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


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.

SUBMITTER: Poznik GD 

PROVIDER: S-EPMC4884158 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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

Poznik G David GD   Xue Yali Y   Mendez Fernando L FL   Willems Thomas F TF   Massaia Andrea A   Wilson Sayres Melissa A MA   Ayub Qasim Q   McCarthy Shane A SA   Narechania Apurva A   Kashin Seva S   Chen Yuan Y   Banerjee Ruby R   Rodriguez-Flores Juan L JL   Cerezo Maria M   Shao Haojing H   Gymrek Melissa M   Malhotra Ankit A   Louzada Sandra S   Desalle Rob R   Ritchie Graham R S GR   Cerveira Eliza E   Fitzgerald Tomas W TW   Garrison Erik E   Marcketta Anthony A   Mittelman David D   Romanovitch Mallory M   Zhang Chengsheng C   Zheng-Bradley Xiangqun X   Abecasis Gonçalo R GR   McCarroll Steven A SA   Flicek Paul P   Underhill Peter A PA   Coin Lachlan L   Zerbino Daniel R DR   Yang Fengtang F   Lee Charles C   Clarke Laura L   Auton Adam A   Erlich Yaniv Y   Handsaker Robert E RE   Bustamante Carlos D CD   Tyler-Smith Chris C  

Nature genetics 20160425 6


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  ...[more]

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