mtDNA Variation in Kazakhs of the Southern Altai Republic and Their Relationship toTurkic-speaking Populations

Omer Gokcumen (1), Sergey Zhadanov (1, 2), Ludmila Osipova (2), Theodore G. Schurr (1)1

(1) Department of Anthropology, University of Pennsylvania, Philadelphia, PA; (2) Institute of Cytology and Genetics, SB RAS, Novosibirsk, RussiaABSTRACT: The Altaian Kazakhs inhabit remote mountain districts of the Altai Republic of Russia next to its southern border with Mongolia.However, the history of this Kazakh population, and its genetic relationships with neighboring Turkic-speaking groups, are unclear. It appears thatAltaian Kazakhs began migrating from an area near northwestern Mongolia and China around the end of the 19th century, when some local popula-tions were expelled from their homelands. They then resettled in the Altai Mountain region, where they remained relatively isolated from otherindigenous groups. To clarify the genetic prehistory of Altaian Kazakhs, we analyzed mtDNA variation in ~277 persons from three villages (Chanual,Kosh-Agach, Turata) in the southern Altai Republic. Our results suggested a complex population history for Altaian Kazakhs. Their mtDNA gene poolcontained significant frequencies of both East Eurasian (A-G) and West Eurasian (H, HV, I-K, T, X) haplogroups. The latter constituted a greater pro-portion of their mtDNAs [55-60%]. In addition, there were differences in the overall genetic composition of these villages, particularly in the fre-quencies of haplogroups C, D, F and J, suggesting possible lineal effects within each settlement. The implications of these patterns of variation forconstructing the history of this Kazakh population, and its links to other Turkic-speaking people, will be explored.

INTRODUCTION:The Altai region is defined by the northern slopes of the Altai-Sayan Mountains, and it is situated at the junc-

tion of Kazakhstan, China, Russia and Mongolia (Figure 1). The Altaian Kazakhs occupy the remote mountainousdistricts of the northeastern part of this region. Historical accounts suggest that they are descendants of the great-er Kazakh tribal group, which was formed during 13th century in Kazakhstan. There are further references illumi-nating a geographical and ethnic subdivision of Kazakhs in the course of 15th-16th centuries, through which a num-ber of Kazakh Hordes (Orda) inhabited certain regions in northwestern China and western Mongolia (Golden 1998).Chinese and Mongolian Kazakhs later migrated from China and Western Mongolia into the Altai region, as they wereexpelled from their homelands during 19th century (Golden 1998). Nevertheless, they have continued to practicetheir traditional semi-nomadic life-style (Bokayeva 2001) and lived in relative isolation (Kimball 2001).

There are only a few historical and cultural accounts about Altaian Kazakhs. However, the larger Kazakh ethnicgroup is well studied. In the 13th century, Kazakhstan was inhabited by the Iranian Saka and Sarmatians, thetribes associated with Hun, Turks and Mongols (Golden 1998). The Kazakh ethnic identity was fashioned in thissocio-cultural environment during this period (Golden 1998, Soucek 2000). A common language marks their ethnicidentity, which is a distinctive Kipchak Turkic idiom (Soucek 2000, see also the edition by Paksoy 1994). However,Kazakhs were unable to form a unified Khanate like other tribes of Turkic speakers, and, as a result, they subdividedinto three major tribal confederations (Jüzs), greater (Ulu), Middle (Orta) and Lesser (Kishi), during 15th and 16thcenturies (Golden 1998, Soucek 2000). These subgroups also defined the geographical distribution of the Kazakhpeople. The greater Horde inhabited the eastern and southeastern Kazakhstan, the middle Horde primarily occu-pied central Kazakhstan, and the Lesser Horde lived in the western Kazakhstan (ibid.).

The Kerei tribe of the Middle Horde is thought to represent the ancestors of the Altaian Kazakhs. They firstmoved into northwestern China, Xingjiang, from central Kazakhstan in 18th century, and established a nomadicinhabitance area comprising Xingjiang and Western Mongolia (Kimball 2001). Under the pressure of Russian expan-sion in late 19th century, the Kazakh people in the region were divided and forced to move away from their home-lands. Certain segments of Chinese and Mongolian Kazakhs migrated into areas at the northern slopes of the Altai-Sayan Mountains.

