1. Introduction

Advances in Anthropology

2163-9353

Scientific Research Publishing

10.4236/aa.2015.54019

AA-60322

Articles

Social Sciences&Humanities

Distribution of East Eurasian Y-Chromosome and Mitochondrial DNA Haplogroups across Eurasia: Insights into the Genetic Ancestry of Bulgarians

ena

Karachanak-Yankova

¹Desislava

Nesheva

¹Angel

S. Galabov

²Draga

Toncheva

¹^*

The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, Sofia, Bulgaria

Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria

* E-mail:dragatoncheva@gmail.com(DT);

25092015

050420526618 August 2015accepted 13 October 16 October 2015

2014

This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/

The modern Bulgarian mitochondrial DNA (mtDNA) and Y-chromosome gene pools predominantly consist of Western Eurasian haplogroups. In contrast, the Eastern Eurasian lineages are found at very low frequencies in Bulgarians, being represented only by mtDNA haplogroups C (0.2%), D (0.4%) and Z (0.1%) (Karachanak et al., 2012) and Y-chromosome haplogroups C, N and Q (each 0.5%) (Karachanak et al., 2013). A similar pattern is observed in ancient mtDNA samples of proto-Bulgarian human remains, which belong exclusively to Western Eurasian mtDNA haplogroups (Nesheva et al., 2015). In order to investigate Bulgarian ancestry from the perspective of Eastern Eurasian haplogroups, we have analyzed the distribution of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z across Eurasia. The survey was performed using literature data for more than 15,000 individuals from different Eurasian (sub-) populations for each of these haplogroups. The collected data were used to construct Eurasian frequency maps of the considered haplogroups and to test the significance of their incidence between Bulgarians and Europeans, European neighboring populations of Bulgaria and populations, which according to some historical conceptions could have common ancestry with proto-Bulgarians, namely: Altaian, Caucasus, Siberian and Central Asian populations. The spatial distribution of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q contrasts their high frequency among Altaic populations and their occasional appearance in Bulgarians. Furthermore, the comparison of the occurrence of these haplogroups shows no link between Bulgarians and Altaic and Caucasus populations. Based on the substantial genetic input of proto-Bulgarians to the modern Bulgarian gene pool, the present study confirms the nonexistence of a close Y-chromosomal or mtDNA link between proto-Bulgarians on the one hand and Altaic and Caucasus populations on the other.

Bulgarians Y-Chromosome mtDNA Haplogroup

1. Introduction

The territory of Bulgaria has been involved in different migration routes ever since the modern human settlement of Europe in the Upper Paleolithic. Later, it has served as a refugium and fuelled different expansion routes of postglacial re-colonization. The area of present-day Bulgaria also played a significant role in the Neolithic spread (Calafell et al., 1996; Nitecki & Nitecki, 2013; Ray & Adams, 2001) . This prehistorical population background was overlaid by the inhabitance of the Thracians, and later by the invasions of Slavs and proto-Bulgarians, which were considered as populations playing important role in the modern Bulgarian ethnogenesis (Dobrev, 1994, 2005; Haefs, 2009) .

The most disputable issue of the Bulgarian past is the origin of proto-Bulgarians. Their ancestry has been widely debated, as there are even theories describing them as Altaic and Turko-Mongolic people (Zlatarski, 1970) . According to novel archeological, historical and linguistic evidence, the ancient (proto-) Bulgarians made a substantial contribution to the modern Bulgarian gene pool (Dimitrov, 2005; Rashev, 1993) .

The previously performed phylogenetic analysis of 13 ancient mtDNA samples retrieved from proto-Bulga- rian human remains and discovered in three necropolises in Bulgaria dating to VIII-X century AD identified mtDNA haplogroups, which were found in present-day European and Western Eurasian populations. These results pointed to a Western Eurasian matrilineal origin for proto-Bulgarians as well as to a genetic similarity between them and modern Bulgarians (Nesheva et al., 2015) .

The high-resolution phylogenetic analyses of Y-chromosome and mitochondrial DNA (mtDNA) diversity of modern Bulgarians in samples comprising 808 and 855 subjects, respectively, showed that their gene pool was predominantly composed by Western Eurasian haplogroups. On the other hand, Eastern Eurasian haplogroups are represented at negligible frequencies. Thus, mtDNA haplogroups C, D and Z account for 0.2%, 0.4% and 0.1% of the modern Bulgarian gene pool, respectively and Y-chromosome haplogroups C, N and Q are each at frequency of 0.5%. The interpopulational comparisons of Y-chromosome and mtDNA haplogroup frequencies locate modern Bulgarians among European populations in both cases (Karachanak et al., 2012, 2013) .

In order to further test the reliability of the theories of Bulgarian, and in particular of proto-Bulgarian origin, we have depicted the frequency gradients of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z across Eurasia and we have tested the significance of their incidence between Bulgarians and Europeans, European neighboring populations of Bulgaria and populations, which according to some historical conceptions could have common ancestry with proto-Bulgarians, namely: Altaian, Caucasus, Siberian and Central Asian populations.

2. Materials and Methods

We have collected literature data for the frequencies of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z in Eurasian populations. The gathered data for the Y-chromosome haplogroups comprise 19856 samples from 186 (sub-) populations for Hg C, 16418 from 173 (sub-) populations for Hg N and 15652 samples from 160 (sub-) populations for Hg Q (supplementary Tables S1(a)-(c), respectively). For the mtDNA haplogroups we have collected data for 35083 samples representing 226 (sub-) populations for Hg C, 38039 from 242 (sub-) populations for haplogroup D and 17716 samples from 160 (sub-) populations for Hg Z (supplementary Tables S2(a)-(c), respectively). These data were used to construct frequency maps by using the Surfer Golden software following the Kriging procedure.

The occurrences of the aforementioned haplogroups were compared between modern Bulgarians and: Europeans, European neighboring populations of Bulgaria, Altaian, Caucasus, Siberian and Central Asian populations. The comparison was performed through a chi-square test using XLSTAT.

3. Results

The frequency maps of Y-chromosome haplogroups C, N and Q are given in Figure 1.

Haplogroup C, one of the earliest Out-of-Africa founder types, has highest frequencies in the middle latitudes of Asia. It has overwhelming presence among: Oroqens (90.9%), Evens (74.2%), Evenks (68.4%) (Hammer et al., 2005) , Buryats (68.2%), Mongols (65.2%) and Kalmyks (62.6%) (Malyarchuk et al., 2010) . The frequency of haplogroup C decreases in South Asia and diminishes in Europe with only few representatives in the south of the continent.

The frequency map of Hg N, which is considered of Southern East Asia origin (Shi et al., 2013) , depicts the prevalence of this haplogroup mainly in Northern Eurasia. Thus, it is most numerous in European Russia, in particular in: Kursk (92.5%) (Mirabal et al., 2009) , Tver (78.9%), Mezen (53.7%), Krasnoborsk (39.6%), Pinega (39.5%) and Vologda (38.8%); in Siberia, among Yakuts (84.2%) (Derenko et al., 2007a; Sengupta et al., 2006) and Khanty (81.5%) (Mirabal et al., 2009) ; and among Swedish Saami (44.7%) (Karlsson et al., 2006) . Haplogroup N abruptly dissipates in lower latitudes, being virtually absent in southern Eurasia, with the exception of certain southwest Chinese ethnic groups such as Sichuan (13.2%) and Yunnan (10.7%) (Zhong et al., 2011) . Unlike the other considered haplogroups, Hg N has quite uneven distribution among European populations which is summarized in Table 1. It is apparent that Hg N is most prominent in East Slavic populations (Russians, Belarusians and Ukrainians) (Battaglia et al., 2009; Kushniarevich et al., 2013; Mirabal et al., 2009) and Swedish Saami (Karlsson et al., 2006) , but is almost lacking among other Europeans.

Despite its Asian origin (Sharma et al., 2007) , Hg Q is a minor Y-chromosome haplogroup in Eurasia having two occasional frequency peaks in Northwest Siberia among Kets and Selkups (93.8% and 66.4%, respectively) (Karafet et al., 2002) and in Altai people (17.4%) (Hammer et al., 2005) , as its frequency steeply declines outside these regions.

The spatial frequency maps of mtDNA haplogroups C, D and Z are presented in Figure 2.

Haplogroups C and D, which have evolved in Eastern Asia and expanded after the Last Glacial Maximum, comprise almost half of the northern and eastern Asian mtDNA gene pool (Derenko et al., 2007b; Derenko et al., 2010) .

