Annals of Human Biology, 2010; Early Online: 1–23

ORIGINAL ARTICLE

mtDNA variation in the Buryat population of the BarguzinValley: New insights into the micro-evolutionary history ofthe Baikal area

M. GIBERT1, C. THEVES1, F. X. RICAUT1, I. DAMBUEVA2, B. BAZAROV3,P. MORAL4, E. CRUBEZY1, M. PERRUCHO1, M. FELIX-SANCHEZ1 &A. SEVIN1

1Laboratory AMIS, University of Toulouse/CNRS, Toulouse, France, 2Institute of General andExperimental Biology, Siberian Branch, Russian Academy of Sciences, Ulan Ude, Russian Federation,Buryatia, 3Institute of Mongolian, Buddhist and Tibetan Studies, Siberian Branch, Russian Academy ofSciences, Ulan Ude, Russian Federation, Buryatia, and 4Department of Animal Biology, University ofBarcelona, Barcelona, Spain

(Received 31 March 2009; accepted 12 October 2009)

AbstractBackground: Southern Siberian populations, including the Buryat, have been of great interest ininvestigating the exchanges between Eastern and Western Eurasia and understanding the peopling ofSiberia and the New World.Aim: Previous studies mainly employed a phylogenetic approach, and thus used pooled samples todetect a maximum of variability. As different sampling strategies may result in different pictures of apopulation’s evolutionary history, we proposed in this study to focus on a local Buryat populationselected on the basis of geographical, archaeological and ethno-historical data.Subjects and methods: This study investigated a local population from the Barguzin Valley, on the north-western shores of Lake Baikal identified as the most likely place of Buryat origin. We analysedmitochondrial DNA (mtDNA) RFLPs markers, HVS-I and HVS-II sequences to discuss the geneticvariability of this population, and to compare our local sample with pooled Buryat samples andneighbouring Siberian populations.Results: The Barguzin Buryat sample shows depressed neutrality scores compared to the pooled Buryatsample, and different genetic affinities with the Mongol and Turco-Evenk populations.Conclusion: These results underline the need to use local samples, in addition to pooled samples, toinvestigate the history of human populations at the micro-evolutionary level.

Keywords: North-western buryat, turkic–tungusic speakers, mongol, admixture, mitochondrial DNA

Correspondence: Morgane Gibert, Laboratoire AMIS, FRE N�2960, 37 allées Jules Guesde, 31000 Toulouse, France.E-mail: gibert@cict.fr

ISSN 0301-4460 print/ISSN 1464-5033 online � 2010 Informa UK Ltd.DOI: 10.3109/03014460903433828

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Introduction

Recently, Kong et al. (2003, 2006) and Derenko et al. (2007) refined the East and NorthernAsian mitochondrial DNA (mtDNA) tree encompassing complete DNA sequences. Thesestudies, respectively aimed to evaluate the pathogenicity of mtDNA mutations and toelucidate the human colonization processes of northern Asian and human dispersals tothe Americas. Their results supported complex demographic scenarios for the peopling ofSouthern Siberia. Derenko et al. (2007) showed the highest variation and a co-existence ofdifferent genetic lineages in south-western Asia and the Altai Sayan region in southernSiberia. Two contrasting explanations have been put forward to explain such a pattern: theseregions may represent an early incubator of Eurasian genetic variation before a subsequentsplit towards the west and east continent, or perhaps places where western and easternEurasian genetic components mixed (Chaix et al. 2008).

Regional differences in the influx of west Eurasian mtDNA were recognized by Derenkoet al. (2003). Aboriginal populations of Southern Siberia revealed around 80% of East Asian(M*, M7, M8, M9, M10, C, D, G, Z, A, B, F, N9a, Y) and less than 20% of West Eurasian(H, U, J, T, I, N1a, X) matrilineal genetic component but with the highest value inpopulations from the East Sayan, and Altai regions and notably lower values in populationsfrom the Baikal region (Derenko et al. 2003). According to Derenko et al. (2003, 2007), thispattern has resulted from various migrations from diverse geographical sources at differenttimes, beginning with the early human settlements in the Palaeolithic era and still occurringthrough recent migration events. In particular, the southern Siberian region is characterizedby the traces of a northward expansion into subarctic and arctic regions that occurred afterthe last glacial maximum (LGM).

In addition, Starikovskaya et al. (2005) showed that many mtDNA haplotypes found inSiberia are shared among cultural and linguistically distinct populations. This commonfeature has been interpreted as the trace of an extensive gene flow occurring from the UralMountains to the Pacific Ocean, and from Mongolia/Manchuria/South-eastern Siberia(former Greater Manchuria) to the upper Arctic, since the early Holocene.

Among the Siberian populations, the Buryat have been particularly studied due to theirsignificance in understanding the Northward expansion of the Yakut (Pakendorf et al.2003, 2006). Indeed, archaeological and ethno-historical data suggest that the Yakut andBuryat stemmed from a common ancestral population residing near Lake Baikal. TheBuryat and Yakut are thought to be descended from Turkic-speaking Kurykans, knownfrom historical sources, and runic inscriptions from the first millennium AD (Okladnikov1955). It has been postulated that a Kurykan group migrated to the north, along the Lenariver after the arrival of the Mongols in the 11th–13th century AD, while another groupremained on the shores of the Baikal Lake; the former admixed with the indigenouspopulations of Yakutia to give birth to the Yakut (Alekseev 1996) while the latter mixedwith the Mongols forming the Buryat. In their study, Pakendorf et al. (2003) observed somehaplotypes exclusively shared by the Yakut and the Buryat. However, the Buryat groupmore closely with the other steppe populations while the Yakut present a high mtDNA genepool of Evenk origin

In all these studies, the Buryat were considered part of the southern Siberian popula-tions. The sampling strategy used consisted of pooling individuals from a maximum ofplaces in order to cover the genetic variability of the population. No study has been doneon local populations to investigate the complex micro-evolution of the Buryat population.Recently, many studies have discussed the effect of sampling strategies on the recon-struction of evolutionary history at the population level (Ptak and Przeworski 2002;

2 M. Gibert et al.

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Hammer et al. 2003; Phillips-Krawczak et al. 2006) and in statistical analysis (Ray et al.2003; Städler et al. 2009). For this reason, we investigated a local and well-definedBuryat sample in addition to the previous pooled samples. Our goals in this paper were:first to sample a local Buryat population for which a continuity in organization andsettlement could be attested by ethno-historical records; secondly, to genetically char-acterize this population by using mtDNA RFLP, and HVS-I and HVS-II data; thirdly, tocompare our results with previous data on the Buryat, and surrounding populations;lastly, to discuss the interest of a local population survey for understanding the history ofpopulations from the Baikal area.

Material and methods

Study design and sampling

The Buryat, the largest ethnic minority in Siberian Russia, belong to the Central Asianbranch of the North Asian Mongol nations (Minahan 2002). They are mainly concentratedin the Buryat Republic, an autonomous republic in the South-Central region of Siberia alongthe eastern shore of Lake Baikal (Figure 1).

The Buryat population may be sub-divided into four major tribes according to archae-ological data (see Konovalov’s map reported in Gibert et al. 2006) or ethnological data(Hamayon 1990): Bulagat, Khori, Ekhirit, Khongodor (Figure 2). The Ekhirit and theBulagat, originally located on the north-western Shore of the Lake Baikal, are thought to bethe indigenous core of the Buryat population (Hamayon 1990). We thus decided to study alocal population originating from the north-western Baikal area, and for which a mostlyEkhirit-Bulagat component may be ascertained.

In this way, the Barguzin Valley was interesting because it is a remote mountainous andforested area, with well documented recent peopling (Humphrey 1998). It was not until acensus in 1783, that Buryat were found to be re-populating Barguzin (Figure 2), mainlyfrom migrations by the Ekhirit–Bulagat tribes (Humphrey 1998). Indeed, at that time,Russian colonists occupied the tribal lands, forcing the tribes west of Lake Baikal to abandontheir lands in the 18th century AD, and to migrate to the Selenga and Barguzin Valleys, eastof the Lake Baikal (Minahan 2002).

