Distribution of East Eurasian Y-Chromosome and Mitochondrial DNA Haplogroups across Eurasia: Insights into the Genetic Ancestry of Bulgarians
Affiliation(s)
1 Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria. 2 The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, Sofia, Bulgaria.
1 Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria. 2 The Stephan Angeloff Institute of Microbiology, Bulgarian Academy of Sciences, Sofia, Bulgaria.
ABSTRACT
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.
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.
Cite this paper
Karachanak-Yankova, S. , Nesheva, D. , Galabov, A. and Toncheva, D. (2015) Distribution of East Eurasian Y-Chromosome and Mitochondrial DNA Haplogroups across Eurasia: Insights into the Genetic Ancestry of Bulgarians. Advances in Anthropology, 5, 205-266. doi: 10.4236/aa.2015.54019.
Karachanak-Yankova, S. , Nesheva, D. , Galabov, A. and Toncheva, D. (2015) Distribution of East Eurasian Y-Chromosome and Mitochondrial DNA Haplogroups across Eurasia: Insights into the Genetic Ancestry of Bulgarians. Advances in Anthropology, 5, 205-266. doi: 10.4236/aa.2015.54019.
References
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http://dx.doi.org/10.1002/ajpa.22670 [7] Derenko, M., Malyarchuk, B., Grzybowski, T., Denisova, G., Rogalla, U., Perkova, M. et al. (2010). Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia. PLoS ONE, 5, e15214.
http://dx.doi.org/10.1371/journal.pone.0015214 [8] 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 [9] Grzybowski, T., Malyarchuk, B. A., Derenko, M. V., Perkova, M. A., Bednarek, J., & Wozniak, M. (2007). Complex Interactions of the Eastern and Western Slavic Populations with Other European Groups as Revealed by Mitochondrial DNA Analysis. Forensic Science International: Genetics, 1, 141-147.
http://dx.doi.org/10.1016/j.fsigen.2007.01.010 [10] Gubina, M. A., Girgol’kau, L. A., Babenko, V. N., Damba, L. D., Maksimov, V. N., & Voevoda, M. I. (2013). Mitochondrial DNA Polymorphism in Populations of Aboriginal Residents of the Far East. Russian Journal of Genetics, 49, 751-764.
http://dx.doi.org/10.1134/S1022795413070065 [11] 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 [12] Irwin, J., Egyed, B., Saunier, J., Szamosi, G., O’Callaghan, J., Padar, Z., & Parsons, T. (2007). Hungarian mtDNA Population Databases from Budapest and the Baranya County Roma. International Journal of Legal Medicine, 121, 377-383.
http://dx.doi.org/10.1007/s00414-006-0128-4 [13] Irwin, J. A., Ikramov, A., Saunier, J., Bodner, M., Amory, S., Rock, A. et al. (2010). The mtDNA Composition of Uzbekistan: A Microcosm of Central Asian Patterns. International Journal of Legal Medicine, 124, 195-204.
http://dx.doi.org/10.1007/s00414-009-0406-z [14] Irwin, J., Saunier, J., Strouss, K., Paintner, C., Diegoli, T., Sturk, K. et al. (2008). Mitochondrial Control Region Sequences from Northern Greece and Greek Cypriots. International Journal of Legal Medicine, 122, 87-89.
http://dx.doi.org/10.1007/s00414-007-0173-7 [15] Karachanak, S., Carossa, V., Nesheva, D., Olivieri, A., Pala, M., Hooshiar Kashani, B. et al. (2012). Bulgarians vs the Other European Populations: A Mitochondrial DNA Perspective. International Journal of Legal Medicine, 126, 497-503.
http://dx.doi.org/10.1007/s00414-011-0589-y [16] Kushniarevich, A., Sivitskaya, L., Danilenko, N., Novogrodskii, T., Tsybovsky, I., Kiseleva, A. et al. (2013). Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool. PLoS ONE, 8, e66499.