Figure 1 Eurasian frequency distributions of Y-chromosome haplogroups C, N and Q

Table 1 Percent frequency of Y-chromosome haplogroup N in European populations. N-number of analyzed individuals

Populations	N	Hg N %	Reference
European Russia, Belorussia and Ukraine
Belarussian-East Polesie	96	8.3	Kushniarevich et al., 2013
Belarussian-West Polesie	121	8.3	Kushniarevich et al., 2013
Belarussian-Centre	88	8	Kushniarevich et al., 2013
Belarussian-East	86	7	Kushniarevich et al., 2013
Belarussian-North	101	15.8	Kushniarevich et al., 2013
Belarussian-West	73	13.7	Kushniarevich et al., 2013
Russia-Arkhangelski	28	28.6	Mirabal et al., 2009
Russia-Belgorod	143	12.6	Battaglia et al., 2009
Russia-Belgorod	143	12.6	Battaglia et al., 2009
Russia-Kashin	73	11	Battaglia et al., 2009
Russia-Krasnoborsk	91	39.6	Battaglia et al., 2009
Russia-Kuban Cossacs	90	7.8	Battaglia et al., 2009
Russia-Kursk	40	92.5	Mirabal et al., 2009
Russia-Livni	110	5.5	Battaglia et al., 2009
Russia-Livni	110	5.5	Battaglia et al., 2009
Russia-Mezen	54	53.7	Battaglia et al., 2009
Russia-Ostrov	75	28	Battaglia et al., 2009
Russia-Pinega	114	39.5	Battaglia et al., 2009
Russia-Porhov	57	19.3	Battaglia et al., 2009
Russia-Pristen	45	13.3	Battaglia et al., 2009
Russia-Pskov	132	24.2	Battaglia et al., 2009
Russia-Repievka	96	6.3	Battaglia et al., 2009
Russia-Roslavl	107	14	Battaglia et al., 2009
Russia-Tver	38	78.9	Mirabal et al., 2009
Russia-Unzha	52	13.5	Battaglia et al., 2009
Russia-Unzha	52	13.5	Battaglia et al., 2009
Russia-Vologda	121	38.8	Battaglia et al., 2009
Ukraine	92	6.5	Battaglia et al., 2009
Central Europe
Czechs	75	2.7	Battaglia et al., 2009
Germany	16	0	Battaglia et al., 2009
Hungary	53	0	Battaglia et al., 2009
Poland	99	1	Battaglia et al., 2009
Western Europe
Ac¸ores	121	0	Capelli et al., 2007
Antwerpen	72	0	Capelli et al., 2007
Corsica	34	0	Derenko et al., 2007a
France	23	0	Battaglia et al., 2009
Gipuzkoa Basques	74	0	Kushniarevich et al., 2013
Italy-Central Marche	59	0	Larmuseau et al., 2011
Italy-Elba Island Tuscany	95	0	Larmuseau et al., 2011

Italy-West Calabria	57	0	Larmuseau et al., 2011
Kempen Belgium	77	1.3	Capelli et al., 2003
Madeira	129	2.3	Gonçalves et al., 2005
Mechelen Belgium	63	3.2	Capelli et al., 2003
Noord-Brabant Netherlands	130	0	Capelli et al., 2003
Norway	201	1	Semino et al., 2000
Portugal-Central	102	0	Capelli et al., 2007
Portugal-North	101	0	Capelli et al., 2007
Portugal-South	100	0	Capelli et al., 2007
Sardinia	78	0	Francalacci et al., 2003
Sicily	51	0	Francalacci et al., 2003
Spain-Alto Urgel	34	0	López-Parra et al., 2009
Spain-Cerda˜na	37	0	López-Parra et al., 2009
Spain-Cinco Villas	42	0	López-Parra et al., 2009
Spain-Jacetania	31	0	López-Parra et al., 2009
Spain-Vallede Ar’an	25	0	López-Parra et al., 2009
Swedish Saami	38	44.7	Karlsson et al., 2006
Vlaams and Waals Brabant Belgium	135	0.7	Larmuseau et al., 2011
Southeastern Europe
Albania	55	0	Battaglia et al., 2009
Bosniacs	84	0	Battaglia et al., 2009
Bosnian Croats	90	0	Battaglia et al., 2009
Bosnian Serbs	81	6.2	Battaglia et al., 2009
Bulgaria	808	0.5	Karachanak et al., 2013
Crete-Heraklion Prefecture	104	0	Martinez et al., 2007
Crete-Lasithi Plateau	41	0	Martinez et al., 2007
Crete-Lasithi Prefecture	23	0	Martinez et al., 2007
Croats	89	2.2	Battaglia et al., 2009
Croats-Osijek	29	0	Battaglia et al., 2009
FYROM	211	0.5	Noveski et al., 2010
Greece	92	0	Battaglia et al., 2009
Greece-Crete	193	0	King et al., 2008
Greece-Nea Nikomedeia	57	0	King et al., 2008
Greece-Sesklo	57	0	King et al., 2008
Macedonian Greeks	57	0	Battaglia et al., 2009
Moldavia	125	1.6	Varzari et al., 2013
Romania	149	0.7	Martinez-Cruz et al., 2012
Serbia	103	1.9	Regueiro et al., 2012
Slovenia	75	0	Battaglia et al., 2009

Figure 2 Eurasian frequency distributions of mtDNA haplogroups C, D and Z

Haplogroup C is prevalent in Siberia. It has highest frequencies in regions inhabited by Yukaghirs (up to 72.2%) (Volodko et al., 2008) , Evenks (up to 71.8%) and Tofalars (up to 62.1%) (Derenko et al., 2010) . The occurrence of haplogroup C decreases to 5% towards the Volga-Ural region, Central Asia and the Indian subcontinent; which together delineate the diminishing border of the haplogroup.

The distributions of haplogroups C and D are almost overlapping. They slightly differ in haplogroup D frequency maximums which are found in: Oroks of Sakhalin (68.9%), Sojots from the Baikal region (46.7%), Orochens (43.2%), Manchus (42.6%) (Zhao et al., 2011) and Dolgans in North Siberia (39.5%) (Derenko et al., 2010) . Furthermore, the frequency of Hg D drops below 5% more westward and southward than Hg C, but it is also nearly inexistent in Europe and West Asia.

The minor mtDNA haplogroup Z, which is of Central Asian origin, has only a few frequency foci in Eurasia. They are scattered in: Northeastern Asia in Koryaks (21.7%); in the Volga-Ural region in Udmurts (16.7%) (Grosheva et al., 2014) and in parts of Central South Asia among Nu (16.7%) (Liu et al., 2011) , Hazara (13%) (Quintana-Murci et al., 2004) , and Kazakhs (11.3%) (Yao et al., 2004) .

The results of the chi-square test of the occurrence of Y-chromosome haplogroups C, N and Q (supplementary Table S3) and mtDNA haplogroups C and D (supplementary Table S4) are presented in Table 2 and Table 3, respectively.

Table 2 Comparison of the incidence of Y-chromosome haplogroups C, N and Q between Bulgarians and different population groups

Population group^*	N	Hg C	Hg N	Hg Q	p^**
Altaian populations	465	122	45	68	<0.0001
Siberian populations	842	257	478	9	<0.00001
Central Asian populations	700	67	111	49	<0.00001
European populations	2617	4	77	3	0.000035
Bulgarians’ European neighbouring populations	520	0	4	1	0.289988
Bulgarians	808	4	4	4

N-number of samples analyzed; ^*The populations consisting the population groups and their references are given in supplementary Table S3; ^**p-value population group vs Bulgarians.

Table 3 Comparison of the incidence of mtDNA haplogroups C and D between Bulgarians and different population groups

Population group^*	N	Hg C	Hg D	p^**
Altaian populations	1058	252	223	<0.0001
Siberian populations	2892	911	570	<0.0001
Central Asian populations	3078	314	444	<0.0001
Caucasus populations	829	92	54	<0.00001
European populations	8229	20	21	0.896
Bulgarians’ European neighbouring populations	658	1	1	0.873002
Bulgarians	855	2	3

N-number of samples analyzed; ^*The populations consisting the population groups and their references are given in supplementary Table S4; ^**p-value population group vs Bulgarians.

