title: [The origin of Yakuts: analysis of Y-chromosome haplotypes].
abstract: Gene pool structure of Sakha Republic (Yakutia) native population has been studied: we defined composition and frequencies of Y-chromosome haplogroups for Yakuts. Six haplogroups: C3 x M77, C3c, N*, N2, N3a and R1a1 have been revealed in Yakut gene pool. A greater part of Y-chromosome in Yakut population belongs to N3a haplogroup (89%). All investigated Yakut population samples have low values of gene diversity, calculated based on haplogroup frequencies. Gene differentiation of the investigated samples estimated using the analysis of molecular variance (AMOVA) by two marker systems (haplogroup frequencies and microsatellite haplotypes of Y-chromosome) revealed a portion of interpopulation differences amounting to 0.24 and 2.85%, respectively. Frequencies and molecular phylogeny of YSTR-haplotypes were revealed for N3a haplogroup of Y-chromosome. Altogether forty haplotypes were found in Yakuts. Evenks and Yakuts are characterized by overlapping and very specific spectrum of N3a haplotypes, which is not typical for other Siberian ethnic groups. Cluster analysis of populations by N3a YSTR-haplotypes shows Yakut isolation from Turkic-speaking populations in the South Siberia. Genetic diversity generation time for a specific spectrum of Yakut haplotypes was estimated as 4.45 +/- 1.96 thousand years. As opposed to the data on mtDNA, the obtained results give an evidence for significant contribution of a local palaeolithic component into Y-chromosomal Yakut gene pool. Ethnogenetic reconstruction of the present picture of genetic diversity in N3a haplogroup in the territory of Siberia is under consideration.
authors.forename: V N
authors.initials: VN
authors.lastname: Khar'kov
authors.forename: V A
authors.initials: VA
authors.lastname: Stepanov
authors.forename: O F
authors.initials: OF
authors.lastname: Medvedev
authors.forename: M G
authors.initials: MG
authors.lastname: Spiridonova
authors.forename: N R
authors.initials: NR
authors.lastname: Maksimova
authors.forename: A N
authors.initials: AN
authors.lastname: Nogovitsyna
authors.forename: V P
authors.initials: VP
authors.lastname: Puzyrev
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D010802:Phylogeny; D012800:Siberia / Q000208:ethnology
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers