Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia
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Y-chromosomal variation in West Asian populations has so far been studied in less detail than in the neighboring Europe. Here, we analyzed 598 Y-chromosomes from two West Asian subregions—Transcaucasia and the Armenian plateau—using 40 Y-SNPs and 17 Y-STRs and combined them with previously published data from the region. The West Asian populations fell into two clusters: upland populations from the Anatolian, Armenian and Iranian plateaus, and lowland populations from the Levant, Mesopotamia and the Arabian Peninsula. This geographic subdivision corresponds with the linguistic difference between Indo-European and Turkic speakers, on the one hand, and Semitic speakers, on the other. This subdivision could be traced back to the Neolithic epoch, when upland populations from the Anatolian and Iranian plateaus carried similar haplogroup spectra but did not overlap with lowland populations from the Levant. We also found that the initial gene pool of the Armenian motherland population has been well preserved in most groups of the Armenian Diaspora. In view of the contribution of West Asians to the autosomal gene pool of the steppe Yamnaya archaeological culture, we sequenced a large portion of the Y-chromosome in haplogroup R1b samples from present-day East European steppe populations. The ancient Yamnaya samples are located on the “eastern” R-GG400 branch of haplogroup R1b-L23, showing that the paternal descendants of the Yamnaya still live in the Pontic steppe and that the ancient Yamnaya population was not an important source of paternal lineages in present-day West Europeans.
We thank all sample donors whose participation made this study possible, and the Georgian church which approved and assisted in sampling in Georgia.
The Genographic Consortium includes: Li Jin, Hui Li, & Shilin Li (Fudan University, Shanghai, China); Pandikumar Swamikrishnan (IBM, Somers, New York, United States); Asif Javed, Laxmi Parida & Ajay K. Royyuru (IBM, Yorktown Heights, New York, United States); R. John Mitchell (La Trobe University, Melbourne, Victoria, Australia); Pierre A. Zalloua (Lebanese American University, Chouran, Beirut, Lebanon); Syama Adhikarla, ArunKumar, GaneshPrasad, Ramasamy Pitchappan, Arun Varatharajan Santhakumari, Kavitha Valampuri (Madurai Kamaraj University, Madurai, Tamil Nadu, India); R. Spencer Wells and Miguel G. Vilar (National Geographic Society, Washington, District of Columbia, United States); Himla Soodyall (National Health Laboratory Service, Johannesburg, South Africa); Elena Balanovska & Oleg Balanovsky (Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia); Chris Tyler-Smith (The Wellcome Trust Sanger Institute, Hinxton, United Kingdom); Fabrício R. Santos (Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil); Jaume Bertranpetit, Marc Haber, Marta Melé, & David Comas(Universitat Pompeu Fabra, Barcelona, Spain); Christina J. Adler, Alan Cooper, Clio S. I. Der Sarkissian & Wolfgang Haak (University of Adelaide, South Australia, Australia); Matthew E. Kaplan & Nirav C. Merchant (University of Arizona, Tucson, Arizona, United States); Colin Renfrew (University of Cambridge, Cambridge, United Kingdom); Andrew C. Clarke & Elizabeth A. Matisoo-Smith (University of Otago, Dunedin, New Zealand); Jill B. Gaieski & Theodore G. Schurr (University of Pennsylvania, Philadelphia, Pennsylvania, United States).
Compliance with ethical standards
All procedures performed in studies involving human participants were in accordance with the ethical standards of the Ethics Committee of the Research Centre for Medical Genetics, Moscow, Russia and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
This study received primary support from the Russian Science Foundation Grant 14-14-00827 (to OB, MC, AA, VZ), including data analysis and completing the paper. Y-chromosomal resequencing was done mainly using funding from the Historical Genetics lab in the Moscow Institute of Physics and Technology. Erzurum Armenian samples were genotyped with support from the Russian Foundation for Basic Research (Grant 16-36-00122 to MC), while the Hemsheni and Krasnodar Armenian samples were genotyped with support from the Russian Foundation for Basic Research (Grant 16-06-00364 to EP) and from the Genographic project. CTS was supported by The Wellcome Trust (098051).
Conflict of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
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