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    The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes


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    Reference Type: Journal Article

    Record Number: 145

    Author: K. Tambets, S. Rootsi, T. Kivisild, H. Help, P. Serk, E. L. Loogvali, H. V. Tolk, M. Reidla, E. Metspalu, L. Pliss, O. Balanovsky, A. Pshenichnov, E. Balanovska, M. Gubina, S. Zhadanov, L. Osipova, L. Damba, M. Voevoda, I. Kutuev, M. Bermisheva, E. Khusnutdinova, V. Gusar, E. Grechanina, J. Parik, E. Pennarun, C. Richard, A. Chaventre, J. P. Moisan, L. Barac, M. Pericic, P. Rudan, R. Terzic, I. Mikerezi, A. Krumina, V. Baumanis, S. Koziel, O. Rickards, G. F. De Stefano, N. Anagnou, K. I. Pappa, E. Michalodimitrakis, V. Ferak, S. Furedi, R. Komel, L. Beckman and R. Villems

    Year: 2004

    Title: The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

    Journal: Am J Hum Genet

    Volume: 74

    Issue: 4

    Pages: 661-82

    Epub Date: 2004/03/17

    Date: Apr

    Short Title: The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

    ISSN: 0002-9297 (Print)

    DOI: 10.1086/383203, S0002-9297(07)61892-8 [pii],

    Accession Number: 15024688

    Keywords: Chromosomes, Human, Y/*genetics, DNA, Mitochondrial/*genetics, Ethnic Groups/*genetics, Europe/ethnology, Gene Frequency/genetics, Gene Pool, Genetic Variation/genetics, Geography, Haplotypes/genetics, Humans, *Phylogeny, Siberia/ethnology, Time Factors,

    Abstract: The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the "Saami motif" variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the "Saami motif," was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found.

    Notes: Tambets, Kristiina, Rootsi, Siiri, Kivisild, Toomas, Help, Hela, Serk, Piia, Loogvali, Eva-Liis, Tolk, Helle-Viivi, Reidla, Maere, Metspalu, Ene, Pliss, Liana, Balanovsky, Oleg, Pshenichnov, Andrey, Balanovska, Elena, Gubina, Marina, Zhadanov, Sergey, Osipova, Ludmila, Damba, Larisa, Voevoda, Mikhail, Kutuev, Ildus, Bermisheva, Marina, Khusnutdinova, Elza, Gusar, Vladislava, Grechanina, Elena, Parik, Juri, Pennarun, Erwan, Richard, Christelle, Chaventre, Andre, Moisan, Jean-Paul, Barac, Lovorka, Pericic, Marijana, Rudan, Pavao, Terzic, Rifat, Mikerezi, Ilia, Krumina, Astrida, Baumanis, Viesturs, Koziel, Slawomir, Rickards, Olga, De Stefano, Gian Franco, Anagnou, Nicholas, Pappa, Kalliopi I, Michalodimitrakis, Emmanuel, Ferak, Vladimir, Furedi, Sandor, Komel, Radovan, Beckman, Lars, Villems, Richard, Research Support, Non-U.S. Gov't, United States, American journal of human genetics, Am J Hum Genet. 2004 Apr;74(4):661-82. Epub 2004 Mar 11.,

    Author Address: Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia. ktambets@ebc.ee

    Language: eng