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Title: Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans
Authors: Metspalu, Mait
Kivisild, Toomas
Metspalu, Ene
Parik, Juri
Hudjashov, Georgi
Kaldma, Katrin
Serk, Piia
Karmin, Monika
Behar, Doron M.
Gilbert, M. Thomas P.
Endicott, Phillip
Mastana, Sarabjit S.
Papiha, Surinder S.
Skorecki, Karl
Torroni, Antonio
Villems, Richard
Keywords: Genetics
Issue Date: 2004
Publisher: BioMed Central (© the authors)
Citation: METSPALU, M. ... et al., 2004. Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genetics, DOI: 10.1186/1471-2156-5-26.
Abstract: Background: Recent advances in the understanding of the maternal and paternal heritage of south and southwest Asian populations have highlighted their role in the colonization of Eurasia by anatomically modern humans. Further understanding requires a deeper insight into the topology of the branches of the Indian mtDNA phylogenetic tree, which should be contextualized within the phylogeography of the neighboring regional mtDNA variation. Accordingly, we have analyzed mtDNA control and coding region variation in 796 Indian (including both tribal and caste populations from different parts of India) and 436 Iranian mtDNAs. The results were integrated and analyzed together with published data from South, Southeast Asia and West Eurasia. Results: Four new Indian-specific haplogroup M sub-clades were defined. These, in combination with two previously described haplogroups, encompass approximately one third of the haplogroup M mtDNAs in India. Their phylogeography and spread among different linguistic phyla and social strata was investigated in detail. Furthermore, the analysis of the Iranian mtDNA pool revealed patterns of limited reciprocal gene flow between Iran and the Indian sub-continent and allowed the identification of different assemblies of shared mtDNA sub-clades. Conclusions: Since the initial peopling of South and West Asia by anatomically modern humans, when this region may well have provided the initial settlers who colonized much of the rest of Eurasia, the gene flow in and out of India of the maternally transmitted mtDNA has been surprisingly limited. Specifically, our analysis of the mtDNA haplogroups, which are shared between Indian and Iranian populations and exhibit coalescence ages corresponding to around the early Upper Paleolithic, indicates that they are present in India largely as Indian-specific sub-lineages. In contrast, other ancient Indian-specific variants of M and R are very rare outside the sub-continent.
Sponsor: This work was supported by Estonian Science Foundation grants 514 (to RV), 5574 (to TK), 5807 (to EM), the Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2002 and 2003 (to AT), and European Commission grants ICA1CT20070006 and QLG2-CT-2002-90455 (to RV).
Version: Published
DOI: 10.1186/1471-2156-5-26
URI: https://dspace.lboro.ac.uk/2134/26097
Publisher Link: http://dx.doi.org/10.1186/1471-2156-5-26
ISSN: 1471-2156
Appears in Collections:Published Articles (Sport, Exercise and Health Sciences)

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