uu.seUppsala University Publications
Change search
Refine search result
1 - 45 of 45
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Rows per page
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sort
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
Select
The maximal number of hits you can export is 250. When you want to export more records please use the Create feeds function.
  • 1.
    Ausmees, Kristiina
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Division of Scientific Computing. Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Computational Science.
    Sanchez-Quinto, Federico
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Nettelblad, Carl
    Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Division of Scientific Computing. Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Computational Science.
    An empirical evaluation of genotype imputation of ancient DNA2019Report (Other academic)
  • 2.
    Coutinho, Alexandra
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Where our feet have taken us: Examples of human contact, migration, and adaptation as revealed by ancient DNA2019Doctoral thesis, comprehensive summary (Other academic)
    Abstract [en]

    In spite of our extensive knowledge of the human past, certain key questions remain to be answered about human prehistory. One involves the nature of cultural change in material culture through time from the perspective of how different ancient human groups interacted with one another. The other is how humans have adapted to the different environments as they migrated and populated the rest of the world from their origin in Africa. For my thesis I have investigated examples of human evolutionary history using genetic information from ancient human remains. Chapter 1 focused on the nature of possible interaction between the Pitted Ware Culture (PWC) and Battle Axe Culture (BAC) on the island of Gotland, in the Baltic Sea. Through the analysis of 4500 year old human remains from three PWC burial sites, I found that the existence of BAC influences in these burial sites was the result of cultural and not demic influence from the BAC. In chapter 2, I investigated the ancestry of a Late Stone Age individual from the southwestern Cape of South Africa. Population genetic analyses revealed that this individual was genetically affiliated with Khoe groups in southern Africa, a genetic make-up that is today absent from the Cape. Chapter 3 investigated the genetic landscape of prehistoric individuals from southern Africa. Specifically, I explored frequencies of adaptive variants between Late Stone Age and Iron Age individuals. I found an increase in disease resistance alleles in Iron Age individuals and attributed this to the effects of the Bantu expansion. Chapter 4 incorporated a wider range of trait-associated variants among a greater number of modern-day populations and ancient individuals in Africa. I found that many allele frequency patterns found in modern populations follow the routes of major migrations which took place in the African Holocene. The thesis attests to the complexity of human demographic history in general, and how migration contributes to adaptation by dispersing novel adaptive variants to populations.

    List of papers
    1. The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders
    Open this publication in new window or tab >>The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herders
    Show others...
    (English)Manuscript (preprint) (Other academic)
    Abstract [en]

    The 3rd millennium BCE was a period of marked cultural and demographic developments in Europe. Here we sequence genome data from human skeletal remains to study the interaction between two Scandinavian cultures; the hunter-gatherer Pitted Ware culture (PWC, 3400-2400 BCE) and the farmer/herder Battle Axe culture (BAC, 2800-2300 BCE), two cultures who have been found to be represented by distinct gene-pools in northern Europe. We focus on the Baltic island of Gotland that presents Scandinavia’s richest record of PWC gravesites where the majority of individuals are buried in typical PWC manner (supine position), but with some burials indicating BAC influences (either hocker position burial or burials with BAC associated artifacts). We sequenced and analyzed the genomes of 25 individuals of both types of burials excavated in three gravesites in order to determine if the different burial styles were associated with the different gene-pools (PWC or BAC) at the time. The genomic data show that all individuals belonged to one genetic population – that of the PWC – irrespective of the burial style. We conclude that the PWC communities on the island of Gotland were culturally influenced by the BAC society, without any signs of gene-flow.

    National Category
    Evolutionary Biology
    Research subject
    Biology with Specialisation in Human Evolution and Genetics
    Identifiers
    urn:nbn:se:uu:diva-397180 (URN)
    Funder
    Swedish Research Council, 2017-02503
    Available from: 2019-11-17 Created: 2019-11-17 Last updated: 2019-11-18
    2. Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groups
    Open this publication in new window or tab >>Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groups
    Show others...
    (English)Manuscript (preprint) (Other academic)
    Abstract [en]

    The indigenous people of the southern Cape of South Africa were dramatically impacted by the arrival of European colonists starting to arrive some 400 years ago and their descendants are today mixed with Europeans and Asians. Here we sequence and analyze the genome (1.01 times coverage) of a Later Stone Age individual, who lived about 200 years ago, obtained from a hair sample excavated at Vaalkrans Shelter southern Cape, South Africa. We analyzed this genome, along with genetic data from 10 prehistoric individuals from southern Africa spanning the last 2000 years. Our results show that the individual from Vaalkrans was a man who traced ~80% of his ancestry to local southern San hunter-gatherer populations, and ~20% to a mixed East African-Eurasian source. This genetic make-up is very similar to modern-day Khoekhoe individuals from South Africa and Namibia. The Vaalkrans man’s genome reveals how the Holocene pastoralist migration event shaped the genomic landscape of historic and current southern African populations and shows that Khoekhoe groups lived in the southern Cape as late as 200 years ago.

    National Category
    Evolutionary Biology
    Research subject
    Biology with Specialisation in Human Evolution and Genetics
    Identifiers
    urn:nbn:se:uu:diva-397032 (URN)
    Available from: 2019-11-18 Created: 2019-11-18 Last updated: 2019-11-18
    3. Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
    Open this publication in new window or tab >>Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago
    Show others...
    2017 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 358, no 6363, p. 652-655Article in journal (Refereed) Published
    Abstract [en]

    Southern Africa is consistently placed as a potential region for the evolution of Homo sapiens We present genome sequences, up to 13x coverage, from seven ancient individuals from KwaZulu-Natal, South Africa. The remains of three Stone Age hunter-gatherers (about 2000 years old) were genetically similar to current-day southern San groups, and those of four Iron Age farmers (300 to 500 years old) were genetically similar to present-day Bantu-language speakers. We estimate that all modern-day Khoe-San groups have been influenced by 9 to 30% genetic admixture from East Africans/Eurasians. Using traditional and new approaches, we estimate the first modern human population divergence time to between 350,000 and 260,000 years ago. This estimate increases the deepest divergence among modern humans, coinciding with anatomical developments of archaic humans into modern humans, as represented in the local fossil record.

    National Category
    Archaeology Evolutionary Biology Genetics
    Identifiers
    urn:nbn:se:uu:diva-334636 (URN)10.1126/science.aao6266 (DOI)000414240500038 ()28971970 (PubMedID)
    Funder
    Swedish Research Council, 642-2013-8019; 621-2014-5211Knut and Alice Wallenberg FoundationGöran Gustafsson Foundation for promotion of scientific research at Uppala University and Royal Institute of TechnologyThe Wenner-Gren Foundation
    Note

    Carina M. Schlebusch and Helena Malmström contributed equally to this work

    Available from: 2017-11-24 Created: 2017-11-24 Last updated: 2020-03-05Bibliographically approved
    4. The Evolution of Adaptive traits in Indigenous human populations in Sub-Saharan Africa
    Open this publication in new window or tab >>The Evolution of Adaptive traits in Indigenous human populations in Sub-Saharan Africa
    (English)Manuscript (preprint) (Other academic)
    Abstract [en]

    Several well-known genetic variants that confer disease resistance or other adaptive advantages have been investigated in modern-day populations across the globe. In particular, sub-Saharan African populations display variation for many of these loci. In this study, we investigate allele frequencies underlying functional variants of interest in sub-Saharan African populations. By also investigating sequence data from ancient human remains from excavated sites in sub-Saharan Africa, we can start to get an indication of the allele frequency trajectories of adaptive variants, how they have diffused through the African genetic landscape, and how much migration and admixture played a role in the distribution of these variants in modern-day African populations. Our results show that as well as selection, migration has had a large influence on changing allele frequency through time in variants associated with disease resistance, salt sensitivity and metabolism. Yet in other variants, such as some associated with skin pigmentation, allele frequencies have changed little over time. Lastly, this study emphasizes the need for continued study of African populations, as due to the sheer genetic diversity present in Africa, different functional variants may confer similar means of adaptation than those we know for out-of-Africa populations. This study is the first to comprehensively investigate adaptive variants in both ancient and modern Africans, and further research will continue to reveal how the genetic landscape of modern humans has changed, and continues to change through time.