We analysed historical and ethnological records on one hand, and administrative regis-trants and interviews on the other hand, to investigate the population continuity in the upperdistrict of Barguzin Valley. According to the administrative registrants, inter-marriagesbetween the Buryat and Evenk or Russians seemed to be exceptional. From 1936 to 1957,70 marriages were registered with 69 between Buryat, and one between a Buryat and aRussian. Of the 61 individuals of Barguzin origin studied, 41 individuals were able tomention their clan, and the clan of their grandparents. Ninety-two per cent (n = 38) wereaffiliated to one of the five clans (Bajandaj, Sono, Abazaj, Galzuud and Hengelder) reportedin ethno-historical record to have occupied the Barguzin Valley since the 18th–19th centuryAD (Hamayon 1990). Thus, we can consider with a high level of confidence that our sampleis representative of descendants of the Buryat living in the Barguzin Valley at the end of the19th century AD.

Population samples

The sample consisted of buccal cells, and peripheral blood samples collected from 61individuals who were unrelated and together represented almost all the Native Buryat in the

mtDNA variation in the Barguzin Buryat population 3

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studied region. The sampling area included the village of Ulunkhan and neighbouringhamlets, located in the upper district of the Barguzin Valley (Figures 1 and 2). Informationon surveyed subjects included their language, current residence, familial birthplaces, and ashort genealogy (three generations), to establish regional ancestry. The biological sampleswere obtained with informed consent. Fifteen Evenk living in the same area, were alsoanalysed, and added to previous published data for comparison.

In order to place the genetic variability of the population analysed here in a broaderSiberian perspective, mtDNA HVS-I population data were taken from the literature forcomparison (Figure 1 and Table I). All Buryat populations were included in the analysis,and other Siberian samples were considered as a single ethnic group if they did not presentany significant difference according to the exact test of differentiation among samples (exact

Figure 2. Map showing the geographical distribution of the four major Buryat ethnic groups (Ekhirit, Bulagat,Khongodor, Khori); modified after ‘Buryat peopling area’ map in Hamayon (1990).

Figure 1. Map of Siberia showing the approximate locations of the populations analysed in this study. Thereferences and description of the populations are reported in Table I.

4 M. Gibert et al.

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253254255256257258259260261262263

Table I. Sample sizes and references of populations used for HVS-I mtDNA analyses (from nucleotide position(np) 16024–16380).

Populations n References Geographic locations Language*

Buryat 1 61 Present study Upper district of the Barguzin Valley MongolicBuryat 2 25 Starikovskaya et al. 2005 Residents of the Kushun village,

Irkutsk Region, representatives of theBuryat of the western Baikal Upland

Mongolic

Buryat 3 552 Total Mongolica 40 Derenko et al. 2000 Regions encompassing all territories

inhabited by modern Buryatsb 126 Pakendorf et al. 2003 Hospital and residents in Ulan-Ude,

the samples thus reflect a relativelyrandom sampling across the BuryatRepublic

c 91 Derenko et al. 2003 Samples collected in the villages ofseven districts of Buryat Republic,thus encompassing all territoriesinhabited by the modern Buryats.

d: Buryat 3¢ 295 Derenko et al. 2007 Samples from Buryat RepublicAltaian 241

4111090

Total

Derenko et al. 2002Derenko et al. 2003Derenko et al. 2007

Inhabitants of different regionsof the Altai Republic

Turkic

Evenk 180

1547118

Total

Present studyKong et al. 2006Derenko et al. 2007

Inhabitants of different westernregions of Siberian

Tungusic

Kalmyk 110 Derenko et al. 2007 Kalmyks from Kalmyk Republic MongolicKazakh 107

5552

Total

Comas et al. 1998Yao et al. 2004

Southern Kazakhstan and XinjiangProvince

Turkic

Khakass 110

5357

Total

Derenko et al. 2003Derenko et al. 2007

Different districts of the KhakassRepublic

Turkic

Khamnigan 99 Derenko et al. 2007 Khamnigan from Buryat Republic Mongolic†Kyrgyz 94 Comas et al. 1998 Kyrgyz from Talas and Sary-Tash,

KyrgyzstanTurkic

Mongol 37810322847

TotalKolman et al. 1996Keyser-Tracqui et al. 2006Derenko et al. 2007

Mongols representing whole Mongolia Mongolic

Russian 153

10350

Total

Orekhov et al. 1999†Malyarchuk and Derenko2001

Different regions of the European partof Russia†Available in HVR database

Slavic

Shor 82 Derenko et al. 2007 From the Kemerovo region TurkicSojot 30 Derenko et al. 2003 Tunka and Okinsk districts of Buryat

RepublicTurkic

Telengit 71 Derenko et al. 2007 Two districts of the Altai Republic(Southern Altaian)

Turkic

mtDNA variation in the Barguzin Buryat population 5

TAHB_A_443734.3d Monday, 25th January 2010 10:24:09

p value = 1.0 for global test of differentiation among samples, and for differentiation testbetween all pairs of samples; Raymond and Rousset 1995; Goudet et al. 1996).

A total of 3502 mtDNA HVS-I sequences, from nucleotide position (np) 16024 to np16380, were used for inter-population comparison (see Table I). All mtDNA sequenceswere aligned using ClustalW (Thompson et al. 1994). The heteroplasmic sites were treatedas missing data in all the analyses.

Sequencing and RFLP typing

mtDNA analyses were performed on hypervariable region 1 and 2 (HVS-I and HVS-II) ofthe mtDNA control region. Moreover, screening of 15 RFLPs was performed to confirmhaplogroup affiliation of the mtDNA sequences based on HVS-I and HVS-II polymorphicsites as described by Torroni et al. (1993, 1996) to identify haplogroups B, C, D, G,and Derenko et al. (2000) for haplogroups M, N, R, F. Amplification products werevisualized on a 3% NuSieve–agarose (2:1) gels.

Analysis of the HVS-I region was performed for all samples with primers L15996 andH16410 (Gabriel et al. 2001), and PCR conditions as described elsewhere (Keyser-Tracquiet al. 2006). Analysis of the HVS-II region was performed for all samples with primers L29and H408 (Vigilant et al. 1989). PCR conditions for this reaction was: Pre-denaturation,94�C for 10 min; 35 annealing cycles at 94�C for 45 s, 53�C for 1 min and 72�C for 1 min;and final extension, 72�C for 7 min (Redd et al. 1995).

Table I (Continued)

Populations n References Geographic locations Language*

Teleut 53 Derenko et al. 2007 South of the Altai Republic(Southern Altaian)

Turkic

Todjin 48 Derenko et al. 2003 Todja district of the Tuva Republic TurkicTubular 72 Starikovskaya et al. 2005 Different districts of the Altai Republic

(Northern Altaian)Turkic

Tuvinian 370

909659125

Total

Derenko et al. 2003Starikovskaya et al. 2005Pakendorf et al. 2006Derenko et al. 2007

Collected across the Tuva Republic(Eastern Tuvinian)

Turkic

Uighur 92

4547

Total

Yao and Zhang 2002Yao et al. 2004

From Xinjiang Province and fromKazakhstan

Turkic

Uzbek 78

2058

Total

Comas et al. 1998Yao et al. 2004

From Uzbekistan and from XinjiangProvince

Turkic

Yakut 496

8319444175

Total

Puzyrev et al. 2003Fedorova et al. 2003Keyser-Tracqui et al. 2006Pakendorf et al. 2006

Different regions of the RepublicSakha (Yakutia)

Turkic

*Language classification according to the Ethnologue website (http://www.ethnologue.com/).†Specified in Derenko et al. (2007).

