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Genomic Variation in Seven Khoe-San Groups Reveals Adaptation and Complex African History

Schlebusch, Carina M. (author)
Uppsala universitet,Evolutionsbiologi,Uppsala University
Skoglund, Pontus (author)
Uppsala universitet,Evolutionsbiologi
Sjödin, Per (author)
Uppsala universitet,Evolutionsbiologi
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Gattepaille, Lucie M. (author)
Uppsala universitet,Evolutionsbiologi
Hernandez, Dena (author)
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda
Jay, Flora (author)
Department of Integrative Biology, University of California, BerkeleyDepartment of Integrative Biology, University of California, Berkeley
Li, Sen (author)
Uppsala universitet,Evolutionsbiologi
De Jongh, Michael (author)
Department of Anthropology and Archaeology, University of South Africa, Pretoria
Singleton, Andrew (author)
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda
Blum, Michael G.B. (author)
Laboratoire TIMC-IMAG UMR 5525, Université Joseph Fourier, Centre National de la Recherche Scientifique, Grenoble
Soodyall, Himla (author)
Human Genomic Diversity and Disease Research Unit, Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand and National Health Laboratory Service, Johannesburg
Jakobsson, Mattias (author)
Uppsala universitet,Evolutionsbiologi,Science for Life Laboratory, SciLifeLab
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 (creator_code:org_t)
American Association for the Advancement of Science (AAAS), 2012
2012
English.
In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 338:6105, s. 374-379
Related links:
https://uir.unisa.ac...
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https://urn.kb.se/re...
https://doi.org/10.1...
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  • Journal article (peer-reviewed)
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  • The history of click-speaking Khoe-San, and African populations in general, remains poorly understood. We genotyped ∼2.3 million SNPs in 220 southern Africans and found that the Khoe-San diverged from other populations ≥100,000 years ago, but structure within the Khoe-San dated back to about 35,000 years ago. Genetic variation in various sub-Saharan populations did not localize the origin of modern humans to a single geographic region within Africa; instead, it indicated a history of admixture and stratification. We found evidence of adaptation targeting muscle function and immune response, potential adaptive introgression of UV-light protection, and selection predating modern human diversification involving skeletal and neurological development. These new findings illustrate the importance of African genomic diversity in understanding human evolutionary history.

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