Hum Genet (2006) 118: 591–604 DOI 10.1007/s00439-005-0076-y ORIGINAL INVESTIGATION Miroslava Derenko Æ Boris Malyarchuk Galina A. Denisova Æ Marcin Wozniak Irina Dambueva Æ Choduraa Dorzhu Æ Faina Luzina Danuta Mis´cicka-S´liwka Æ Ilia Zakharov Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions Received: 18 January 2005 / Accepted: 13 September 2005 / Published online: 27 October 2005 Ó Springer-Verlag 2005 Abstract In order to investigate the genetic history of of Baikal and Altai–Sayan regions. We suggest that autochthonous South Siberian populations and to esti- these regional differences can be best explained by dif- mate the contribution of distinct patrilineages to their ferent contribution of Central/Eastern Asian and East- gene pools, we have analyzed 17 Y-chromosomal binary ern European paternal lineages into gene pools of markers (YAP, RPS4Y711, SRY-8299, M89, M201, modern South Siberians. The population of the Baikal M52, M170, 12f2, M9, M20, 92R7, SRY-1532, DYS199, region demonstrates the prevalence of Central/Eastern M173, M17, Tat, and LLY22 g) in a total sample of Asian lineages, whereas in the populations of Altai and 1,358 males from 14 ethnic groups of Siberia (Altaians- Sayan regions the highest paternal contribution resulted Kizhi, Teleuts, Shors, Tuvinians, Todjins, Tofalars, from Eastern European descent is revealed. Yet, our Sojots, Khakassians, Buryats, Evenks), Central/Eastern data on Y-chromosome STRs variation demonstrate the Asia (Mongolians and Koreans) and Eastern Europe clear differences between the South Siberian and Eastern (Kalmyks and Russians). Based on both, the distribu- European R1a1-lineages with the evolutionary ages tion pattern of Y-chromosomal haplogroups and results compatible with divergence time between these two re- on AMOVA analysis we observed the statistically sig- gional groups. nificant genetic differentiation between the populations Keywords Y-chromosome haplogroups Æ STR Æ South Siberia Æ Central/Eastern Asia Æ Eastern Europe Æ R1a1-lineages M. Derenko (&) Æ B. Malyarchuk Æ G. A. Denisova Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, Magadan, Russia Introduction E-mail: [email protected] Tel.: 7-41322-31164 Fax: 7-41322-34463 A particular significance of the genetic research of the Altai and neighboring regions lies in the geographic M. Wozniak Æ D. Mis´ cicka-S´ liwka location of the Altai area on the margin of south- Forensic Medicine Institute, Ludwik Rydygier Medical College, Nicolaus Copernicus University in Torun, 85-094, Bydgoszcz, western part of Siberia, believed to be the main gate- Poland way for the initial peopling of the remainder of Siberia from the southern regions of Central Asia. Archaeo- I. Dambueva logical data suggest that modern humans in the late Institute of General and Experimental Biology, Russian Academy Pleistocene could have already inhabited South Siberia. of Sciences, 670047, Ulan-Ude, Russia The earliest Upper Paleolithic industries occurred in C. Dorzhu the Altai region and are dated as 43,300±1,600 years Tuva State University, 667035, Kyzyl, Russia B.P. are thought to be linked with a gradual trans- formation of a Mousterian tradition by the introduc- F. Luzina Institute of Professional Diseases and Hygiene Problems, tion of more progressive elements during the early Russian Academy of Medical Sciences, Novokuznetsk stage of the midlast glacial interstadial interval 654041, Russia (45,000–30,000 years B.P.) (Derevianko 1998; Goebel 1999). A similar ‘‘mixed’’ technological character ob- I. Zakharov served in Altai can be found in most of the other Late Animal Comparative Genetics Laboratory, Vavilov Institute of General Genetics, Russian Academy of Sciences, Paleolithic stone industries in Siberia dating to the Gubkin Str. 3, Moscow, Russia second half of the Karginsk interstadial interval. 592 Analogous combinations of both the Mousterian and attributed to low population densities (Rychkov and Late Paleolithic elements are documented in the Sheremetyeva 1980; Cavalli-Sforza et al. 1994; Rych- Transbaikal and Angara River basin regions, as well as kov et al. 2000) as well as the existence of consider- in the upper Yenisei area (Chlachula 2001). They also able correlations among geographic, linguistic, and have been recorded in synchronous industries in genetic variation (Cavalli-Sforza et al. 1994; Karafet Mongolia and North China thus testifying the similar et al. 1994). Recent genetic studies of Siberian popu- processes of the cultural development as in Siberia lations involving the high-resolution mitochondrial (Okladnikov 1981; Derevianko 1998). During the fol- DNA (mtDNA) and Y-chromosomal markers have lowing interval, i.e., at the end of the Karginsk