Altaian Kazakhs constitute approximately 5% of about 200,000 people living in Altai region. They have main-tained a relatively isolated and traditional life-style for over a century. Many Kazakh families continue to move theirherds seasonally and live in traditional tents (Yurts) in summers (Kimball 2001). Yurts are used even among thesettled families as extra rooms. Horse riding remains the main means of transportation, particularly in remoteareas. Although, the majority of the Kazakh population in Altai region is Muslim, shamanistic practices still domi-nate the spiritual domain of the culture (Kimball 2001). These distinctive cultural patterns strongly suggest the eth-nic isolation of the Kazakh population in Altai region. Within the Altai Republic itself, Russians and indigenousAltaians make up the majority of the region’s population (Figure 2).

MITOCHONDRIAL DNA ANALYSISThe Altaian Kazakh and indigenous Altaian population samples were examined for mtDNA sequence variation by

through SNP analysis and direct sequencing. SNP analysis involved screening the samples for the diagnostic muta-tions of West Eurasian (H-K, N, R, T-X) (Torroni et al. 1994b, 1996, 1998; Macaulay et al. 1999) and East Eurasian(A-G, M, Y, Z) (Torroni et al. 1993b, 1994a; Schurr et al. 1999) haplogroups to determine the extent of geneticaffinities that these ethnic groups have with populations from Europe, West and Central Asia, and Siberia.Haplogroup assignments of these mtDNAs were performed through RFLP analysis of PCR amplified segments con-tained informative phylogenetic markers using following enzymes: +663 HaeIII (00663); -3007 Bsh1236I (03010);+4643 RsaI (04646); +4831 HaeII (04833); +4914 BfaI (04911); -5176 AluI (05178); +5301 BsmFI (05301); -7025 AluI (07028); -7598 HhaI (07600); +7933 MboI (07933); -8391 HaeIII (08391); +8409 SspI (08414);+10397 AluI (10400); +12308 HinfI (12308); +13263 AluI (13263); and +15907 RsaI (15907), as described else-where (Torroni et al. 1993b, 1994a; Schurr et al. 1999; Forster et al. 2001; Yao et al. 2002). The mtDNA datafrom Kazakh, Altaian and Siberian (Derenko et al. 2003) populations were used to generate genetic distances fromhaplogroup frequencies, and the distances used to construct phylogenetic trees with the Neighbor-joining method(Saitou and Nei 1987) available in PHYLIP 3.572c (Felsenstein 1998).

Figure 1. (A) Map of Eurasia indicating location of the Altai-Sayan region. (B) A close-up map of the Altai-Sayan region.

DISCUSSIONThis study has shown that Altaian Kazakhs possess a high diversity of mtDNA haplogroups compared

to most other populations of Central Eurasia. The majority of them belongs to West Eurasian lineages,with the most common one being haplogroup U. Even so, they exhibit a variety of East Eurasian mtDNAlineages, including the ubiquitous C and D in Siberia. Although subtle difference in haplogroup frequen-cies appeared in the Kosh-Agach and Cherny-Anuy samples, they were essentially the same in theirhaplogroup profile. This probably reflects the recent move of Kazakhs into the Altai-Sayan region, andthe lack of time for local populations to begin differentiating. Their relative closeness to the Altaian sam-ple of Derenko et al. (2003) might reflect a Mongolian influence on these two populations, or possibly thefact that the Altai-Sayan region is the Kazakhs’ place of origin. However, detailed sequence analysis ofthe Altaian Kazakh mtDNAs will be necessary to determine the extent of haplotype sharing with nativeAltaian, Mongolian and other Turkic speaking populations west of this region, hence, their genetic affini-ties with them. The screening of the markers defining subhaplogroups of U will also help trace connec-tions between ethnic populations in different regions of Siberia and Eurasia. Furthermore, given theunique history of the Altaian Kazakhs and their relative isolation from other ethnic populations in south-central Siberia, one might also expect to see evidence of reduced genetic variation from a bottleneck orfounder event. However, judging from their haplogroup diversity, it would appear that the AltaianKazakh have not undergone any significant bottleneck effect in expanding into the southern Altai Repub-lic.

