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

被引:15
作者
Balanovsky, Oleg [1 ,2 ]
Gurianov, Vladimir [1 ]
Zaporozhchenko, Valery [1 ,2 ]
Balaganskaya, Olga [1 ]
Urasin, Vadim [3 ]
Zhabagin, Maxat [4 ]
Grugni, Viola [5 ]
Canada, Rebekah [6 ]
Al-Zahery, Nadia [5 ]
Raveane, Alessandro [5 ]
Wen, Shao-Qing [7 ]
Yan, Shi [7 ]
Wang, Xianpin [8 ]
Zalloua, Pierre [9 ]
Marafi, Abdullah [10 ]
Koshel, Sergey [11 ]
Semino, Ornella [5 ]
Tyler-Smith, Chris [12 ]
Balanovska, Elena [1 ,2 ]
机构
[1] Vavilov Inst Gen Genet, Moscow, Russia
[2] Res Ctr Med Genet, Moscow, Russia
[3] YFull Serv, Moscow, Russia
[4] Nazarbayev Univ, Natl Lab Astana, Astana, Kazakhstan
[5] Univ Pavia, Dept Biol & Biotechnol L Spallanzani, Pavia, Italy
[6] Gene Gene Ltd, Houston, TX USA
[7] Fudan Univ, Sch Life Sci, Key Lab Contemporary Anthropol, Minist Educ, Shanghai, Peoples R China
[8] Xuanwei Publ Secur Bur, Dept Criminal Invest, Xuanwei, Peoples R China
[9] Lebanese Amer Univ, Beirut, Lebanon
[10] Full Genomes Corp, Rockville, MD USA
[11] Lomonosov Moscow State Univ, Fac Geog, Moscow, Russia
[12] Wellcome Trust Sanger Inst, Wellcome Genome Campus, Hinxton, England
基金
俄罗斯科学基金会; 英国惠康基金;
关键词
Y-chromosome; Haplogroup Q; Population genetics; Genetic genealogy; Ashkenazi; Phylogeography; Gene geography; PATERNAL LINEAGES; MTDNA VARIATION; GENETIC LEGACY; DIVERSITY; MIGRATION; INSIGHTS; PATTERNS; DIFFERENTIATION; POPULATIONS; RESOLUTION;
D O I
10.1186/s12862-016-0870-2
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:1 / 15
页数:15
相关论文
共 77 条
[1]   The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula [J].
Adams, Susan M. ;
Bosch, Elena ;
Balaresque, Patricia L. ;
Ballereau, Stephane J. ;
Lee, Andrew C. ;
Arroyo, Eduardo ;
Lopez-Parra, Ana M. ;
Aler, Mercedes ;
Grifo, Marina S. Gisbert ;
Brion, Maria ;
Carracedo, Angel ;
Lavinha, Joao ;
Martinez-Jarreta, Begona ;
Quintana-Murci, Lluis ;
Picornell, Antonia ;
Ramon, Misericordia ;
Skorecki, Karl ;
Behar, Doron M. ;
Calafell, Francesc ;
Jobling, Mark A. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) :725-736
[2]   In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq [J].
Al-Zahery, Nadia ;
Pala, Maria ;
Battaglia, Vincenza ;
Grugni, Viola ;
Hamod, Mohammed A. ;
Kashani, Baharak Hooshiar ;
Olivieri, Anna ;
Torroni, Antonio ;
Santachiara-Benerecetti, Augusta S. ;
Semino, Ornella .
BMC EVOLUTIONARY BIOLOGY, 2011, 11
[3]   Population genomics of Bronze Age Eurasia [J].
Allentoft, Morten E. ;
Sikora, Martin ;
Sjogren, Karl-Goran ;
Rasmussen, Simon ;
Rasmussen, Morten ;
Stenderup, Jesper ;
Damgaard, Peter B. ;
Schroeder, Hannes ;
Ahlstrom, Torbjorn ;
Vinner, Lasse ;
Malaspinas, Anna-Sapfo ;
Margaryan, Ashot ;
Higham, Tom ;
Chivall, David ;
Lynnerup, Niels ;
Harvig, Lise ;
Baron, Justyna ;
Della Casa, Philippe ;
Dabrowski, Pawel ;
Duffy, Paul R. ;
Ebel, Alexander V. ;
Epimakhov, Andrey ;
Frei, Karin ;
Furmanek, Miroslaw ;
Gralak, Tomasz ;
Gromov, Andrey ;
Gronkiewicz, Stanislaw ;
Grupe, Gisela ;
Hajdu, Tamas ;
Jarysz, Radoslaw ;
Khartanovich, Valeri ;
Khokhlov, Alexandr ;
Kiss, Viktoria ;
Kolar, Jan ;
Kriiska, Aivar ;
Lasak, Irena ;
Longhi, Cristina ;
McGlynn, George ;
Merkevicius, Algimantas ;
Merkyte, Inga ;
Metspalu, Mait ;
Mkrtchyan, Ruzan ;
Moiseyev, Vyacheslav ;
Paja, Laszlo ;
Palfi, Gyoergy ;
Pokutta, Dalia ;
Pospieszny, Lukasz ;
Price, T. Douglas ;
Saag, Lehti ;
Sablin, Mikhail .
