POSTER NO: 198

Y-chromosome haplotype diversity in populations of Altaic language family

Vadim Stepanov, Valery Puzyrev, Maria Spiridonova, Vladimir Kharkov, Irina Khitrinskaya
Institute of Medical Genetics, Nab. Ushayky 10, Tomsk, 634050, Russia

Distribution of Y-chromosome haplotypes in 10 ethnic groups of Siberia and Middle Asia belonging to Altaic language family (Tuva, Buriat, Northern and Southern Altai, Evenk, Kirghiz, Uzbek, Siberian Tatar, Uighur,Yakut) was investigated in order to reconstruct the evolution of paternal lineages in North Eurasia. Compound haplotypes were constructed for more than 400 Y chromosomes using five biallelic loci (SRY3225, YAP, DYF155S2, Tat and DYS199) and seven microsatellites (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393). Automated genotyping of STR loci was performed with HEX-, TET- or FAM-labeled primers with the ABIPrism310 genetic analyzer and Genescan software. High level of gene diversity (H=1.00) and substantial degree of genetic differentiation of male-specific gene pool (Fst = 0.212) in modern North Eurasian populations were found. Haplotypic lineages and their evolutionary relationships were reconstructed. It was shown that most haplotypes in modern Altaic population have common ancestry traced back to the Upper Paeleolithic period (about 15 kya). According AMOVA data, 5.7% of observed diversity is due to differences between language groups of Altaic family, 19.9% is due to differences between populations within language groups, and only 74.3% of genetic diversity is attributable to within-population level. In most populations more than one lineage was found. Most ancient lineages (7-12 kya) were found in Turcic-speaking poulations of Middle Asia (Uzbek and Kirghiz). Among native Siberian populations most ancient Y lineages was observed in Turkic ethnic groups (Altay and Tuva). The age of Siberian lineages obtained from the microsatellites variance within the 'binary' haplogroup were 5 to 6 kya. Mongol-speaking Buriats and Evenks, belonging to Tungus branch, have relatively 'young' lineages in their male-specific gene pool. Age of two main Y-chromosome clusters in Buriats were 2800 and 4500 kya, and the age of Evenk lineages were 2-3 kya. Using the molecular variance of microsatellite haplotypes the age of ancestral haplotypes for 'binary' haplogroups was estimated. The age of DYF155S2 deletion was estimated as about 6,9 kya, and the age of T-C transition at Tat locus as 4,2 kya.