The occurrence of Y-chromosome haplogroups C, N and Q shows that there is statistically significant difference between Bulgarians and: Altaian, Siberian, Central Asian and European populations (p < 0.0001, p < 0.00001, p < 0.00001 and p = 0.000035, respectively). Furthermore, the chi-square test shows a Y-chromosome relation between Bulgarians and their European neighboring populations (p = 0.289988).

The absolute frequencies of mtDNA haplogroups C and D (Hg Z was excluded due to lack of data for part of the populations) point that there is significant difference between Bulgarians and: Altaian, Siberian, Central Asian and Caucasus populations (p < 0.0001, p < 0.0001, p < 0.0001 and p < 0.00001, respectively) and that Bulgarians do not statistically differ from Europeans and their European neighboring populations (p = 0.896 and p = 0.873002, respectively).

4. Discussion

The modern Bulgarian gene pool has been gradually formed from a succession of populations with different genetic impacts. According to novel historical, linguistic and archeological data, one of the strongest genetic signals in the modern Bulgarian gene pool should derive from proto-Bulgarians (Dimitrov, 2005; Rashev, 1993) .

It has been established that the modern Bulgarian mtDNA and Y-chromosome gene pools are overwhelmingly represented by Western Eurasian haplogroups. On the other hand, the Eastern Eurasian lineages among Bulgarians are represented by very low frequencies of mtDNA haplogroups C (0.2%), D (0.4%) and Z (0.1%) and Y-chromosome haplogroups C, N and Q (each 0.5%) (Karachanak et al., 2012, 2013) . Similar to these findings, ancient mtDNA analysis of proto-Bulgarian human remains has revealed the presence of only Western Eurasian haplogroups (Nesheva et al., 2015) .

In order to further genetically test the hypotheses about the origin of modern-and proto-Bulgarians, in the present study we have analyzed the distribution of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z across Eurasia and between modern Bulgarians and different population groups.

The frequency distributions of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q clearly depict their predominance in territories including those inhabited by Altaic (Turkic and Mongolic) populations. All of these haplogroups are underrepresented in Europe, with the exception of Y-chromosome haplogroup N, which is frequent only among East Slavic (Battaglia et al., 2009; Kushniarevich et al., 2013; Mirabal et al., 2009) populations and Swedish Saami (Karlsson et al., 2006) and is one of the features which genetically distinguish them from the remainder of the European populations.

The comparison of the incidence of Y-chromosome haplogroups C, N and Q points to a statistically significant difference between Bulgarians and Altaian, Siberian and Central Asian populations. Conversely, the chi- square test reveals a Y-chromosome link between Bulgarians and their European neighboring populations. The occurrence of mtDNA haplogroups C and D shows a similar pattern, with no association between Bulgarians and Altaian, Siberian, Central Asian and Caucasus populations and with similarity between Bulgarians and: their European neighboring populations and European populations as a whole. The discrepancy in the statistical significance of the distribution of Y-chromosome and mtDNA haplogroups in Bulgarians and Europeans is probably due to the mtDNA uniformity of Europe.

The Eurasian distribution of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q contrasts their high frequency among Altaic populations and their occasional appearance in Bulgarians. Furthermore, the comparison of the occurrence of these haplogroups shows no link between Altaic populations and Bulgarians. Based on the substantial genetic input of proto-Bulgarians to the modern Bulgarian gene pool, our findings confirm the nonexistence of a close Y-chromosomal or mtDNA link between proto-Bulgarians on one hand and Altaic and Caucasus populations on the other.

Acknowledgements

The study was supported by the National Science Fund of Bulgaria, project: “Characterization of the anthropo-genetic identity of Bulgarians”, contract number DOO 2-110/22.05.2009.

Cite this paper

Sena Karachanak-Yankova,Desislava Nesheva,Angel S. Galabov,Draga Toncheva, (2015) Distribution of East Eurasian Y-Chromosome and Mitochondrial DNA Haplogroups across Eurasia: Insights into the Genetic Ancestry of Bulgarians. Advances in Anthropology,05,205-266. doi: 10.4236/aa.2015.54019

Supplementary

Table S1 Absolute and percent frequencies of Y-chromosome haplogroups C (a), N (b) and Q (c) used to construct spatial frequency maps. N-number of analyzed individuals

Country	Reference	N	Hg C	Hg C %
Afghanistan-North	Lacau et al., 2012	44	0	0
Afghanistan-South	Lacau et al., 2012	146	5	3.42
Albania	Battaglia et al., 2009	55	0	0
Altai	Hammer et al., 2005	98	22	22.45
Altaian Kazakhs	Malyarchuk et al., 2010	36	21	58.33
Altaian Kazakhs (Southeastern)	Dulik et al., 2011	89	54	60.67
Altaian Kazakhs (Southwestern)	Dulik et al., 2011	30	17	56.67
Altaians	Malyarchuk et al., 2010	89	14	15.73
Anhui	Zhong et al., 2011	52	7	13.46
Antwerpen	Larmuseau et al., 2011	72	0	0
Balkarians	Battaglia et al., 2009	38	0	0
Belarussian-East Polesie	Kushniarevich et al., 2013	96	0	0
Belarussian-West Polesie	Kushniarevich et al., 2013	121	0	0
Belarussian-Centre	Kushniarevich et al., 2013	88	0	0
Belarussian-East	Kushniarevich et al., 2013	86	0	0
Belarussian-North	Kushniarevich et al., 2013	101	0	0
Belarussian-West	Kushniarevich et al., 2013	73	0	0
Bosniacs	Battaglia et al., 2009	84	0	0
Bosnian Croats	Battaglia et al., 2009	90	0	0
Bosnian Serbs	Battaglia et al., 2009	81	0	0
British Isles	Capelli et al., 2003	1772	0	0
Bulgaria	Karachanak et al., 2013	808	4	0.50
Buryat	Hammer et al., 2005	81	49	60.49
Buryats	Malyarchuk et al., 2010	217	148	68.20
Cambodia	Sengupta et al., 2006	6	0	0
China-Dai	Sengupta et al., 2006	7	2	28.57
China-Daur	Sengupta et al., 2006	7	2	28.57
China-Hezhen	Sengupta et al., 2006	6	3	50.00
China-Lahu	Sengupta et al., 2006	7	0	0
China-Naxi	Sengupta et al., 2006	8	0	0
China-Oroqen	Sengupta et al., 2006	7	5	71.43

China-Tu		Sengupta et al., 2006		7		0		0
China-Tujia		Sengupta et al., 2006		9		1		11.11
China-Uygur		Sengupta et al., 2006		8		1		12.50
China-Xibo		Sengupta et al., 2006		8		3		37.50
China-Yi		Sengupta et al., 2006		9		0		0
Chongqing		Zhong et al., 2011		43		2		4.65
Corsica		Francalacci et al., 2003		34		0		0
Crete		King et al., 2008; Martinez et al., 2007		361		0		0
Croats		Battaglia et al., 2009		118		0		0
Even		Hammer et al., 2005		31		23		74.19
Evenk		Hammer et al., 2005		95		65		68.42
Evenks		Malyarchuk et al., 2010		41		20		48.78
Evenks		Malyarchuk et al., 2010		41		20		48.78
Evenks		Malyarchuk et al., 2010		41		20		48.78
Evens		Malyarchuk et al., 2010		63		34		53.97
France		Semino et al., 2000		23		0		0
Fujian		Zhong et al., 2011		112		9		8.04
FYROM		Noveski et al., 2010		211		0		0
Gansu		Zhong et al., 2011		221		33		14.93
Georgians		Battaglia et al., 2009		66		0		0
Germany		Semino et al., 2000		16		0		0
Gipuzkoa Basques		Alonso et al., 2005		74		0		0
Greece		Battaglia et al., 2009		92		1		1.09
Greece-Nea Nikomedeia		King et al., 2008		57		0		0
Greece-Sesklo		King et al., 2008		57		0		0
Guangdong		Zhong et al., 2011		91		6		6.59
Guangxi		Zhong et al., 2011		272		17		6.25
Guizhou		Zhong et al., 2011		533		40		7.50
Hainan		Zhong et al., 2011		110		0		0
Heilongjiang		Zhong et al., 2011		171		34		19.88
Henan		Zhong et al., 2011		66		8		12.12
Hubei		Zhong et al., 2011		83		12		14.46
Hunan		Zhong et al., 2011		133		19		14.29
Hungary		Battaglia et al., 2009		53		0		0
India-East		Sengupta et al., 2006		128		2		1.56
India North		Sengupta et al., 2006		80		2		2.50
India-Northeast	Sengupta et al., 2006		87		1		1.15

