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MBE Advance Access published online on June 8, 2005
Molecular Biology and Evolution, doi:10.1093/molbev/msi185
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© The Author 2005. 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@oupjournals.org
Accepted June 1, 2005

Research Article

High-Resolution Phylogenetic Analysis of Southeastern Europe (SEE) Traces Major Episodes of Paternal Gene Flow Among Slavic Populations

Marijana Pericic 1* *, Lovorka Barac Lauc 1 *, Irena Martinovic Klaric 1, Siiri Rootsi 2, Branka Janicijevic 1, Igor Rudan 3, Rifet Terzic 4, Ivanka Colak 5, Ante Kvesic 5, Dan Popovic 1, Ana Sijacki 6, Ibrahim Behluli 7, Dobrivoje Ðorðevic 8, Ljudmila Efremovska 8, Ðorðe D. Bajec 6, Branislav D. Stefanovic 6, Richard Villems 2, and Pavao Rudan 1

1 Institute for Anthropological Research, Zagreb, Croatia
2 Estonian Biocentre, University of Tartu, Tartu, Estonia
3 School of Public Health Andrija Stampar, University of Zagreb Medical School, Zagreb, Croatia; University of Edinburgh Medical School, Edinburgh, Scotland
4 Medical Faculty, University of Tuzla, Tuzla, Bosnia and Herzegovina
5 Clinical Hospital Center "Bijeli Brijeg", Mostar, Bosnia and Herzegovina
6 Emergency Unit of Clinical Center of Serbia, Belgrade, Serbia and Montenegro
7 Medical Faculty, University of Prishtina, Prishtina, Kosovo
8 Medical Faculty, University of Skopje, Skopje, Macedonia

* To whom correspondence should be addressed.
Marijana Pericic, E-mail: mpericic{at}luka.inantro.hr


  Abstract

The extent and nature of SEE paternal genetic contribution to European genetic landscape was explored based on a high-resolution Y chromosome analysis involving 681 males from 7 populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly, Slavic paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26), and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-LGM R1a expansion from east to west, the YD-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern and southeastern Europe and a rather weak extent of E3b1 diffusion towards regions nowadays occupied by Slavic speaking populations.

Keywords: phylogenetic analysis; Y-chromosomal binary haplogroups; Southeastern Europe (SEE).

*The first two authors contributed equally to this study.


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