title: The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes.
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.
authors.affiliation: Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia. ktambets@ebc.ee
authors.forename: Kristiina
authors.initials: K
authors.lastname: Tambets
authors.forename: Siiri
authors.initials: S
authors.lastname: Rootsi
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.forename: Hela
authors.initials: H
authors.lastname: Help
authors.forename: Piia
authors.initials: P
authors.lastname: Serk
authors.forename: Eva-Liis
authors.initials: EL
authors.lastname: Loogväli
authors.forename: Helle-Viivi
authors.initials: HV
authors.lastname: Tolk
authors.forename: Maere
authors.initials: M
authors.lastname: Reidla
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.forename: Liana
authors.initials: L
authors.lastname: Pliss
authors.forename: Oleg
authors.initials: O
authors.lastname: Balanovsky
authors.forename: Andrey
authors.initials: A
authors.lastname: Pshenichnov
authors.forename: Elena
authors.initials: E
authors.lastname: Balanovska
authors.forename: Marina
authors.initials: M
authors.lastname: Gubina
authors.forename: Sergey
authors.initials: S
authors.lastname: Zhadanov
authors.forename: Ludmila
authors.initials: L
authors.lastname: Osipova
authors.forename: Larisa
authors.initials: L
authors.lastname: Damba
authors.forename: Mikhail
authors.initials: M
authors.lastname: Voevoda
authors.forename: Ildus
authors.initials: I
authors.lastname: Kutuev
authors.forename: Marina
authors.initials: M
authors.lastname: Bermisheva
authors.forename: Elza
authors.initials: E
authors.lastname: Khusnutdinova
authors.forename: Vladislava
authors.initials: V
authors.lastname: Gusar
authors.forename: Elena
authors.initials: E
authors.lastname: Grechanina
authors.forename: Jüri
authors.initials: J
authors.lastname: Parik
authors.forename: Erwan
authors.initials: E
authors.lastname: Pennarun
authors.forename: Christelle
authors.initials: C
authors.lastname: Richard
authors.forename: Andre
authors.initials: A
authors.lastname: Chaventre
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Moisan
authors.forename: Lovorka
authors.initials: L
authors.lastname: Barác
authors.forename: Marijana
authors.initials: M
authors.lastname: Pericić
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
authors.forename: Rifat
authors.initials: R
authors.lastname: Terzić
authors.forename: Ilia
authors.initials: I
authors.lastname: Mikerezi
authors.forename: Astrida
authors.initials: A
authors.lastname: Krumina
authors.forename: Viesturs
authors.initials: V
authors.lastname: Baumanis
authors.forename: Slawomir
authors.initials: S
authors.lastname: Koziel
authors.forename: Olga
authors.initials: O
authors.lastname: Rickards
authors.forename: Gian Franco
authors.initials: GF
authors.lastname: De Stefano
authors.forename: Nicholas
authors.initials: N
authors.lastname: Anagnou
authors.forename: Kalliopi I
authors.initials: KI
authors.lastname: Pappa
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Michalodimitrakis
authors.forename: Vladimir
authors.initials: V
authors.lastname: Ferák
authors.forename: Sandor
authors.initials: S
authors.lastname: Füredi
authors.forename: Radovan
authors.initials: R
authors.lastname: Komel
authors.forename: Lars
authors.initials: L
authors.lastname: Beckman
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005787:Gene Frequency / Q000235:genetics; D005788:Gene Pool; D014644:Genetic Variation / Q000235:genetics; D005843:Geography; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D010802:Phylogeny; D012800:Siberia / Q000208:ethnology; D013997:Time Factors
chemical_list: D004272:DNA, Mitochondrial