ArticleMolecular biology and evolution2020
Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.
Article in Molecular biology and evolution, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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41 citing papers in PubMed, 147 citations in OpenAlex.
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- Multi-scalar Analysis of a Southern African Assemblage: The Middle Stone Age at Ha Makotoko, Lesotho.Journal of paleolithic archaeology · 2025Article
- Tracing contact and migration in pre-Bantu Southern Africa through lexical borrowing.Evolutionary human sciences · 2025Article
- Deep history of cultural and linguistic evolution among Central African hunter-gatherers.Nature human behaviour · 2024Article
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- Hunter-gatherer genetics research: Importance and avenues.Evolutionary human sciences · 2024Article
- Genome-wide variation in the Angolan Namib Desert reveals unique pre-Bantu ancestry.Science advances · 2023Article
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The southern African indigenous Khoe-San populations harbor the most divergent lineages of all living peoples. Exploring their genomes is key to understanding deep human history. We sequenced 25 full genomes from five Khoe-San populations, revealing many novel variants, that 25% of variants are unique to the Khoe-San, and that the Khoe-San group harbors the greatest level of diversity across the globe. In line with previous studies, we found several gene regions with extreme values in genome-wide scans for selection, potentially caused by natural selection in the lineage leading to Homo sapiens and more recent in time. These gene regions included immunity-, sperm-, brain-, diet-, and muscle-related genes. When accounting for recent admixture, all Khoe-San groups display genetic diversity approaching the levels in other African groups and a reduction in effective population size starting around 100,000 years ago. Hence, all human groups show a reduction in effective population size commencing around the time of the Out-of-Africa migrations, which coincides with changes in the paleoclimate records, changes that potentially impacted all humans at the time.
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