Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
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Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the ≠Khomani Bushmen of South Africa, including speakers of the nearly extinct N|u language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations. We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by F(ST), in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world.
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Southern African KhoeSan populations are the most polymorphic modern human populations yet studied.
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Maglo, K. N., Mersha, T. B., & Martin, L. J. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00022 · Cited by 106 · see citing works
Lorente-Galdos, B., Lao, O., Serra-Vidal, G., Santpere, G., Kuderna, L. F. K., Arauna, L. R., Fadhlaoui-Zid, K., Pimenoff, V. N., Soodyall, H., Zalloua, P., et al. (2019) · Genome Biology · doi:10.1186/s13059-019-1684-5 · Cited by 77 · see citing works
Self-citationGlobal genetic variation at OAS1 provides evidence of archaic admixture in Melanesian populations
Mendez, F. L., Watkins, J. C., & Hammer, M. F. (2012) · Molecular Biology and Evolution · doi:10.1093/molbev/msr301 · Cited by 79 · see citing works
Kuipers, R. S., Joordens, J. C. A., & Muskiet, F. A. J. (2012) · Nutrition Research Reviews · doi:10.1017/s0954422412000017 · Cited by 43 · see citing works
- Authors
- Henn, B. M., Gignoux, C. R., Jobin, M., Granka, J. M., Macpherson, J. M., Kidd, J. M., Rodríguez-Botigué, L., Ramachandran, S., Hon, L., Brisbin, A., Lin, A. A., Underhill, P. A., Comas, D., Kidd, K. K., Norman, P. J., Parham, P., Bustamante, C. D., Mountain, J. L., & Feldman, M. W.
- Affiliations
- Stanford University (US)
- University of California, San Francisco (US)
- Santa Clara University (US)
- 23andMe (United States) (US)
- Institute of Evolutionary Biology, Universitat Pompeu Fabra, 08003 Barcelona, Spain;
- Brown University (US)
- Cornell University (US)
- Universitat Pompeu Fabra (ES)
- Department of Genetics, Yale University School of Medicine, New Haven, CT 06520; and
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2011-03-07
- Volume
- 108
- Issue
- 13
- Pages
- 5154-5162
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3069156
- OpenAlex
- W2130799876
- Cited by
- 502
- References
- 72
- Citations by year
- 2026: 8 · 2025: 52 · 2024: 16 · 2023: 34 · 2022: 24 · 2021: 22 · 2020: 19 · 2019: 44 · 2018: 50 · 2017: 25 · 2016: 28 · 2015: 37 · 2014: 49 · 2013: 27 · 2012: 42
- FWCI
- 28.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Funders
- National Human Genome Research Institute (R01HG003229)
- National Institute of General Medical Sciences (R01GM028016)
- National Institute of Allergy and Infectious Diseases (R01AI017892)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
- Keywords
- human origins, Hadza, Sandawe, linkage disequilibrium, genetic differentiation, F(ST), genetic diversity, population bottleneck, sex-biased migration, human prehistory
- MeSH terms
- Africa, Culture, Ethnicity, Biological Evolution, Genetics, Population, Humans, Genetic Variation, Linkage Disequilibrium, Genome, Human, Polymorphism, Single Nucleotide, Black People
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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