Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/50892
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Type: Journal article
Title: The dawn of human matrilineal diversity
Author: Behar, D.
Villems, R.
Soodyall, H.
Blue-Smith, J.
Pereira, L.
Metspalu, E.
Scozzari, R.
Makkan, H.
Tzur, S.
Comas, D.
Bertranpetit, J.
Quintana-Murci, L.
Tyler-Smith, C.
Spencer Wells, R.
Rosset, S.
Cooper, A.
Citation: American Journal of Human Genetics, 2008; 82(5):1130-1140
Publisher: Univ Chicago Press
Issue Date: 2008
ISSN: 0002-9297
1537-6605
Contributor: Cooper, Alan
Statement of
Responsibility: 
Doron M. Behar, Richard Villems, Himla Soodyall, Jason Blue-Smith, Luisa Pereira, Ene Metspalu, Rosaria Scozzari, Heeran Makkan, Shay Tzur, David Comas, Jaume Bertranpetit, Lluis Quintana-Murci, Chris Tyler-Smith, R. Spencer Wells, Saharon Rosset, and The Genographic Consortium
Abstract: The quest to explain demographic history during the early part of human evolution has been limited because of the scarce paleoanthropological record from the Middle Stone Age. To shed light on the structure of the mitochondrial DNA (mtDNA) phylogeny at the dawn of Homo sapiens, we constructed a matrilineal tree composed of 624 complete mtDNA genomes from sub-Saharan Hg L lineages. We paid particular attention to the Khoi and San (Khoisan) people of South Africa because they are considered to be a unique relic of hunter-gatherer lifestyle and to carry paternal and maternal lineages belonging to the deepest clades known among modern humans. Both the tree phylogeny and coalescence calculations suggest that Khoisan matrilineal ancestry diverged from the rest of the human mtDNA pool 90,000-150,000 years before present (ybp) and that at least five additional, currently extant maternal lineages existed during this period in parallel. Furthermore, we estimate that a minimum of 40 other evolutionarily successful lineages flourished in sub-Saharan Africa during the period of modern human dispersal out of Africa approximately 60,000-70,000 ybp. Only much later, at the beginning of the Late Stone Age, about 40,000 ybp, did introgression of additional lineages occur into the Khoisan mtDNA pool. This process was further accelerated during the recent Bantu expansions. Our results suggest that the early settlement of humans in Africa was already matrilineally structured and involved small, separately evolving isolated populations.
Keywords: Genographic Consortium; Humans; DNA, Mitochondrial; Genetics, Population; Evolution, Molecular; Phylogeny; Haplotypes; Models, Genetic; Molecular Sequence Data; Genetic Variation
Description: University of Adelaide consortium member: Alan Cooper
Rights: Copyright © 2008 The American Society of Human Genetics Published by Elsevier Inc.
RMID: 0020084804
DOI: 10.1016/j.ajhg.2008.04.002
Appears in Collections:Earth and Environmental Sciences publications
Australian Centre for Ancient DNA publications
Environment Institute Leaders publications

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