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MBE Advance Access published online on May 13, 2008
Molecular Biology and Evolution, doi:10.1093/molbev/msn114
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© The Author 2008. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Mitochondrial DNA phylogeny in Eastern and Western Slavs

B. Malyarchuk1,*, T. Grzybowski2, M. Derenko1, M. Perkova1, T. Vanecek3, J. Lazur4, P. Gomolcak5 and I. Tsybovsky6

1 Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
2 The Nicolaus Copernicus University, Ludwik Rydygier Collegium Medicum, Institute of Forensic Medicine, Department of Molecular and Forensic Genetics, Bydgoszcz, Poland
3 Department of Pathology, Medical Faculty Hospital, Charles University, Pilsen, Czech Republic
4 Department of Laboratory Medicine, LABMED, Kosice, Slovakia
5 Institute of Pathology, Slovak Medical University, Bratislava, Slovakia
6 Institute of Problems of Criminalistics and Forensic Expertise, Minsk, Belarus

* Correspondence: Boris Malyarchuk, Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Portovaya str., 18, Magadan, 685000, Russia, Tel: +7 4132 63 11 64, Fax: +7 4132 63 44 63, e-mail: malyarchuk{at}ibpn.ru

Received for publication March 14, 2008. Revision received April 29, 2008. Accepted for publication May 7, 2008.

To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in Eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about 2000 control-region sequences sampled in Eastern (Russians, Belorussians, Ukrainians) and Western (Poles, Czechs and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described only partially. Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times (~ 12,000-19,000 YBP) in Eastern Europe. In addition, an ancient connection between the Caucasus/Europe and India has been revealed by analysis of haplogroup R1 diversity, with a split between the Indian and Caucasus/European R1a lineages occurring about 16,500 years ago. Meanwhile, some mtDNA subgroups detected in Slavs (such as U4a2a, U4a2*, HV3a, R1a1) are definitely younger being dated between 6,400-8,200 YBP. However, robust age estimations appear to be problematic due to the high ratios of non-synonymous to synonymous substitutions found in young mtDNA subclusters.

Key Words: human mitochondrial DNA • complete genome sequencing • population genetics • molecular phylogeography • Eastern Europe • Slavonic populations


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