    National Category
    Evolutionary Biology
    Research subject
    Biology with Specialisation in Human Evolution and Genetics
    Identifiers
    urn:nbn:se:uu:diva-397169 (URN)
    Available from: 2019-11-16 Created: 2019-11-16 Last updated: 2019-11-18
  • 3.
    Coutinho, Alexandra
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Edlund, Hanna
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Henshilwood, Christopher
    Institutt for arkeologi, historie, kultur- og religionsvitenskap, Universitetet i Bergen.
    van Niekerk, Karen
    Department of Archaeology, History, Cultural Studies and Religion, Universitetet i Bergen.
    Lombard, Marlize
    Department of Anthropology and Development Studies, University of Johannesburg.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Later Stone Age human hair from Vaalkrans Shelter, Cape Floristic Region of South Africa, reveals genetic affinity to Khoe groupsManuscript (preprint) (Other academic)
    Abstract [en]

    The indigenous people of the southern Cape of South Africa were dramatically impacted by the arrival of European colonists starting to arrive some 400 years ago and their descendants are today mixed with Europeans and Asians. Here we sequence and analyze the genome (1.01 times coverage) of a Later Stone Age individual, who lived about 200 years ago, obtained from a hair sample excavated at Vaalkrans Shelter southern Cape, South Africa. We analyzed this genome, along with genetic data from 10 prehistoric individuals from southern Africa spanning the last 2000 years. Our results show that the individual from Vaalkrans was a man who traced ~80% of his ancestry to local southern San hunter-gatherer populations, and ~20% to a mixed East African-Eurasian source. This genetic make-up is very similar to modern-day Khoekhoe individuals from South Africa and Namibia. The Vaalkrans man’s genome reveals how the Holocene pastoralist migration event shaped the genomic landscape of historic and current southern African populations and shows that Khoekhoe groups lived in the southern Cape as late as 200 years ago.

  • 4.
    Coutinho, Alexandra
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Munters, Arielle
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Svensson, Emma
    Area Offices, Office of Technology and Science; The Student Service Unit.
    Götherström, Anders
    Department of Archaeology and Classical Studies, Stockholm University.
    Storå, Jan
    Department of Archaeology and Classical Studies, Stockholm University.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    The Neolithic Pitted Ware culture foragers were culturally but not genetically influenced by the Battle Axe culture herdersManuscript (preprint) (Other academic)
    Abstract [en]

    The 3rd millennium BCE was a period of marked cultural and demographic developments in Europe. Here we sequence genome data from human skeletal remains to study the interaction between two Scandinavian cultures; the hunter-gatherer Pitted Ware culture (PWC, 3400-2400 BCE) and the farmer/herder Battle Axe culture (BAC, 2800-2300 BCE), two cultures who have been found to be represented by distinct gene-pools in northern Europe. We focus on the Baltic island of Gotland that presents Scandinavia’s richest record of PWC gravesites where the majority of individuals are buried in typical PWC manner (supine position), but with some burials indicating BAC influences (either hocker position burial or burials with BAC associated artifacts). We sequenced and analyzed the genomes of 25 individuals of both types of burials excavated in three gravesites in order to determine if the different burial styles were associated with the different gene-pools (PWC or BAC) at the time. The genomic data show that all individuals belonged to one genetic population – that of the PWC – irrespective of the burial style. We conclude that the PWC communities on the island of Gotland were culturally influenced by the BAC society, without any signs of gene-flow.

  • 5.
    Coutinho, Alexandra
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    The Evolution of Adaptive traits in Indigenous human populations in Sub-Saharan AfricaManuscript (preprint) (Other academic)
    Abstract [en]

    Several well-known genetic variants that confer disease resistance or other adaptive advantages have been investigated in modern-day populations across the globe. In particular, sub-Saharan African populations display variation for many of these loci. In this study, we investigate allele frequencies underlying functional variants of interest in sub-Saharan African populations. By also investigating sequence data from ancient human remains from excavated sites in sub-Saharan Africa, we can start to get an indication of the allele frequency trajectories of adaptive variants, how they have diffused through the African genetic landscape, and how much migration and admixture played a role in the distribution of these variants in modern-day African populations. Our results show that as well as selection, migration has had a large influence on changing allele frequency through time in variants associated with disease resistance, salt sensitivity and metabolism. Yet in other variants, such as some associated with skin pigmentation, allele frequencies have changed little over time. Lastly, this study emphasizes the need for continued study of African populations, as due to the sheer genetic diversity present in Africa, different functional variants may confer similar means of adaptation than those we know for out-of-Africa populations. This study is the first to comprehensively investigate adaptive variants in both ancient and modern Africans, and further research will continue to reveal how the genetic landscape of modern humans has changed, and continues to change through time.

  • 6.
    Cubas, Miriam
    et al.
    University of York, York, UK; Sociedad de Ciencias Aranzadi, Donostia, San Sebastian, Spain.
    Peyroteo Stjerna, Rita
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. University of Lisbon, Lisbon, Portugal.
    Fontanals-Coll, Maria
    University of York, York, UK.
    Llorente-Rodríguez, Laura
    Universiteit Leiden, Leiden, Netherlands.
    Lucquin, Alexandre
    University of York, York, UK.
    Craig, Oliver Edward
    University of York, York, UK.
    Colonese, André Carlo
    University of York, York, UK.
    Long-term dietary change in Atlantic and Mediterranean Iberia with the introduction of agriculture: a stable isotope perspective2019In: Archaeological and Anthropological Sciences, ISSN 1866-9557, E-ISSN 1866-9565, Vol. 11, no 8, p. 3825-3836Article in journal (Refereed)
    Abstract [en]

    The Neolithic expansion in the Iberian Peninsula is marked by the introduction of livestock and domesticated crops which modified subsistence strategies in an unprecedented manner. Bulk collagen stable carbon and nitrogen isotope analysis has been essential to track these changes, which have largely been discussed in relation to particular geographic areas or single case studies. This paper reviews the available isotope literature to provide a regional, long-term synthesis of dietary changes associated with the expansion of the Neolithic and the establishment of farming economy in the Iberian Peninsula. Bulk collagen stable carbon and nitrogen isotope values of 763 human individuals and 283 faunal remains from the Mesolithic to the Late Neolithic period in Iberia (ca. 8000–3000 cal BC) were collated and analysed using a Bayesian mixing model. The results show that Mesolithic diets were isotopically diverse in both the Atlantic and Mediterranean regions of the Iberian Peninsula, and that a significant decrease in variability happened with the Neolithisation, culminating with the establishment of farming economies and reliance on terrestrial resources in the Late Neolithic.

  • 7.
    Fortes-Lima, Cesar A.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Evolutionary Biology Centre, Uppsala University.
    Unraveling African diversity from a cross‐disciplinary perspective2019In: Evolutionary AnthropologyArticle in journal (Refereed)
  • 8.
    Fraser, Magdalena
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Sanchez-Quinto, Federico
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Evans, Jane
    Natural Environment Research Council, Isotope Geosciences Laboratory, British Geological Survey, Keyworth, Nottingham NG12 5GG, UK.
    Storå, Jan
    Osteoarchaeological Research Laboratory, Department of Archaeology and Classical Studies, Stockholm University, SE-106 91 Stockholm, Sweden.
    Götherström, Anders
    Archaeological Research Laboratory, Department of Archaeology and Classical Studies, Stockholm University, SE-106 91 Stockholm, Sweden.
    Wallin, Paul
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Knutsson, Kjel
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    New insights on cultural dualism and population structure in the MiddleNeolithic Funnel Beaker culture on the island of Gotland2018In: Journal of Archaeological Science: Reports, ISSN 2352-409X, E-ISSN 2352-4103, Vol. 17, p. 325-334Article in journal (Refereed)
    Abstract [en]

    In recent years it has been shown that the Neolithization of Europe was partly driven by migration of farming groups admixing with local hunter-gatherer groups as they dispersed across the continent. However, little research has been done on the cultural duality of contemporaneous foragers and farming populations in the same region. Here we investigate the demographic history of the Funnel Beaker culture [Trichterbecherkultur or TRB, c. 4000–2800 cal BCE], and the sub-Neolithic Pitted Ware culture complex [PWC, c. 3300–2300 cal BCE] during the Nordic Middle Neolithic period on the island of Gotland, Sweden. We use a multidisciplinary approach to investigate individuals buried in the Ansarve dolmen, the only confirmed TRB burial on the island. We present new radiocarbon dating, isotopic analyses for diet and mobility, and mitochondrial DNA haplogroup data to infer maternal inheritance. We also present a new Sr-baseline of 0.71208 ± 0.0016 for the local isotope variation. We compare and discuss our findings together with that of contemporaneous populations in Sweden and the North European mainland.

