Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration

Oleg Balanovsky, Vladimir Gurianov, Valery Zaporozhchenko, Olga Balaganskaya, Vadim Urasin, Maxat Zhabagin, Viola Grugni, Rebekah Canada, Nadia Al-Zahery, Alessandro Raveane, Shao Qing Wen, Shi Yan, X. Wang, Pierre A. Zalloua, Abdullah Marafi, Sergey Koshel, Ornella Semino, Chris Tyler-Smith, Elena Balanovska

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9 Citations (Scopus)

Abstract

Background: The Y-chromosome haplogroup Q has three major branches: Q1, Q2, and Q3. Q1 is found in both Asia and the Americas where it accounts for about 90% of indigenous Native American Y-chromosomes; Q2 is found in North and Central Asia; but little is known about the third branch, Q3, also named Q1b-L275. Here, we combined the efforts of population geneticists and genetic genealogists to use the potential of full Y-chromosome sequencing for reconstructing haplogroup Q3 phylogeography and suggest possible linkages to events in population history. Results: We analyzed 47 fully sequenced Y-chromosomes and reconstructed the haplogroup Q3 phylogenetic tree in detail. Haplogroup Q3-L275, derived from the oldest known split within Eurasian/American haplogroup Q, most likely occurred in West or Central Asia in the Upper Paleolithic period. During the Mesolithic and Neolithic epochs, Q3 remained a minor component of the West Asian Y-chromosome pool and gave rise to five branches (Q3a to Q3e), which spread across West, Central and parts of South Asia. Around 3-4 millennia ago (Bronze Age), the Q3a branch underwent a rapid expansion, splitting into seven branches, some of which entered Europe. One of these branches, Q3a1, was acquired by a population ancestral to Ashkenazi Jews and grew within this population during the 1st millennium AD, reaching up to 5% in present day Ashkenazi. Conclusions: This study dataset was generated by a massive Y-chromosome genotyping effort in the genetic genealogy community, and phylogeographic patterns were revealed by a collaboration of population geneticists and genetic genealogists. This positive experience of collaboration between academic and citizen science provides a model for further joint projects. Merging data and skills of academic and citizen science promises to combine, respectively, quality and quantity, generalization and specialization, and achieve a well-balanced and careful interpretation of the paternal-side history of human populations.

Original languageEnglish
Article number18
Pages (from-to)1-15
Number of pages15
JournalBMC Evolutionary Biology
Volume17
DOIs
Publication statusPublished - Feb 7 2017

Keywords

  • Ashkenazi
  • Gene geography
  • Genetic genealogy
  • Haplogroup Q
  • Phylogeography
  • Population genetics
  • Y-chromosome

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics

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    Balanovsky, O., Gurianov, V., Zaporozhchenko, V., Balaganskaya, O., Urasin, V., Zhabagin, M., Grugni, V., Canada, R., Al-Zahery, N., Raveane, A., Wen, S. Q., Yan, S., Wang, X., Zalloua, P. A., Marafi, A., Koshel, S., Semino, O., Tyler-Smith, C., & Balanovska, E. (2017). Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration. BMC Evolutionary Biology, 17, 1-15. [18]. https://doi.org/10.1186/s12862-016-0870-2