Статья

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

Carina M. SchlebuschDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, SwedenPontus SkoglundDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, SwedenPer SjödinDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, SwedenLucie M. GattepailleDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, SwedenDena HernándezLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USAFlora JayDepartment of Integrative Biology, University of California, Berkeley, CA 94720, USASen LiDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, SwedenMichael de JonghDepartment of Anthropology and Archaeology, University of South Africa, Pretoria, South AfricaAndrew SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USAMichaël G. B. BlumLaboratoire TIMC-IMAG UMR 5525, Université Joseph Fourier, Centre National de la Recherche Scientifique, Grenoble, FranceHimla SoodyallHuman 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, South AfricaMattias JakobssonDepartment of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, Sweden

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Аннотация

The history of click-speaking Khoe-San, and African populations in general, remains poorly understood. We genotyped ~2.3 million single-nucleotide polymorphisms in 220 southern Africans and found that the Khoe-San diverged from other populations ≥100,000 years ago, but population 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 protection from ultraviolet light; 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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Идентификаторы

DOI: 10.1126/science.1227721

Цитирования и источники

Цитирований: 2Использованных источников: 0

Показатели — AkademScholar