{"entity": "publication", "iuid": "01b0c5d69cef4f199bd3c89cf65bbc77", "timestamp": "2026-09-30T00:47:11.776Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/01b0c5d69cef4f199bd3c89cf65bbc77.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/01b0c5d69cef4f199bd3c89cf65bbc77"}}, "title": "Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.", "authors": [{"family": "Schlebusch", "given": "Carina M", "initials": "CM"}, {"family": "Sj\u00f6din", "given": "Per", "initials": "P"}, {"family": "Breton", "given": "Gwenna", "initials": "G"}, {"family": "G\u00fcnther", "given": "Torsten", "initials": "T"}, {"family": "Naidoo", "given": "Thijessen", "initials": "T"}, {"family": "Hollfelder", "given": "Nina", "initials": "N"}, {"family": "Sj\u00f6strand", "given": "Agnes E", "initials": "AE"}, {"family": "Xu", "given": "Jingzi", "initials": "J"}, {"family": "Gattepaille", "given": "Lucie M", "initials": "LM"}, {"family": "Vicente", "given": "M\u00e1rio", "initials": "M"}, {"family": "Scofield", "given": "Douglas G", "initials": "DG"}, {"family": "Malmstr\u00f6m", "given": "Helena", "initials": "H"}, {"family": "de Jongh", "given": "Michael", "initials": "M"}, {"family": "Lombard", "given": "Marlize", "initials": "M"}, {"family": "Soodyall", "given": "Himla", "initials": "H"}, {"family": "Jakobsson", "given": "Mattias", "initials": "M"}], "type": "journal article", "published": "2020-10-01", "journal": {"title": "Mol. Biol. Evol.", "issn": "1537-1719", "volume": "37", "issue": "10", "pages": "2944-2954", "issn-l": "0737-4038"}, "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.", "doi": "10.1093/molbev/msaa140", "pmid": "32697301", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7530619"}, {"db": "pii", "key": "5874945"}], "notes": [], "created": "2026-09-23T07:28:17.309Z", "modified": "2026-09-23T07:28:17.352Z"}