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Evolutionary constraint and innovation across hundreds of placental mammals
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-6355-7581
Carnegie Mellon Univ, Dept Computat Biol, Sch Comp Sci, Pittsburgh, PA 15213 USA.;Carnegie Mellon Univ, Neurosci Inst, Pittsburgh, PA 15213 USA..ORCID iD: 0000-0002-8924-8269
Broad Inst & Harvard, Cambridge, MA 02139 USA..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0003-4084-3099
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2023 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 380, no 6643, article id eabn3943Article in journal (Refereed) Published
Abstract [en]

Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (similar to 10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.
Place, publisher, year, edition, pages
American Association for the Advancement of Science (AAAS), 2023. Vol. 380, no 6643, article id eabn3943
National Category
Evolutionary Biology Genetics and Genomics
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URN: urn:nbn:se:uu:diva-505574DOI: 10.1126/science.abn3943ISI: 000989260500005PubMedID: 37104599OAI: oai:DiVA.org:uu-505574DiVA, id: diva2:1773050
Funder
EU, European Research Council, CEX2018-000792-MSwedish Research CouncilSwedish Research Council, R01HG008742Knut and Alice Wallenberg FoundationSwedish Research Council, RO1-HG002939Available from: 2023-06-22 Created: 2023-06-22 Last updated: 2025-02-01Bibliographically approved

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Christmas, MatthewDong, Michael X.Bianchi, MatteoMeadows, Jennifer R.S.Wallerman, OlaKozyrev, Sergey V.Marinescu, VoichitaLindblad-Toh, Kerstin

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Christmas, MatthewKaplow, Irene M.Dong, Michael X.Hughes, Graham M.Hindle, Allyson G.Bianchi, MatteoBreit, Ana M.Diekhans, MarkMeadows, Jennifer R.S.Ryan, LouiseValenzuela, AlejandroWallerman, OlaKozyrev, Sergey V.Marinescu, VoichitaShapiro, BethLevesque, Danielle L.Lindblad-Toh, Kerstin
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Department of Medical Biochemistry and MicrobiologyScience for Life Laboratory, SciLifeLab
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