TY - JOUR
T1 - Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration
AU - Balanovsky, Oleg
AU - Gurianov, Vladimir
AU - Zaporozhchenko, Valery
AU - Balaganskaya, Olga
AU - Urasin, Vadim
AU - Zhabagin, Maxat
AU - Grugni, Viola
AU - Canada, Rebekah
AU - Al-Zahery, Nadia
AU - Raveane, Alessandro
AU - Wen, Shao Qing
AU - Yan, Shi
AU - Wang, X.
AU - Zalloua, Pierre A.
AU - Marafi, Abdullah
AU - Koshel, Sergey
AU - Semino, Ornella
AU - Tyler-Smith, Chris
AU - Balanovska, Elena
N1 - Funding Information:
This study received primary support from the Russian Science Foundation grant 14-14-00827 to OB and VZ. CTS was supported by The Wellcome Trust (098051). OS was supported by the University of Pavia strategic theme ?Towards a governance model for international migration: an interdisciplinary and diachronic perspective? (MIGRAT-IN-G) and the Italian Ministry of Education, University and Research: Progetti Ricerca Interesse Nazionale 2012. The publication cost was covered by the RSF grant and Presidium RAS Programme ?Gene Pool Dynamics?.
Publisher Copyright:
© 2017 The Author(s).
PY - 2017/2/7
Y1 - 2017/2/7
N2 - 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.
AB - 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.
KW - Ashkenazi
KW - Gene geography
KW - Genetic genealogy
KW - Haplogroup Q
KW - Phylogeography
KW - Population genetics
KW - Y-chromosome
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U2 - 10.1186/s12862-016-0870-2
DO - 10.1186/s12862-016-0870-2
M3 - Article
AN - SCOPUS:85011675512
VL - 17
SP - 1
EP - 15
JO - BMC Evolutionary Biology
JF - BMC Evolutionary Biology
SN - 1471-2148
M1 - 18
ER -