Advertisement

International Journal of Legal Medicine

, Volume 126, Issue 4, pp 497–503 | Cite as

Bulgarians vs the other European populations: a mitochondrial DNA perspective

  • Sena Karachanak
  • Valeria Carossa
  • Desislava Nesheva
  • Anna Olivieri
  • Maria Pala
  • Baharak Hooshiar Kashani
  • Viola Grugni
  • Vincenza Battaglia
  • Alessandro Achilli
  • Yordan Yordanov
  • Angel S. Galabov
  • Ornella Semino
  • Draga Toncheva
  • Antonio Torroni
Original Article

Abstract

To define the matrilineal relationships between Bulgarians and other European populations, we have evaluated the mitochondrial DNA (mtDNA) variation in a sample of 855 Bulgarian subjects from the mtDNA perspective. The molecular survey was performed by sequencing ∼750 bp of the control region, which resulted in 557 different haplotypes, and by a subsequent restriction fragment length polymorphism analysis to confirm haplogroup/subhaplogroup affiliation. The classification was carried out according to the most updated criteria as reported by van Oven and Kayser (Hum Mutat 30:386–394, 2009), allowing the identification of 45 mitochondrial clades. The observed pattern of mtDNA variation indicates that the Bulgarian mitochondrial pool is geographically homogeneous across the country, and that is characterized by an overall extremely high frequency of western Eurasian lineages. In the principal component analysis, Bulgarians locate in an intermediate position between Eastern European and Mediterranean populations, which is in agreement with historical events. Thus, while the Mediterranean legacy could be attributed to the Thracians, indigenous people that firstly inhabited the Balkans, the Eastern contribution is likely due to the Proto-Bulgarians originating from the Middle East and to the Slavs migrating from northeast Europe.

Keywords

Human mitochondrial DNA Haplogroup Bulgarians Origin of Europeans 

Notes

Acknowledgements

We are grateful to all the donors for providing blood samples and to R. Stoykov, M.D., and the local staff of the Military Blood Transfusion Center at the Military Medical Academy in Sofia chaired by Prof. S. Tonev for their help during the blood sample collection. We thank Prof. P. Dobrev for their useful comments and Mrs. Maria Teresa Pozzi for the graphical help. This research received financial support from Fondazione Alma Mater Ticinensis (to AT and OS), the Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2009 (to AT, OS e AA), FIRB-Futuro in Ricerca 2008 (to AA and AO), and National Science Fund of Bulgaria, project “Characterization of the anthropo-genetic identity of Bulgarians”, contract number DO 02-110/22.05.2009.

Ethical standards

The study was approved by the Bioethics Committee of the University of Pavia, Board minutes of the 5th of October 2010.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Supplementary material

414_2011_589_MOESM1_ESM.xls (155 kb)
Table S1 List of mitochondrial haplotypes found in the Bulgarian sample (XLS 155 kb)
414_2011_589_MOESM2_ESM.xls (28 kb)
Table S2 Absolute frequencies of mtDNA haplogroups and subhaplogroups in the 42 populations included in the PCA (XLS 28 kb)