India-Central		Sengupta et al., 2006		71		0		0
India-South		Sengupta et al., 2006		303		6		1.98
India-West		Sengupta et al., 2006		59		2		3.39
Indonesia-East		Hammer et al., 2005		55		18		32.73
Indonesia-West		Hammer et al., 2005		25		1		4.00
Inner Mongolia		Zhong et al., 2011		53		16		30.19
Iran		Grugni et al., 2012		827		9		1.09
Iran North		Regueiro et al., 2006		33		1		3.03
Iran South		Regueiro et al., 2006		117		0		0
Iraq (Marsh Arab)		Al-Zahery et al., 2011		143		0		0
Ireland		Moore et al., 2006		796		0		0
Italy-Apennine Marche		Capelli et al., 2007		27		0		0
Italy-Central Marche		Capelli et al., 2007		59		0		0
Italy-Central Tuscany		Capelli et al., 2007		41		0		0
Italy-Elba Island (Tuscany)		Capelli et al., 2007		95		0		0
Italy-North-East Latium		Capelli et al., 2007		55		0		0
Italy-North-West Apulia		Capelli et al., 2007		46		0		0
Italy-South Apulia		Capelli et al., 2007		71		0		0
Italy-South Latium		Capelli et al., 2007		51		0		0
Italy-Tuscany-Latium border		Capelli et al., 2007		79		0		0
Italy-Val Badia (Alto Adige)		Capelli et al., 2007		34		0		0
Italy-West Calabria		Capelli et al., 2007		57		0		0
Italy-West Campania		Capelli et al., 2007		84		0		0
Japan		Hammer et al., 2005		255		21		8.24
Jiangsu		Zhong et al., 2011		39		6		15.38
Jiangxi		Zhong et al., 2011		26		0		0
Jilin		Zhong et al., 2011		118		16		13.56
Jordan/Amman		Flores et al., 2005		101		0		0
Jordan/Dead Sea		Flores et al., 2005		45		0		0
Kalmyks		Malyarchuk et al., 2010		91		57		62.64
Kempen (Belgium)		Larmuseau et al., 2011		77		0		0
Khakassians		Malyarchuk et al., 2010		64		1		1.56
Khamnigans		Malyarchuk et al., 2010		51		28		54.90
Koreans		Malyarchuk et al., 2010		52		5		9.62
Koryaks		Malyarchuk et al., 2010		39		15		38.46
Liaoning	Zhong et al., 2011		149		34		22.82
Macedonian Greeks	Battaglia et al., 2009		57		0		0

Madeira		Gonc¸alves et al., 2005		129		0		0
Malay		Hammer et al., 2005		32		1		3.13
Manchurian		Hammer et al., 2005		41		18		43.90
Mechelen (Belgium)		Larmuseau et al., 2011		63		0		0
Moldavia		Varzari et al., 2013		125		0		0
Mongolia-Outer		Hammer et al., 2005		149		78		52.35
Mongols		Malyarchuk et al., 2010		46		30		65.22
Ningxia		Zhong et al., 2011		62		11		17.74
Noord-Brabant (Netherlands)		Larmuseau et al., 2011		130		0		0
North Korea		Zhong et al., 2011		19		5		26.32
Norway		Capelli et al., 2003		201		0		0
Oman		Luis et al., 2004		121		4		3.31
Oroqen		Hammer et al., 2005		22		20		90.91
Pakistan-North		Sengupta et al., 2006		86		12		13.95
Pakistan-South		Sengupta et al., 2006		91		1		1.10
Philippines		Hammer et al., 2005		48		1		2.08
Poland		Battaglia et al., 2009		99		0		0
Portugal-Central		Gonc¸alves et al., 2005		102		0		0
Portugal-North		Gonc¸alves et al., 2005		101		1		0.99
Portugal-South		Gonc¸alves et al., 2005		100		1		1.00
Qinghai		Zhong et al., 2011		40		3		7.50
Romania		Martinez-Cruz et al., 2012		149		0		0
Russia-Arkhangelski		Mirabal et al., 2009		28		0		0
Russia-Belgorod		Balanovsky et al., 2008		143		1		0.70
Russia-Izhemski Komi		Mirabal et al., 2009		54		0		0
Russia-Kashin		Balanovsky et al., 2008		73		0		0
Russia-Krasnoborsk		Balanovsky et al., 2008		91		0		0
Russia-Kuban Cossacs		Balanovsky et al., 2008		90		0		0
Russia-Kursk		Mirabal et al., 2009		40		0		0
Russia-Livni		Balanovsky et al., 2008		110		0		0
Russia-Mezen		Balanovsky et al., 2008		54		0		0
Russians		Malyarchuk et al., 2010		406		3		0.74
Russia-Ostrov		Balanovsky et al., 2008		75		0		0
Russia-Pinega		Balanovsky et al., 2008		114		0		0
Russia-Porhov	Balanovsky et al., 2008		57		0		0
Russia-Priluzski Komi	Mirabal et al., 2009		49		0		0
Russia-Pristen	Balanovsky et al., 2008		45		0		0

Russia-Pskov	Balanovsky et al., 2008	132	0	0
Russia-Repievka	Balanovsky et al., 2008	96	0	0
Russia-Roslavl	Balanovsky et al., 2008	107	1	0.93
Russia-Siberia (Khanty)	Mirabal et al., 2009	27	0	0
Russia-Tver	Mirabal et al., 2009	38	0	0
Russia-Unzha	Balanovsky et al., 2008	52	0	0
Russia-Vologda	Balanovsky et al., 2008	121	0	0
Sardinia	Francalacci et al., 2003	78	1	1.28
Serbia	Regueiro et al., 2012	103	0	0
Shandong	Zhong et al., 2011	115	13	11.30
Shanghai	Zhong et al., 2011	17	4	23.53
Shannxi	Zhong et al., 2011	56	6	10.71
Shanxi	Zhong et al., 2011	56	11	19.64
Shors	Malyarchuk et al., 2010	38	1	2.63
Sichuan	Zhong et al., 2011	113	7	6.19
Sicily	Francalacci et al., 2003	51	0	0
Slovenia	Battaglia et al., 2009	75	0	0
Sojots	Malyarchuk et al., 2010	28	15	53.57
South Korea	Hammer et al., 2005	75	7	9.33
Spain-Alto Urgel	Lopez-Parra et al., 2009	34	1	2.94
Spain-Cerda˜na	Lopez-Parra et al., 2009	37	1	2.70
Spain-Cinco Villas	Lopez-Parra et al., 2009	42	0	0
Spain-Jacetania	Lopez-Parra et al., 2009	31	0	0
Spain-Vallede Ar´an	Lopez-Parra et al., 2009	25	0	0
Swedish Saami	Karlsson et al., 2006	38	0	0
Taiwan	Hammer et al., 2005	132	7	5.30
Teleuts	Malyarchuk et al., 2010	44	5	11.36
Tibet	Hammer et al., 2005	105	2	1.90
Tibetans	Zhong et al., 2011	222	7	3.15
Todjins	Malyarchuk et al., 2010	26	2	7.69
Turkey-central	Cinnioglu et al., 2004	152	2	1.32
Turkey-east	Cinnioglu et al., 2004	208	1	0.48
Turkey-west	Cinnioglu et al., 2004	163	4	2.45
Tuvinians	Malyarchuk et al., 2010	108	12	11.11
Ukraine	Battaglia et al., 2009	92	0	0
Vietnam	Hammer et al., 2005	70	3	4.29
Vlaams and Waals Brabant (Belgium)	Larmuseau et al., 2011	135	0	0

Xingjiang	Zhong et al., 2011	244	54	22.13
Xinjiang	Zhong et al., 2011	61	22	36.07
Yakut	Sengupta et al., 2006	18	2	11.11
Yakuts	Malyarchuk et al., 2010	10	2	20.00
Yemen	Cadenas et al., 2008	62	0	0
Yunnan	Zhong et al., 2011	447	41	9.17
Zhejiang	Zhong et al., 2011	102	5	4.90

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Capelli, C., Brisighelli, F., Scarnicci, F., Arredi, B., Caglia, A., Vetrugno, G. et al. (2007). Y chromosome Genetic Variation in the Italian Peninsula Is Clinal and Supports an Admixture Model for the Mesolithic-Neolithic Encounter. Molecular Phylogenetics and Evolution, 44, 228-239. http://dx.doi.org/10.1016/j.ympev.2006.11.030

