Tambets, KristiinaRootsi, SiiriKivisild, ToomasHelp, HelaSerk, PiiaLoogväli, Eva LiisTolk, Helle ViiviReidla, MaereMetspalu, EnePliss, LianaBalanovsky, OlegPshenichnov, AndreyBalanovska, ElenaGubina, MarinaZhadanov, SergeyOsipova, LudmilaDamba, LarisaVoevoda, MikhailKutuev, IldusBermisheva, MarinaKhusnutdinova, ElzaGusar, VladislavaGrechanina, ElenaParik, JüriPennarun, ErwanRichard, ChristelleChaventre, AndreMoisan, Jean PaulBarać, LovorkaPeričić, MarijanaRudan, PavaoTerzić, RifatMikerezi, IliaKrumina, AstridaBaumanis, ViestursKoziel, SlawomirRickards, OlgaDe Stefano, Gian FrancoAnagnou, NicholasPappa, Kalliopi I.Michalodimitrakis, EmmanuelFerák, VladimirFüredi, SandorKomel, RadovanBeckman, LarsVillems, Richard2021-10-072021-10-072004-04Tambets, 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/10.1086/3832030002-9297https://dspace.rsu.lv/jspui/handle/123456789/6587Funding 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.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.221406023enginfo:eu-repo/semantics/openAccess1.6 Biological sciences3.1 Basic medicine3.2 Clinical medicine3.3. Publications in conference proceedings indexed in Web of Science and/or Scopus databaseGeneticsGenetics(clinical)/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article10.1086/383203http://www.scopus.com/inward/record.url?scp=12144289934&partnerID=8YFLogxKhttps://www-sciencedirect-com.db.rsu.lv/science/article/pii/S0002929707618928