Oleg Balanovsky1,2, Vladimir Gurianov3, Valery Zaporozhchenko3,4, Olga Balaganskaya3, Vadim Urasin5, Maxat Zhabagin6, Viola Grugni7, Rebekah Canada8, Nadia Al-Zahery7, Alessandro Raveane7, Shao-Qing Wen9, Shi Yan9, Xianpin Wang10, Pierre Zalloua11, Abdullah Marafi12, Sergey Koshel13, Ornella Semino7, Chris Tyler-Smith14, Elena Balanovska3,4. 1. Vavilov Institute of General Genetics, Moscow, Russia. balanovsky@inbox.ru. 2. Research Centre for Medical Genetics, Moscow, Russia. balanovsky@inbox.ru. 3. Vavilov Institute of General Genetics, Moscow, Russia. 4. Research Centre for Medical Genetics, Moscow, Russia. 5. YFull service, Moscow, Russia. 6. National Laboratory Astana, Nazarbayev University, Astana, Republic of Kazakhstan. 7. Department of Biology and Biotechnology "L. Spallanzani", University of Pavia, Pavia, Italy. 8. Gene by Gene, Ltd, Houston, USA. 9. Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China. 10. Department of Criminal Investigation, Xuanwei Public Security Bureau, Xuanwei, China. 11. Lebanese American University, Beirut, Lebanon. 12. Full Genomes Corporation, Rockville, MD, USA. 13. Faculty of Geography, Lomonosov Moscow State University, Moscow, Russia. 14. The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
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.
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.
Authors: O Semino; G Passarino; P J Oefner; A A Lin; S Arbuzova; L E Beckman; G De Benedictis; P Francalacci; A Kouvatsi; S Limborska; M Marcikiae; A Mika; B Mika; D Primorac; A S Santachiara-Benerecetti; L L Cavalli-Sforza; P A Underhill Journal: Science Date: 2000-11-10 Impact factor: 47.728
Authors: Doron M Behar; Daniel Garrigan; Matthew E Kaplan; Zahra Mobasher; Dror Rosengarten; Tatiana M Karafet; Lluis Quintana-Murci; Harry Ostrer; Karl Skorecki; Michael F Hammer Journal: Hum Genet Date: 2004-01-22 Impact factor: 4.132
Authors: Paula B Paz Sepúlveda; Andrea Constanza Mayordomo; Camila Sala; Ezequiel Jorge Sosa; Jonathan Javier Zaiat; Mariela Cuello; Marisol Schwab; Daniela Rodríguez Golpe; Eliana Aquilano; María Rita Santos; José Edgardo Dipierri; Emma L Alfaro Gómez; Claudio M Bravi; Marina Muzzio; Graciela Bailliet Journal: PLoS One Date: 2022-08-17 Impact factor: 3.752