Please use this identifier to cite or link to this item:
10.1086/383203
Title: | The Western and Eastern Roots of the Saami - The Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes |
Authors: | Tambets, Kristiina Rootsi, Siiri Kivisild, Toomas Help, Hela Serk, Piia Loogväli, 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, Jüri Pennarun, Erwan Richard, Christelle Chaventre, Andre Moisan, Jean Paul Barać, Lovorka Peričić, Marijana Rudan, Pavao Terzić, Rifat Mikerezi, Ilia Krumina, Astrida Baumanis, Viesturs Koziel, Slawomir Rickards, Olga De Stefano, Gian Franco Anagnou, Nicholas Pappa, Kalliopi I. Michalodimitrakis, Emmanuel Ferák, Vladimir Füredi, Sandor Komel, Radovan Beckman, Lars Villems, Richard |
Keywords: | 1.6 Biological sciences;3.1 Basic medicine;3.2 Clinical medicine;3.3. Publications in conference proceedings indexed in Web of Science and/or Scopus database;Genetics;Genetics(clinical) |
Issue Date: | Apr-2004 |
Citation: | Tambets , K , Rootsi , S , Kivisild , T , Help , H , Serk , P , Loogväli , E L , Tolk , H V , Reidla , M , Metspalu , E , Pliss , L , Balanovsky , O , Pshenichnov , A , Balanovska , E , Gubina , M , Zhadanov , S , Osipova , L , Damba , L , Voevoda , M , Kutuev , I , Bermisheva , M , Khusnutdinova , E , Gusar , V , Grechanina , E , Parik , J , Pennarun , E , Richard , C , Chaventre , A , Moisan , J P , Barać , L , Peričić , M , Rudan , P , Terzić , R , Mikerezi , I , Krumina , A , Baumanis , V , Koziel , S , Rickards , O , De Stefano , G F , Anagnou , N , Pappa , K I , Michalodimitrakis , E , Ferák , V , Füredi , S , Komel , R , Beckman , L & Villems , R 2004 , ' The Western and Eastern Roots of the Saami - The Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes ' , American Journal of Human Genetics , vol. 74 , no. 4 , pp. 661-682 . https://doi.org/10.1086/383203 |
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. |
Description: | Funding Information: We thank Tatyana Karafet and Boris Malyarchuk, for useful information; Henry Harpending, for the program POPSTR; Vincent Macaulay, for the program SAMPLING; Ille Hilpus and Jaan Lind, for technical assistance; and Charles Kurland and Thomas Gilbert, for helpful discussion and comments. We are grateful to two anonymous reviewers for their suggestions and advice. The research of R.V. was supported by Estonian basic research grant 514 and European Commission Directorate General Research grant ICA1CT20070006. The research of T.K. was supported by Estonian basic research grant 5574. The work of E.K. was supported by the Russian Foundation for Basic Research (project number 01-04-48487a) and the Ministry of Sciences and Technology of Russia. M.G., S.Z., and L.O. received support from expedition grants from the Siberian Branch of the Russian Academy of Sciences (1992–1997) and the Russian Foundation of Basic Research (project number 02-06-80524-a), and the research of P.R. received support from project number 0196005 of the Ministry of Science and Technology of the Republic of Croatia. |
DOI: | 10.1086/383203 |
ISSN: | 0002-9297 |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
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The_Western.pdf | 1.37 MB | Adobe PDF | View/Open |
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