title: Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Vavilov Institute of General Genetics, Moscow, Russia. balanovsky@inbox.ru.|Research Centre for Medical Genetics, Moscow, Russia. balanovsky@inbox.ru.
authors.forename: Oleg
authors.initials: O
authors.lastname: Balanovsky
authors.affiliation: Vavilov Institute of General Genetics, Moscow, Russia.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Gurianov
authors.affiliation: Vavilov Institute of General Genetics, Moscow, Russia.|Research Centre for Medical Genetics, Moscow, Russia.
authors.forename: Valery
authors.initials: V
authors.lastname: Zaporozhchenko
authors.affiliation: Vavilov Institute of General Genetics, Moscow, Russia.
authors.forename: Olga
authors.initials: O
authors.lastname: Balaganskaya
authors.affiliation: YFull service, Moscow, Russia.
authors.forename: Vadim
authors.initials: V
authors.lastname: Urasin
authors.affiliation: National Laboratory Astana, Nazarbayev University, Astana, Republic of Kazakhstan.
authors.forename: Maxat
authors.initials: M
authors.lastname: Zhabagin
authors.affiliation: Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
authors.forename: Viola
authors.initials: V
authors.lastname: Grugni
authors.affiliation: Gene by Gene, Ltd, Houston, USA.
authors.forename: Rebekah
authors.initials: R
authors.lastname: Canada
authors.affiliation: Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
authors.forename: Nadia
authors.initials: N
authors.lastname: Al-Zahery
authors.affiliation: Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Raveane
authors.affiliation: Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Shao-Qing
authors.initials: SQ
authors.lastname: Wen
authors.affiliation: Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.
authors.forename: Shi
authors.initials: S
authors.lastname: Yan
authors.affiliation: Department of Criminal Investigation, Xuanwei Public Security Bureau, Xuanwei, China.
authors.forename: Xianpin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Lebanese American University, Beirut, Lebanon.
authors.forename: Pierre
authors.initials: P
authors.lastname: Zalloua
authors.affiliation: Full Genomes Corporation, Rockville, MD, USA.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Marafi
authors.affiliation: Faculty of Geography, Lomonosov Moscow State University, Moscow, Russia.
authors.forename: Sergey
authors.initials: S
authors.lastname: Koshel
authors.affiliation: Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy.
authors.forename: Ornella
authors.initials: O
authors.lastname: Semino
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.affiliation: Vavilov Institute of General Genetics, Moscow, Russia.|Research Centre for Medical Genetics, Moscow, Russia.
authors.forename: Elena
authors.initials: E
authors.lastname: Balanovska
mesh_terms: D001208:Asia; D041322:Chromosomes, Human, Y; D063045:Crowdsourcing; D005006:Ethnicity / Q000235:genetics; D005060:Europe; D008040:Genetic Linkage; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D058974:Phylogeography
keywords: Ashkenazi; Gene geography; Genetic genealogy; Haplogroup Q; Phylogeography; Population genetics; Y-chromosome