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Derenko, M., Malyarchuk, B., Denisova, G., Wozniak, M., Grzybowski, T., Dambueva, I., & Zakharov, I. (2007). Y-Chromosome Haplogroup N Dispersals from South Siberia to Europe. Journal of Human Genetics, 52, 763-770. http://dx.doi.org/10.1007/s10038-007-0179-5

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Mirabal, S., Regueiro, M., Cadenas, A. M., Cavalli-Sforza, L. L., Underhill, P. A., Verbenko, D. A. et al. (2009). Y-Chromosome Distribution within the Geo-Linguistic Landscape of Northwestern Russia. European Journal of Human Genetics, 17, 1260-1273. http://www.nature.com/ejhg/journal/v17/n10/suppinfo/ejhg20096s1.html http://dx.doi.org/10.1038/ejhg.2009.6

Sengupta, S., Zhivotovsky, L. A., King, R., Mehdi, S., Edmonds, C. A., Chow, C.-E. T. et al. (2006). Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists. The American Journal of Human Genetics, 78, 202-221. http://dx.doi.org/10.1086/499411

Table S2 Absolute and percent frequencies of mtDNA haplogroup C (a), D (b) and Z (c) used to construct spatial frequency maps. N-number of analyzed individuals

Country	Reference	N	Hg C	Hg C (%)
Adam	Grosheva et al., 2014	54	2	3.70
Afghanistan	Irwin et al., 2010	98	2	2.04
Ainu	Derenko et al., 2010	51	0	0
Altaian Kazakhs	Derenko et al., 2012	98	8	8.16
Altaians	Derenko et al., 2010	110	21	19.09
Ambon	Simonson et al., 2011	43	0	0
Asian Eskimos	Gubina et al., 2013	40	0	0
Austrians	Brandsta¨tter et al., 2007	273	1	0.37
Azerbaijanians	Derenko et al., 2010	89	3	3.37
Azeris	Derenko et al., 2013	22	1	5
Bai	Liu et al., 2011	68	2	3
Bali	Simonson et al., 2011	82	0	0
Baluch	Quintana-Murci et al., 2004	39	0	0
Barghuts	Derenko et al., 2012	149	30	20
Bashkirs	Derenko et al., 2010	207	25	12
Basque Country	Prieto et al., 2011	29	0	0
Basques from Northern Navarre	Cardoso et al., 2011	110	0	0
Belarusians	Kushniarevich et al., 2013	267	3	1
Borneo	Simonson et al., 2011	157	2	1
Bosnians	Malyarchuk et al., 2003	144	0	0
Brahui	Quintana-Murci et al., 2004	38	0	0
British people	Zheng et al., 2012	94	0	0
Bukharan Arabs	Comas et al., 2004	20	4	20.00
Bulgarians	Karachanak et al., 2012	855	2	0.23
Buryats	Derenko et al., 2010	419	89	21
Cantabria	Álvarez-Iglesias et al., 2009	135	0	0
Catalonia	Álvarez-Iglesias et al., 2009	101	0	0
Central Portugal	Prieto et al., 2011	53	0	0
Chaplin	Volodko et al., 2008	50	0	0
Chechens	Derenko et al., 2010	67	3	4

Chinese	Derenko et al., 2010	1930	87	4.51
Chukchi	Derenko et al., 2010	417	55	13
Chukchi	Gubina et al., 2013	159	22	13.84
Chukchi	Volodko et al., 2008	182	34	18.80
Chutyr’	Grosheva et al., 2014	63	3	4.76
Chuvantsi	Derenko et al., 2010	32	10	31
Chuvashis	Derenko et al., 2010	142	2	1.41
Crimean Tatars	Comas et al., 2004	20	0	0
Cypriots	Irwin et al., 2008	91	0	0
Czech	Mielnik-Sikorska et al., 2013	85	0	0
Czechs (Western Bohemia)	Malyarchuk et al., 2006	179	0	0
Dai	Liu et al., 2011	41	5	12.20
Danes	Mikkelsen et al., 2010	201	0	0
Darginians	Derenko et al., 2010	37	1	2.70
Daurs, China	Derenko et al., 2010	45	3	6.67
Dolgans	Derenko et al., 2010	157	61	38.85
Dong	Liu et al., 2011	28	0	0
Dungan	Comas et al., 2004	16	1	6.25
East Evenks	Derenko et al., 2010	45	29	64
Eskimos	Derenko et al., 2010	254	2	0.79
European Russia (Novgorod oblast)	Grzybowski et al., 2007	157	0	0
Evenks	Derenko et al., 2010	71	51	72
Evenks	Gubina et al., 2013	38	20	53
Evenks, China	Derenko et al., 2010	47	9	19.15
Evens	Derenko et al., 2010	191	72	38
Ezhevo	Grosheva et al., 2014	39	11	28
Finns	Hedman et al., 2007	200	0	0
Fins	Zheng et al., 2012	97	0	0
French people	Richard et al., 2007	868	0	0
Gelao	Liu et al., 2011	177	14	8
Georgians	Derenko et al., 2010	57	1	1.75
Gilaki	Quintana-Murci et al., 2004	37	0	0
Gujarati	Quintana-Murci et al., 2004	34	0	0

Han Chinese	Yao et al., 2002	263	8	3.04
Hazara	Quintana-Murci et al., 2004	23	0	0
Hui	Yao et al., 2004	45	1	2.22
Hui, China	Derenko et al., 2010	45	1	2.22
Hungarians	Derenko et al., 2010	344	2	0.58
Hunza Burusho	Quintana-Murci et al., 2004	44	1	2
Hungarians (Budapest)	Irwin et al., 2007	211	0	0
Iranians	Derenko et al., 2013	352	5	1.42
Iranians	Comas et al., 2004	20	2	10.00
Iraqis	Al-Zahery et al., 2003	216	0	0
India	Derenko et al., 2010	2544	31	1.22
Itelmens	Derenko et al., 2010	46	6	13.04
Japanese	Derenko et al., 2010	1312	7	0.53
Java	Simonson et al., 2011	46	1	2
Kabachigurt	Grosheva et al., 2014	57	3	5
Kabardinians	Derenko et al., 2010	51	1	2
Kalash	Quintana-Murci et al., 2004	44	0	0
Kalmyks	Derenko et al., 2010	110	12	11
Karakalpaks	Derenko et al., 2010	108	16	15
Kazak	Comas et al., 2004	20	1	5
Kazak	Yao et al., 2004	53	7	13
Kazakhs	Derenko et al., 2010	511	44	9
Kazakhs, China	Derenko et al., 2010	53	7	13
Kazakhstan	Irwin et al., 2010	256	20	8
Kazan Tatars (Azmakaevo)	Malyarchuk et al., ‎2010	71	4	6
Kets	Derenko et al., 2010	104	13	13
Khakassians	Derenko et al., 2010	110	30	27
Khakassians	Derenko et al., 2007	57	11	19
Khamnigans	Derenko et al., 2010	99	16	16.16
Khants	Derenko et al., 2010	106	11	10.38
Khanty	Pimenoff et al., 2008	106	11	10
Khoremian Uzbek	Comas et al., 2004	20	0	0
Kirghiz	Derenko et al., 2010	200	28	14

Komis	Derenko et al., 2010	121	6	5
Koreans	Derenko et al., 2010	1297	26	2.00
Koreans, China	Derenko et al., 2010	48	0	0
Koryaks	Derenko et al., 2010	182	67	36.81
Koryaks	Gubina et al., 2013	69	16	23.19
Kurdish	Derenko et al., 2010	135	1	0.74
Kurdish-Western Iran	Quintana-Murci et al., 2004	20	0	0
Kurdish-Turkmenistan	Quintana-Murci et al., 2004	32	3	9.38
Kuzyumovo	Grosheva et al., 2014	72	1	1
Kyrgyz	Comas et al., 2004	20	6	30
Kyrgyzstan	Irwin et al., 2010	249	32	12.85
Lahu	Liu et al., 2011	35	0	0
Lesagurt	Grosheva et al., 2014	63	7	11
Lombok	Simonson et al., 2011	44	1	2
Lower Kolyma-Indigirka	Volodko et al., 2008	82	54,038	65.90
Lur	Quintana-Murci et al., 2004	17	0	0
Macedonians (FYROM)	Zimmermann et al., 2007	200	0	0
Makrani	Quintana-Murci et al., 2004	33	0	0
Manchu	Zhao et al., 2011	47	2	4.26
Mansi	Derenko et al., 2010	161	30	19
Mansi	Pimenoff et al., 2008	63	13	20.63
Maris	Derenko et al., 2010	234	2	0.85
Mazandarian	Quintana-Murci et al., 2004	21	0	0
Miao	Liu et al., 2011	103	10	9.71
Mongolian	Yao et al., 2004	49	5	10.20
Mongolians	Derenko et al., 2010	150	23	15
Mongolians, China	Derenko et al., 2010	97	8	8
Mordvins	Derenko et al., 2010	120	2	1.67
Mulam	Liu et al., 2011	39	0	0
Nanaians	Gubina et al., 2013	86	8	9.30
Nanais	Derenko et al., 2010	85	8	9
Naukan	Volodko et al., 2008	39	0	0
Naxi	Liu et al., 2011	45	4	8.89
Negidals	Derenko et al., 2010	33	5	15