6 M. Gibert et al.

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Amplification products from HVS-I and HVS-II region were visualized on a 1.5% agarosegel (Sigma-Aldrich, St-Louis, MO, USA), and purified with QIAquick Kit (Qiagen, GmbH,Hilden, Germany). Sequence reactions were performed on each strand with the sameprimers as those employed for PCR amplification by ABI Prism BigDye Terminator CycleSequencing Kit (PE Applied Biosystems, CA, USA) according to the manufacturer’sspecifications. The sequence reaction products were analysed on an ABI Prism 310 GeneticAnalyser (Applied Biosystems), and using the Sequencing Analysis 3.7 Software (AppliedBiosystems).

All deviations from the revised Cambridge Reference Sequence (rCRS) wereconfirmed by manual checking of their electropherograms. Moreover, we checked ifall the sequence variations obtained were previously reported (http://www.mitomap.org/),and if the haplogroup and sub-haplogroup motif was fully represented, otherwise therelevant positions in the sequence were rechecked.

Data analysis

The software MEGA ver. 4.0.1 (Tamura et al. 2007) was used to visualize the segregatingsites of the mtDNA sequences. RFLPs data (Appendix I), and HVS-I and HVS-II sequenceswere used to infer the sequence classification into mtDNA haplogroups according to theaccepted nomenclature, Kong et al. (2006) and Derenko et al. (2007). A network of the 61Buryat sequences was manually reconstructed, and verified by use of the median-joiningalgorithm with Network, version 4.5.1.0 (Free Phylogenetic Network Software, Bandeltet al. 1999). For phylogeny reconstruction, the length variation in poly-C stretches atnucleotides 16180–16193, and 309–315 were not used. The Arlequin package was used todetermine haplotype frequencies in the population.

The number of publications including HVS-I, HVS-II sequences and RFLPs data is stilllimited but this situation has clearly changed in recent years, and particularly for the Buryatand Siberian populations with the last publication of Derenko et al. (2007). We thuschecked our sequences with the database provided in online supplementary databy Derenko et al. (2007). This database included 295 sequences from a pooled Buryatsample, and a total of 1432 mtDNA samples. As for the phylogeny reconstruction, thelength variation in poly-C stretches at nucleotides 16180–16193 and 309–315 were notused (Appendix I).

Gene diversity, nucleotide diversity, and the three estimators of q were calculated for theHVS-I sequence (nucleotide position (np) 16024–16380) data in Buryat populations andthe comparative population data set by using the Arlequin package (Table I). The demo-graphic history of our, and other Buryat and Siberian populations, was examined using fourstatistical tests classified into three major classes (I, II and III), as defined by Ramos-Onsinsand Rozas (2002), and by using DNASP software (Librado and Rosas 2009) and Arlequinver. 2.000 (Schneider et al. 2000). Class I tests are based on the distribution of the mutationfrequencies, and were represented by the D test of Tajima (1989), and the R2 statistic(Ramos-Onsins and Rozas 2002). Lower values of R2 and significant negative Tajima’s Dvalues were taken as evidence of population expansion. Class II tests used information fromthe haplotype distribution, and were represented by the Fu’s Fs test statistic (Fu 1997).Significantly large negative Fu’s Fs values were taken as evidence of population expansion.Class III tests are based on mismatch distribution (distribution of the pairwise sequencedifferences), and were represented by Harpending’s raggedness statistic (Harpending et al.1993), and the graphical representation of the mismatch distribution. A population with a

mtDNA variation in the Barguzin Buryat population 7

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constant size in the past has a multimodal mismatch distribution, while a population that hasundergone expansion shows a unimodal distribution (Rogers and Harpending 1992), andlower raggedness values are expected under the population growth model. These indexeswere used to test if neutrality holds (i.e. the population under study evolves with a constanteffective population size (unstructured populations), all mutations being selectively neutral(neutral equilibrium model). The significance of Tajima’s D, R2, Fu’s Fs and raggednessstatistic, were obtained by examining the null distribution of 5000 coalescent simulations ofthese statistics using DNASP.

Pairwise Fst values between populations (Table I), and the significance of Fst values,(tested with 10 000 permutations) were calculated with mtDNA HVS-I sequences (np16024–16380), using the program Arlequin ver. 2.000 (Schneider et al. 2000). TheStatBoxPro 5.0 software (GrimmerSoft, Neuilly-sur-Seine, France) was used to performmultidimensional scaling (MDS) of the pairwise Fst values.

Program Admix 2.0 (Dupanloup and Bertorelle 2001) was used to calculate the admixtureproportions in our local sample and the pooled Buryat sample (Buryat 3) on the basis ofHVS-I sequences. Bootstrap coefficients, and standard errors (SEs) were obtained usingthe procedure described in Bertorelle and Excoffier (1998). As putative parental popula-tions, we used three datasets of Evenk, Tuvinian and Mongol to represent the Tungusic,Turkic and Mongol populations supposed to have contributed to the Buryat genetic pool(Minahan 2002).

Inter-population analysis was also carried out on the basis of haplogroup frequencies.Haplogroup frequency analysis, and HVS-I sequence analysis provided similar globalpatterns of differentiation between our sample, and other Buryat and Siberian samples.HVS-I ‘sequences analyses’ allowed us to compare more populations (21 against 17), anddisplayed a more significant pattern of differentiation between these populations. Thus, onlythe results of HVS-I analyses (Fst, pFSt, MDS and admixture) are presented here. Resultsobtained for haplogroup frequencies are available on request.

Results

mtDNA sequences

The complete RFLP data, and HVS-I/HVS-II sequence data of the 61 Buryat from theBarguzin Valley are reported in Table II. HVS-II sequencing did not succeed in twoindividuals. Thirty-three sequence types were identified, representing 40 transitions, fivetransversions, one insertion. However, haplotype H02 lacking HVS-II should be consideredas potentially the same as haplotype H08 or H09. Sequences H05a and H05b could be puttogether if we do not consider the length variation polymorphisms in poly-C stretches atnucleotides 309–315. Thus it seems better to consider a minimum number of 30 haplotypes.At least 17 sequence types occurred in single individuals (private lineages), 19 if sequencesH02 and H09 are distinct.

Figure 3 displays the network of the Barguzin Buryat mtDNA sequence data. Themajority (98.3%) of the Buryat sequences can be classified as belonging to an Asianhaplogroup: M13 (n = 2); B (n = 3); C (n = 27), D (n = 22), F (n = 1), G (n = 4), N(n = 1). One sequence (H37) belongs to the European haplogroup HV. The two mostfrequent types were detected in seven and six individuals (H05 and H12). For the mostrepresented haplogroups, C and D, no clear star-like genealogies appeared.

Seven sequences were not previously described either in the pooled Buryat or in othersamples available in the database of Derenko et al. (2007), each of them being represented by

8 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:09

443444445446447448449450451452453454455456457458459460461462463464465466467468469470471472473474475476477478479480481482483484485486487488489490491

Tab

leII.mtD

NAsequ

encesan

dRFLPsda

tain

Buryata

ndEvenk

samples

from

theBargu

zinValley(n,n

umbe

rof

subjects;n

d,no

n-de

term

ined

sequ

ences).O

nlyvariab

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sition

saregiven.

Positions

arenu

mbe

redacco

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theRevised

Cam

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Referen

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e(C

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999).T

henu

cleo

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position

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encesco

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ndto

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sition

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sversion

sarefurthe

rspecified

.The

presen

ceof

insertions

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letion

sis

referred

by‘in

s’an

d‘del’,respectively,follo

wingthe

nucleo

tide

position

.Hap

logrou

ps(H

G)werede

fine

dacco

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Kon

get

al.(200

6)an

dDeren

koet

al.(200

7).

Seq

.ref.

AluI10397

DdeI10394

MnlI10871

9bpdel

HincII13259

AluI5176

HaeII4830

HhaI4831

HhaI7598

HpaI1240

MboI7933

HaeIII8391

MboII12696

HpaI12406

HVS-I

(160

24-163

90;minus

1600

0)HVS-II

(44-39

0)Buryat,

nEvenk

,n

HG

H01

++

–14

514

818

818

922

338

173

15226

331

5.1C

2M

13a

H02

++

––

22329

832

7nd

1C

H03

++

––

9322

329

832

773

249d

el26

331

5.1C

1H04

++

––

12922

329

832

773

19526

331

5.1C

1H05

a+

+–

–93

12922

329

832

773

19524

9del

26330

9.1.2C

315.1C

2C4a

1H05

b+

+–

–93

12922

329

832

773

19524

9del

26330

9.1C

315.1C

52

H06

++

––

17122

329

832

734

435

773

249d

el26

331

5.1C

2C4a

2H07

++

––

17122

324

429

832

734

435

747

7324

9del

26331

5.1C

2H08

++

––

22329

832

773

14624

9del

26330

9.1.2C

315.1C

2C4b

1H09

++

––

22329

832

773

14624

9del

26326

430

9.1.2C

315.1C

1H10

++

––

22327

029

832

773

14624

9del

26331

5.1C

2H11

++

––

22325

9insA

29832

773

14624

9del

26330

9.1C

315.1C

1C4b

1aH12

++

––

14822

328

829

832

773

249d

el26

330

9.1.2C

315.1C

6C5

H13

++

––

9322

326

128

829

857

7324

9del

26331

5.1C

1C5a

H14

++

–+

22336

273

26330

9.1C

315.1C

12

DH15

++

–+

22331

136

273

26330

9.1C

315.1C

23

H16

++

–+

12922

336

2nd

1H17

++

–+

17422

336

273

26330

9.1C

315.1C

3H18

++

–+

22327

436

273

15226

330

9.1.2C

315.1C

1H19

++

–+

22327

436

273

26329

830

9.1C

315.1C

1H20

++

–+

15622

424

529

236

273

26331

5.1C

1H21

++

–+

8615

022

327

436

273

26331

5.1C

1H22

++

–+

12917

322

331

936

273

18326

330

9.1C

315.1C

5D4b

1H23

++

–+

12916

6C17

322

331

973

18326

330

9.1C

315.1C

1H24

++

–+

22324

536

273

26330

9.1C

315.1C

4D4c

H25

++

–+

22324

536

236

873

26331

5.1C

1H26

++

–+

+–

22322

727

427

836

273

26315

231

5.1C

3G2

mtDNA variation in the Barguzin Buryat population 9

TAHB_A_443734.3d Monday, 25th January 2010 10:24:10

Tab

leII

(Contin

ued)

Seq

.ref.

AluI10397

DdeI10394

MnlI10871

9bpdel

HincII13259

AluI5176

HaeII4830

HhaI4831

HhaI7598

HpaI1240

MboI7933

HaeIII8391

MboII12696

HpaI12406

HVS-I

(160

24-163

90;minus

1600

0)HVS-II

(44-39

0)Buryat,

nEvenk

,n

HG

H27

++

–+

+–

9322

327

436

239

073

26331

5.1C

1G3

H28

––

+12

922

325

7A73

15026

330

9.1.2C

315.1C

1N9a

3H29

––

++

17231

126

330

9.1C

315.1C

1HV

H30

––

++

8613

618

3C18

921

773

14620

726

330

9.1C

315.1C

2B4b

1H31

––

++

11114

018

2C18

3C18

923

424

373

’9310

313

119

920

426

330

9.1C

315.1C

1B5b

2H32

––

+–

182C

183C

18923

2A24

930

473

15015

224

9del

26330

9.1.2C

315.1C

1F1b

H33

++

–08

629

7C32

4C73

15219

926

331

5.1C

1M

H34

++

––

12922

329

832

773

19524

9del

26329

331

5.1C

1C4a

1H8b

++

––

22329

832

773

14624

9del

26330

9.1C

315.1C

1C4b

1H35

++

––

22329

832

773

14626

330

9.1C

315.1C

1H36

++

–+

9322

323

226

129

036

273

15019

526

330

9.1C

315.1C

1D4o

2H37

––

++

–12

618

923

126

673

14626

331

5.1C

2Y1b

10 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:11

only one individual in our sample from Barguzin (Appendix I): Sequences H04 (haplogroupC), H20 (haplogroup D), H21 (haplogroup D) and H22 (haplogroup D), H25 (haplogroupD), H28 (subhaplogroup N9a3), H31 (subhaplogroup B5b2). The sequence H04 has beendetected but without the loss of the deletion at position 249 in HVS-II, in 3 Buryat (n = 295),1 Mongol (n = 47), 1 Kalmyk (n = 110) and 1 Khamnigan (n = 99). The sequence H20 has

Figure 3. Phylogenetic network of the mtDNA sequences revealed in the 61 Buryat from the Barguzin Valley.Circles are drawn proportional to population frequency. Links are labelled by the nucleotide positions in HVS-I(minus 16000 = ‘+’) and HVS-II to designate transitions; transversions are further specified. Insertion is designatedas ‘i’. HVS-I and HVS-II mutations and RFLPs variants are shown indicating nucleotide positions relative to thereviewed rCRS (Andrews et al. 1999). To ease the reading of the network, length branches are not alwaysproportional to the number of mutations but each mutational step is specified by a line. The nucleotide positions16180–16193 and 309–315 were not used for the phylogenetic reconstruction as in Derenko et al. (2007). Themutation at nucleotide position 16189 is shown in italic and in brackets when it has been used as a diagnosticposition according to the phylogenetic trees of Kong et al. (2006) or Derenko et al. (2007).

mtDNA variation in the Barguzin Buryat population 11

TAHB_A_443734.3d Monday, 25th January 2010 10:24:11

547548549550551

been detected in one Mongol but with the mutation 215 and 16156, respectively, in HVS-IIand HVS-I. Sequence H21 is characterized by mutations 16086 and 16150 in addition to themotif 16223–16274–16362 in HVS-I. It is noteworthy that sequence H22 differed inmutations 16666C and 16 362 with H23 which is currently the closest sequence in ourpopulation, and in the database. This latter sequence is also the most represented in oursample, and is detected in 10 Buryat and 3 Khamnigans in the database. The sequence H25was detected in two Buryat but with a mutation at position 385 in HVS-II. The sequenceH28 was detected in three Buryat and one Kalmyk but with an additional mutation atposition 16261 in HVS-I. Four individuals (one Persian, one Mongol, two Khamnigan) inthe database shared the H31 HVS-I sequence, but at least with two distinct mutations inHVS-II.

Four sequence types were detected only in the Buryat samples. The sequences wererespectively found in our sample and in the database (Derenko et al. 2007) in one and twoindividuals for sequence H13; two and one individuals for H6; two and three individuals forH10, and four and four individuals for H24. These sequences may be characteristic of theBuryat, in particular the latter. Further data are needed to confirm this result, as the Buryatare more represented in the database with 295 DNA samples.

Sequence diversity and neutrality test

Values of HVS-I sequence diversity, and Class I, II and III statistics are summarizedin Table III for the Buryat, and other Central Asian and Siberian populations.

The gene diversity (H: 0.961) observed in our local sample is significantly lower than inthe pooled sample Buryat 3 (0.991). In central Asia and Siberia, this value is comparableto the gene diversity observed in the Yakut (0.963), the Todjin (0.971), the Evenk (0.972)and the Tuvinian (0.973). It is higher than the values observed in the western Buryat (Buryat2: 0.940) and the Sojot, however, not significantly due to the high standard deviation valuesobserved in those two populations (SE > 0.020).

The three q estimators are lower in our local Buryat sample from Barguzin than in thepooled sample (Buryat 3). It is interesting to note that the values observed for qP for thethree Buryat populations are close (Buryat 1: 5.70; Buryat 2: 5.65 and Buryat 3: 6.08).The qP estimator tends to reflect the harmonic mean of the female effective population size(Nfe) over long periods of time (Helgason et al. 2000), and thus the common pastdemographic history of the three samples. In contrast, a comparison of qs values basedon the number of segregating sites, and qk values based on the observed number of differentlineages, distinguished the pooled sample (Buryat 3) from the present study and Buryat 2samples (statistically significant for qs). It indicates distinct female effective-population sizeduring recent demographic history, with a relatively small Nfe in Buryat 1 and 2.

