Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Poznik, G. David, Xue, Yali, Mendez, Fernando L., Willems, Thomas F., Massaia, Andrea, Sayres, Melissa A. Wilson, Ayub, Qasim, McCarthy, Shane A., Narechania, Apurva, Kashin, Seva, Chen, Yuan, Banerjee, Ruby, Rodriguez-Flores, Juan L., Cerezo, Maria, Shao, Haojing, Gymrek, Melissa, Malhotra, Ankit, Louzada, Sandra, Desalle, Rob, Ritchie, Graham R. S., Cerveira, Eliza, Fitzgerald, Tomas W., Garrison, Erik, Marcketta, Anthony, Mittelman, David, Romanovitch, Mallory, Zhang, Chengsheng, Zheng-Bradley, Xiangqun, Abecasis, Goncalo R., McCarroll, Steven A., Flicek, Paul, Underhill, Peter A., Coin, Lachlan, Zerbino, Daniel R., Yang, Fengtang, Lee, Charles, Clarke, Laura, Auton, Adam, Erlich, Yaniv, Handsaker, Robert E., Bustamante, Carlos D. and Tyler-Smith, Chris (2016) Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences. Nature Genetics, 48 6: 593-599. doi:10.1038/ng.3559

Author Poznik, G. David
Xue, Yali
Mendez, Fernando L.
Willems, Thomas F.
Massaia, Andrea
Sayres, Melissa A. Wilson
Ayub, Qasim
McCarthy, Shane A.
Narechania, Apurva
Kashin, Seva
Chen, Yuan
Banerjee, Ruby
Rodriguez-Flores, Juan L.
Cerezo, Maria
Shao, Haojing
Gymrek, Melissa
Malhotra, Ankit
Louzada, Sandra
Desalle, Rob
Ritchie, Graham R. S.
Cerveira, Eliza
Fitzgerald, Tomas W.
Garrison, Erik
Marcketta, Anthony
Mittelman, David
Romanovitch, Mallory
Zhang, Chengsheng
Zheng-Bradley, Xiangqun
Abecasis, Goncalo R.
McCarroll, Steven A.
Flicek, Paul
Underhill, Peter A.
Coin, Lachlan
Zerbino, Daniel R.
Yang, Fengtang
Lee, Charles
Clarke, Laura
Auton, Adam
Erlich, Yaniv
Handsaker, Robert E.
Bustamante, Carlos D.
Tyler-Smith, Chris
Title Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2016-06-01
Year available 2016
Sub-type Article (original research)
DOI 10.1038/ng.3559
Open Access Status Not yet assessed
Volume 48
Issue 6
Start page 593
End page 599
Total pages 7
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Subject 1311 Genetics
Abstract We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26 worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 variants, including single-nucleotide variants, multiple-nucleotide variants, insertions and deletions, short tandem repeats, and copy number variants. Of these, copy number variants contribute the greatest predicted functional impact. We constructed a calibrated phylogenetic tree on the basis of binary single-nucleotide variants and projected the more complex variants onto it, estimating the number of mutations for each class. Our phylogeny shows bursts of extreme expansion in male numbers that have occurred independently among each of the five continental superpopulations examined, at times of known migrations and technological innovations.
Keyword Genetics & Heredity
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID DGE-1147470
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 45 times in Thomson Reuters Web of Science Article | Citations
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