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

G. David Poznik, Yali Xue, Fernando L. Mendez, Thomas F. Willems, Andrea Massaia, Melissa Wilson Sayres, Qasim Ayub, Shane A. McCarthy, Apurva Narechania, Seva Kashin, Yuan Chen, Ruby Banerjee, Juan L. Rodriguez-Flores, Maria Cerezo, Haojing Shao, Melissa Gymrek, Ankit Malhotra, Sandra Louzada, Rob Desalle, Graham R S RitchieEliza Cerveira, Tomas W. Fitzgerald, Erik Garrison, Anthony Marcketta, David Mittelman, Mallory Romanovitch, Chengsheng Zhang, Xiangqun Zheng-Bradley, Gon'alo R. Abecasis, Steven A. McCarroll, Paul Flicek, Peter A. Underhill, Lachlan Coin, Daniel R. Zerbino, Fengtang Yang, Charles Lee, Laura Clarke, Adam Auton, Yaniv Erlich, Robert E. Handsaker, Carlos D. Bustamante, Chris Tyler-Smith

Research output: Contribution to journalArticlepeer-review

207 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)593-599
Number of pages7
JournalNature Genetics
Issue number6
StatePublished - Jun 1 2016

ASJC Scopus subject areas

  • Genetics


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