    The radiocarbon dating and Strontium isotopic ratios show that the dolmen was used between c. 3300–2700 cal BCE by a population which displayed local Sr-signals. Mitochondrial data show that the individuals buried in the Ansarve dolmen had maternal genetic affinity to that of other Early and Middle Neolithic farming cultures in Europe, distinct from that of the contemporaneous PWC on the island. Furthermore, they exhibited a strict terrestrial and/or slightly varied diet in contrast to the strict marine diet of the PWC. The findings indicate that two different contemporary groups coexisted on the same island for several hundred years with separate cultural identity, lifestyles, as well as dietary patterns.

  • 9.
    Fraser, Magdalena
    et al.
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Sjödin, Per
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Sanchez-Quinto, Federico
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Evans, Jane
    Natural Environment Research Council, Isotope Geosciences Laboratory, British Geological Survey, Keyworth, Nottingham NG12 5GG, UK.
    Svedjemo, Gustaf
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Knutsson, Kjel
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Götherström, Anders
    Archaeological Research Laboratory, Department of Archaeology and Classical Studies, Stockholm University, SE-106 91 Stockholm, Sweden.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Wallin, Paul
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Storå, Jan
    Osteoarchaeological Research Laboratory, Department of Archaeology and Classical Studies, Stockholm University, SE-106 91 Stockholm, Sweden.
    The Stone Cist Conundrum: A multidisciplinary approach to investigate Late Neolithic/ Early Bronze Age population demography on the Island of Gotland2018In: Journal of Archaeological Science: Reports, ISSN 2352-409X, E-ISSN 2001-1199, Vol. 20, p. 324-337Article in journal (Refereed)
    Abstract [en]

    The Late Neolithic period in Scandinavia [LN, c. 2350-1700 cal BCE] marks a time of considerable changes in settlement patterns, economy, and material culture. This shift also lays the foundation for the demographic developments in the Early Bronze Age [EBA, c. 1700-1100 cal BCE]. However, little is presently known regarding the developments from these time-periods on the island of Gotland in the Baltic Sea. During the Middle Neolithic period [MN, c. 3300-2350 cal BCE], Gotland was inhabited by groups associated with the Funnel Beaker culture [TRB, c. 4000-2700 cal BCE], and the sub-Neolithic Pitted Ware culture [PWC, c. 3300-2300 cal BCE]. Some indications of connections with the Bathe Axe/Corded Ware cultures [BAC/CWC, c. 2800-2300 cal BCE] have also been found, but no typical BAC/CWC burials have been located on the island to date. Here, we investigate the chronological and internal relationship of twenty-three individuals buried in four LN/EBA stone cist burials; Haffinds, Hagur, Suderkvie, and Utalskog on Gotland. We present eleven mitochondrial genomes [from 23 X to 1271 X coverage], and twenty-three new radiocarbon dates, as well as stable isotope data for diet. We examine the local Sr-baseline range for Gotland, and present new Sr-data to discuss mobility patterns of the individuals. The genetic results are compared and discussed in light of earlier cultural periods from Gotland [TRB and PWC], and CWC from the European continent, as well as contemporaneous LN secondary burials in the MN Ansarve dolmen. We find that all burials were used into the EBA, but only two of the cists showed activity already during the LN. We also see some mobility to Gotland during the LN/EBA period based on Strontium and mitochondrial data. We see a shift in the dietary pattern compared to the preceding period on the island [TRB and PWC], and the two LN individuals from the Ansarve dolmen exhibited different dietary and mobility patterns compared to the individuals from the LN/EBA stone cist burials. We find that most of the cist burials were used by individuals local to the area of the burials, with the exception of the large LN/EBA Haffinds cist burial which showed higher levels of mobility. Our modeling of ancestral mitochondrial contribution from chronologically older individuals recovered in the cultural contexts of TRB, PWC and CWC show that the best model is a 55/45 mix of CWC and TRB individuals. A 3-way model with a slight influx from PWC [5%] also had a good fit. This is difficult to reconcile with the current archaeological evidence on the island. We suggest that the maternal CWC/TRB contribution we see in the local LN/EBA individuals derives from migrants after the Scandinavian MN period, which possible also admixed with smaller local groups connected with the PWC. Further genomic analyses of these groups on Gotland will help to clarify the demographic history during the MN to EBA time periods.

  • 10.
    Goldberg, Amy
    et al.
    Stanford Univ, Dept Biol, Stanford, CA, USA.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Rosenberg, Noah A.
    Stanford Univ, Dept Biol, Stanford, CA, USA.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Neolithic familial migration contrasts Bronze Age male migration inferred from ancient X chromosomes2017In: American Journal of Physical Anthropology, ISSN 0002-9483, E-ISSN 1096-8644, Vol. 162, no S64, p. 196-196Article in journal (Other academic)
  • 11.
    Gummesson, Sara
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Molin, Fredrik
    Natl Hist Museums, Linkoping, Sweden.
    Sjöström, Arne
    Lund Univ, Dept Archeol & Ancient Hist, Lund, Sweden.
    The Spatial Organization of Bone Crafting During the Middle and Late Mesolithic at Ringsjöholm and Strandvägen in Sweden2019In: Journal of field archaeology, ISSN 0093-4690, E-ISSN 2042-4582, Vol. 44, no 3, p. 165-179Article in journal (Refereed)
    Abstract [en]

    This paper focuses on the spatial distribution of bone tool production waste from two Mesolithic sites in Sweden, Ringsjoholm and Strandvagen, with well-preserved faunal remains including bone and antler artifacts. Local production on both sites has generated a variety of identifiable waste products deriving from complete chains of production, including unmodified bones, debitage and finished products. Identified categories include: blanks, removed epiphyses, bone flakes, and preforms. Identification of species shows that antler and bone from red deer were the preferred raw materials. Spatial statistical analyses confirm that different stages of bone tool production were organized within separate areas of the sites and that larger items were discarded in the water along the shorelines. Interestingly, blanks and preforms seem to have been stored under water for future use and demarcated clusters of bone flakes in association with dwellings represent "bone knapping floors" where production was more intense than in other areas.