Nenets		Derenko et al., 2010		58		18		31
Nenets Tundra		Derenko et al., 2010		70		34		49
Nganasan		Volodko et al., 2008		39		20,007		51
Nganasans		Derenko et al., 2010		78		26		33
Nivkhs		Derenko et al., 2010		56		0		0
Nivkhs		Gubina et al., 2013		17		0		0
Nogays		Derenko et al., 2010		206		25		12.14
North and Central Italians		Turchi et al., 2008		395		0		0
North Portugal		Prieto et al., 2011		187		0		0
Northern Caucasians		Derenko et al., 2010		199		8		4
Northern Greeks		Irwin et al., 2008		319		1		0
Nu		Liu et al., 2011		30		0		0
Orochens, China		Derenko et al., 2010		44		13		30
Oroks		Derenko et al., 2010		61		7		11
Osettins		Derenko et al., 2010		123		4		3.25
Pakistani		Derenko et al., 2010		189		4		2
Parsis		Quintana-Murci et al., 2004		44		0		0
Pathan		Quintana-Murci et al., 2004		44		0		0
Persian		Quintana-Murci et al., 2004		42		0		0
Persians		Derenko et al., 2010		518		4		0.77
Persians		Derenko et al., 2013		181		1		1
Phillipines		Simonson et al., 2011		61		0		0
Poland (Kashubians)		Mielnik-Sikorska et al., 2013		203		1		0.49
Poland (Podhale)		Mielnik-Sikorska et al., 2013		201		0		0
Poland Northeastern		Grzybowski et al., 2007		73		0		0
Poland Northern		Grzybowski et al., 2007		253		0		0
Poland Southern		Grzybowski et al., 2007		87		1		1.15
Poles		Derenko et al., 2010		947		5		1
Qashqais		Derenko et al., 2013		112		2		2
Romanians		Derenko et al., 2010		360		10		2.78
Saudi Arabs		Abu-Amero et al., 2008, 2007		553		0		0
Selkups		Derenko et al., 2010		120		26		21.67
Serbia-Vojvodina Province		Zgonjanin et al., 2010		104		0		0
Shors	Derenko et al., 2010		82		10		12
Shugnan	Quintana-Murci et al., 2004		44		8		18
Shugnan, Tajikistan	Derenko et al., 2010		44		8		18
Shui	Liu et al., 2011		30		0		0

Sindhi	Quintana-Murci et al., 2004	23		0		0
Sireniki	Volodko et al., 2008	37		0		0
Slovaks	Lehocký et al., 2008		374		4		1.07
Slovenians	Malyarchuk et al., 2003		104		0		0
Sojots	Derenko et al., 2010		30		6		20.00
Southern Germany (Ulm)	Brandsta¨tter et al., 2006		100		0		0
Spain	Prieto et al., 2011		403		0		0
Staraya Salya	Grosheva et al., 2014		54		4		7.41
Sulawesi	Simonson et al., 2011		237		1		0.42
Sumatra	Simonson et al., 2011		180		0		0
Sumba	Simonson et al., 2011		50		0		0
Svetozarevo	Grosheva et al., 2014		45		1		2
Taiwan	Simonson et al., 2011		78		0		0
Tajikistan	Irwin et al., 2010		244		36		14.75
Tajiks	Derenko et al., 2010		82		6		7.32
Tatars	Derenko et al., 2010		310		7		2.26
Tatars from Buinsk (Mishars)	Malyarchuk et al., ‎2010		126		0		0
Telenghits	Derenko et al., 2010		71		12		16.90
Teleuts	Derenko et al., 2010		53		15		28.30
Thai	Derenko et al., 2010		552		19		3.44
Tibetan	Liu et al., 2011		40		0		0
Todjins	Derenko et al., 2010		48		23		47.92
Tofalars	Derenko et al., 2010		58		36		62.07
Tsipya	Grosheva et al., 2014		53		1		1.89
Tubalars	Derenko et al., 2010		72		14		19.44
Tujia	Liu et al., 2011		29		2		6.90
Turkish	Quintana-Murci et al., 2004		40		0		0
Turkmen	Comas et al., 2004		20		1		5.00
Turkmen	Quintana-Murci et al., 2004		41		3		7.32
Turkmenistan	Irwin et al., 2010		249		17		6.83
Turkmens	Derenko et al., 2010		178		24		13.48
Turks	Derenko et al., 2010		218		4		1.83
Tuscans	Zheng et al., 2012		105		0		0
Tuscans	Achilli et al., 2007		322		0		0
Tuvinians	Derenko et al., 2010		231		109		47.19
Tuvinians	Derenko et al., 2007		105		53		50.48

Udegeys	Derenko et al., 2010	46	8	17.39
Udmurts	Derenko et al., 2010	189	5	2.65
Uighurs	Derenko et al., 2010	177	13	7.34
Uighurs, China	Derenko et al., 2010	47	3	6.38
Ukraine	Mielnik-Sikorska et al., 2013	159	2	1.26
Ulchi	Derenko et al., 2010	87	12	13.79
Upper Anadyr (Chuvantsi)	Volodko et al., 2008	32	10,016	31.30
Upper Kolyma (Yukaghirs)	Volodko et al., 2008	18	12,996	72.20
Uygur	Yao et al., 2004	47	3	6.38
Uzbek	Comas et al., 2004	20	2	10.00
Uzbek	Yao et al., 2004	58	3	5.17
Uzbek	Quintana-Murci et al., 2004	42	1	2.38
Uzbekistan	Irwin et al., 2010	328	27	8.23
Uzbeks	Derenko et al., 2010	130	8	6.15
Va	Liu et al., 2011	36	0	0
West Evenks	Derenko et al., 2010	73	34	46.58
Yakuts	Derenko et al., 2010	254	119	46.85
Yao	Liu et al., 2011	40	4	10.00
Yi	Liu et al., 2011	20	0	0
Yugdon	Grosheva et al., 2014	58	7	12.07
Yukaghirs	Derenko et al., 2010	100	67	67.00
Yukaghirs	Gubina et al., 2013	66	41	62.12
Zhulang	Liu et al., 2011	83	4	4.82

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Zimmermann, B., Brandstatter, A., Duftner, N., Niederwieser, D., Spiroski, M., Arsov, T., & Parson, W. (2007). Mitochondrial DNA Control Region Population Data from Macedonia. Forensic Science International: Genetics, 1, e4-e9. http://dx.doi.org/10.1016/j.fsigen.2007.03.002

References S2(b)

Al-Zahery, N., Semino, O., Benuzzi, G., Magri, C., Passarino, G., Torroni, A., & Santachiara-Benerecetti, A. S. (2003). Y- Chromosome and mtDNA Polymorphisms in Iraq, a Crossroad of the Early Human Dispersal and of Post-Neolithic Migrations. Molecular Phylogenetics and Evolution, 28, 458-472. http://dx.doi.org/10.1016/S1055-7903(03)00039-3

Cardoso, S., Alfonso-Sanchez, M. A., Valverde, L., Odriozola, A., Perez-Miranda, A. M., Pena, J. A., & de Pancorbo, M. M. (2011). The Maternal Legacy of Basques in Northern Navarre: New Insights into the Mitochondrial DNA Diversity of the Franco-Cantabrian Area. American Journal of Physical Anthropology, 145, 480-488. http://dx.doi.org/10.1002/ajpa.21532

References S2(c)