The neutrality test also showed distinct demographic patterns. All the parametersindicated a demographic expansion in the pooled Buryat sample, with all parametersrejecting the hypothesis of a constant size. This pattern contrasts with the present studyand Buryat 2 samples, for which two of the three parameters did not reject the hypothesis of aconstant size (p > 0.05), which was supported by the multimodal mismatch distributions (notshown), and the high raggedness values (0.045 and 0.080 with p < 0.05).

It is noteworthy that the values (genetic diversity and neutrality tests) observed for theBuryat 3 sample could not be attributed to our pooling (Pakendorf et al. 2003; Derenko et al.2000, 2003, 2007). Indeed, these values are similar to those reported for HVS-IBuryat sequences in each publication, for example in Derenko et al. (2007): H: 0.990;Tajima’s D: –2.00 and Fu’s Fs: –24.71.

12 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:13

Tab

leIII.

HVS-I

sequ

ence

diversityan

dde

mog

raph

icpa

rametersforBuryat,Cen

tral

Asian

andSiberianpo

pulation

s(from

np16

024to

1638

0).

Pop

ulation

nH(SE)

qP(SD)

qs(SD)

qk(SD)

Nuc

leotide

diversity(SD)

Tajim

a’sD

(p)

R2

Fu’sFs(p)

Raggedn

ess(p)

Buryat1

610.96

1(0.010

)5.70

(2.77)

9.62

(2.88)

21.03(12.6–

34.8)

0.01

6(0.009

)–1.37

(0.062

)0.06

0(0.066

)–10

.77(0.001

)0.04

5(0.019

)Buryat2

250.94

0(0.026

)5.65

(2.80)

8.47

(3.05)

12.33(5.8–26

.3)

0.01

6(0.009

)–1.25

(0.092

)0.07

5(0.033

)–2.81

(0.118

)0.08

0(0.004

)Buryat3

552

0.99

1(0.001

)6.08

(2.90)

18.87(3.81)

166.74

(139

.4–19

9.2)

0.01

7(0.009

)–1.99

(0.001

)0.02

2(0.009

)–24

.42(0)

0.00

7(0.764

)Altaian

243

0.98

3(0.002

)6.53

(3.10)

13.34(3.11)

39.37(29.5–

52.2)

0.01

8(0.010

)–1.54

(0.027

)0.03

8(0.037

)–24

.66(0)

0.00

9(0.303

)Evenk

180

0.97

2(0.004

)6.18

(2.95)

11.62(2.87)

33.04(23.8–

45.5)

0.01

7(0.009

)–1.45

(0.040

)0.04

5(0.059

)–24

.90(0)

0.00

9(0.570

)Kalmyk

110

0.99

6(0.002

)6.57

(3.13)

15.17(3.94)

244.74

(154

.3–39

8.7)

0.01

8(0.010

)–1.85

(0.006

)0.03

6(0.006

)–25

.02(0)

0.00

8(0.629

)Kazakh

134

0.99

3(0.003

)6.24

(2.98)

16.08(4.02)

169.78

(116

.7–25

0.0)

0.01

7(0.009

)–1.96

(0.003

)0.03

4(0.010

)–25

.01(0)

0.00

6(0.789

)Kha

kass

110

0.97

9(0.004

)6.61

(3.14)

12.71(3.35)

41.32(28.1–

60.5)

0.01

8(0.010

)–1.54

(0.031

)0.04

7(0.040

)–24

.98(0)

0.00

8(0.587

)Kha

mnigan

990.99

0(0.004

)6.37

(3.05)

15.09(3.99)

110.96

(72–

6–17

1.8)

0.01

8(0.009

)–1.89

(0.006

)0.03

7(0.007

)–25

.09(0)

0.00

7(0.792

)Kyrgyz

940.99

0(0.004

)6.28

(3.01)

15.25(4.06)

122.66

(78.7–

194.5)

0.01

8(0.009

)–1.93

(0.006

)0.03

6(0.006

)–25

.12(0)

0.00

8(0.756

)M

ongo

l37

80.99

6(0.001

)7.08

(3.33)

19.20(4.07)

290.84

(231

.7–36

6.7)

0.02

0(0.010

)–1.89

(0.002

)0.02

6(0.008

)–24

.36(0.001

)0.00

8(0.490

)Russian

153

0.97

5(0.007

)4.31

(2.14)

12.13(3.06)

112.89

(81.1–

157.8)

0.01

2(0.007

)–2.01

(0.002

)0.02

9(0.006

)–25

.61(0)

0.01

1(0.762

)Sho

r82

0.85

0(0.035

)6.76

(3.22)

9.64

(2.75)

14.58(9.0–23

.2)

0.01

9(0.010

)–0.98

(0.167

)0.06

7(0.161

)–5.88

(0.068

)0.04

5(0.009

)Sojot

300.92

9(0.023

)5.19

(2.58)

8.33

(2.98)

11.27(5.6–22

.6)

0.01

5(0.008

)–1.47

(0.054

)0.06

7(0.029

)–2.52

(0.155

)0.01

7(0.630

)Telen

git

710.98

6(0.005

)7.05

(3.35)

15.31(4.27)

73.87(45.3–

122.5)

0.02

0(0.010

)–1.84

(0.010

)0.04

2(0.009

)–25

.03(0)

0.00

6(0.814

)Teleu

t53

0.98

0(0.007

)6.29

(3.03)

10.80(3.28)

36.38(21.2–

63.0)

0.01

8(0.009

)–1.45

(0.050

)0.05

9(0.042

)–19

.06(0)

0.02

9(0.003

)Tod

jin48

0.97

1(0.010

)5.70

(2.78)

9.69

(3.03)

24.70(14.1–

43.5)

0.01

6(0.009

)–1.42

(0.057

)0.06

1(0.060

)–12

.43(0.001

)0.00

7(0.930

)Tub

ular

720.94

2(0.011

)6.05

(2.92)

10.73(3.09)

13.15(7.9–21

.5)

0.01

7(0.009

)–1.46

(0.045

)0.05

5(0.048

)–5.45

(0.066

)0.02

8(0.051

)Tuv

inian

350

0.97

3(0.003

)6.04

(2.89)

14.14(3.12)

57.47(45.2–

72.8)

0.01

7(0.009

)–1.70

(0.011

)0.03

1(0.015

)–24

.63(0)

0.00

5(0.877

)Uighu

r92

0.98

5(0.003

)6.25

(6.00)

11.58(3.18)

32.46(21.3–

49.2)

0.01

7(0.009

)–1.50

(0.034

)0.05

3(0.058

)–23

.91(0)

0.00

8(0.648

)Uzbek

780.99

5(0.004

)6.56

(3.13)

15.83(4.33)

249.78

(138

.2–47

4.4)

0.01

8(0.010

)–1.96

(0.004

)0.03

8(0.004

)–25

.10(0)

0.00

7(0.804

)Yakut

496

0.96

3(0.003

)6.35

(3.01)

11.94(2.57)

44.13(35.1–

55.3)

0.01

8(0.009

)–1.35

(0.047

)0.03

9(0.001

)–24

.41(0.001

)0.00

8(0.488

)

mtDNA variation in the Barguzin Buryat population 13

TAHB_A_443734.3d Monday, 25th January 2010 10:24:13

HVS-I mtDNA profile and inter-population comparison

The comparison of haplogroup frequencies is detailed in the text and presented in Table IV.Our sample from the Barguzin Valley is characterized by a lower frequency (1.6%) ofwestern Eurasian haplotypes (one HV mtDNA sequence) than in the two other Buryatsamples (Buryat 2: 28%; Buryat 3: 15.5%). Such low frequency (< 5%) was detected in theEvenk.

A second difference is the strikingly higher haplogroup C frequency in the two ‘western’Buryat samples (present study and Buryat 2) compared to the pooled Buryat sample 3. Inthe former samples, haplogroup C was detected at around 40% (present study: 44.3%;Buryat 2: 40%) against 16.6% in the Buryat 3 sample. Such high values were detectedelsewhere in the Evenk (53.5%), the Tuvinian (48.87%), the Todjin (47.9%) and the Yakut(38.2%).

