Moscow University

The gene pool of hunters-reindeer herders of Southern Siberia: Tofalars and Todzhins

Balanovska E.V. (1), Damba L.D. (1,2), Agdzhoyan A.T. (3,1), Zhabagin M.K. (4), Olkova M.V. (1), Kagazezheva Zh.A. (1,3), Utrivan S.А. (1), Koshel S.M. (5), Dybo A.V. (6,7), Balanovsky O.P. (3,1,8)

1) FSBI «Research Centre for Medical Genetics», Moskvorechie st., 1, Moscow, 115522, Russia; 2) Research Institute of Medical and Social Problems and Control of the Healthcare Department, Kechil-ool st., 2A, Kyzyl, 667003, Russia; 3) Vavilov Institute of General Genetics, RAS, Gubkina st., 3, GSP-1, Moscow, 119991, Russia; 4) RSE «National Center for Biotechnology», Kurgalzhynskoye road, 13/5, Astana, 010000, Kazakhstan; 5)Lomonosov Moscow State University, Faculty of Geography, Department of Cartography and Geoinformatics, GSP-1, Moscow, 119991, Russia; 6) Institute of Linguistics, RAS, Bolshoy Kislovsky lane, 1, 1, Moscow, 125009, Russia; 7)Tomsk State University, Laboratory of linguistic anthropology, 634050, Lenin Ave., 36, Tomsk, Russia; 8)Biobank of Northern Eurasia, Kotlyakovskaya st., 3, Moscow, 115201, Russia

Balanovska Elena V., Doctor in Biology, Professor; ORCID ID: 0000-0002-3882-8300;; Damba Larissa D.; ORCID ID: 0000-0003-1736-9210;;. Agdzhoyan Anastasiya T., PhD in Biology; ORCID ID: 0000-0002-8776-2934;; Zhabagin Maksat K., PhD in Biology; ORCID ID: 0000-0003-3414-0610;; Olkova Marina V.; ORCID ID: 0000-0002-2322-6817;; Kagazezheva Zhaneta A., ORCID ID: 0000-0003-1666-0380;; Utrivan Sergey A., ORCID ID: 0000-0002-4459-7211;; Koshel Sergey M., PhD in Geography; ORCID ID: 0000-0002-4540-2922;; Dybo Anna V., Doctor in Philology, Corresponding member of RAS; ORCID ID: 0000-0002-6077-7183;; Balanovsky Oleg P., Doctor in Biology, Professor RAS; ORCID ID: 0000-0003-4218-6889;


Materials and methods. The gene pools of hunters-reindeer herders Tofalars and Todzhins were studied using a panel of 63 SNP and 17 STR Y-chromosome. The samples include only unrelated Tofalars or Todzhins.The haplogroup frequencies have created population genetic portraits, a graph of multidimensional scaling and maps of genetic distances. Correlations between matrices of genetic, linguistic and geographical distances were evaluated. Phylogenetic networks were built on the basis of STR-haplotypes of major haplogroups. Results. Northern Eurasian haplogroups N-L666 and N3a5a predominate in the Tofalar gene pool and represent for more than one quarter in Todzhins. By contrast the haplogroup Q-M242 is prevalent in Todzhins and absent in Tofalars. On the map of genetic distances from Tofalars, the high frequencies N-L666 and N3a5a in their gene pool define areas of their moderate similarity with Western Siberia and Transbaikalia gene pools. A similar study for Todzhins demonstrated their close resemblance with populations of Central Siberia (predominance of haplogroup Q-M242). The correlation analysis of matrices of genetic, linguistic and geographical distances showed a more noticeable linguistic influence (r = 0.80) compared with geography (r = 0.63). The graph of multidimensional scaling fixes the proximity of Tofalar and Todzhin gene pools to the Southern Siberia populations. The haplogroup N3a5a phylogenetic network indicates a long common genetic history of Tofalars and Tuvans, and later stages are characterized by shared history of Tofalars and Todzhins. Conclusion. The ancient genetic strata in Tofalars and Todzhins gene pools (haplogroups N-L666 and N3a5a) makes related them to modern Samoyeds and Transbaikalia populations. The haplogroup Q-M242 links the studied peoples with Samoyeds and Kets. The hypothesis is that ancestral Todzhin and Tofalar gene pools possessed a moderate frequency of Paleosiberian Q-M242, and current differences between them are the result of genetic drift and long-term isolation of Tofalar and Todzhin peoples.


gene geography; human population genetics; Y-chromosome; haplogroups; haplotypes; SNP; STR markers

DOI: 10.32521/2074-8132.2019.4.067-080

Цит.: Balanovska E.V., Damba L.D., Agdzhoyan A.T., Zhabagin M.K., Olkova M.V., Kagazezheva Zh.A., Utrivan S.А., Koshel S.M., Dybo A.V., Balanovsky O.P. The gene pool of hunters-reindeer herders of Southern Siberia: Tofalars and Todzhins // Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2019; 4/2019; с. 67-80

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