Pimenoff, V. N., Comas, D., Palo, J. U., Vershubsky, G., Kozlov, A., & Sajantila, A. (2008). Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian Gene Pools as Revealed by Uniparental Markers. European Journal of Human Genetics, 16, 1254-1264. http://www.nature.com/ejhg/journal/v16/n10/suppinfo/ejhg2008101s1.html http://dx.doi.org/10.1038/ejhg.2008.101

Table S3 Absolute frequencies of Y-chromosome haplogroups C, N and Q in the population groups used in the chi-square test comparison. N-number of analyzed individuals; <sup>*</sup>p-value population group vs Bulgarians

Population group	N	Hg C	Hg N	Hg Q	Reference	p^*
Altai populations
Altaian Kazakhs (Southeastern)	89	54	0	0	Dulik et al., 2012
Altai	98	22	4	17	Hammer et al., 2006
Altaian Kazakhs (Southwestern)	30	17	0	1	Dulik et al., 2012
Altaians	59	5	19	5	Gubina et al., 2013
Altai-Kizhi	120	24	5	20	Dulik et al., 2012
Chelkan	25	0	5	15	Dulik et al., 2012
Kumandin	17	0	9	0	Dulik et al., 2012
Tubalar	27	0	3	10	Dulik et al., 2012
Total	465	122	45	68		<0.0001
Siberian populations
Evenks	152	83	52	4	Hammer et al., 2006; Fedorova et al., 2013
Buryats	298	119	143	0	Kharkov et al., 2014
Evens	24	10	12	0	Fedorova et al., 2013
Shorians	21	0	17	0	Gubina et al., 2013
Tuvinians	102	27	46	5	Gubina et al., 2013
Yakuts	234	14	205	0	Sengupta et al., 2006; Fedorova et al., 2013
Yukaghirs	11	4	3	0	Fedorova et al., 2013
Total	842	257	478	9		<0.00001
Central Asian populations
Khakassians	176	2	88	7	Gubina et al., 2013
Kazakhs	49	20	2	0	Gubina et al., 2013
Kyrgyz	132	26	6	1	Di Cristofaro et al., 2013
Tajik	142	13	5	5	Di Cristofaro et al., 2013
Turkmen-Jawzjan	74	1	5	25	Di Cristofaro et al., 2013
Uzbek	127	5	5	11	Di Cristofaro et al., 2013
Total	700	67	111	49		<0.00001
Europeans
Belarussian-East Polesie	96	0	8	0	Kushniarevich et al., 2013
Belarussian-West Polesie	121	0	10	1	Kushniarevich et al., 2013
Belarussian-Centre	88	0	7	0	Kushniarevich et al., 2013
Belarussian-East	86	0	6	0	Kushniarevich et al., 2013
Belarussian-North	101	0	16	0	Kushniarevich et al., 2013
Belarussian-West	73	0	10	0	Kushniarevich et al., 2013
Bosniacs	84	0	0	0	Battaglia et al., 2009
Bosnian Croats	90	0	0	0	Battaglia et al., 2009
Bosnian Serbs	81	0	5	0	Battaglia et al., 2009
Corsica	34	0	0	0	Francalacci et al., 2003

Croats	89	0	2	0	Battaglia et al., 2009
Croats-Osijek	29	0	0	0	Battaglia et al., 2009
Czechs	75	0	2	0	Battaglia et al., 2009
France	23	0	0	0	Semino et al., 2000
FYROM	211	0	1	0	Noveski et al., 2010
Germany	16	0	0	0	Semino et al., 2000
Gipuzkoa Basques	74	0	0	0	Alonso et al., 2005
Greece	92	1	0	0	Battaglia et al., 2009
Hungary	53	0	0	0	Battaglia et al., 2009
Italy-Central Marche	59	0	0	0	Capelli et al., 2007
Italy-Elba Island (Tuscany)	95	0	0	0	Capelli et al., 2007
Macedonian Greeks	57	0	0	0	Battaglia et al., 2009
Poland	99	0	1	0	Battaglia et al., 2009
Portugal-Central	102	0	0	0	Goncalves et al., 2005
Portugal-North	101	1	0	0	Goncalves et al., 2005
Romania	149	0	1	1	Martinez-Cruz et al., 2012
Serbia	103	0	2	0	Regueiro et al., 2012
Slovenia	75	0	0	0	Battaglia et al., 2009
Spain-Cinco Villas	42	0	0	0	Lopez-Parra et al., 2009
Spain-Jacetania	31	0	0	0	Lopez-Parra et al., 2009
Spain-Vallede Ar´an	25	0	0	0	Lopez-Parra et al., 2009
Spain-Alto Urgel	34	1	0	0	Lopez-Parra et al., 2009
Spain-Cerda˜na	37	1	0	0	Lopez-Parra et al., 2009
Ukraine	92	0	6	1	Battaglia et al., 2009
Total	2617	4	77	3		0.000035
European neighbouring countries of Bulgaria
FYROM	211	0	1	0	Noveski et al., 2010
Macedonian Greeks	57	0	0	0	Battaglia et al., 2009
Serbia	103	0	2	0	Regueiro et al., 2012
Romanians	149	0	1	1	Martinez-Cruz et al., 2012
Total	520	0	4	1		0.289988
Bulgarians	808	4	4	4	Karachanak et al., 2013

References S3

Abu-Amero, Alonso, S., Flores, C., Cabrera, V., Alonso, A., Martin, P., Albarran, C. et al. (2005). The Place of the Basques in the European Y-Chromosome Diversity Landscape. European Journal of Human Genetics, 13, 1293-1302. http://dx.doi.org/10.1038/sj.ejhg.5201482

Di Cristofaro, J., Pennarun, E., Mazières, S., Myres, N. M., Lin, A. A., Temori, S. A. et al. (2013). Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge. PLoS ONE, 8, e76748. http://dx.doi.org/10.1371/journal.pone.0076748

Dulik, M. C., Zhadanov, S. I., Osipova, L. P., Askapuli, A., Gau, L., Gokcumen, O. et al. (2012). Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians. American Journal of Human Genetics, 90, 229-246. http://dx.doi.org/10.1016/j.ajhg.2011.12.014

Fedorova, S. A., Reidla, M., Metspalu, E., Metspalu, M., Rootsi, S., Tambets, K. et al. (2013). Autosomal and Uniparental Portraits of the Native Populations of Sakha (Yakutia): Implications for the Peopling of Northeast Eurasia. BMC Evolutionary Biology, 13, 127. http://dx.doi.org/10.1186/1471-2148-13-127

Gubina, M. A., Damba, L. D., Babenko, V. N., Romaschenko, A. G., & Voevoda, M. I. (2013). Haplotype Diversity in mtDNA and Y-Chromosome in Populations of Altai-Sayan Region. Russian Journal of Genetics, 49, 329-343. http://dx.doi.org/10.1134/S1022795412120034

Kharkov, V. N., Khamina, K. V., Medvedeva, O. F., Simonova, K. V., Eremina, E. R., & Stepanov, V. A. (2014). Gene Pool of Buryats: Clinal Variability and Territorial Subdivision Based on Data of Y-Chromosome Markers. Russian Journal of Genetics, 50, 180-190. http://dx.doi.org/10.1134/S1022795413110082

López-Parra, A., Gusmao, L., Tavares, L., Baeza, C., Amorim, A., Mesa, M. et al. (2009). In search of the Pre- and Post-Neolithic Genetic Substrates in Iberia: Evidence from Y-Chromosome in Pyrenean Populations. Annals of Human Genetics, 73, 42-53. http://dx.doi.org/10.1111/j.1469-1809.2008.00478.x

Table S4 Absolute frequencies of mtDNA haplogroups C and D in the population groups used in the chi-square test comparison. N-number of analyzed individuals; <sup>*</sup>p-value population group vs Bulgarian

