A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author:

Karmin Monika,Saag Lauri,Vicente Mário,Sayres Melissa A. Wilson,Järve Mari,Talas Ulvi Gerst,Rootsi Siiri,Ilumäe Anne-Mai,Mägi Reedik,Mitt Mario,Pagani Luca,Puurand Tarmo,Faltyskova Zuzana,Clemente Florian,Cardona Alexia,Metspalu Ene,Sahakyan Hovhannes,Yunusbayev Bayazit,Hudjashov Georgi,DeGiorgio Michael,Loogväli Eva-Liis,Eichstaedt Christina,Eelmets Mikk,Chaubey Gyaneshwer,Tambets Kristiina,Litvinov Sergei,Mormina Maru,Xue Yali,Ayub Qasim,Zoraqi Grigor,Korneliussen Thorfinn Sand,Akhatova Farida,Lachance Joseph,Tishkoff Sarah,Momynaliev Kuvat,Ricaut François-Xavier,Kusuma Pradiptajati,Razafindrazaka Harilanto,Pierron Denis,Cox Murray P.,Sultana Gazi Nurun Nahar,Willerslev Rane,Muller Craig,Westaway Michael,Lambert David,Skaro Vedrana,Kovačevic´ Lejla,Turdikulova Shahlo,Dalimova Dilbar,Khusainova Rita,Trofimova Natalya,Akhmetova Vita,Khidiyatova Irina,Lichman Daria V.,Isakova Jainagul,Pocheshkhova Elvira,Sabitov Zhaxylyk,Barashkov Nikolay A.,Nymadawa Pagbajabyn,Mihailov Evelin,Seng Joseph Wee Tien,Evseeva Irina,Migliano Andrea Bamberg,Abdullah Syafiq,Andriadze George,Primorac Dragan,Atramentova Lubov,Utevska Olga,Yepiskoposyan Levon,Marjanovic´ Damir,Kushniarevich Alena,Behar Doron M.,Gilissen Christian,Vissers Lisenka,Veltman Joris A.,Balanovska Elena,Derenko Miroslava,Malyarchuk Boris,Metspalu Andres,Fedorova Sardana,Eriksson Anders,Manica Andrea,Mendez Fernando L.,Karafet Tatiana M.,Veeramah Krishna R.,Bradman Neil,Hammer Michael F.,Osipova Ludmila P.,Balanovsky Oleg,Khusnutdinova Elza K.,Johnsen Knut,Remm Maido,Thomas Mark G.,Tyler-Smith Chris,Underhill Peter A.,Willerslev Eske,Nielsen Rasmus,Metspalu Mait,Villems Richard,Kivisild Toomas

Abstract

It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50–100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192–307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47–52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

Funder

Estonian and European Research (infrastructure) Roadmap

Estonian Biocentre and Estonian Institutional Research

Estonian Science Foundation

Estonian Research Council

Russian Federation President

ERC Starting Investigator

Estonian Centre of Excellence in Genomics

Estonian Ministry of Education and Research

Centre of Translational Genomics of the University of Tartu

Russian Foundation for Basic Research

Russian Humanitarian Scientific Foundation

Presidium of Russian Academy of Sciences

Russian Science Foundation

Wellcome Trust

Leverhulme Program

Publisher

Cold Spring Harbor Laboratory

Subject

Genetics(clinical),Genetics

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