There were also differences in haplogroup frequencies between the Altai-kizhi villages sampled.Mendur-Sokkon and Cherny Anuy had higher frequencies of haplogroups C, D, G and H, while Kosh-Agach had higher frequencies of F, N and U. These results suggest that genetic variation is geographical-ly patterned across the Altai Republic, although additional analysis of demographic data from these vil-lages will be necessary to confirm these trends. In addition, the analysis of Altai-kizhi HVS1 sequencesrevealed that they shared some haplotypes with Uralic speaking groups, such as Mansi and Udmurts(data not shown). These results are consistent with blood group marker data from indigenous Siberianpopulations, which suggested some links between Altai-kizhi and Uralic-speaking Nentsi (Posukh et al.1998).

Figure 2. A map showing the location of the Altai Republic and a chart indicating the ethnic composi-tion of this administrative region. To the right are ethnographic photographs of Kazakh people from the

Altai-Sayan region and adjacent territories

SAMPLE COLLECTIONFor this study, we are analyzing genetic variation in ~400 Altaian Kazakhs. Kazakh samples were collected by

L. Osipova in 1998-2000 in the rural mountainous region of the southern Altai Republic (Figure 4). The bloodswere fractionated after collection in local hospitals, and then transported to Institute of Cytology and Genetics,Novosibirsk for storage. Using an extensive genealogical database from these populations, we selected 177 per-sons who were maternally unrelated for at least 4-6 generations, and had no recent genetic admixture with Rus-sians or indigenous Altaians, hence, considering themselves to be native Kazakh. Of these persons, 49 came fromKosh-Agach and 128 came from Cherny-Anuy/Turata. In addition, data from several other populations from theAltai Republic are being analyzed in this project (Figure 4). These include 265 Altai-kizhi individuals from thesouthern Altai Republic, including 196 persons from the village of Mendur-Sokkon, 41 from Cherny Anuy/Turata,and 28 from Kosh-Agach, and 293 individuals living in the northern Altai Republic, including 112 Chalkans, 69Kumandins, and 94 Tubalars. For each set of samples, informed consent was obtained from individual participantsusing forms written in Russian and approved by the Institute of Cytology and Genetics (ICG). Genetic analysis ofthese samples was also conducted under approval of the Human Subjects Review Committee at the University ofPennsylvania.

Figure 4. A map of the Altai Republic showing the villages from which Altaian Kazakh and indigenous Altaian sampleswere obtained during field work from 1999-2003. The photograph on the left was taken in the southern Altai Republic.

Turochakskiy Raion

Cherny-Anuy

Kosh-Agach

Mendur-Sokkon

OBJECTIVES OF THE PROJECTThe primary goal of this project is to elucidate the genetic origins of indigenous populations living in the Altai-

Sayan region. These tribes speak closely related Turkic languages, and, for the most part, are descendants of theancient (non-Turkic) inhabitants of this mountainous area who mixed with various waves of Turkic speaking nomadsbeginning about 2,000 years ago. Initial genetic studies from Altaian populations have revealed considerablehaplotypic diversity in these groups, as well as affinities with both West Eurasian and East Asian populations.These findings are consistent with archeological data, which indicate that the Altai region has been occupied byhuman populations for the past 30,000-40,000 years, and experienced multiple expansions of differentethnolinguistic groups since this time. Another important objective is to clarify the population history of the AltaianKazakhs. These populations are descendants of the Karatei, Karei and Naiman populations of ethnic Kazakhs whobegan migrating from their ancestral lands near Mongolia at the end of the 19th century, when some nativeKazakhs were expelled from their homelands and moved to the Altai Mountains. During the 19th and 20th centu-ries, their population size increased to roughly 10,000 persons. Since this time, they have remained relatively iso-lated from other ethnic groups in the region, living mostly in the Kosh-Agachskiy district. The data obtained fromthe analysis of Altaian Kazakh diversity will further assist us in attempting to reconstruct the history and spread ofof Turkic speaking populations in Central Eurasia, which began in the first millennium AD.

RESULTSThe Altaian Kazakhs exhibited a wide variety of mtDNA haplotypes. Both East (A, B, C, D, F, G, M) and West

Eurasian (H, I , J, K, T, U, X) haplogroups were present at considerable frequencies in the two Kazakh populations(Figure 5, Table 1). The majority of Kazakh mtDNAs (~55%) belonged to West Eurasian haplogroups, with thesecoming predominantly from H, J and U. This distribution was consistent between the Kosh-Agach and Cherny-Anuysamples, although the frequency of specific East Eurasian haplogroups (e.g., C and D) varied in them. Each samplealso had a sizeable portion of “OTH” (Other) mtDNAs. However, once more fully characterized, these haplotypesare likely to belong to one of the West Eurasian haplogroups, which, in turn, will boost their overall frequency in thepopulation.