NATURE, 2015, 522 (7555) :167-+
[4]   Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations [J].
Badro, Danielle A. ;
Douaihy, Bouchra ;
Haber, Marc ;
Youhanna, Sonia C. ;
Salloum, Angelique ;
Ghassibe-Sabbagh, Michella ;
Johnsrud, Brian ;
Khazen, Georges ;
Matisoo-Smith, Elizabeth ;
Soria-Hernanz, David F. ;
Wells, R. Spencer ;
Tyler-Smith, Chris ;
Platt, Daniel E. ;
Zalloua, Pierre A. .
PLOS ONE, 2013, 8 (01)
[5]  
Balanovsky O., 2015, GENE POOL OF EUROPE
[6]  
Balanovsky OKS, 2014, VESTNIK MOSKOVSKO 23, V3, P1
[7]   Two sources of the Russian patrilineal heritage in their Eurasian context [J].
Balanovsky, Oleg ;
Rootsi, Siiri ;
Pshenichnov, Andrey ;
Kivisild, Toornas ;
Churnosov, Michail ;
Evseeva, Irina ;
Pocheshkhova, Elvira ;
Boldyreva, Margarita ;
Yankovsky, Nikolay ;
Balanovska, Elena ;
Villems, Richard .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :236-250
[8]   Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers [J].
Balanovsky, Oleg ;
Zhabagin, Maxat ;
Agdzhoyan, Anastasiya ;
Chukhryaeva, Marina ;
Zaporozhchenko, Valery ;
Utevska, Olga ;
Highnam, Gareth ;
Sabitov, Zhaxylyk ;
Greenspan, Elliott ;
Dibirova, Khadizhat ;
Skhalyakho, Roza ;
Kuznetsova, Marina ;
Koshel, Sergey ;
Yusupov, Yuldash ;
Nymadawa, Pagbajabyn ;
Zhumadilov, Zhaxybay ;
Pocheshkhova, Elvira ;
Haber, Marc ;
Zalloua, Pierre A. ;
Yepiskoposyan, Levon ;
Dybo, Anna ;
Tyler-Smith, Chris ;
Balanovska, Elena .
PLOS ONE, 2015, 10 (04)
[9]   Parallel Evolution of Genes and Languages in the Caucasus Region [J].
Balanovsky, Oleg ;
Dibirova, Khadizhat ;
Dybo, Anna ;
Mudrak, Oleg ;
Frolova, Svetlana ;
Pocheshkhova, Elvira ;
Haber, Marc ;
Platt, Daniel ;
Schurr, Theodore ;
Haak, Wolfgang ;
Kuznetsova, Marina ;
Radzhabov, Magomed ;
Balaganskaya, Olga ;
Romanov, Alexey ;
Zakharova, Tatiana ;
Soria Hernanz, David F. ;
Zalloua, Pierre ;
Koshel, Sergey ;
Ruhlen, Merritt ;
Renfrew, Colin ;
Wells, R. Spencer ;
Tyler-Smith, Chris ;
Balanovska, Elena .
MOLECULAR BIOLOGY AND EVOLUTION, 2011, 28 (10) :2905-2920
[10]   Large-scale recent expansion of European patrilineages shown by population resequencing [J].
Batini, Chiara ;
Hallast, Pille ;
Zadik, Daniel ;
Delser, Pierpaolo Maisano ;
Benazzo, Andrea ;
Ghirotto, Silvia ;
Arroyo-Pardo, Eduardo ;
Cavalleri, Gianpiero L. ;
de Knijff, Peter ;
Dupuy, Berit Myhre ;
Eriksen, Heidi A. ;
King, Turi E. ;
Lopez de Munain, Adolfo ;
Lopez-Parra, Ana M. ;
Loutradis, Aphrodite ;
Milasin, Jelena ;
Novelletto, Andrea ;
Pamjav, Horolma ;
Sajantila, Antti ;
Tolun, Aslihan ;
Winney, Bruce ;
Jobling, Mark A. .
NATURE COMMUNICATIONS, 2015, 6