ArticleAmerican journal of human genetics2013
Ancient substructure in early mtDNA lineages of southern Africa.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Recovering the precolonial population structure of Khoe-San descendant populations.Science advances · 2026Article
- Revisiting the African mtDNA landscape through complete mitochondrial genomes.Communications biology · 2026Article
- Insights into human history and complex traits from the genomes of African populations.Molecular biology and evolution · 2026Review
- Recovering the pre-colonial population structure of Khoe-San descendant populations.bioRxiv : the preprint server for biology · 2025Article
- Wide-scale geographical analysis of genetic ancestry in the South African Coloured population.BMC biology · 2025Article
- Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations.Annals of human genetics · 2025Article
- 9,000 years of genetic continuity in southernmost Africa demonstrated at Oakhurst rockshelter.Nature ecology & evolution · 2024Article
- Review
- The recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans.Genome biology · 2022Article
- African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing.Scientific reports · 2022Article
- GWAS in the southern African context.PloS one · 2022Article
- Male-biased migration from East Africa introduced pastoralism into southern Africa.BMC biology · 2021Article
- The genomic prehistory of peoples speaking Khoisan languages.Human molecular genetics · 2021Review
- The deep population history in Africa.Human molecular genetics · 2021Review
- Bantu-speaker migration and admixture in southern Africa.Human molecular genetics · 2021Review
- Article
- Genetic Affinities among Southern Africa Hunter-Gatherers and the Impact of Admixing Farmer and Herder Populations.Molecular biology and evolution · 2019Article
- African evolutionary history inferred from whole genome sequence data of 44 indigenous African populations.Genome biology · 2019Article
- MitoIMP: A Computational Framework for Imputation of Missing Data in Low-Coverage Human Mitochondrial Genome.Bioinformatics and biology insights · 2019Article
- Population Structure and Implications on the Genetic Architecture of HIV-1 Phenotypes Within Southern Africa.Frontiers in genetics · 2019Review
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6 authors.
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Abstract
Among the deepest-rooting clades in the human mitochondrial DNA (mtDNA) phylogeny are the haplogroups defined as L0d and L0k, which are found primarily in southern Africa. These lineages are typically present at high frequency in the so-called Khoisan populations of hunter-gatherers and herders who speak non-Bantu languages, and the early divergence of these lineages led to the hypothesis of ancient genetic substructure in Africa. Here we update the phylogeny of the basal haplogroups L0d and L0k with 500 full mtDNA genome sequences from 45 southern African Khoisan and Bantu-speaking populations. We find previously unreported subhaplogroups and greatly extend the amount of variation and time-depth of most of the known subhaplogroups. Our major finding is the definition of two ancient sublineages of L0k (L0k1b and L0k2) that are present almost exclusively in Bantu-speaking populations from Zambia; the presence of such relic haplogroups in Bantu speakers is most probably due to contact with ancestral pre-Bantu populations that harbored different lineages than those found in extant Khoisan. We suggest that although these populations went extinct after the immigration of the Bantu-speaking populations, some traces of their haplogroup composition survived through incorporation into the gene pool of the immigrants. Our findings thus provide evidence for deep genetic substructure in southern Africa prior to the Bantu expansion that is not represented in extant Khoisan populations.
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