West Eurasian haplogroups have previously been shown to exist in Altaian populations at appreciable frequencies(Sukernik et al. 1996; Derenko et al. 2000, 2003; Schurr and Wallace 2003) (Table 1). This pattern of haplogroupdiversity also distinguished the Altaian Kazakhs from Kazakhstan Kazakhs and other ethnic groups inhabitingAltaian region. The latter groups, which include the southern Altai-kizhi and northern Altaians, have predominantlyEast Eurasian haplogroups (A, B, C, D, F, M, Z), as do the Kazakhstan Kazakhs (Bermisheva et al. 2004). Thesedata suggest that the Altaian Kazakhs have a population history distinct from that of related groups in this region ofCentral Eurasia.

Haplogroup C and D mtDNAs are quite frequent in the Altaian Kazakhs. However, a very small percentage oftheir haplotypes belonged to one of the other three haplogroups (A, B and X) that are considered to be among thefounding maternal lineages for Native Americans. In general, only indigenous Altaian populations possess all fivehaplogroups, and are, thus, unique relative to other Siberian populations. For this reason, it is unlikely that thesefive haplogroups were part of the founding gene pool for Altaian Kazakhs. They may have picked up one or more ofthese haplogroups during their movements from Kazakhstan and Mongolia into the Altai-Sayan region, or possiblyearlier through contact with expanding Mongols during the thirteenth century A.D. (Golden 1998; Janhunen 1996).

The diverse haplogroup distribution observed in the Altaian Kazakhs also occurs in neighboring populations(Table 1). While West Eurasian haplogroups appear in Siberian groups located east of the Altai-Sayan region, theygenerally do not occur at high frequencies nor in such variety as seen in the Altaian Kazakhs and indigenousAltaians. These neighboring Turkic and Mongolic speaking populations probably arose in the past few millenniathrough the interaction of ancient Eurasian and Asian populations in south-central Siberia. We estimated geneticdistances based on haplogroup frequencies for these populations, then generated a Neighbor-joining tree from thedata, to determine the associations between them (Figure 6). Interestingly, the Altaian Kazakhs grouped closer tothe Altaian sample of Derenko et al. (2003) than to our Altai-kizhi group, which was instead positioned between theKhakhassians and Mongolic-speaking Tuvinians. This branching pattern likely reflects the fact that the “Altaian”sample is comprised of multiple ethnic groups from the Altai region, including Altai-kizhi, northern Altaian, Teleut,Telenghit and Maimalar persons, whereas ours was comprised only of Altai-kizhi. In addition, the Tofalars, who rep-resent something of an isolate, were genetically closest to the Todjins, to whom they are also most geographicallyproximate, and also the related Tuvinians. Likewise, the Sojots showed a similar genetic and geographic closenessto the Buryats.

ACKNOWLEDGEMENTSThe authors would like to thank the Kazakh and native Altaian persons for their participation in this study, and themedical staffs of the local hospitals and medical facilties for this assistance with this project. This research wassupported by Russian Basic Science Fund to LP and by Faculty Research Funds from University of Pennsylvania toT.G.S.

Figure 3. A Map of Turkic speaking populations in Eurasia.

Table 1. Haplogroup Frequencies in Kazakh and Siberian Populations.

Note: The Kazakh and Altai-kizhi are data from this study, while the published data were taken fromDerenko et al (2003). In this table, the frequencies for haplogroups M* and Z, and those for haplogroupsG and G2, were combined. “ND” means “not yet determined”, or checked for the markers defining a par-ticular haplogroup.

Figure 6. Neighbor-joining Tree Based on Genetic Distances for Kazakh and Siberian Populations.The differences beween populations were estimated using Reynolds, Weir and Cockerham‘s (1983)genetic distance algorithm in PHYLIP 3.572c (Felsenstein 1998).

Altaians

Kazakhs

Buryats

Sojots

Altai-kizhi

Tuvinians

KhakhassiansTodjins

Tofalars

Figure 5. Haplogroup Frequencies in Populations in the Altai Republic

Kosh-AgachKazakhs

Kosh-AgachAltaians

ABCDFGHIJKTUVHVWXMOTH

Cherny-AnuyKazakhs

Cherny-AnuyAltaians

Mendur -SokkonAltaians

References cited in the text of the poster are available upon request.