  • 12.
    Günther, Torsten
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Svensson, Emma
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Omrak, Ayca
    Stockholm Univ, Dept Archaeol & Class Studies.
    Sanchez-Quinto, Federico
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Kilinc, Gülsah Merve
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.; Middle East Tech Univ, Dept Biol Sci, Ankara.
    Krzewińska, Maja
    Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.
    Eriksson, Gunilla
    Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.
    Fraser, Magdalena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History, Archaeology.
    Edlund, Hanna
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Munters, Arielle
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Coutinho, Alexandra
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Simões, Luciana G.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Vicente, Mário
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Sjölander, Anders
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology.
    Sellevold, Berit Jansen
    Norwegian Inst Cultural Heritage Res, Oslo.
    Jørgensen, Roger
    Arctic Univ Norway, Univ Tromsø, Tromsø Univ Museum, Tromsø.
    Claes, Peter
    Katholieke Univ Leuven, Dept Elect Engn, Ctr Proc Speech & Images, Leuven.
    Shriver, Mark D.
    Penn State Univ, Dept Anthropol, State Coll, Pennsylvania.
    Valdiosera, Cristina
    La Trobe Univ, Dept Archaeol & Hist, Melbourne.
    Netea, Mihai G.
    Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Nijmegen; Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis, Nijmegen.
    Apel, Jan
    Lund Univ, Dept Archaeol & Ancient Hist, Lund.
    Liden, Kerstin
    Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.
    Skar, Birgitte
    Norwegian Univ Sci & Technol Univ Museum, Trondheim.
    Storå, Jan
    Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.
    Götherström, Anders
    Uppsala University, Science for Life Laboratory, SciLifeLab. Stockholm Univ, Dept Archaeol & Class Studies, Stockholm.; SciLifeLab, Stockholm.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. SciLifeLab, Stockholm.
    Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation2018In: PLoS biology, ISSN 1544-9173, E-ISSN 1545-7885, Vol. 16, no 1, article id e2003703Article in journal (Refereed)
    Abstract [en]

    Scandinavia was one of the last geographic areas in Europe to become habitable for humans after the Last Glacial Maximum (LGM). However, the routes and genetic composition of these postglacial migrants remain unclear. We sequenced the genomes, up to 57x coverage, of seven hunter-gatherers excavated across Scandinavia and dated from 9,500-6,000 years before present (BP). Surprisingly, among the Scandinavian Mesolithic individuals, the genetic data display an east-west genetic gradient that opposes the pattern seen in other parts of Mesolithic Europe. Our results suggest two different early postglacial migrations into Scandinavia: initially from the south, and later, from the northeast. The latter followed the ice-free Norwegian north Atlantic coast, along which novel and advanced pressure-blade stone-tool techniques may have spread. These two groups met and mixed in Scandinavia, creating a genetically diverse population, which shows patterns of genetic adaptation to high latitude environments. These potential adaptations include high frequencies of low pigmentation variants and a gene region associated with physical performance, which shows strong continuity into modern-day northern Europeans.

  • 13.
    Günther, Torsten
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Nettelblad, Carl
    Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Division of Scientific Computing. Uppsala University, Disciplinary Domain of Science and Technology, Mathematics and Computer Science, Department of Information Technology, Computational Science. Uppsala University, Science for Life Laboratory, SciLifeLab.
    The presence and impact of reference bias on population genomic studies of prehistoric human populations2019In: PLoS Genetics, ISSN 1553-7390, E-ISSN 1553-7404, Vol. 15, no 7, article id e1008302Article in journal (Refereed)
  • 14.
    Jeong, Choongwon
    et al.
    Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.
    Ozga, Andrew T.
    Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA.
    Witonsky, David B.
    Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala Univ, Dept Organismal Biol, SE-75236 Uppsala, Sweden.
    Edlund, Hanna
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala Univ, Dept Organismal Biol, SE-75236 Uppsala, Sweden.
    Hofman, Courtney A.
    Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA.
    Hagan, Richard W.
    Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala Univ, Dept Organismal Biol, SE-75236 Uppsala, Sweden.
    Lewis, Cecil M.
    Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA.
    Aldenderfer, Mark S.
    Univ Calif Merced, Sch Social Sci Humanities & Arts, Merced, CA 95343 USA.
    Di Rienzo, Anna
    Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA.
    Warinner, Christina
    Univ Oklahoma, Dept Anthropol, Norman, OK 73019 USA;Univ Zurich, Inst Evolut Med, CH-8057 Zurich, Switzerland.
    Long-term genetic stability and a high-altitude East Asian origin for the peoples of the high valleys of the Himalayan arc2016In: Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, E-ISSN 1091-6490, Vol. 113, no 27, p. 7485-7490Article in journal (Refereed)
    Abstract [en]

    The high-altitude transverse valleys [>3,000 m above sea level (masl)] of the Himalayan arc from Arunachal Pradesh to Ladahk were among the last habitable places permanently colonized by prehistoric humans due to the challenges of resource scarcity, cold stress, and hypoxia. The modern populations of these valleys, who share cultural and linguistic affinities with peoples found today on the Tibetan plateau, are commonly assumed to be the descendants of the earliest inhabitants of the Himalayan arc. However, this assumption has been challenged by archaeological and osteological evidence suggesting that these valleys may have been originally populated from areas other than the Tibetan plateau, including those at low elevation. To investigate the peopling and early population history of this dynamic high-altitude contact zone, we sequenced the genomes (0.04x-7.25x, mean 2.16x) and mitochondrial genomes (20.8x-1,311.0x, mean 482.1x) of eight individuals dating to three periods with distinct material culture in the Annapurna Conservation Area (ACA) of Nepal, spanning 3,150-1,250 y before present (yBP). We demonstrate that the region is characterized by long-term stability of the population genetic make-up despite marked changes in material culture. The ancient genomes, uniparental haplotypes, and high-altitude adaptive alleles suggest a high-altitude East Asian origin for prehistoric Himalayan populations.

  • 15.
    Juras, Anna
    et al.
    Adam Mickiewicz Univ, Dept Human Evolutionary Biol, Inst Anthropol, Fac Biol, Umultowska 89, PL-61614 Poznan, Poland..
    Chylenski, Maciej
    Adam Mickiewicz Univ, Inst Archaeol, Fac Hist, Umultowska 89D, PL-61614 Poznan, Poland..
    Ehler, Edvard
    Adam Mickiewicz Univ, Dept Human Evolutionary Biol, Inst Anthropol, Fac Biol, Umultowska 89, PL-61614 Poznan, Poland.;ASCR, Lab Genom & Bioinformat, Inst Mol Genet, Vvi, Videnska 1083, Prague 14220 4, Czech Republic..
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Zurkiewicz, Danuta
    Adam Mickiewicz Univ, Inst Archaeol, Fac Hist, Umultowska 89D, PL-61614 Poznan, Poland..
    Wlodarczak, Piotr
    Polish Acad Sci, Inst Archaeol & Ethnol, Slawkowska Str 17, PL-31016 Krakow, Poland..
    Wilk, Stanislaw
    Jagiellonian Univ, Inst Archaeol, Golebia 11, PL-31007 Krakow, Poland..
    Peska, Jaroslav
    Archaeol Ctr Olomouc, U Hradiska 42-6, Olomouc 77900, Czech Republic.;Palacky Univ Olomouc, Philosoph Fac, Sect Archaeol, Dept Hist, Hrade 5, Olomouc 77180, Czech Republic..
    Fojtik, Pavel
    Inst Archaeol Heritage Brno, Vvi, Kaloudova 30, Brno 61400, Czech Republic..
    Kralik, Miroslav
    Masaryk Univ, Fac Sci, Lab Morphol & Forens Anthropol LaMorFA, Dept Anthropol, Kotlarska 267-2, CS-61137 Brno, Czech Republic..
    Libera, Jerzy
    Marie Curie Sklodowska Univ, Inst Archaeol, Maria Curie Sklodowska Sq 4, PL-20031 Lublin, Poland..
    Baginska, Jolanta
    Muzeum Reg Janusza Petera, Ul Zamojska 2, PL-22600 Tomaszow Lubelski, Poland..
    Tunia, Krzysztof
    Polish Acad Sci, Inst Archaeol & Ethnol, Slawkowska Str 17, PL-31016 Krakow, Poland..
    Klochko, Viktor I.
    Natl Univ Kyiv Mohyla Acad, Inst Archaeol, Hryhoriya Skovorody St 2, UA-04655 Kiev, Ukraine..
    Dabert, Miroslawa
    Adam Mickiewicz Univ, Fac Biol, Mol Biol Tech Lab, Umultowska 89, PL-61614 Poznan, Poland..
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Univ Johannesburg, Ctr Anthropol Res, Auckland Pk, ZA-2006 Johannesburg, South Africa..
    Kosko, Aleksander
    Adam Mickiewicz Univ, Inst Archaeol, Fac Hist, Umultowska 89D, PL-61614 Poznan, Poland..
    Mitochondrial genomes reveal an east to west cline of steppe ancestry in Corded Ware populations2018In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 8, article id 11603Article in journal (Refereed)
    Abstract [en]