References

  1. 1.
    van Oven M, Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30:386–394. www.phylotree.org/tree/main.htm Google Scholar
  2. 2.
    Dobrev PD (1994) The world of the Proto-Bulgarians: truths, delusions. IKK “Slavika–RM”, SofiaGoogle Scholar
  3. 3.
    Dobrev PD (2005) The golden core of the Bulgarian antiquity. Tangra TanNakRa IK, SofiaGoogle Scholar
  4. 4.
    Haefs H (2009) Das goldene Reich der Pamir-Bulgaren an Donau und Wardar. Books on Demand, NordtsedtGoogle Scholar
  5. 5.
    Torroni A, Achilli A, Macaulay V, Richards M, Bandelt H-J (2006) Harvesting the fruit of the human mtDNA tree. Trends Genet 22:339–345PubMedCrossRefGoogle Scholar
  6. 6.
    Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L (1996) From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks. Ann Hum Genet 60:35–49PubMedCrossRefGoogle Scholar
  7. 7.
    Richards M, Macaulay V, Hickey E, Vega E, Sykes B et al (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251–1276PubMedGoogle Scholar
  8. 8.
    Andrews RM, Kubacka I, Chinnery PF, Lightowlers R, Turnbull D et al (1999) Reanalysis, revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147PubMedCrossRefGoogle Scholar
  9. 9.
    Scozzari R, Torroni A, Semino O, Sirugo G, Brega A et al (1988) Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms. Am J Hum Genet 43:534–544PubMedGoogle Scholar
  10. 10.
    Librado P, Rozas J (2009) DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics 25:1451–1452PubMedCrossRefGoogle Scholar
  11. 11.
    Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinf Online 1:47–50Google Scholar
  12. 12.
    Soares P, Ermini L, Thomson N, Mormina M, Rito T et al (2009) Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet 84:740–759PubMedCrossRefGoogle Scholar
  13. 13.
    Kong QP, Bandelt H-J, Sun C, Yao YG, Salas A et al (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15:2076–2086PubMedCrossRefGoogle Scholar
  14. 14.
    Kivisild T, Shen P, Wall DP, Do B, Sung R et al (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172:373–387PubMedCrossRefGoogle Scholar
  15. 15.
    Olivieri A, Achilli A, Pala M, Battaglia V, Fornarino S et al (2006) The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa. Science 314:1767–1770PubMedCrossRefGoogle Scholar
  16. 16.
    Richards M, Macaulay V, Torroni A, Bandelt H-J (2002) In search of geographical patterns in European mitochondrial DNA. Am J Hum Genet 71:1168–1117PubMedCrossRefGoogle Scholar
  17. 17.
    Roostalu U, Kutuev I, Loogväli E-L, Metspalu E, Tambets K et al (2007) Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective. Mol Biol Evol 24:436–448PubMedCrossRefGoogle Scholar
  18. 18.
    Loogvali EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T et al (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21:2012–2021PubMedCrossRefGoogle Scholar
  19. 19.
    Behar DM, Metspalu E, Kivisild T, Rosset S, Tzur S et al (2008) Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora. PLoS One 3:e2062PubMedCrossRefGoogle Scholar
  20. 20.
    Torroni A, Bandelt H-J, Macaulay V, Richards M, Cruciani F et al (2001) A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet 69:844–852PubMedCrossRefGoogle Scholar
  21. 21.
    Macaulay V, Richards M, Hickey E, Vega E, Cruciani F et al (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232–249PubMedCrossRefGoogle Scholar
  22. 22.
    Brandstätter A, Zimmermann B, Wagner J, Gobel T, Rock AW et al (2008) Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East. BMC Evol Biol 8:191PubMedCrossRefGoogle Scholar
  23. 23.
    Soares P, Achilli A, Semino O, Davies W, Macaulay V et al (2010) The archaeogenetics of Europe. Curr Biol 20:174–183CrossRefGoogle Scholar
  24. 24.
    Pala M, Achilli A, Olivieri A, Kashani BH, Perego UA et al (2009) Mitochondrial haplogroup U5b3: a distant echo of the Epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 84:814–821PubMedCrossRefGoogle Scholar
  25. 25.
    Gonzalez AM, Garcia O, Larruga JM, Cabrera VM (2006) The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country. BMC Genomics 7:124PubMedCrossRefGoogle Scholar
  26. 26.
    Achilli A, Olivieri A, Pala M, Metspalu E, Fornarino S et al (2007) Mitochondrial DNA variation of modern Tuscans supports the Near Eastern origin of Etruscans. Am J Hum Genet 80:759–768PubMedCrossRefGoogle Scholar
  27. 27.
    Coudray C, Olivieri A, Achilli A, Pala M, Melhaoui M et al (2009) The complex, diversified mitochondrial gene pool of Berber populations. Ann Hum Genet 73:196–214PubMedCrossRefGoogle Scholar
  28. 28.
    Haak W, Forster P, Bramanti B, Matsumura S, Brandt G et al (2005) Ancient DNA from the first European farmers in 7500-year-old Neolithic sites. Science 310:1016–1018PubMedGoogle Scholar
  29. 29.
    Palanichamy MG, Zhang CL, Mitra B, Malyarchuk B, Derenko M et al (2010) Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers. BMC Evol Biol 10:304PubMedGoogle Scholar
  30. 30.
    Derenko M, Malyarchuk B, Grzybowski T, Denisova G, Dambueva I et al (2007) Phylogeographic analysis of mitochondrial DNA in northern Asian populations. Am J Hum Genet 81:1025–1041PubMedCrossRefGoogle Scholar
  31. 31.
    Gresham D, Morar B, Underhill PA, Passarino G, Lin AA et al (2001) Origins and divergence of the Roma (gypsies). Am J Hum Genet 69:1314–1331PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Sena Karachanak
    • 1
    • 2
  • Valeria Carossa
    • 2
  • Desislava Nesheva
    • 1
  • Anna Olivieri
    • 2
  • Maria Pala
    • 2
  • Baharak Hooshiar Kashani
    • 2
  • Viola Grugni
    • 2
  • Vincenza Battaglia
    • 2
  • Alessandro Achilli
    • 3
  • Yordan Yordanov
    • 4
  • Angel S. Galabov
    • 5
  • Ornella Semino
    • 2
  • Draga Toncheva
    • 1
  • Antonio Torroni
    • 2
  1. 1.Department of Medical GeneticsMedical University of SofiaSofiaBulgaria
  2. 2.Dipartimento di Genetica e MicrobiologiaUniversità di PaviaPaviaItaly
  3. 3.Dipartimento di Biologia Cellulare e AmbientaleUniversità di PerugiaPerugiaItaly
  4. 4.Institute of Experimental Morphology and Anthropology with MuseumBulgarian Academy of SciencesSofiaBulgaria
  5. 5.The Stephan Angeloff Institute of MicrobiologyBulgarian Academy of SciencesSofiaBulgaria

Personalised recommendations