Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.

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Schlebusch CM, Sjödin P, Breton G, Günther T, Naidoo T, Hollfelder N, Sjöstrand AE, Xu J, Gattepaille LM, Vicente M, Scofield DG, Malmström H, de Jongh M, Lombard M, Soodyall H, Jakobsson M

Mol. Biol. Evol. 37 (10) 2944-2954 [2020-10-01; online 2020-07-23]

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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NGI Uppsala (SNP&SEQ Technology Platform) [Service]

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PubMed 32697301

DOI 10.1093/molbev/msaa140

Crossref 10.1093/molbev/msaa140

pii: 5874945
pmc: PMC7530619