http://dx.doi.org/10.1371/journal.pone.0066499 [17] 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 [18] 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 [19] Malyarchuk, B. A., Vanecek, T., Perkova, M. A., Derenko, M. V., & Sip, M. (2006). Mitochondrial DNA Variability in the Czech Population, with Application to the Ethnic History of Slavs. Human Biology, 78, 681-696.
http://dx.doi.org/10.1353/hub.2007.0014 [20] Mielnik-Sikorska, M., Daca, P., Malyarchuk, B., Derenko, M., Skonieczna, K., Perkova, M. et al. (2013). The History of Slavs Inferred from Complete Mitochondrial Genome Sequences. PLoS ONE, 8, e54360.
http://dx.doi.org/10.1371/journal.pone.0054360 [21] Mikkelsen, M., Sorensen, E., Rasmussen, E. M., & Morling, N. (2010). Mitochondrial DNA HV1 and HV2 Variation in Danes. Forensic Science International: Genetics, 4, e87-88.
http://dx.doi.org/10.1016/j.fsigen.2009.07.007 [22] 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 [23] Turchi, C., Buscemi, L., Previdere, C., Grignani, P., Brandstatter, A., Achilli, A. et al. (2008). Italian Mitochondrial DNA Database: Results of a Collaborative Exercise and Proficiency Testing. International Journal of Legal Medicine, 122, 199-204.
http://dx.doi.org/10.1007/s00414-007-0207-1 [24] Yao, Y. G., Kong, Q. P., Wang, C. Y., Zhu, C. L., & Zhang, Y. P. (2004). Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China. Molecular Biology and Evolution, 21, 2265-2280.
http://dx.doi.org/10.1093/molbev/msh238 [25] 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 [26] Zheng, H.-X., Yan, S., Qin, Z.-D., & Jin, L. (2012). MtDNA Analysis of Global Populations Support That Major Population Expansions Began before Neolithic Time. Scientific Reports, 2, 745.
http://dx.doi.org/10.1038/srep00745 [27] 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
[1] 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 [2] álvarez-Iglesias, V., Mosquera-Miguel, A., Cerezo, M., Quintáns, B., Zarrabeitia, M. T., Cuscó, I. et al. (2009). New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0. PLoS ONE, 4, e5112.
http://dx.doi.org/10.1371/journal.pone.0005112 [3] Brandstatter, A., Klein, R., Duftner, N., Wiegand, P., & Parson, W. (2006). Application of a Quasi-Median Network Analysis for the Visualization of Character Conflicts to a Population Sample of Mitochondrial DNA Control Region Sequences from Southern Germany (Ulm). International Journal of Legal Medicine, 120, 310-314.
http://dx.doi.org/10.1007/s00414-006-0114-x [4] 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 [5] Comas, D., Plaza, S., Wells, R. S., Yuldaseva, N., Lao, O., Calafell, F., & Bertranpetit, J. (2004). Admixture, Migrations, and Dispersals in Central Asia: Evidence from Maternal DNA Lineages. European Journal of Human Genetics, 12, 495- 504.
http://dx.doi.org/10.1038/sj.ejhg.5201160 [6] 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 [7] Derenko, M., Malyarchuk, B., Grzybowski, T., Denisova, G., Rogalla, U., Perkova, M. et al. (2010). Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia. PLoS ONE, 5, e15214.
http://dx.doi.org/10.1371/journal.pone.0015214 [8] 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 [9] Grzybowski, T., Malyarchuk, B. A., Derenko, M. V., Perkova, M. A., Bednarek, J., & Wozniak, M. (2007). Complex Interactions of the Eastern and Western Slavic Populations with Other European Groups as Revealed by Mitochondrial DNA Analysis. Forensic Science International: Genetics, 1, 141-147.
http://dx.doi.org/10.1016/j.fsigen.2007.01.010 [10] Gubina, M. A., Girgol’kau, L. A., Babenko, V. N., Damba, L. D., Maksimov, V. N., & Voevoda, M. I. (2013). Mitochondrial DNA Polymorphism in Populations of Aboriginal Residents of the Far East. Russian Journal of Genetics, 49, 751-764.
