title: Diversity of mitochondrial DNA lineages in South Siberia.
abstract: To investigate the origin and evolution of aboriginal populations of South Siberia, a comprehensive mitochondrial DNA (mtDNA) analysis (HVR1 sequencing combined with RFLP typing) of 480 individuals, representing seven Altaic-speaking populations (Altaians, Khakassians, Buryats, Sojots, Tuvinians, Todjins and Tofalars), was performed. Additionally, HVR2 sequence information was obtained for 110 Altaians, providing, in particular, some novel details of the East Asian mtDNA phylogeny. The total sample revealed 81% East Asian (M*, M7, M8, M9, M10, C, D, G, Z, A, B, F, N9a, Y) and 17% West Eurasian (H, U, J, T, I, N1a, X) matrilineal genetic contribution, but with regional differences within South Siberia. The highest influx of West Eurasian mtDNAs was observed in populations from the East Sayan and Altai regions (from 12.5% to 34.5%), whereas in populations from the Baikal region this contribution was markedly lower (less than 10%). The considerable substructure within South Siberian haplogroups B, F, and G, together with the high degree of haplogroup C and D diversity revealed there, allows us to conclude that South Siberians carry the genetic imprint of early-colonization phase of Eurasia. Statistical analyses revealed that South Siberian populations contain high levels of mtDNA diversity and high heterogeneity of mtDNA sequences among populations (Fst = 5.05%) that might be due to geography but not due to language and anthropological features.
authors.affiliation: Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, 685000 Magadan, Russia. mderenko@mail.ru
authors.forename: M V
authors.initials: MV
authors.lastname: Derenko
authors.forename: T
authors.initials: T
authors.lastname: Grzybowski
authors.forename: B A
authors.initials: BA
authors.lastname: Malyarchuk
authors.forename: I K
authors.initials: IK
authors.lastname: Dambueva
authors.forename: G A
authors.initials: GA
authors.lastname: Denisova
authors.forename: J
authors.initials: J
authors.lastname: Czarny
authors.forename: C M
authors.initials: CM
authors.lastname: Dorzhu
authors.forename: V T
authors.initials: VT
authors.lastname: Kakpakov
authors.forename: D
authors.initials: D
authors.lastname: Miścicka-Sliwka
authors.forename: M
authors.initials: M
authors.lastname: Woźniak
authors.forename: I A
authors.initials: IA
authors.lastname: Zakharov
mesh_terms: D004272:DNA, Mitochondrial; D014644:Genetic Variation; D006801:Humans; D010802:Phylogeny; D012150:Polymorphism, Restriction Fragment Length; D012800:Siberia / Q000453:epidemiology
chemical_list: D004272:DNA, Mitochondrial