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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|
Behar, Doron M.
Gilbert, M. Thomas P.
Mastana, Sarabjit S.
Papiha, Surinder S.
|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).|
|Publisher Link: ||http://dx.doi.org/10.1186/1471-2156-5-26|
|Appears in Collections:||Published Articles (Sport, Exercise and Health Sciences)|
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