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    The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations

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    Reference Type: Journal Article

    Record Number: 68

    Author: T. Kivisild, S. Rootsi, M. Metspalu, S. Mastana, K. Kaldma, J. Parik, E. Metspalu, M. Adojaan, H. V. Tolk, V. Stepanov, M. Golge, E. Usanga, S. S. Papiha, C. Cinnioglu, R. King, L. Cavalli-Sforza, P. A. Underhill and R. Villems

    Year: 2003

    Title: The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations

    Journal: Am J Hum Genet

    Volume: 72

    Issue: 2

    Pages: 313-32

    Epub Date: 2003/01/22

    Date: Feb

    Short Title: The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations

    ISSN: 0002-9297 (Print)

    DOI: S0002-9297(07)60541-2 [pii], 10.1086/346068,

    Accession Number: 12536373

    Keywords: Asia, Central/ethnology, Asia, Western/ethnology, Chromosomes, Human, Pair 21, Chromosomes, Human, Y/genetics, DNA, Mitochondrial/analysis/genetics, Ethnic Groups/*genetics, Europe, Gene Frequency, Genetic Variation, *Genetics, Population, Haplotypes, Humans, India, Male, *Phylogeny, Polymorphism, Single Nucleotide, Social Class, Tandem Repeat Sequences,

    Abstract: Two tribal groups from southern India--the Chenchus and Koyas--were analyzed for variation in mitochondrial DNA (mtDNA), the Y chromosome, and one autosomal locus and were compared with six caste groups from different parts of India, as well as with western and central Asians. In mtDNA phylogenetic analyses, the Chenchus and Koyas coalesce at Indian-specific branches of haplogroups M and N that cover populations of different social rank from all over the subcontinent. Coalescence times suggest early late Pleistocene settlement of southern Asia and suggest that there has not been total replacement of these settlers by later migrations. H, L, and R2 are the major Indian Y-chromosomal haplogroups that occur both in castes and in tribal populations and are rarely found outside the subcontinent. Haplogroup R1a, previously associated with the putative Indo-Aryan invasion, was found at its highest frequency in Punjab but also at a relatively high frequency (26%) in the Chenchu tribe. This finding, together with the higher R1a-associated short tandem repeat diversity in India and Iran compared with Europe and central Asia, suggests that southern and western Asia might be the source of this haplogroup. Haplotype frequencies of the MX1 locus of chromosome 21 distinguish Koyas and Chenchus, along with Indian caste groups, from European and eastern Asian populations. Taken together, these results show that Indian tribal and caste populations derive largely from the same genetic heritage of Pleistocene southern and western Asians and have received limited gene flow from external regions since the Holocene. The phylogeography of the primal mtDNA and Y-chromosome founders suggests that these southern Asian Pleistocene coastal settlers from Africa would have provided the inocula for the subsequent differentiation of the distinctive eastern and western Eurasian gene pools.

    Notes: Kivisild, T, Rootsi, S, Metspalu, M, Mastana, S, Kaldma, K, Parik, J, Metspalu, E, Adojaan, M, Tolk, H-V, Stepanov, V, Golge, M, Usanga, E, Papiha, S S, Cinnioglu, C, King, R, Cavalli-Sforza, L, Underhill, P A, Villems, R, GM28428/GM/NIGMS NIH HHS/United States, GM55273/GM/NIGMS NIH HHS/United States, Comparative Study, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., United States, American journal of human genetics, Am J Hum Genet. 2003 Feb;72(2):313-32. Epub 2003 Jan 20.,

    Author Address: Institute of Molecular and Cell Biology, Tartu University, Tartu, Estonia. tkivisil@ebc.ee

    Language: eng