    From around 4,000 to 2,000 BC the forest-steppe north-western Pontic region was occupied by people who shared a nomadic lifestyle, pastoral economy and barrow burial rituals. It has been shown that these groups, especially those associated with the Yamnaya culture, played an important role in shaping the gene pool of Bronze Age Europeans, which extends into present-day patterns of genetic variation in Europe. Although the genetic impact of these migrations from the forest-steppe Pontic region into central Europe have previously been addressed in several studies, the contribution of mitochondrial lineages to the people associated with the Corded Ware culture in the eastern part of the North European Plain remains contentious. In this study, we present mitochondrial genomes from 23 Late Eneolithic and Bronze Age individuals, including representatives of the north-western Pontic region and the Corded Ware culture from the eastern part of the North European Plain. We identified, for the first time in ancient populations, the rare mitochondrial haplogroup X4 in two Bronze Age Catacomb culture-associated individuals. Genetic similarity analyses show close maternal genetic affinities between populations associated with both eastern and Baltic Corded Ware culture, and the Yamnaya horizon, in contrast to larger genetic differentiation between populations associated with western Corded Ware culture and the Yamnaya horizon. This indicates that females with steppe ancestry contributed to the formation of populations associated with the eastern Corded Ware culture while more local people, likely of Neolithic farmer ancestry, contributed to the formation of populations associated with western Corded Ware culture.

  • 16.
    Kilinc, Gulsah Merve
    et al.
    Stockholm Univ, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Kashuba, Natalija
    Stockholm Univ, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden;Univ Oslo, Museum Cultural Hist, N-0164 Oslo, Norway.
    Yaka, Reyhan
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Sumer, Arev Pelin
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Yuncu, Eren
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Shergin, Dmitrij
    Ivanov, Grigorij Leonidovich
    Irkutsk Museum Reg Studies, Irkutsk 664003, Irkutsk Oblast, Russia.
    Kichigin, Dmitrii
    Irkutsk State Univ, Lab Archaeol & Ethnog, Fac Hist & Methods, Dept Humanitarian & Aesthet Educ,Pedag Inst, Irkutsk 664011, Irkutsk Oblast, Russia;Irkutsk State Tech Univ, Irkutsk Natl Res Tech Univ, Lab Archaeol Paleoecol & Subsistence Strategies P, Irkutsk 664074, Irkutsk Oblast, Russia.
    Pestereva, Kjunnej
    MK Ammosov North Eastern Fed Univ NEFU, Fed State Autonomous Educ Inst Higher Educ, Yakutsk 677000, Sakha Republic, Russia.
    Volkov, Denis
    Ctr Preservat Hist & Cultural Heritage Amur Reg, Blagoveshchensk 675000, Amur Oblast, Russia.
    Mandryka, Pavel
    Siberian Fed Univ, Krasnoyarsk 660041, Krasnoyarskiy K, Russia.
    Kharinskii, Artur
    Irkutsk State Tech Univ, Irkutsk Natl Res Tech Univ, Lab Archaeol Paleoecol & Subsistence Strategies P, Irkutsk 664074, Irkutsk Oblast, Russia.
    Tishkin, Alexey
    Altai State Univ, Dept Archaeol Ethnog & Museol, Lab Interdisciplinary Studies Archaeol Western Si, Barnaul, Altaiskiy Kray, Russia.
    Ineshin, Evgenij
    Irkutsk State Univ, Lab Archaeol & Ethnog, Fac Hist & Methods, Dept Humanitarian & Aesthet Educ,Pedag Inst, Irkutsk 664011, Irkutsk Oblast, Russia.
    Kovychev, Evgeniy
    Transbaikal State Univ, Fac Hist, Chita 672039, Zabaykalsky Kra, Russia.
    Stepanov, Aleksandr
    MK Ammosov North Eastern Fed Univ NEFU, Fed State Autonomous Educ Inst Higher Educ, Yakutsk 677000, Sakha Republic, Russia.
    Alekseev, Aanatolij
    Acad Sci Sakha Republ, Inst Humanities Res & Indigenous Studies IHRISN, Yakutsk 677000, Sakha Republic, Russia.
    Fedoseeva, Svetlana Aleksandrovna
    Russian Acad Sci, Inst Arctic Archaeol & Paleoecol, Yakutsk 677000, Sakha Republic, Russia.
    Somel, Mehmet
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Krzewinska, Maja
    Stockholm Univ, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Stora, Jan
    Stockholm Univ, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Gotherstrom, Anders
    Stockholm Univ, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Investigating Holocene human population history in North Asia using ancient mitogenomes2018In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 8, article id 8969Article in journal (Refereed)
    Abstract [en]

    Archaeogenomic studies have largely elucidated human population history in West Eurasia during the Stone Age. However, despite being a broad geographical region of significant cultural and linguistic diversity, little is known about the population history in North Asia. We present complete mitochondrial genome sequences together with stable isotope data for 41 serially sampled ancient individuals from North Asia, dated between c. 13,790 BP and c. 1,380 BP extending from the Palaeolithic to the Iron Age. Analyses of mitochondrial DNA sequences and haplogroup data of these individuals revealed the highest genetic affinity to present-day North Asian populations of the same geographical region suggesting a possible long-term maternal genetic continuity in the region. We observed a decrease in genetic diversity over time and a reduction of maternal effective population size (Ne) approximately seven thousand years before present. Coalescent simulations were consistent with genetic continuity between present day individuals and individuals dating to 7,000 BP, 4,800 BP or 3,000 BP. Meanwhile, genetic differences observed between 7,000 BP and 3,000 BP as well as between 4,800 BP and 3,000 BP were inconsistent with genetic drift alone, suggesting gene flow into the region from distant gene pools or structure within the population. These results indicate that despite some level of continuity between ancient groups and present-day populations, the region exhibits a complex demographic history during the Holocene.

  • 17.
    Krzewinska, Maja
    et al.
    Stockholm Univ, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, SE-10691 Stockholm, Sweden.
    Kilinc, Gulsah Merve
    Stockholm Univ, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, SE-10691 Stockholm, Sweden.
    Juras, Anna
    Adam Mickiewicz Univ, Fac Biol, Inst Anthropol, Dept Human Evolutionary Biol, Umultowska 89, PL-61614 Poznan, Poland.
    Koptekin, Dilek
    Middle East Tech Univ, Dept Hlth Informat, TR-06800 Ankara, Turkey.
    Chylenski, Maciej
    Adam Mickiewicz Univ, Fac Hist, Inst Archaeol, Umultowska 89D, PL-61614 Poznan, Poland.
    Nikitin, Alexey G.
    Grand Valley State Univ, Biol Dept, 1 Campus Dr, Allendale, MI 49401 USA.
    Shcherbakov, Nikolai
    Bashkir State Pedag Univ, Lab Methodol & Methods Humanitarian Res, Octyabrskoy Revolutsii 3A, Ufa 450007, Russia.
    Shuteleva, Iia
    Bashkir State Pedag Univ, Lab Methodol & Methods Humanitarian Res, Octyabrskoy Revolutsii 3A, Ufa 450007, Russia;Bashkir State Univ, Inst Hist & State Management, Zaki Validy St 32, Ufa 450076, Russia.
    Leonova, Tatiana
    Bashkir State Pedag Univ, Lab Methodol & Methods Humanitarian Res, Octyabrskoy Revolutsii 3A, Ufa 450007, Russia.
    Kraeva, Liudmila
    Orenburg State Pedag Univ, Archaeol Lab, Orenburg, Russia.
    Sungatov, Flarit A.
    Bashkir State Univ, Archaeol Lab, Str Validi Z 32, Ufa, Russia.
    Sultanova, Alfija N.
    Bashkir State Univ, Archaeol Lab, Str Validi Z 32, Ufa, Russia.
    Potekhina, Inna
    Natl Acad Sci Ukraine, Inst Archaeol, Kiev, Ukraine.
    Lukasik, Sylwia
    Adam Mickiewicz Univ, Fac Biol, Inst Anthropol, Dept Human Evolutionary Biol, Umultowska 89, PL-61614 Poznan, Poland.
    Krenz-Niedbala, Marta
    Adam Mickiewicz Univ, Fac Biol, Inst Anthropol, Dept Human Evolutionary Biol, Umultowska 89, PL-61614 Poznan, Poland.
    Dalen, Love
    Swedish Museum Nat Hist, Dept Bioinformat & Genet, POB 50007, S-10405 Stockholm, Sweden.
    Sinika, Vitaly
    Taras Shevchenko Univ Tiraspol, October St 25, Tiraspol 3300, Moldova;Nizhnevartovsk State Univ, Lenin St 56, Khanty Mansi Autonomous 628605, Yugra, Russia.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Univ Johannesburg, Ctr Anthropol Res, POB 524, ZA-2006 Auckland Pk, South Africa;Univ Johannesburg, Dept Anthropol & Dev Studies, POB 524, ZA-2006 Auckland Pk, South Africa.
    Stora, Jan
    Stockholm Univ, Dept Archaeol & Classical Studies, Osteoarchaeol Res Lab, Lilla Frescativagen 7, SE-10691 Stockholm, Sweden.
    Gotherstrom, Anders
    Stockholm Univ, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, SE-10691 Stockholm, Sweden.
    Ancient genomes suggest the eastern Pontic-Caspian steppe as the source of western Iron Age nomads2018In: Science Advances, E-ISSN 2375-2548, Vol. 4, no 10, article id eaat4457Article in journal (Refereed)
    Abstract [en]

