Refining the Y chromosome phylogeny with southern African sequences
Autor: | Chiara Barbieri, Roland Schröder, Lutz Roewer, Mark Stoneking, Brigitte Pakendorf, Alexander Hübner, Enrico Macholdt, Sununguko Wata Mpoloka, Shengyu Ni, Josephine Purps, Sebastian Lippold |
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Přispěvatelé: | Dynamique Du Langage (DDL), Université Lumière - Lyon 2 (UL2)-Centre National de la Recherche Scientifique (CNRS) |
Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
0106 biological sciences
0301 basic medicine Mutation rate Demographic history Population [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology Black People Bantu languages Biology Y chromosome 010603 evolutionary biology 01 natural sciences Haplogroup 03 medical and health sciences Chromosome (genetic algorithm) Effective population size Phylogenetics Genetic variation Genetics SNP Humans Genetics(clinical) education Genetics (clinical) Phylogeny 030304 developmental biology Original Investigation 0303 health sciences education.field_of_study Chromosomes Human Y Haplotype Genetic Variation humanities 030104 developmental biology Variation (linguistics) Genetics Population Haplotypes Evolutionary biology Africa |
Zdroj: | Human Genetics Human Genetics, Springer Verlag, 2016, 135 (5), pp.541-553. ⟨10.1007/s00439-016-1651-0⟩ |
ISSN: | 0340-6717 1432-1203 |
DOI: | 10.1007/s00439-016-1651-0⟩ |
Popis: | The recent availability of large-scale sequence data for the human Y chromosome has revolutionized analyses of and insights gained from this non-recombining, paternally inherited chromosome. However, the studies to date focus on Eurasian variation, and hence the diversity of early-diverging branches found in Africa has not been adequately documented. Here, we analyze over 900 kb of Y chromosome sequence obtained from 547 individuals from southern African Khoisan- and Bantu-speaking populations, identifying 232 new sequences from basal haplogroups A and B. We identify new clades in the phylogeny, an older age for the root, and substantially older ages for some individual haplogroups. Furthermore, while haplogroup B2a is traditionally associated with the spread of Bantu speakers, we find that it probably also existed in Khoisan groups before the arrival of Bantu speakers. Finally, there is pronounced variation in branch length between major haplogroups; in particular, haplogroups associated with Bantu speakers have significantly longer branches. Technical artifacts cannot explain this branch length variation, which instead likely reflects aspects of the demographic history of Bantu speakers, such as recent population expansion and an older average paternal age. The influence of demographic factors on branch length variation has broader implications both for the human Y phylogeny and for similar analyses of other species. Electronic supplementary material The online version of this article (doi:10.1007/s00439-016-1651-0) contains supplementary material, which is available to authorized users. |
Databáze: | OpenAIRE |
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