ISSN 10227954, Russian Journal of Genetics, 2014, Vol. 50, No. 2, pp. 180–190. © Pleiades Publishing, Inc., 2014. Original Russian Text © V.N. Kharkov, K.V. Khamina, O.F. Medvedeva, K.V. Simonova, E.R. Eremina, V.A. Stepanov, 2014, published in Genetika, 2014, Vol. 50, No. 2, pp. 203–213. HUMAN GENETICS Gene Pool of Buryats: Clinal Variability and Territorial Subdivision Based on Data of YChromosome Markers V. N. Kharkova, K. V. Khaminaa, O. F. Medvedevaa, K. V. Simonovaa, E. R. Ereminab, and V. A. Stepanova a Institute of Medical Genetics, Siberian Branch, Russian Academy of Medical Sciences, nab. Ushaiki 10, Tomsk, 634050 Russia email: [email protected], vladimir.kharkov@medgenetics b Department of Therapy, Buryat State University, ul. Smolin 24a, UlanUde, 670000 Russia Received April 23, 2013 Abstract—The structure of the Buryat gene pool has been studied based on the composition and frequency of Ychromosome haplogroups in eight geographically distant populations. Eleven haplogroups have been found in the Buryat gene pool, two of which are the most frequent (N1c1 and C3d). The greatest difference in haplogroup frequencies was fixed between western and eastern Buryat samples. The evaluation of genetic diversity based on haplogroup frequencies revealed that it has low values in most of the samples. The evalua tion of the genetic differentiation of the examined samples using an analysis of molecular variance (AMOVA) shows that the Buryat gene pool is highly differentiated by haplotype frequencies. Phylogenetic analysis within haplogroups N1c1 and C3d revealed a strong founder effect, i.e., reduced diversity and starlike phy logeny of the median network of haplotypes that form specific subclusters. The results of a phylogenetic anal ysis of the haplogroups identified common genetic components for Buryats and Mongols. DOI: 10.1134/S1022795413110082 INTRODUCTION Buryats are similar to Mongols and western Buryats Buryats are the most numerous indigenous ethnic are close to Yakuts. group of Siberia. According to the population census It is assumed that the Mongol ethnic nucleus only of 2010, there are 461389 Buryats on the territory of began to occupy the leading position among the rest Russia [1]. They are mostly concentrated in regions to the population of Baikal starting in the 11th– the east and west of Lake Baikal, the Sayan–Baikal 13th centuries, during the formation of the Khitan and Highlands, and Eastern Baikal, as well as the south Mongol Empires. The available data lead us suspect eastern part and border of the Central Siberian Pla that there was quite intensive contact between the teau. In addition, Buryats live in North Mongolia and population of the Baikal region and Mongolian tribes in northeast China [2]. The Buryat language belongs during this period up to the 17th century [5]. Since the to the north subgroup of the Mongol group of the Altai 3rd century, the populations of Transbaikalia and Prib language family and has multiple dialects. aikalia have been included in the Central Asian states, The differences between the dialects largely coin i.e., the Huns, Xianbei, Rouran, and other Turks [6]. cide with the ethnic division of their carrier [2]. Buryat The new stage in the history of Buryats starts from the is usually divided into three main dialects by the terri formation of the Khitan (Liao) Empire in the tory, i.e., western, eastern, and southern [3]. 10th century. The distribution of Mongol tribes in Transbaikalia and the mongolization of Buryats began Over the whole territory where they are distributed, at this time. The main nucleus of the Buryat nation, Buryats demonstrate clearly expressed Mongol which assimilated and united different ethnic groups, anthropological peculiarities. In general, with small were Mongol tribes. The question of the origin of these variability of a group of features they may be consid tribes is one of the main problems in Buryat ethnogen ered as the representatives of one centralAsian esis [7]. anthropological type. The other types inhibiting adja cent territories did not participate in the formation of The work continues the series of the studies of Buryat nation [4]. In addition, local variants are sepa indigenous Siberian ethnic groups genofond structure rate from the anthropological type of Buryats. There [8–17]. The aim of this study is to characterize the are expressed physical differences between the eastern Buryat genofond structure, as well as its regional and and western Buryats in general, i.e., eastern Buryats intraethnic subdivision based on an analysis of com belong to Transbaikalian variants, and western Buryats position and structure of Ychromosome haplogroups are included in the Angara–Lena variants of the Cen determined by genotyping the vast set of informative tral Asian anthropological type. In this respect, eastern SNP and STR markers of it nonrecombining part. 180 GENE POOL OF BURYATS 181 5 1 7 4 6 8 2 3 Fig. 1. Map of Buryatia. Numbers designate location of populations (regions). (1, Oka; 