Moghadam, Behrooz Torabi
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för medicinska vetenskaper. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Turnbull, Clare
    Wareham, Nicholas J
    Gudbjartsson, Daniel F
    Kamatani, Yoichiro
    Hoffmann, Eva R
    Jackson, Steve P
    Stefansson, Kari
    Auton, Adam
    Ong, Ken K
    Machiela, Mitchell J
    Loh, Po-Ru
    Dumanski, Jan P.
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Chanock, Stephen J
    Forsberg, Lars A.
    Uppsala universitet, Science for Life Laboratory, SciLifeLab. Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Medicinsk genetik och genomik.
    Perry, John R B
    Genetic predisposition to mosaic Y chromosome loss in blood.2019Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common form of clonal mosaicism1-5, yet our knowledge of the causes and consequences of this is limited. Here, using a computational approach, we estimate that 20% of the male population represented in the UK Biobank study (n = 205,011) has detectable LOY. We identify 156 autosomal genetic determinants of LOY, which we replicate in 757,114 men of European and Japanese ancestry. These loci highlight genes that are involved in cell-cycle regulation and cancer susceptibility, as well as somatic drivers of tumour growth and targets of cancer therapy. We demonstrate that genetic susceptibility to LOY is associated with non-haematological effects on health in both men and women, which supports the hypothesis that clonal haematopoiesis is a biomarker of genomic instability in other tissues. Single-cell RNA sequencing identifies dysregulated expression of autosomal genes in leukocytes with LOY and provides insights into why clonal expansion of these cells may occur. Collectively, these data highlight the value of studying clonal mosaicism to uncover fundamental mechanisms that underlie cancer and other ageing-related diseases.

  • 198.
    Tiselius, Arne
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Filosofiska fakulteten, Matematisk-naturvetenskapliga sektionen.
    Diffusion of water in a zeolite crystal1934Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 133, s. 212-213Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    I have made an attempt to study this migration quantitatively. For this purpose I have chosen an optical method, which makes a direct observation of the migration possible.

  • 199.
    Vanlandewijck, Michael
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi. Karolinska Inst, AstraZeneca Integrated Cardio Metab Ctr KI AZ ICM, Blickagangen 6, SE-14157 Huddinge, Sweden..
    He, Liqun
    Tianjin Med Univ, Key Lab Postneuroinjury Neurorepair & Regenerat C, Dept Neurosurg,Gen Hosp, Tianjin Neurol Inst,Minist Educ & Tianjin City, Tianjin 300052, Peoples R China..
    Mäe, Maarja Andaloussi
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Andrae, Johanna
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Ando, Koji
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Del Gaudio, Francesca
    Karolinska Inst, Dept Cell & Mol Biol, Von Eulers Vag 3, SE-17177 Stockholm, Sweden..
    Nahar, Khayrun
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Lebouvier, Thibaud
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi. Univ Lille, CHU,Memory Ctr, Distalz, Inserm,U1171, F-59000 Lille, France..
    Laviña, Bàrbara
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Gouveia, Maria Leonor Seguardo
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi.
    Sun, Ying
    Zhongyuan Union Genet Technol Co Ltd, Dept Bioinformat, Tianjin Airport Econ Area, 45 9th East Rd, Tianjin 300304, Peoples R China..
    Raschpergert, Elisabeth
    Karolinska Inst, AstraZeneca Integrated Cardio Metab Ctr KI AZ ICM, Blickagangen 6, SE-14157 Huddinge, Sweden..
    Räsänen, Markus
    Univ Helsinki, Wihuri Res Inst, Haartmaninkatu 8,POB 63, FI-00014 Helsinki, Finland.;Univ Helsinki, Translat Canc Biol Program, Biomedicum Helsinki, Haartmaninkatu 8,POB 63, FI-00014 Helsinki, Finland..
    Zarb, Yvette
    Zurich Univ, Univ Zurich Hosp, Div Neurosurg, CH-8091 Zurich, Switzerland..
    Mochizuki, Naoki
    Natl Cerebral & Cardiovasc Ctr, Dept Cell Biol, Res Inst, Suita, Osaka, Japan.;Natl Cerebral & Cardiovasc Ctr, AMED CREST, Suita, Osaka, Japan..
    Keller, Annika
    Zurich Univ, Univ Zurich Hosp, Div Neurosurg, CH-8091 Zurich, Switzerland..
    Lendahl, Urban
    Karolinska Inst, Dept Cell & Mol Biol, Von Eulers Vag 3, SE-17177 Stockholm, Sweden..
    Betsholtz, Christer
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för immunologi, genetik och patologi, Vaskulärbiologi. Karolinska Inst, AstraZeneca Integrated Cardio Metab Ctr KI AZ ICM, Blickagangen 6, SE-14157 Huddinge, Sweden.
    A molecular atlas of cell types and zonation in the brain vasculature2018Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 554, nr 7693, s. 475-480Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cerebrovascular disease is the third most common cause of death in developed countries, but our understanding of the cells that compose the cerebral vasculature is limited. Here, using vascular single-cell transcriptomics, we provide molecular definitions for the principal types of blood vascular and vessel-associated cells in the adult mouse brain. We uncover the transcriptional basis of the gradual phenotypic change (zonation) along the arteriovenous axis and reveal unexpected cell type differences: a seamless continuum for endothelial cells versus a punctuated continuum for mural cells. We also provide insight into pericyte organotypicity and define a population of perivascular fibroblast-like cells that are present on all vessel types except capillaries. Our work illustrates the power of single-cell transcriptomics to decode the higher organizational principles of a tissue and may provide the initial chapter in a molecular encyclopaedia of the mammalian vasculature.

