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PMID: 23258895 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing.

Science (New York, N.Y.) ·Vol. 338 ·No. 6114 ·2012-12-21 ·Pages 1627-30

Lu S, Zong C, Fan W, Yang M, Li J, Chapman AR, Zhu P, Hu X, Xu L, Yan L, Bai F, Qiao J, Tang F, Li R, Xie XS

Abstract

Meiotic recombination creates genetic diversity and ensures segregation of homologous chromosomes. Previous population analyses yielded results averaged among individuals and affected by evolutionary pressures. We sequenced 99 sperm from an Asian male by using the newly developed amplification method-multiple annealing and looping-based amplification cycles-to phase the personal genome and map recombination events at high resolution, which are nonuniformly distributed across the genome in the absence of selection pressure. The paucity of recombination near transcription start sites observed in individual sperm indicates that such a phenomenon is intrinsic to the molecular mechanism of meiosis. Interestingly, a decreased crossover frequency combined with an increase of autosomal aneuploidy is observable on a global per-sperm basis.

MeSH Terms
Aneuploidy Chromosome Segregation Chromosomes, Human/genetics Crossing Over, Genetic Genome, Human Haplotypes Heterozygote High-Throughput Nucleotide Sequencing Humans Male Meiosis Middle Aged Nucleic Acid Amplification Techniques Recombination, Genetic Sequence Analysis, DNA/methods Single-Cell Analysis Spermatozoa/physiology Transcription Initiation Site
Authors & Affiliations
15 authors, click to expand affiliations / ORCID
Lu Sijia
Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Zong Chenghang
Fan Wei
Yang Mingyu
Li Jinsen
Chapman Alec R
Zhu Ping
Hu Xuesong
Xu Liya
Yan Liying
Bai Fan
Qiao Jie
Tang Fuchou
Li Ruiqiang
Xie X Sunney
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Article Info
Journal
Science (New York, N.Y.)
Abbr.
Science
ISSN
1095-9203
DOI
10.1126/science.1229112
Published
2012-12-21
Pages
1627-30
Language
English
Region
United States
NLM ID
0404511
PMCID
PMC3590491
Subset
IM
Grants
NHGRI NIH HHS · R01 HG005097 · United States
NHGRI NIH HHS · RC2 HG005613 · United States
NHGRI NIH HHS · HG005613-01 · United States
NHGRI NIH HHS · HG005097-1 · United States
Corrections
CommentIn
PMID: 23570041
External Links
PubMed source DOI: 10.1126/science.1229112 PMC Full Text View journal details
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