Finally, the Buryat 2 is distinct from the two other Buryat samples in its haplogroup Dfrequency. High values (> 25%) of haplogroup D are detected in the present study andBuryat 3 (36.1% and 34.8%) and also in the Sojot (46.7%), the Khamnigan (33.1%), theYakut (30.3%), the Kalmyk (29.3%), and the Evenk (27.94%).

In the haplogroup frequencies analysis (not shown), the low Fst, and non-significantdifferences (pFst > 0.05) observed between the present study sample, the Evenk and theYakut, could be attributed to a low western European component combined with highfrequencies of haplogroups C and D. The relationship between the Sojot and our sample ismostly explained by the low western Eurasian component (6.6%) associated with a highfrequency of haplogroup D (46.7%), and a moderate frequency of haplogroup C (20%).The relationships with the Buryat 2 and the Teleut are less clear. Indeed, these twopopulations showed no significant differences with many (10 and 7, respectively) Siberianpopulations.

The sequence HVS-I confirmed the relationships between our sample from theBarguzin Valley (Table V), the Evenk and Buryat 2 samples (pFSt values > 0.05). Thelow Fst values (Table V) also evidenced the significant but low differentiation of oursample with the Tuvinian (0.011) the Yakut (0.021) and the Todjin populations (0.026),and, to a lesser extent, with the Teleut (0.0308). The Barguzins appeared to be closerto all these populations than to the Buryat 3. Moreover, 13 populations presentedlower Fst values with Buryat 3 than our present study sample did. Only the Russian, theShor, the Buryat 2, the Todjin, the Khakass, the Tuvinian and the Yakut presented higherFst values. The Teleut and the Tuvinian are not significantly distinct from the Buryat 2sample.

The MDS plot of genetic distances, presented in Figure 4, did not include the Russianand the Shor, who appeared to be outliers in the first MDS (not shown). In Figure 4, Buryat1 (present study) and Buryat 2 clustered separately from Buryat 3 along the first dimension,the pooled Buryat 3 sample showing closer genetic ties to the Central Asian cluster thatincludes the Mongol. By contrast, along the second dimension, the two present study andBuryat 3 samples displayed a pattern of relatedness by clustering together and with otherpopulations from the Baikal area (Khamnigan, Sojot and Evenk) or those supposed to haveancestors in this region (Yakut).

The admixture analysis (Table VI) confirmed the distinct pattern of our sample with thepooled Buryat 3 sample. The Turkic (Tuvinian) and Tungusic (Evenk) components arestrikingly high in our sample (45.2 ± 19% and 30.2 ± 18.9%). By contrast, the Mongolcomponent contributes to around 88% (88.1 ± 5.6%) of the genetic pool of the Buryat 3(against 24.6 ± 18% in the present study).

14 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:13

607608609610611612613614615616617618619620621622623624625626627628629630631632633634635636637638639640641642643644645646647648649650651652653654655

Tab

leIV

.mtD

NA

haplog

roup

freq

uenc

iesin

thestud

iedBargu

zinBuryatsamplean

d17

Siberiansamples.

Ref.

Study

S05

D07

D07

D03

D07

D07

D07

D07

D07

D07

D03

D07

D07

D03

S05

D03

–07

P06

/S05

P06

Bur1

Bur2

Bur3¢

Alt_K

Alt

Evk

Kal

Kha

kKha

mM

gSho

rSoj

Tlg

Tel

Tod

jTub

Tuv

Yak

n61

2529

590

110

118

110

5799

4782

3071

5348

7234

917

8A

53.3

3.6

3.6

3.5

513

1.2

105.6

4.2

11.1

1.4

3.4

B4.9

43.4

4.4

3.6

2.5

3.6

8.8

7.1

15.3

4.9

3.3

113.8

4.2

4.2

5.8

5C

44.3

4016

.631

.919

.153

.510

.919

.316

.217

12.1

2016

.628

.247

.919

.548

.938

.2D

36.1

1634

.88.9

15.5

27.9

29.3

1633

.111

12.2

46.7

2124

.94.2

19.5

15.6

30.3

F1.6

3.1

5.5

9.1

0.9

5.5

24.3

46.4

41.2

01.4

5.7

2.1

1.4

4.9

7.3

G6.6

811

.35.5

1.8

3.4

8.2

1.8

10.1

10.6

6.7

2.8

18.8

7.5

4.5

M3.3

45

7.7

7.3

6.3

3.5

512

.73.7

4.2

3.8

4.2

1.4

1.0

1.1

Y1.4

5.1

1.8

33.3

2.1

1.1

1.1

N1.6

2.4

7.2

4.5

14.2

2.8

6.9

1.7

R0.3

1.1

0.9

13.3

4.2

4.2

2.8

0.6

H1.6

46.8

5.6

6.4

0.9

3.6

76.1

1111

7.5

2.1

5.6

2.6

2.2

HV

15.5

21.4

0.3

V4

1.8

5.7

0.0

J4

0.7

5.6

3.6

3.6

5.3

16.1

2.8

2.0

0.5

T1

0.9

1.8

5.3

15.6

5.7

0.6

1.1

I0.3

1.1

1.8

0.9

2.4

1.4

0.9

W0.6

1.1

U12

45.5

16.4

5.4

3.6

26.4

2.4

3.3

75.7

6.3

26.4

3.5

1.1

K1.4

6.7

01.7

2.7

22.1

1.2

3.3

1.9

0.5

X0.3

4.4

2.7

1.9

1.4

Z4

1.4

2.2

4.6

0.87

1.8

2.1

1.2

5.7

10.5

Buryat(B

ur):Bur1(present

stud

y);Bur2(Stariko

vskaya

etal.2

005);B

ur3’

(Deren

koet

al.2

007);Alt-K

:Altaian

Kizhi

(Deren

koet

al.2

007);A

lt:A

ltaian

(Deren

koet

al.

2003

);Evk:E

venk

(Deren

koet

al.2

007);K

al:K

almyk

(Deren

koet

al.2

007);K

hak:

Kha

kass

(Deren

koet

al.2

007);K

ham:K

hamnigan(D

eren

koet

al.2

007);M

g:M

ongo

l(D

eren

koet

al.20

07);Sho

r(D

eren

koet

al.20

07);Soj:Sojot

(Deren

koet

al.20

03);Tlg:Telen

git(D

eren

koet

al.20

07);Tel:Teleu

t(D

eren

koet

al.20

07);Tod

j:Tod

jin(D

eren

koet

al.20

03);

Tub

:Tub

ular

(Stariko

vskaya

etal.20

05);

Tuv

:Tuv

inian(D

eren

koet

al.20

03,20

07;Paken

dorf

etal.20

06;Stariko

vskaya

etal.20

05).

mtDNA variation in the Barguzin Buryat population 15

TAHB_A_443734.3d Monday, 25th January 2010 10:24:14

Tab

leV.Pairw

iseFst

values

(below

diagon

al)an

dpF

stvalues

(abo

vediagon

al)be

tweenBuryat,Siberianpo

pulation

san

dRussian

s,calculated

ontheba

sisof

HVS-I

mtD

NA

sequ

ences(from

np16

024to

1638

0).BoldFst

values

areno

n-sign

ificant

at5%

level(w

itho

utco

rrection

formultipleco

mpa

risons).

