Abstract
R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25 000 (95% CI: 21 300–29 000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800–6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.
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Acknowledgements
AAL thanks Ancestry DNA for support. PAU thanks CDB and Professor Michael Snyder for support. GDP was supported by the National Science Foundation Graduate Research Fellowship under Grant No. DGE-1147470. This work was supported by the European Union European Regional Development Fund through the Centre of Excellence in Genomics, by the Estonian Biocentre and the University of Tartu, by the European Commission grant 205419 ECOGENE to the EBC, by the Estonian Basic Research Grant SF 0270177s08 and by Institutional Research Funding from the Estonian Research Council IUT24-1. JS and TS were supported by the Croatian Ministry of Science, Education, and Sports grant Population structure of Croatia—anthropogenic approach (No. 196-1962766-2751 to PR). AKP was supported by European Social Fund's Doctoral Studies and Internationalisation Programme DoRa. VG and OS were supported by the Italian Ministry of the University: Progetti Ricerca Interesse Nazionale 2012. SNPs not previously submitted have been deposited to dbSNP (http://www.cbi.nlm.nih.gov/SNP/; ss947849426–947850190).
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PAU consulted for and has stock in, and CDB is on the advisory board of a project at 23andMe. CDB is on the scientific advisory boards of Personalis, Inc.; InVitae (formerly Locus Development, Inc.); and Ancestry DNA. The remaining authors declare no conflict of interest.
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Underhill, P., Poznik, G., Rootsi, S. et al. The phylogenetic and geographic structure of Y-chromosome haplogroup R1a. Eur J Hum Genet 23, 124–131 (2015). https://doi.org/10.1038/ejhg.2014.50
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DOI: https://doi.org/10.1038/ejhg.2014.50
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