Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

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Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

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Title: Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing
Author: Lu, Sijia; Zong, Chenghang; Fan, Wei; Yang, Mingyu; Li, Jinsen; Chapman, Alec Randolph; Zhu, Ping; Hu, Xuesong; Xu, Liya; Yan, Liying; Bai, Fan; Qiao, Jie; Tang, Fuchou; Li, Ruiqiang; Xie, Xiaoliang Sunney

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Citation: Lu, Sijia, Chenghang Zong, Wei Fan, Mingyu Yang, Jinsen Li, Alec Randolph Chapman, Ping Zhu, et al. 2012. Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science 338(6114): 1627-1630.
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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.
Published Version: doi:10.1126/science.1229112
Terms of Use: This article is made available under the terms and conditions applicable to Open Access Policy Articles, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#OAP
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10482559
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