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

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.

SUBMITTER: Lu S

PROVIDER: S-EPMC3590491 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature

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

Lu Sijia S Zong Chenghang C Fan Wei W Yang Mingyu M Li Jinsen J Chapman Alec R AR Zhu Ping P Hu Xuesong X Xu Liya L Yan Liying L Bai Fan F Qiao Jie J Tang Fuchou F Li Ruiqiang R Xie X Sunney XS

Science (New York, N.Y.) 20121201 6114

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 ab ...[more]

PMID: 23258895

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