  • 200. Vincent, Jean-Baptiste
    et al.
    Bodewits, Dennis
    Besse, Sebastien
    Sierks, Holger
    Barbieri, Cesare
    Lamy, Philippe
    Rodrigo, Rafael
    Koschny, Detlef
    Rickman, Hans
    Uppsala universitet, Teknisk-naturvetenskapliga vetenskapsområdet, Fysiska sektionen, Institutionen för fysik och astronomi, Teoretisk astrofysik.
    Keller, Horst Uwe
    Agarwal, Jessica
    A'Hearn, Michael F.
    Auger, Anne-Therese
    Barucci, M. Antonella
    Bertaux, Jean-Loup
    Bertini, Ivano
    Capanna, Claire
    Cremonese, Gabriele
    Da Deppo, Vania
    Davidsson, Bjoern
    Debei, Stefano
    De Cecco, Mariolino
    El-Maarry, Mohamed Ramy
    Ferri, Francesca
    Fornasier, Sonia
    Fulle, Marco
    Gaskell, Robert
    Giacomini, Lorenza
    Groussin, Olivier
    Guilbert-Lepoutre, Aurelie
    Gutierrez-Marques, P.
    Gutierrez, Pedro J.
    Guettler, Carsten
    Hoekzema, Nick
    Hoefner, Sebastian
    Hviid, Stubbe F.
    Ip, Wing-Huen
    Jorda, Laurent
    Knollenberg, Joerg
    Kovacs, Gabor
    Kramm, Rainer
    Kuehrt, Ekkehard
    Kueppers, Michael
    La Forgia, Fiorangela
    Lara, Luisa M.
    Lazzarin, Monica
    Lee, Vicky
    Leyrat, Cedric
    Lin, Zhong-Yi
    Lopez Moreno, Jose J.
    Lowry, Stephen
    Magrin, Sara
    Maquet, Lucie
    Marchi, Simone
    Marzari, Francesco
    Massironi, Matteo
    Michalik, Harald
    Moissl, Richard
    Mottola, Stefano
    Naletto, Giampiero
    Oklay, Nilda
    Pajola, Maurizio
    Preusker, Frank
    Scholten, Frank
    Thomas, Nicolas
    Toth, Imre
    Tubiana, Cecilia
    Large heterogeneities in comet 67P as revealed by active pits from sinkhole collapse2015Inngår i: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 523, nr 7558, s. 63-66Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Pits have been observed on many cometary nuclei mapped by spacecraft(1-4). It has been argued that cometary pits are a signature of endogenic activity, rather than impact craters such as those on planetary and asteroid surfaces. Impact experiments(5,6) andmodels(7,8) cannot reproduce the shapes of most of the observed cometary pits, and the predicted collision rates imply that few of the pits are related to impacts(8,9). Alternative mechanisms like explosive activity(10) have been suggested, but the driving process remains unknown. Here we report that pits on comet 67P/Churyumov-Gerasimenko are active, and probably created by a sinkhole process, possibly accompanied by outbursts. We argue that after formation, pits expand slowly in diameter, owing to sublimation-driven retreat of the walls. Therefore, pits characterize how eroded the surface is: a fresh cometary surface will have a ragged structure with many pits, while an evolved surface will look smoother. The size and spatial distribution of pits imply that large heterogeneities exist in the physical, structural or compositional properties of the first few hundred metres below the current nucleus surface.

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