Bur1

Bur2

Bur3

Alt

Evk

Kal

Kzk

Kha

kKha

mn

Kyr

Mg

Rus

Sho

rSoj

Tlg

Tel

Tod

Tub

Tuv

Uig

Uzk

Yak

Buryat1

–0.08

850.00

000.00

000.08

500.00

000.00

000.00

000.00

020.00

000.00

000.00

000.00

000.00

310.00

000.00

260.01

300.00

000.01

830.00

000.00

000.00

21Buryat2

0.01

64–

0.00

010.00

050.04

910.00

000.00

000.00

320.00

000.00

010.00

010.00

000.00

000.00

110.00

010.11

900.01

100.00

000.07

150.00

000.00

000.00

80Buryat3

0.03

160.05

31–

0.00

000.00

000.00

900.00

000.00

000.80

380.00

580.00

000.00

000.00

000.05

120.00

140.00

030.00

000.00

010.00

000.00

010.00

000.00

00Altaian

0.05

260.04

300.02

41–

0.00

000.00

000.00

000.00

150.00

000.00

220.00

000.00

000.00

000.00

010.00

780.05

680.00

010.00

230.00

000.00

000.00

000.00

00Evenk

0.00

650.01

860.02

470.02

96–

0.00

000.00

000.00

000.00

010.00

000.00

000.00

000.00

000.00

350.00

000.01

690.03

870.00

000.00

660.00

000.00

000.00

06Kalmyk

0.05

540.06

230.00

530.01

780.03

66–

0.00

260.00

000.19

530.21

820.13

470.00

000.00

000.00

260.01

620.00

110.00

000.00

030.00

000.05

850.00

280.00

00Kazakh

0.07

590.06

820.02

150.01

420.05

290.01

03–

0.00

010.00

000.07

400.00

040.00

000.00

000.00

010.16

310.00

150.00

000.00

010.00

000.20

550.16

070.00

00Kha

kass

0.06

190.04

980.04

310.01

090.03

970.03

710.02

31–

0.00

000.00

010.00

000.00

000.00

000.00

020.00

250.01

860.00

030.00

000.00

000.00

000.00

000.00

00Kha

mnigan

0.03

630.05

910.00

000.02

330.02

640.00

250.02

020.04

18–

0.05

070.05

820.00

000.00

000.11

080.03

010.00

050.00

000.00

410.00

000.00

840.00

010.00

00Kyrgyz

0.05

400.05

910.00

780.01

130.03

580.00

120.00

420.02

590.00

63–

0.07

510.00

000.00

000.00

370.22

380.00

730.00

000.00

160.00

000.28

370.09

390.00

00Mon

gol

0.04

120.04

670.00

640.01

120.02

630.00

140.00

850.02

440.00

380.00

32–

0.00

000.00

000.00

310.05

210.00

510.00

000.00

040.00

000.01

090.00

030.00

00Russian

0.22

390.18

930.12

450.07

280.16

480.10

610.05

370.07

740.13

410.08

600.08

83–

0.00

000.00

000.00

000.00

000.00

000.00

000.00

000.00

000.00

000.00

00Sho

r0.16

660.16

210.11

230.06

560.13

470.08

730.07

310.05

320.10

530.08

420.06

780.11

23–

0.00

000.00

000.00

000.00

000.00

000.00

000.00

000.00

000.00

00Sojot

0.04

380.07

520.01

060.04

120.03

330.02

500.04

760.06

460.00

750.02

730.02

290.18

700.14

18–

0.00

660.00

190.00

360.01

280.00

010.00

050.00

000.00

10Telen

git

0.05

760.06

010.01

380.00

850.03

560.01

070.00

310.01

670.01

000.00

210.00

470.08

020.07

630.02

61–

0.01

930.00

030.03

790.00

000.06

730.06

680.00

00Teleu

t0.03

080.01

260.02

200.00

680.01

380.02

250.01

980.01

600.02

590.01

610.01

270.11

000.09

630.04

140.01

43–

0.02

470.00

410.01

010.00

060.00

000.00

19Tod

jin0.02

570.03

850.04

530.03

420.01

110.06

100.06

610.04

350.05

090.05

050.04

100.18

270.13

310.04

820.04

200.01

85–

0.00

050.05

410.00

000.00

000.00

26Tub

ular

0.06

140.06

970.01

940.01

220.03

700.01

850.02

240.03

160.01

430.01

730.01

340.10

350.09

250.02

550.00

840.02

380.04

21–

0.00

000.00

040.00

010.00

00Tuv

inian

0.01

150.01

400.04

070.03

280.00

650.05

280.06

230.03

800.04

710.04

780.03

880.16

000.13

450.05

530.04

750.01

370.00

850.05

03–

0.00

000.00

000.00

00Uighu

r0.06

910.06

850.01

340.01

660.05

000.00

480.00

190.02

920.01

160.00

140.00

600.07

790.08

230.03

590.00

640.02

370.06

710.02

260.06

22–

0.13

530.00

00Uzbek

0.09

540.08

450.03

020.02

070.06

940.01

290.00

270.03

390.02

540.00

450.01

280.05

230.06

840.05

620.00

730.03

450.08

520.02

850.08

440.00

36–

0.00

00Yakut

0.02

070.03

410.03

250.03

820.01

050.03

850.05

650.04

060.03

700.04

060.02

970.15

870.11

950.04

810.04

510.02

490.02

500.04

930.01

500.05

210.07

39–

16 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:15

Discussion

Our primary goals in this paper were to examine the maternal ancestry of a local Buryatsample from the Barguzin Valley using both mtDNA RFLPs, HVS-I and HVS-II data, andto compare these results of the current study with those of other studies of the Buryat andsurrounding populations. Results show that our Buryat sample does indeed resemble theother Buryat populations, but that it also presents also some distinct features.

Both phylogenetic analysis and inter-population analysis showed common featuresbetween our local sample from the Barguzin Valley and the pooled samples previouslystudied. These samples shared the same haplogroups, and some sequences may be Buryatspecific. The Fst values between the Buryat samples are also not high but the significantvalues show some discrepancies between our local sample and the pooled samples. Although

Yakut

Evenk

Teleut

Altaian

Khakass

Tuvinian

Todjin

Buryat3

Buryat2

Buryat1

-0,04 -0,02 0,02 0,040-0,06

-0,04

-0,03

-0,02

-0,01-- D

im2

-->

-- Dim1 -->

0,01

0,02

0,03

0

Tubular

Kalmyk

Kyrgyz

Uighur

Kazakh

UzbekTelengit

Mongol

Khamnigan

Sojot

Figure 4. Three-dimensional MDS plot based on pairwise Fst values between 20 Central Asian and Siberianpopulations. Stress value is 0.038. Bold lines link populations exhibiting non-significant pairwise Fsts (p > 0.05).The local sample from the Barguzin Valley, i.e. Buryat 1, is in bold type.

Table VI. Admixture estimates and standard errors (in parentheses) for the Barguzin sample (Buryat 1) and thepooled Buryat sample (Buryat 3). Estimations were carried out on the basis of HVI mtDNA sequences (from np16024 to 16380), with Mongol, Tuvinian and Evenk populations considered as parental populations.

Parental contribution Buryat 1 Buryat 3

Mongol 24.6% (± 18%) 88.1% (± 5.6%)Tuvinian 45.2% (± 19%) 8.2% (± 6.3%)Evenk 30.2% (± 18.9%) 3.7% (± 5.3%)

mtDNA variation in the Barguzin Buryat population 17

TAHB_A_443734.3d Monday, 25th January 2010 10:24:16

656657658659660661662663664665666

our local sample and the pooled samples represented the same ethnic group, such dis-crepancies were not unexpected. Phillips-Krawczak et al. (2006) studied a local SouthernAltaian population of Mendur–Sokkon, and compared it with other Altaian populations.They found depressed HVS-I diversity values and neutrality scores, and a distinct pattern ofgenetic affinities with neighbouring populations, concluding that sampling methodology,and the criteria used to define a population, are critical to the successful and reproduciblecharacterization of distinct groups.

