Refining the Y chromosome phylogeny with southern African sequences

• DOI: 10.1007/s00439-016-1651-0
• Publication Date: 2016-04-04T12:07:01Z
• Authors: Chiara Barbieri; Alexander Hübner; Enrico Macholdt; Shengyu Ni; Sebastian Lippold; Roland Schröder; Sununguko Wata Mp...; Josephine Purps; Lutz Roewer; Mark Stoneking; Brigitte Pakendorf
• Keywords: Haplogroup; Bantu languages; Variation (astronomy)

The recent availability of large-scale sequence data for the human Y chromosome has revolutionized analyses and insights gained from this non-recombining, paternally inherited chromosome. However, studies to date focus on Eurasian variation, hence diversity early-diverging branches found in Africa not been adequately documented. Here, we analyze over 900 kb obtained 547 individuals southern African Khoisan- Bantu-speaking populations, identifying 232 new sequences basal haplogroups A B. We identify clades phylogeny, an older age root, substantially ages some individual haplogroups. Furthermore, while haplogroup B2a is traditionally associated with spread Bantu speakers, find that it probably also existed Khoisan groups before arrival speakers. Finally, there pronounced variation branch length between major haplogroups; particular, speakers have significantly longer branches. Technical artifacts cannot explain which instead likely reflects aspects demographic history such as population expansion average paternal age. influence factors broader implications both phylogeny similar other species.