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Cold Spring Harbor Laboratory Press, Genome Research, 4(25), p. 459-466

DOI: 10.1101/gr.186684.114



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

Journal article published in 2015 by Monika Karmin, Lauri Saag, Mário Vicente, Melissa A. Wilson Sayres ORCID, Mari Järve, Anne-Mai Ilumäe, Ulvi Gerst Talas, Mario Mitt, Siiri Rootsi, Zuzana Faltyskova, Florian Clemente, Anne-Mai Ilumäe Reedik Mägi, Alexia Cardona, Ene Metspalu, Bayazit Yunusbayev and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.