http://dx.doi.org/10.1134/S1022795413070065 [11] 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 [12] Irwin, J., Egyed, B., Saunier, J., Szamosi, G., O’Callaghan, J., Padar, Z., & Parsons, T. (2007). Hungarian mtDNA Population Databases from Budapest and the Baranya County Roma. International Journal of Legal Medicine, 121, 377-383.
http://dx.doi.org/10.1007/s00414-006-0128-4 [13] Irwin, J. A., Ikramov, A., Saunier, J., Bodner, M., Amory, S., Rock, A. et al. (2010). The mtDNA Composition of Uzbekistan: A Microcosm of Central Asian Patterns. International Journal of Legal Medicine, 124, 195-204.
http://dx.doi.org/10.1007/s00414-009-0406-z [14] Irwin, J., Saunier, J., Strouss, K., Paintner, C., Diegoli, T., Sturk, K. et al. (2008). Mitochondrial Control Region Sequences from Northern Greece and Greek Cypriots. International Journal of Legal Medicine, 122, 87-89.
http://dx.doi.org/10.1007/s00414-007-0173-7 [15] Karachanak, S., Carossa, V., Nesheva, D., Olivieri, A., Pala, M., Hooshiar Kashani, B. et al. (2012). Bulgarians vs the Other European Populations: A Mitochondrial DNA Perspective. International Journal of Legal Medicine, 126, 497-503.
http://dx.doi.org/10.1007/s00414-011-0589-y [16] Kushniarevich, A., Sivitskaya, L., Danilenko, N., Novogrodskii, T., Tsybovsky, I., Kiseleva, A. et al. (2013). Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool. PLoS ONE, 8, e66499.
http://dx.doi.org/10.1371/journal.pone.0066499 [17] 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 [18] 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 [19] Malyarchuk, B. A., Vanecek, T., Perkova, M. A., Derenko, M. V., & Sip, M. (2006). Mitochondrial DNA Variability in the Czech Population, with Application to the Ethnic History of Slavs. Human Biology, 78, 681-696.
http://dx.doi.org/10.1353/hub.2007.0014 [20] Mielnik-Sikorska, M., Daca, P., Malyarchuk, B., Derenko, M., Skonieczna, K., Perkova, M. et al. (2013). The History of Slavs Inferred from Complete Mitochondrial Genome Sequences. PLoS ONE, 8, e54360.
http://dx.doi.org/10.1371/journal.pone.0054360 [21] Mikkelsen, M., Sorensen, E., Rasmussen, E. M., & Morling, N. (2010). Mitochondrial DNA HV1 and HV2 Variation in Danes. Forensic Science International: Genetics, 4, e87-88.
http://dx.doi.org/10.1016/j.fsigen.2009.07.007 [22] 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 [23] Turchi, C., Buscemi, L., Previdere, C., Grignani, P., Brandstatter, A., Achilli, A. et al. (2008). Italian Mitochondrial DNA Database: Results of a Collaborative Exercise and Proficiency Testing. International Journal of Legal Medicine, 122, 199-204.
http://dx.doi.org/10.1007/s00414-007-0207-1 [24] Yao, Y. G., Kong, Q. P., Wang, C. Y., Zhu, C. L., & Zhang, Y. P. (2004). Different Matrilineal Contributions to Genetic Structure of Ethnic Groups in the Silk Road Region in China. Molecular Biology and Evolution, 21, 2265-2280.
http://dx.doi.org/10.1093/molbev/msh238 [25] 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 [26] Zheng, H.-X., Yan, S., Qin, Z.-D., & Jin, L. (2012). MtDNA Analysis of Global Populations Support That Major Population Expansions Began before Neolithic Time. Scientific Reports, 2, 745.
http://dx.doi.org/10.1038/srep00745 [27] 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