inter- been focused mainly on the peopling of the Americas stadial and in the early last glacial (Sartan) stage, more (Shields et al. 1993; Torroni et al. 1993; Sukernik progressive Late Paleolithic cultures with an advanced et al. 1996; Starikovskaya et al. 1998; Karafet et al. technique of the prismatic core flaking reminiscent of 1999; Santos et al. 1999; Lell et al. 2002; Derenko the European traditions emerged in vast areas of et al. 2000; 2001; Bortolini et al., 2003), on the history Siberia: on the eastern margin of the West Siberian of early human migrations in Eurasia (Zerjal et al. Lowland, in the upper Yenisei River basin, as well as 1997; Wells et al. 2001; Derbeneva et al. 2002), East in the Angara River basin (Derevianko and Zenin Asia (Su et al. 1999; Ke et al. 2001; Karafet et al. 1996; Vasiliev et al. 1999). Such industries, however, 2001) or particular regions of Siberia (Schurr et al. are absent in the Altai area, indicative of complex and 1999; Pakendorf et al. 2003; Derenko et al. 2003; regionally divergent cultural evolution in different parts Fedorova et al. 2003; Puzyrev et al. 2003). MtDNA of Siberia (Chlachula 2001). studies revealed that modern indigenous South Sibe- Unfortunately, archaeological records alone with rian populations show a complex pattern of the the lack of human skeletal remains are inconclusive mtDNA structure reflecting diverse interactions that about the anthropological traits, which were charac- occurred at different times between eastern and wes- teristic for the Upper Paleolithic Siberian population. tern Eurasian gene pools (Derenko et al. 2001; Pa- East Asian features thought to have been derived from kendorf et al. 2003; Derenko et al. 2003; Fedorova early modern East Asians exist in the tooth from the et al. 2003; Puzyrev et al. 2003). It has also been Denisova Cave in the Altai region and in human re- shown that the populations of South Siberia share a mains from the Afontova Gora II site and indicate common genetic substratum with the Central and East that the East Asians had moved into southwestern Asian populations (Derenko et al. 2002; 2003; Pa- Siberia by 21,000 B.P. or even earlier (Alekseev 1998). kendorf et al. 2003), whereas ethnic groups of north- Yet, the Upper Paleolithic artifacts from the 23,000- eastern Siberia (Koryaks and Itel’mens) have stronger year-old Mal’ta site near Lake Baikal in south-central genetic affinities with eastern Siberian/East Asian Siberia (Medvedev et al. 1996) have been found in populations (Schurr et al. 1999). The Y-chromosome association with skeletal remains that bear similar study of Su et al. (1999) (see also Shi et al. 2005) morphology with contemporary anatomically modern suggested that territories of Northern China and humans teeth from Europe thus providing the evi- South Siberia was subsequently populated from dence for links between Siberia and the West during mainland Southeast Asia during the last Ice Age, the Upper Paleolithic. Thus, on assuming that during whereas Karafet et al. (2001, 2002) underscored an the Upper Paleolithic the population of South Siberia important role of Central Asia in the early peopling of was closely related to other East Asian populations, Siberia. In general, a comprehensive survey of Y- then during the Neolithic, admixture with populations chromosome SNP markers revealed that modern from Eastern Europe probably occurred. The preva- aboriginal Siberian populations show the pattern of lence of European features among steppe zone reduced haplogroup diversity within populations inhabitants of Tuva, Altai, Khakassia, and West combined with high level of between-population dif- Mongolia became the most significant since the ferentiation and underscored the important role of Bronze Age or even earlier (Alexeev and Gohman directed dispersals, range expansions, and long-dis- 1984; Alexeev 1989). The boundary of the Eastern tance colonizations bound by common ethnic and European influence is clearly fixed at Lake Baikal. To linguistic affiliation in shaping the genetic landscape of the east of Baikal no palaeoanthropological find bears Siberia (Karafet et al. 2002). any traces of European admixture (Alekseev 1998). Although the Y-chromosome variability data cover Thus, the considerable ethnic diversity in South all major North Asian regional groups, the detailed Siberia was largely shaped by migration processes that data sets for the ethnical groups living in Eastern and had occurred since the initial colonization of the region. South Siberia are still incomplete. The present research Historically, a complex network of migrations can be was aimed at understanding the Y-chromosomal traced from Central, Eastern Asia, and Western Eurasia