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

Nat Genet
Authors
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.

Year of Publication
2016
Journal
Nat Genet
Volume
48
Issue
6
Pages
593-9
Date Published
2016 Jun
ISSN
1546-1718
URL
DOI
10.1038/ng.3559
PubMed ID
27111036
PubMed Central ID
PMC4884158
Links
Grant list
R01 GM090087 / GM / NIGMS NIH HHS / United States
R01 HG003229 / HG / NHGRI NIH HHS / United States
T15 LM007033 / LM / NLM NIH HHS / United States
U41 HG007497 / HG / NHGRI NIH HHS / United States