Abstract
Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastward. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.
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Acknowledgements
We thank all the men who donated DNA samples used in this study. This research was supported by the European Union European Regional Development Fund through the Centre of Excellence in Genomics, Estonian Biocentre and Tartu University, EC Grant ECOGENE (205419) to Estonian Biocentre, Estonian Science Foundation Grant No. 7445 (to SR) and Estonian Basic Research Grant SF 0270177s08 (to RV), Croatian Ministry of Science, Education and Sports Grant 196-1962766-2751 (to PR), grants of the RAS Programs ‘Origin and Evolution of the Biosphere’ and ‘Molecular and Cell Biology’ to LZ, a grant to OS by V Compagnia di San Paolo and Progetti di Ricerca Interesse Nazionale 2007 (Italian Ministry of the University), and the grant of the Ministry of Education of the Slovak Republic and of Slovak Academy of Sciences – VEGA No. 1/3245/06 to MB. QA, AM and SQM were supported by The Wellcome Trust. We thank Scott R Woodward and the Sorenson Molecular Genealogy Foundation for providing support for AAL and PAU.
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Underhill, P., Myres, N., Rootsi, S. et al. Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur J Hum Genet 18, 479–484 (2010). https://doi.org/10.1038/ejhg.2009.194
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DOI: https://doi.org/10.1038/ejhg.2009.194
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