    For millennia, the Pontic-Caspian steppe was a connector between the Eurasian steppe and Europe. In this scene, multidirectional and sequential movements of different populations may have occurred, including those of the Eurasian steppe nomads. We sequenced 35 genomes (low to medium coverage) of Bronze Age individuals (Srubnaya-Alakulskaya) and Iron Age nomads (Cimmerians, Scythians, and Sarmatians) that represent four distinct cultural entities corresponding to the chronological sequence of cultural complexes in the region. Our results suggest that, despite genetic links among these peoples, no group can be considered a direct ancestor of the subsequent group. The nomadic populations were heterogeneous and carried genetic affinities with populations from several other regions including the Far East and the southern Urals. We found evidence of a stable shared genetic signature, making the eastern Pontic-Caspian steppe a likely source of western nomadic groups.

  • 18.
    Krzewinska, Maja
    et al.
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Kjellstrom, Anna
    Univ Stockholm, Dept Archaeol & Class Studies, Osteoarchaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Hedenstierna-Jonson, Charlotte
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Zachrisson, Torun
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Omrak, Ayca
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Yaka, Reyhan
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Kilinc, Gulsah Merve
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Somel, Mehmet
    Middle East Tech Univ, Dept Biol Sci, TR-06800 Ankara, Turkey.
    Sobrado, Veronica
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Evans, Jane
    British Geol Survey, NERC Isotope Geosci Lab, Nottingham NG12 5GG, England.
    Knipper, Conine
    Curt Engelhorn Zentrum Archaometrie, D6,3, D-68159 Mannheim, Germany.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Sci Life Lab, Tomtebodavagen 23A, S-17165 Solna, Sweden.
    Stora, Jan
    Univ Stockholm, Dept Archaeol & Class Studies, Osteoarchaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden.
    Gotherstrom, Anders
    Univ Stockholm, Dept Archaeol & Class Studies, Archaeol Res Lab, Lilla Frescativagen 7, S-10691 Stockholm, Sweden;Sci Life Lab, Tomtebodavagen 23A, S-17165 Solna, Sweden.
    Genomic and Strontium Isotope Variation Reveal Immigration Patterns in a Viking Age Town2018In: Current Biology, ISSN 0960-9822, E-ISSN 1879-0445, Vol. 28, no 17, p. 2730-2738.e10Article in journal (Refereed)
    Abstract [en]

    The impact of human mobility on the northern European urban populations during the Viking and Early Middle Ages and its repercussions in Scandinavia itself are still largely unexplored. Our study of the demographics in the final phase of the Viking era is the first comprehensive multidisciplinary investigation that includes genetics, isotopes, archaeology, and osteology on a larger scale. This early Christian dataset is particularly important as the earlier common pagan burial tradition during the Iron Age was cremation, hindering large-scale DNA analyses. We present genome-wide sequence data from 23 individuals from the 10th to 12th century Swedish town of Sigtuna. The data revealed high genetic diversity among the early urban residents. The observed variation exceeds the genetic diversity in distinct modern-day and Iron Age groups of central and northern Europe. Strontium isotope data suggest mixed local and non-local origin of the townspeople. Our results uncover the social system underlying the urbanization process of the Viking World of which mobility was an intricate part and was comparable between males and females. The inhabitants of Sigtuna were heterogeneous in their genetic affinities, probably reflecting both close and distant connections through an established network, confirming that early urbanization processes in northern Europe were driven by migration.

  • 19.
    Kuhn, Jose Manuel Monroy
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Estimating genetic kin relationships in prehistoric populations2018In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 13, no 4, article id e0195491Article in journal (Refereed)
    Abstract [en]

    Archaeogenomic research has proven to be a valuable tool to trace migrations of historic and prehistoric individuals and groups, whereas relationships within a group or burial site have not been investigated to a large extent. Knowing the genetic kinship of historic and prehistoric individuals would give important insights into social structures of ancient and historic cultures. Most archaeogenetic research concerning kinship has been restricted to uniparental markers, while studies using genome-wide information were mainly focused on comparisons between populations. Applications which infer the degree of relationship based on modern-day DNA information typically require diploid genotype data. Low concentration of endogenous DNA, fragmentation and other post-mortem damage to ancient DNA (aDNA) makes the application of such tools unfeasible for most archaeological samples. To infer family relationships for degraded samples, we developed the software READ (Relationship Estimation from Ancient DNA). We show that our heuristic approach can successfully infer up to second degree relationships with as little as 0.1x shotgun coverage per genome for pairs of individuals. We uncover previously unknown relationships among prehistoric individuals by applying READ to published aDNA data from several human remains excavated from different cultural contexts. In particular, we find a group of five closely related males from the same Corded Ware culture site in modern-day Germany, suggesting patrilocality, which highlights the possibility to uncover social structures of ancient populations by applying READ to genome-wide aDNA data. READ is publicly available from https://bitbucket.org/tguenther/read.

  • 20.
    Lombard, Marlize
    et al.
    University of Johannesburg, Centre for Anthropological Research, Johannesburg, South Africa; University of Johannesburg, Department of Anthropology and Development Studies, Johannesburg, South Africa.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. University of Johannesburg, Centre for Anthropological Research, Johannesburg, South Africa; University of Johannesburg, Department of Anthropology and Development Studies, Johannesburg, South Africa; .
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. University of Johannesburg, Centre for Anthropological Research, Johannesburg, South Africa; University of Johannesburg, Department of Anthropology and Development Studies, Johannesburg, South Africa.
    Ancient human DNA: How sequencing the genome of a boy from Ballito Bay changed human history2018In: South African Journal of Science, ISSN 0038-2353, E-ISSN 1996-7489, Vol. 114, no 1-2, article id a0253Article in journal (Other academic)
  • 21.
    Lombard, Marlize
    et al.
    Univ Johannesburg, Palaeo Res Inst, POB 524, ZA-2006 Auckland Pk, South Africa.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Univ Johannesburg, Palaeo Res Inst, POB 524, ZA-2006 Auckland Pk, South Africa.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Univ Johannesburg, Palaeo Res Inst, POB 524, ZA-2006 Auckland Pk, South Africa.
    Svensson, Emma
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Munters, Arielle R.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Coutinho, Alexandra
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Edlund, Hanna
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Zipfel, Bernhard
    Univ Witwatersrand, Evolutionary Studies Inst, Johannesburg, South Africa;Univ Witwatersrand, Sch Geosci, Johannesburg, South Africa.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Univ Johannesburg, Palaeo Res Inst, POB 524, ZA-2006 Auckland Pk, South Africa.
    Genetic data and radiocarbon dating question Plovers Lake as a Middle Stone Age hominin-bearing site2019In: Journal of Human Evolution, ISSN 0047-2484, E-ISSN 1095-8606, Vol. 131, p. 203-209Article in journal (Refereed)
    Abstract [en]

    We have sampled five out of the eleven previously identified human specimens and some faunal remains from the Plovers Lake site in the Cradle of Humankind, South Africa, for ancient DNA. We were successful in obtaining positive results for three of the human individuals and three 'buffalo' teeth. Based on ages obtained for flowstone and one bovid tooth, the site was interpreted previously as a hominin-bearing Middle Stone Age site of more than 60 000 years old. Our work, however, revealed that not all the material accumulated during the Pleistocene. Instead, the sampled humans and bovids most likely represent a Bantu-speaking Iron Age population (mtDNA haplogroup L3d) and their Nguni cattle. Newly obtained radiocarbon dates confirmed that these remains are probably no older than the last 500 years bp. This study demonstrates the usefulness of inter-disciplinary investigation into the human past, and the depositional and stratigraphic complexities that researchers in the Cradle of Humankind need to contend with before interpreting their assemblages.