The same results were found in our study comparing a local sample from the BarguzinValley with a pooled sample encompassing all territories inhabited by the Buryat. The twocommon signatures of population growth, star like genealogies (Slatkin and Hudson 1991)and unimodal distributions of pairwise differences (mismatch distributions) (Harpending1994) were not detected in our local sample. Moreover, Fu’s Fs significantly differed fromzero but the Tajima’s D and R2 tests did not show significant departures from the nullhypothesis of constant size in our local sample. In Siberia, other populations have beendescribed as lacking any evidence for population growth, for example the East Evenk, Yakut,Shor and Chukchi in Derenko et al. (2007). This has been interpreted as the strong effects ofdrift and/or small sizes in these groups. However, Ray et al. (2003) showed that when anexpansion occurred, the sampling location also influenced the values of the neutrality tests,especially for lowNm values. Städler et al. (2009) also pointed to the limitation of using localpopulation samples to reconstruct past demographic events. They showed that local samplescannot be regarded as being drawn from a panmictic population, and that they generatevalues for both Tajima’s D and Fu’s Fs that are higher than expected under the conditions ofpanmixy. Thus, it is difficult to disentangle the effects of sample size, drift or foundingeffects, geography and/or subdivision of the population, and local sampling effect, leading usto the conclusion that our sample provided poor insights into the demographic history (Nfe)of the Buryat population.

Nevertheless, effects of different sampling methodology are also apparent whencalculating genetic distances. Despite affinities with other Baikal populations, the pooledBuryat 3 sample appeared to be close to Central Asian Turkic groups and Mongolpopulations (Pakendorf et al. 2003), while our Buryat sample from the Barguzin Valleyhad close affinities with Tungusic-speaking Evenk and Turkic-speaking Tuvinian,Todjins, Yakut.

Despite the choice of the parental populations potentially influencing the calculation ofadmixture, the importance of the Mongol component seems to have been overestimatedin the pooled Buryat sample (more than 85%). By contrast, the high Turko-Evenkcomponent in our local sample from the Barguzin Valley is evidenced by the admixtureestimations (75%) and also by the haplogroup distribution and the HVS-I sequencesanalysis.

Firstly, the lower western Eurasian and Mongol components in the present study maybe explained by the geographic location of our sample. The Barguzin Valley is a remotearea; located at the periphery of both Russian and Mongol expansions which may havelimited the impact of these historical migrations on the gene pool of this population.Secondly, the high Turco-Evenk component in this sample confirms the ethnological andarchaeological hypotheses for the origin of the Buryat, and in particular for the northwestern Ekhirit-Bulagat (Bowles 1977; Hamayon 1990; Minahan 2002).

Putting together the interviews, administrative registrants and the census record, itappeared that this genetic pattern is not the result of recent admixtures but reflects thehistorical record reported by Dolghik (in Bowles 1977, p. 278). According to this author,when the Russian reached the Transbaikal region in the mid-seventeenth century AD, only a

18 M. Gibert et al.

TAHB_A_443734.3d Monday, 25th January 2010 10:24:16

722723724725726727728729730731732733734735736737738739740741742743744745746747748749750751752753754755756757758759760761762763764765766767768769770

small group of clans speaking a Mongol dialect was present. The ancestors of the majority ofthe present-day Buryat were then speaking a variety of Turkic–Tungusic dialects. TheseTurkic–Tungusic speakers were further gradually incorporated into the expanding Buryatnation, and simultaneously assumed the Buryat dialect of Mongolian.

These results have provided new insights into the history of the Baikal area, and reinforcethe hypothesis of the Baikal origin of the Yakut. In their study, Pakendorf et al. (2003) foundthat the Turkic-speaking Yakut and Tuvinian of Siberia may have a different ancestry fromother Turkic-speaking steppe populations, and that this ancestry most likely involvedadmixture between a Turkic-speaking steppe population and the Tungusic-speaking Evenk.They also showed a Turkic-component in the Buryat population but they did not find a closerelationship with the Evenk. Then they could not discuss at what point in the ancestry of theYakut and Tuvinian this admixture occurred, and whether it occurred in a common sourcepopulation of Yakut and Tuvinian or whether separately in these populations. In the currentstudy, our sample, inhabiting the Barguzin Valley but coming from the north-western shoreof the Baikal area, exhibit relationships with the Yakut, the Tuvinian (including Todjin) andthe Evenk. These results give additional support to the hypothesis of a peri-Baikal origin ofthe Yakut (Pakendorf et al. 2003, 2006), and to the hypothesis of an admixture occurringbefore the Mongol expansion.

The ethnological studies of Sántha et al. (Sántha 2005; Sántha and Safonova 2007)highlighted the complexity of the interethnic and intra-ethnic relations among peoples livingon the western side of Lake Baikal, and especially the social ties and interconnection betweensteppe and taiga populations. Moreover, Amory et al. (2006) showed that contacts betweensouthern steppe populations and Siberian tribes may be as old as 2000 years BP. Our studyevidenced that such contacts between Turkic and/or Turco-Mongolian populations from thesteppe and Tungus populations would have played a key role in the shaping of the maternalgenetic pattern of the mountain Taiga population from the Barguzin Valley. However, afurther analysis at the genomic level will be necessary to better understand the ancestry ofadmixture between these populations.

Conclusion

The results of this study confirmed the estimation of past demographic parameters obtainedfrom the distribution of the mitochondrial sequences by using coalescent simulations in alocal population (Ray et al. 2003; Städler et al. 2009). As the local population can not beregarded as being drawn from panmictic populations, a pooled sampling strategy may bemore efficient than a local sampling strategy to infer past demographic events. However, wealso showed that local populations may provide new insights into the history of a population.Combining data from all the territories may obscure some population structure of the Buryatpopulation, as in the Altaian population (Phillips-Krawczak et al. 2006). We thus concludethat both local and pooled sampling strategies are needed to understand the history of apopulation at the micro-evolutionary level.

Acknowledgements

We thank E. Guitard for her technical assistance, J.M. Dugoujon, M.H. Crawford and R.Hamayon for scholarly discussions, Z. Zinaida and K. Wis for their valid help. We also thankthe two reviewers for critical comments on the paper. Our appreciation goes to thepopulation of the Barguzin Valley for their participation in our study.

mtDNA variation in the Barguzin Buryat population 19

TAHB_A_443734.3d Monday, 25th January 2010 10:24:16

826827828829830831832833834835836837838839840841842843844845846847848849850851852853854855856857858859860861862863864865866867868869870871872873874

Declaration of interest: This work was supported by the BQR 2005 (Bonus QualityResearch) of the University Paul Sabatier, by the GIP-ANR (French National ResearchAgency) JC05_62756, and by the Franco-Spanish cooperation program egide ‘Picasso’N13528-PJ-2007. The authors confirm no conflict of interest.

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Appendix I.

Results of the search of the Buryat sequences from the Barguzin Valley within the Derenkoet al. database (2007). Numbers represent the number of similar sequences found in onepopulation, and the numbers in parentheses represent the additional similar sequencesfound without taking into account the length variation in poly-C stretches at nucleotidepositions 16180–16193 and 309–315.

Bur1(61)

Bur3¢

(295)Alt(90)

Evk(118)

Kalm(110)

Khak(57)

Kham(99)

Mg(47)

Shor(82)

Tlg(71)

Tel(53)

Tuv(105)

Yak(36)

H01 2 2 1H03 1 2 (1) 1 (1) (1)H04 1 1H05 7 5 2 1H06 2 1H07 2 4 (4) 10 (4) (1) (1) (5) (1) (9)H08 2 (3) (3) (1) (1) (11)H09 1 2 2H10 2 3H11 1 (3) (1)H12 6 3 (1) (2) (1) (2) 3H13 1 2H14 1 4 (3) (1) (1) (1) (2) (1)H15 2 2 1H17 3 5 (1) (1) 2H18 1 1 (1) (1)H19 1 3 2H20 1H21 1H22 1H23 5 8 (2) 2 (1) (1)H24 4 4H25 1H26 3 4 2 1H27 1 1H28 1H29 1 2 1 1H30 2 (2) (3) (1) 1 (1) (4)H31 1H32 1 1

Present Study: Bur1: Buryat from the Barguzin Valley; In Derenko et al. (2007): Bur3’: Buryat; Alt: Altaian;Evk: Evenk; Kal: Kalmyk; Khak: Khakass; Kham: Khamnigan; Mg: Mongol; Shor; Tlg: Telengit; Tel: Teleut; Tuv:Tuvinian; Yak: Yakut.

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