Ancient Substructure in Early mtDNA Lineages of Southern Africa

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Chiara Barbieri (Author) Other; Mario Vicente (Author) Other; Jorge Rocha (Author) FCUP; Sununguko W Mpoloka (Author) Other; Mark Stoneking (Author) Other; Brigitte Pakendorf (Author) Other

Journal

Title: American Journal of Human Genetics

Vol. 92

Pages: 285-292

ISSN: 0002-9297

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 45 Citations

Scopus - 48 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-002-0HW

DOI: 10.1016/j.ajhg.2012.12.010

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8