  • 22.
    Lona-Durazo, Frida
    et al.
    Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada.
    Hernandez-Pacheco, Natalia
    Univ La Laguna, Res Unit, Hosp Univ NS de Candelaria, Santa Cruz De Tenerife, Spain;Univ La Laguna, Genom & Hlth Grp, Dept Biochem Microbiol Cell Biol & Genet, Tenerife, Spain.
    Fan, Shaohua
    Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA.
    Zhang, Tongwu
    NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.
    Choi, Jiyeon
    NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.
    Kovacs, Michael A.
    NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.
    Loftus, Stacie K.
    NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA.
    Le, Phuong
    Edwards, Melissa
    Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada.
    Fortes-Lima, Cesar A.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Univ Paris Diderot, Evolutionary Anthropol Team, Lab Ecoanthropol & Ethnobiol UMR7206, CNRS,MNHN,Musee Homme, Paris, France.
    Eng, Celeste
    Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.
    Huntsman, Scott
    Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.
    Hu, Donglei
    Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.
    Javier Gomez-Cabezas, Enrique
    Ctr Sociol & Psychol Res, Havana, Cuba.
    Caridad Marin-Padron, Lilia
    Med Univ Havana, Natl Ctr Med Genet, Havana, Cuba.
    Grauholm, Jonas
    Statens Serum Inst, Dept Congenital Disorders, Copenhagen, Denmark.
    Mors, Ole
    Aarhus Univ, Translat Neuropsychiat Unit, Dept Clin Med, Aarhus, Denmark;Aarhus Univ, Lundbeck Fdn Initiat Integrat Psychiat Res, Aarhus, Denmark;Aarhus Univ Hosp, Psychiat Dept, Aarhus, Denmark.
    Burchard, Esteban G.
    Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA.
    Norton, Heather L.
    Univ Cincinnati, Dept Anthropol, Cincinnati, OH USA.
    Pavan, William J.
    NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA.
    Brown, Kevin M.
    NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA.
    Tishkoff, Sarah
    Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA;Univ Penn, Dept Biol, Sch Arts & Sci, Philadelphia, PA 19104 USA.
    Pino-Yanes, Maria
    Univ La Laguna, Genom & Hlth Grp, Dept Biochem Microbiol Cell Biol & Genet, Tenerife, Spain;Inst Salud Carlos III, CIBER Enfermedades Resp, Madrid, Spain;Univ La Laguna, ITB, Santa Cruz De Tenerife, Spain.
    Beleza, Sandra
    Univ Leicester, Dept Genet & Genome Biol, Coll Life Sci, Leicester, Leics, England.
    Marcheco-Teruel, Beatriz
    Med Univ Havana, Natl Ctr Med Genet, Havana, Cuba.
    Parra, Esteban J.
    Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada.
    Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations2019In: BMC Genetics, ISSN 1471-2156, E-ISSN 1471-2156, Vol. 20, article id 59Article in journal (Refereed)
    Abstract [en]

    Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.

    Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N=762). Additionally, we conducted a meta-analysis including the Cuban sample, and admixed samples from Cape Verde, Puerto Rico and African-Americans from San Francisco. This meta-analysis is one of the largest efforts so far to characterize the genetic basis of skin pigmentation in admixed populations (N=2,104). We identified five genome-wide significant regions in the meta-analysis, and explored if the markers observed in these regions are associated with the expression of relevant pigmentary genes in human melanocyte cultures. In three of the regions identified in the meta-analysis (SLC24A5, SLC45A2, and GRM5/TYR), the association seems to be driven by non-synonymous variants (rs1426654, rs16891982, and rs1042602, respectively). The rs16891982 polymorphism is strongly associated with the expression of the SLC45A2 gene. In the GRM5/TYR region, in addition to the rs1042602 non-synonymous SNP located on the TYR gene, variants located in the nearby GRM5 gene have an independent effect on pigmentation, possibly through regulation of gene expression of the TYR gene. We also replicated an association recently described near the MFSD12 gene on chromosome 19 (lead variant rs112332856). Additionally, our analyses support the presence of multiple signals in the OCA2/HERC2/APBA2 region on chromosome 15. A clear causal candidate is the HERC2 intronic variant rs12913832, which has a profound influence on OCA2 expression. This variant has pleiotropic effects on eye, hair, and skin pigmentation. However, conditional and haplotype-based analyses indicate the presence of other variants with independent effects on melanin levels in OCA2 and APBA2. Finally, a follow-up of genome-wide signals identified in a recent GWAS for tanning response indicates that there is a substantial overlap in the genetic factors influencing skin pigmentation and tanning response.

    Conclusions: Our meta-analysis of skin pigmentation GWAS in recently admixed populations provides new insights about the genetic architecture of this complex trait.

  • 23.
    Malmström, Helena
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Univ Johannesburg, Ctr Anthropol Res, Dept Anthropol & Dev Studies, ZA-2006 Auckland Pk, South Africa.
    Günther, Torsten
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Svensson, Emma M.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Juras, Anna
    Adam Mickiewia Univ Poznan, Dept Human Evolutionary Biol, Inst Anthropol, Fac Biol, Ul Uniwersytetu Poznanskiego 6, PL-61614 Poznan, Poland.
    Fraser, Magdalena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Arts, Department of Archaeology and Ancient History.
    Munters, Arielle R.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Pospieszny, Lukasz
    Univ Bristol, Dept Anthropol & Archaeol, Bristol BS8 1UU, Avon, England;Polish Acad Sci, Inst Archaeol & Ethnol, Ctr Studies Late Antiqu & Early Medieval Times, PL-61612 Poznan, Poland.
    Tõrv, Mari
    Univ Tartu, Dept Archaeol, Inst Hist & Archaeol, EE-50090 Tartu, Estonia.
    Lindström, Jonathan
    Linneaus Univ, Grad Sch Contract Archaeol, Dept Archaeol, S-39182 Kalmar, Sweden.
    Götherström, Anders
    Stockholm Univ, Archaeol Res Lab, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Storå, Jan
    Stockholm Univ, Osteoarchaeol Res Lab, Dept Archaeol & Class Studies, S-10691 Stockholm, Sweden.
    Jakobsson, Mattias
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Univ Johannesburg, Ctr Anthropol Res, Dept Anthropol & Dev Studies, ZA-2006 Auckland Pk, South Africa.
    The genomic ancestry of the Scandinavian Battle Axe Culture people and their relation to the broader Corded Ware horizon2019In: Proceedings of the Royal Society of London. Biological Sciences, ISSN 0962-8452, E-ISSN 1471-2954, Vol. 286, no 1912, article id 20191528Article in journal (Refereed)
    Abstract [en]

    The Neolithic period is characterized by major cultural transformations and human migrations, with lasting effects across Europe. To understand the population dynamics in Neolithic Scandinavia and the Baltic Sea area, we investigate the genomes of individuals associated with the Battle Axe Culture (BAC), a Middle Neolithic complex in Scandinavia resembling the continental Corded Ware Culture (CWC). We sequenced 11 individuals (dated to 3330-1665 calibrated before common era (cal BCE)) from modern-day Sweden, Estonia, and Poland to 0.26-3.24x coverage. Three of the individuals were from CWC contexts and two from the central-Swedish BAC burial 'Bergsgraven'. By analysing these genomes together with the previously published data, we show that the BAC represents a group different from other Neolithic populations in Scandinavia, revealing stratification among cultural groups. Similar to continental CWC, the BAC-associated individuals display ancestry from the Pontic-Caspian steppe herders, as well as smaller components originating from hunter-gatherers and Early Neolithic farmers. Thus, the steppe ancestry seen in these Scandinavian BAC individuals can be explained only by migration into Scandinavia. Furthermore, we highlight the reuse of megalithic tombs of the earlier Funnel Beaker Culture (FBC) by people related to BAC. The BAC groups likely mixed with resident middle Neolithic farmers (e.g. FBC) without substantial contributions from Neolithic foragers.

