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

Research output: Contribution to journalArticle

6 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
Pages (from-to)1-15
Number of pages15
JournalBMC Evolutionary Biology
Volume17
DOIs
Publication statusPublished - Feb 7 2017

Fingerprint

phylogeography
Y chromosome
chromosome
geneticists
Central Asia
Jews
West Asia
Mesolithic
genealogy
Bronze Age
American Indians
South Asia
Paleolithic
history
human population
genotyping
linkage (genetics)
citizen
science
phylogenetics

Keywords

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

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics

Cite this

Balanovsky, O., Gurianov, V., Zaporozhchenko, V., Balaganskaya, O., Urasin, V., Zhabagin, M., ... Balanovska, E. (2017). Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration. BMC Evolutionary Biology, 17, 1-15. https://doi.org/10.1186/s12862-016-0870-2

Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration. / Balanovsky, Oleg; Gurianov, Vladimir; Zaporozhchenko, Valery; Balaganskaya, Olga; Urasin, Vadim; Zhabagin, Maxat; Grugni, Viola; Canada, Rebekah; Al-Zahery, Nadia; Raveane, Alessandro; Wen, Shao Qing; Yan, Shi; Wang, X.; Zalloua, Pierre A.; Marafi, Abdullah; Koshel, Sergey; Semino, Ornella; Tyler-Smith, Chris; Balanovska, Elena.

In: BMC Evolutionary Biology, Vol. 17, 07.02.2017, p. 1-15.

Research output: Contribution to journalArticle

Balanovsky, O, Gurianov, V, Zaporozhchenko, V, Balaganskaya, O, Urasin, V, Zhabagin, M, Grugni, V, Canada, R, Al-Zahery, N, Raveane, A, Wen, SQ, Yan, S, Wang, X, Zalloua, PA, 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, vol. 17, pp. 1-15. https://doi.org/10.1186/s12862-016-0870-2
Balanovsky, Oleg ; Gurianov, Vladimir ; Zaporozhchenko, Valery ; Balaganskaya, Olga ; Urasin, Vadim ; Zhabagin, Maxat ; Grugni, Viola ; Canada, Rebekah ; Al-Zahery, Nadia ; Raveane, Alessandro ; Wen, Shao Qing ; Yan, Shi ; Wang, X. ; Zalloua, Pierre A. ; Marafi, Abdullah ; Koshel, Sergey ; Semino, Ornella ; Tyler-Smith, Chris ; Balanovska, Elena. / Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration. In: BMC Evolutionary Biology. 2017 ; Vol. 17. pp. 1-15.
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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.",
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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

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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.

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