2, Dzhida; 3, Kyakhta; 4, UlanUde; 5, kurumkan; 6, Kizhynga; 7, Eravninsky; 8, Aginsky). Until now, the Buryat genofond has been poorly stud lage (N = 44) (Agin–Buryat Autonomous Region of ied using Ychromosome markers. There are no sepa Chita, Agin Buryats). For the statistical treatment, rate works devoted to Buryats and, although the most samples from UlanUde and Khuramsha village were detailed article on South Siberian ethnic groups [14] united into one group designated as “UlanUde.” contains a quite representative sample of Buryats (N = 238), no comparative analysis of subethnic groups was Diallelic loci mainly represented by SNP and poly conducted. In addition, the results of genotyping allelic highly variable microsatellites (YSTR) were Buryat samples were also presented in articles on the used as markers. The classification of the haplogroups phylogeography and origin of different haplogroups was determined based on diallelic markers. The classi [15–17]. fication of haplogroups is given in accordance with the one suggested by the Consortium with regard to study ing the Y chromosome [18] with further modifications MATERIALS AND METHODS [19, 20]. Then, genotyping with a set of microsatellites markers with the determination of individual STR Material for the study was the total DNA extracted haplotypes was conducted for every sample. Based on from the leukocytes of peripheral blood using standard the data on the composition of haplotypes inside the methods. Population samples of ethnic Buryats with groups, their internal diversity and detailed phyloge 297 samples in total were studied. All samples from netic interactions were revealed. different population samples included in the study were separated into eight geographical groups accord The composition of the haplogroups was studied ing to the localization of the place of material gather using 60 markers of the nonrecombinant part of the ing (Fig. 1): Okinsky district (N = 53) (west of the Ychromosome, including M1 (YAP), M3 (DYS199), Republic of Buryatia, ethnoterritorial group of Oka M7, M8, M9, M12, M15, M17, M20, M25, M46 Buryats), Dzhida (N = 31) and Kyakhta (N = 27) (Tat), M47, M56, M64, M67, M70, M73, M77, M86, (south, ethnoterritorial group of Selenga Buryats), the M89, M92, M102, M117, M119, M120, M122, Kizhinga (N = 64) and Eravninsky (N = 30) regions M124, M128, M130, M134, M157, M170, M172, (east, ethnoterritorial group of Khorin Buryats), M173, M174, M175, M178, M198, M201, M204, Kurumkan village (N = 23) (northwest, ethnoterrito M207, M217, M223, M231, M242, M253, M267, rial group of Barguzin Buryats), UlanUde, Khuram M269, M324, M346, M407, M458, SRY1532, 97R7, sha (30 km west of UlanUde) (N = 26) (ethnoterro DYF155S2, 12f2, P25, P31, P37, and P43. Genotyp torial group of Kudarinsk Buryats), and Aginskoe vil ing was conducted by PCR and the further study of RUSSIAN JOURNAL OF GENETICS Vol. 50 No. 2 2014 182 KHARKOV et al. DNA fragments was carried by various methods as RESULTS AND DISCUSSION described earlier [21–22]. Frequencies of YChromosome Haplogroups Microsatellite markers. The haplotypes were ana in Samples of Buryat Population lyzed using 17 microsatellite markers of the nonre Eleven haplogroups (C3*, C3c, C3d, E, N1b, combinant part of the Y chromosome (DYS: 19, 385a, N1c1, O3a*, O3a3c*, O3a3c1, R1a1a and R2a) were 385b, 388, 389I, 389II, 390, 391, 392, 393, 426, 434, revealed in the Buryat gene pool (Table 1). The highest 435, 436, 437, 438, 439). Fluorescentlabeled primers frequency in all seven territorial groups of Buryats was with the HEX, FAM, TET, and NED stains synthe observed for N1c1 and C3d haplogroups. Only these sized by Applied Biosystems were used. Genotyping haplogroups were present in all eight geographical was conducted on ABI Prism 310 and ABI Prism groups of populations. Their total share varies from 3130xl genetic analyzers. The following primer 55% in the Kyakhta region to 90% in Eravninsk and sequences were previously described for DYS: in works Kizhinga. The only exclusion is the population of [8, 23], 19, 389I, 389II, 390, 391, 392, and 393; in the Selenga Buryats from the Dzhida region where the article [24], 385a, 385b, 388, 426, and 438; and, in haplogroups C3* and R2a were the most numerous. article [25], 434, 435, 436, 437, and 439. The size of The populations tested in this work are separated the fragments was analyzed in GeneMapper software. into two groups by the frequency of representation in Nomenclature of alleles is given in accordance with their gene pool of the most frequent haplogroup N1c1, the commonly accepted (for DYS389I without taking which may be conditionally designated as “western” into account the threecopy TCTG repeat and, for and “eastern.” In the western group (Oka, Barguzin, DYS437, without taking into account terminal tan Selenga and Kudarinsk Buryats), the frequency of the dems [TCTG]2–[TCTA]4). N1c1 haplogroup ranges from 8.7% (Kurumkan vil lage) to 37% (Kyakhta region). The east group Statistical methods.