  • 24.
    Naidoo, Thijessen
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Population Genetics of Human Genomic Elements2018Doctoral thesis, comprehensive summary (Other academic)
    Abstract [en]

    The genomes of living organisms are composed of a multitude of functional units, which interact with each other and their environment in a highly regulated fashion, to facilitate the expression of an enduring (and evolving) phenotype. Several approaches have emerged in the effort to identify these functional units and explore their activities. In this thesis, I have taken a population genetics approach; evaluating how the distribution of genetic variation in the human genome has been shaped through the actions of natural selection on functional genomic elements. In the first paper, I interrogate a catalogue of elements derived from biochemical signatures for signals of selection; finding significant signals of purifying selection on regulatory elements, independent of linked-purifying selection. In the second paper, I explore the pseudogene class of genomic elements, and find that a large proportion of a particular subclass, transcribed duplicated pseudogenes, has experienced significant amounts of positive selection. In the third paper, I focus on protein coding genes and variants that disrupt their open reading frames. Specifically, I examine the distribution of loss-of-function variants in the Khoe-San population; gauging their functional significance and exploring the biological roles of affected genes. In the final paper, instead of using population genetics to uncover and explore genomic elements, I use a major genomic element – the Y chromosome – as an effective tool to study the evolutionary history of a human population.

    List of papers
    1. Patterns of variation in cis-regulatory regions: examining evidence of purifying selection
    Open this publication in new window or tab >>Patterns of variation in cis-regulatory regions: examining evidence of purifying selection
    2018 (English)In: BMC Genomics, ISSN 1471-2164, E-ISSN 1471-2164, Vol. 19, article id 95Article in journal (Refereed) Published
    Abstract [en]

    Background: With only 2 % of the human genome consisting of protein coding genes, functionality across the rest of the genome has been the subject of much debate. This has gained further impetus in recent years due to a rapidly growing catalogue of genomic elements, based primarily on biochemical signatures (e.g. the ENCODE project). While the assessment of functionality is a complex task, the presence of selection acting on a genomic region is a strong indicator of importance. In this study, we apply population genetic methods to investigate signals overlaying several classes of regulatory elements.

    Results: We disentangle signals of purifying selection acting directly on regulatory elements from the confounding factors of demography and purifying selection linked to e.g. nearby protein coding regions. We confirm the importance of regulatory regions proximal to coding sequence, while also finding differential levels of selection at distal regions. We note differences in purifying selection among transcription factor families. Signals of constraint at some genomic classes were also strongly dependent on their physical location relative to coding sequence. In addition, levels of selection efficacy across genomic classes differed between African and non-African populations.

    Conclusions: In order to assign a valid signal of selection to a particular class of genomic sequence, we show that it is crucial to isolate the signal by accounting for the effects of demography and linked-purifying selection. Our study highlights the intricate interplay of factors affecting signals of selection on functional elements.

    Place, publisher, year, edition, pages
    BIOMED CENTRAL LTD, 2018
    Keywords
    Regulatory regions, Purifying selection, Selection efficacy, Non-coding DNA, Functional elements, Population genetics
    National Category
    Genetics Developmental Biology
    Identifiers
    urn:nbn:se:uu:diva-343792 (URN)10.1186/s12864-017-4422-y (DOI)000423443900002 ()29373957 (PubMedID)
    Funder
    Göran Gustafsson Foundation for Research in Natural Sciences and MedicineKnut and Alice Wallenberg FoundationSwedish Research Council
    Available from: 2018-03-05 Created: 2018-03-05 Last updated: 2018-09-28Bibliographically approved
    2. Selective sweeps among transcribed pseudogenes underline their utility in the human genome
    Open this publication in new window or tab >>Selective sweeps among transcribed pseudogenes underline their utility in the human genome
    (English)Manuscript (preprint) (Other academic)
    National Category
    Genetics Evolutionary Biology
    Identifiers
    urn:nbn:se:uu:diva-361122 (URN)
    Available from: 2018-09-20 Created: 2018-09-20 Last updated: 2018-09-20
    3. Loss-of-function variants among Khoe and San individuals
    Open this publication in new window or tab >>Loss-of-function variants among Khoe and San individuals
    Show others...
    (English)Manuscript (preprint) (Other academic)
    National Category
    Genetics Evolutionary Biology
    Identifiers
    urn:nbn:se:uu:diva-361123 (URN)
    Available from: 2018-09-20 Created: 2018-09-20 Last updated: 2018-09-20
    4. Full genomic Y chromosomal variation in southern African Khoe-San populations
    Open this publication in new window or tab >>Full genomic Y chromosomal variation in southern African Khoe-San populations
    Show others...
    (English)Manuscript (preprint) (Other academic)
    National Category
    Genetics Evolutionary Biology
    Identifiers
    urn:nbn:se:uu:diva-361124 (URN)
    Available from: 2018-09-20 Created: 2018-09-20 Last updated: 2018-09-20
  • 25.
    Naidoo, Thijessen
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Sjödin, Per
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Soodyall, Himla
    Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa..
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Loss-of-function variants among Khoe and San individualsManuscript (preprint) (Other academic)
  • 26.
    Naidoo, Thijessen
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Sjödin, Per
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Patterns of variation in cis-regulatory regions: examining evidence of purifying selection2018In: BMC Genomics, ISSN 1471-2164, E-ISSN 1471-2164, Vol. 19, article id 95Article in journal (Refereed)
    Abstract [en]

    Background: With only 2 % of the human genome consisting of protein coding genes, functionality across the rest of the genome has been the subject of much debate. This has gained further impetus in recent years due to a rapidly growing catalogue of genomic elements, based primarily on biochemical signatures (e.g. the ENCODE project). While the assessment of functionality is a complex task, the presence of selection acting on a genomic region is a strong indicator of importance. In this study, we apply population genetic methods to investigate signals overlaying several classes of regulatory elements.

    Results: We disentangle signals of purifying selection acting directly on regulatory elements from the confounding factors of demography and purifying selection linked to e.g. nearby protein coding regions. We confirm the importance of regulatory regions proximal to coding sequence, while also finding differential levels of selection at distal regions. We note differences in purifying selection among transcription factor families. Signals of constraint at some genomic classes were also strongly dependent on their physical location relative to coding sequence. In addition, levels of selection efficacy across genomic classes differed between African and non-African populations.

    Conclusions: In order to assign a valid signal of selection to a particular class of genomic sequence, we show that it is crucial to isolate the signal by accounting for the effects of demography and linked-purifying selection. Our study highlights the intricate interplay of factors affecting signals of selection on functional elements.

  • 27.
    Naidoo, Thijessen
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Sjödin, Per
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Selective sweeps among transcribed pseudogenes underline their utility in the human genomeManuscript (preprint) (Other academic)
  • 28.
    Naidoo, Thijessen
    et al.
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Xu, Jingzi
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Vicente, Mário
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Malmström, Helena
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution.
    Soodyall, Himla
    Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South Africa.
    Jakobsson, Mattias
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Schlebusch, Carina
    Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Organismal Biology, Human Evolution. Uppsala University, Science for Life Laboratory, SciLifeLab. Centre for Anthropological Research, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa.
    Full genomic Y chromosomal variation in southern African Khoe-San populationsManuscript (preprint) (Other academic)
  • 29.