Population group	N	Hg C	Hg D	Reference	p^*
Altai populations
Altaian Kazakhs	98	8	26	Derenko et al., 2012
Altaians	110	21	17	Derenko et al., 2010
Altai-Kizhi	324	98	58	Dulik et al., 2012
Chelkan	91	14	21	Dulik et al., 2012
Kumandin	52	22	10	Dulik et al., 2012
Shor	28	5	8	Dulik et al., 2012
Telenghits	71	12	15	Derenko et al., 2010
Telengit	55	8	10	Dulik et al., 2012
Teleuts	53	15	13	Derenko et al., 2010
Teleuts	33	8	9	Dulik et al., 2012
Tubalar	143	41	36	Dulik et al., 2012
Total	1058	252	223		<0.0001
Siberian populations
Buryats	419	89	146	Derenko et al., 2010
Dolgans	157	61	62	Derenko et al., 2010
East Evenks	45	29	11	Derenko et al., 2010
Evenks	109	71	26	Derenko et al., 2010; Gubina et al., 2013
Kalmyks	110	12	32	Derenko et al., 2010
Kets	104	13	3	Derenko et al., 2010
Khakassians	110	30	16	Derenko et al., 2010
Khamnigans	99	16	31	Derenko et al., 2010
Khants	106	11	17	Derenko et al., 2010
Mansi	161	30	20	Derenko et al., 2010
Nenets	58	18	13	Derenko et al., 2010
Nenets Tundra	70	34	4	Derenko et al., 2010
Nganasans	78	26	22	Derenko et al., 2010
Nganasans	78	26	22	Derenko et al., 2010
Selkups	120	26	4	Derenko et al., 2010
Shors	82	10	10	Derenko et al., 2010
Sojots	30	6	14	Derenko et al., 2010
Todjins	48	23	2	Derenko et al., 2010
Tofalars	58	36	0	Derenko et al., 2010
Tuvinians	231	109	36	Derenko et al., 2010

West Evenks	73	34	22	Derenko et al., 2010
Yakuts	254	119	15	Derenko et al., 2010
Total	2600	829	528		<0.00001
Central Asian populations
Bukharan Arabs	20	4	0	Comas et al., 2004
Karakalpaks	108	16	19	Derenko et al., 2010
Kazak	840	72	155	Derenko et al., 2010; Irwin et al., 2010; Comas et al., 2004; Yao et al., 2004
Kyrgyz	469	66	90	Derenko et al., 2010; Irwin et al., 2010; Comas et al., 2004
Tajiks	414	58	28	Derenko et al., 2010; Irwin et al., 2010; Quintana-Murci et al., 2004
Turkmens	447	42	61	Derenko et al., 2010; Irwin et al., 2010; Comas et al., 2004
Uighurs	224	16	29	Derenko et al., 2010; Yao et al. 2004
Uzbeks	556	40	62	Derenko et al., 2010; Irwin et al., 2010; Comas et al., 2004; Yao et al. 2004
Total	3078	314	444		<0.0001
Caucasus
Azerbaijanians	89	6	0	Derenko et al., 2010
Chechens	67	6	0	Derenko et al., 2010
Darginians	37	2	0	Derenko et al., 2010
Georgians	57	2	6	Derenko et al., 2010
Kabardinians	51	2	0	Derenko et al., 2010
Nogays	206	50	32	Derenko et al., 2010
Northern Caucasians	199	16	16	Derenko et al., 2010
Osettins	123	8	0	Derenko et al., 2010
Total	829	92	54		< 0.00001
Austrians	273	1	0	Brandsta¨tter et al., 2007
Basque Country	29	0	0	Prieto et al., 2011
Basques from Northern Navarre	110	0	0	Cardoso et al., 2011
Belarusians	267	3	1	Kushniarevich et al., 2013
Bosnians	144	0	0	Malyarchuk et al., 2003
British people	94	0	0	Zheng et al., 2012
Cantabria	135	0	0	Álvarez-Iglesias et al., 2009
Catalonia	101	0	2	Álvarez-Iglesias et al., 2009
Central Portugal	53	0	0	Prieto et al., 2011
Cypriots	91	0	0	Irwin et al., 2008
Czech	85	0	0	Mielnik-Sikorska et al., 2013
Czechs (Western Bohemia)	179	0	1	Malyarchuk et al., 2006

Danes	201	0	0	Mikkelsen et al., 2010
European Russia (Novgorod oblast)	157	0	2	Grzybowski et al., 2007
Fins	297	0	0	Zheng et al., 2012; Hedman et al., 2007
French people	868	0	0	Richard et al., 2007
Hungarians	344	2	2	Derenko et al., 2010
Hungarians (Budapest)	211	0	2	Irwin et al., 2007
Macedonians (FYROM)	200	0	0	Zimmermann et al., 2007
North and Central Italians	395	0	3	Turchi et al., 2008
North Portugal	187	0	1	Prieto et al., 2011
Northern Greeks	319	1	0	Irwin et al., 2008
Poland (Kashubians)	203	1	0	Mielnik-Sikorska et al., 2013
Poland (Podhale)	201	0	1	Mielnik-Sikorska et al., 2013
Poland Northeastern	73	0	0	Grzybowski et al., 2007
Poland Northern	253	0	0	Grzybowski et al., 2007
Poland Southern	87	1	0	Grzybowski et al., 2007
Poles	947	5	3	Derenko et al., 2010
Serbia	139	0	1	Davidovic et al., 2014
Serbia-Vojvodina Province	104	0	0	Zgonjanin et al., 2010
Slovaks	374	4	0	Lehocký et al., 2008
Slovenians	104	0	0	Malyarchuk et al., 2003
Southern Germany (Ulm)	100	0	0	Brandsta¨tter et al., 2006
Spain	403	0	0	Prieto et al., 2011
Tuscans	105	0	1	Zheng et al., 2012
Tuscans	322	0	1	Achilli et al., 2007
Ukraine	159	2	0	Mielnik-Sikorska et al., 2013
Total	8229	20	21		0.873
European neighbouring countries of Bulgaria
FYROM	200	0	0	Zimmermann et al., 2007
Northern Greeks	319	1	0	Irwin et al., 2008
Serbia	139	0	1	Davidovic et al., 2014
Total	658	1	1		0.710
Bulgarians	2	3	850	Karachanak et al., 2012

References S4

Abu-Amero, Achilli, A., Olivieri, A., Pala, M., Metspalu, E., Fornarino, S., Battaglia, V. et al. (2007). Mitochondrial DNA Variation of Modern Tuscans Supports the Near Eastern Origin of Etruscans. American Journal of Human Genetics, 80, 759-768. http://dx.doi.org/10.1086/512822

Davidovic, S., Malyarchuk, B., Aleksic, J. M., Derenko, M., Topalovic, V., Litvinov, A. et al. (2015). Mitochondrial DNA Perspective of Serbian Genetic Diversity. American Journal of Physical Anthropology, 156, 449-465. http://dx.doi.org/10.1002/ajpa.22670

Zgonjanin, D., Veselinovic, I., Kubat, M., Furac, I., Antov, M., Loncar, E., & Omorjan, R. (2010). Sequence Polymorphism of the Mitochondrial DNA Control Region in the Population of Vojvodina Province, Serbia. Legal Medicine (Tokyo, Japan), 12, 104-107. http://dx.doi.org/10.1016/j.legalmed.2009.10.007

NOTES

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Hedman, M., Brandstatter, A., Pimenoff, V., Sistonen, P., Palo, J. U., Parson, W., & Sajantila, A. (2007). Finnish Mitochondrial DNA HVS-I and HVS-II Population Data. Forensic Science International, 172, 171-178. http://dx.doi.org/10.1016/j.forsciint.2006.09.012

Lehocky, I., Baldovic, M., Kádasi, L., & Metspalu, E. (2008). A Database of Mitochondrial DNA Hypervariable Regions I and II Sequences of Individuals from Slovakia. Forensic Science International: Genetics, 2, e53-e59. http://dx.doi.org/10.1016/j.fsigen.2007.12.008

Malyarchuk, B. A., Grzybowski, T., Derenko, M. V., Czarny, J., Drobnic, K., & Miscicka-Sliwka, D. (2003). Mitochondrial DNA Variability in Bosnians and Slovenians. Annals of Human Genetics, 67, 412-425. http://dx.doi.org/10.1046/j.1469-1809.2003.00042.x

Prieto, L., Zimmermann, B., Goios, A., Rodriguez-Monge, A., Paneto, G. G., Alves, C. et al. (2011). The GHEP-EMPOP Collaboration on mtDNA Population Data—A New Resource for Forensic Casework. Forensic Science International: Genetics, 5, 146-151. http://dx.doi.org/10.1016/j.fsigen.2010.10.013

Zgonjanin, D., Veselinovic, I., Kubat, M., Furac, I., Antov, M., Loncar, E., & Omorjan, R. (2010). Sequence Polymorphism of the Mitochondrial DNA Control Region in the Population of Vojvodina Province, Serbia. Legal Medicine (Tokyo, Japan), 12, 104-107. http://dx.doi.org/10.1016/j.legalmed.2009.10.007