Diversity of gene pools in twelve Tuvan tribal groups (based on Y-chromosome haplogroup data)

Introduction. Studying the ethnogenesis of Tuvans through the prism of the gene pools of their ancestral groups makes it possible to highlight the problem of the Mongolian influence on the formation of their gene pool: Tuvans are characterized by close ethno-cultural ties with Mongol-speaking tribes of Central Asia; Tuvans have an increased contribution of the Mongoloid anthropological variant; the Tuvan language ranks first among Turkic languages in terms of the number of Mongolian loanwords. Materials and methods. A total sample of representatives of 12 Tuvan tribal groups (N=498) was studied using 60 SNP markers of the Y chromosome, characteristic of Northern Eurasian populations. 24 Y-haplogroups have been identified in the Tuvan gene pool. A comparison of the genetic differences between the tribal groups and between the territorial groups of Tuvans has been carried out. A generalized anthropological portrait of the Tuvan tribal groups Dongak and Sat has been created. A multidimensional statistical analysis 12 of Tuvan tribal groups in the genetic space of South Siberia and Central Asia was carried out. Results. The «Paleosiberian» haplogroup Q1b-L56 is characterized by a clinal variability of increasing frequency from west to east; the direction of variability of haplogroup N1-F963 is opposite - its frequency increases from east to west. The maximum frequencies of the «Central Asian» haplogroups C2-M217, O1-F492, and O2-M122 were found in the southern Tuvan tribal groups, while the minimum frequencies were found in the western and northeastern tribal groups. The position of Tuvan tribal groups in the genetic space of the populations of Southern Siberia and Central Asia demonstrates the multicomponent nature of the formation of the gene pools of Tuvan tribal groups on a single Samoyed-Ket substrate connecting them with other populations of Southern Siberia. Interaction with Mongolian-speaking tribes is reflected in the gene pool of only individual Tuvan clans (most strongly in the tribal group Kyrgys). Generalized anthropological portraits of the Dongak and Sat ancestral groups are consistent with the results of Y-chromosome analysis: the increased frequency of "Central Asian" haplogroups is characteristic of the Sat. The differences between gene pools of tribal groups are more significant than between territorial groups of Tuvans. Conclusion. The analysis of gene pools in 12 tribal groups has shown that for ethnic groups preserved the memory of the ancestral structure, the most informative is a study of gene pools of their tribal groups, rather than territorial entities. © 2025. This work is licensed under a CC BY 4.0 license