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Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing
Lu, Sijia2; Zong, Chenghang2; Fan, Wei1; Yang, Mingyu1; Li, Jinsen1; Chapman, Alec R.2,3; Zhu, Ping1; Hu, Xuesong1; Xu, Liya1; Yan, Liying4,5; Bai, Fan1; Qiao, Jie4,5; Tang, Fuchou1; Li, Ruiqiang1,6; Xie, X. Sunney1,2
刊名SCIENCE
2012-12-21
DOI10.1126/science.1229112
338期:6114页:1627-1630
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]IN-SITU HYBRIDIZATION ; HOT-SPOTS ; CHROMOSOME-Y ; HUMANS ; MEIOSIS ; RATES ; MAP ; AMPLIFICATION ; CHIMPANZEES ; PATTERNS
英文摘要

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.

语种英语
WOS记录号WOS:000312533100055
引用统计
被引频次:127[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59443
专题北京大学第三临床医学院_生殖医学中心
作者单位1.Peking Univ, Biodynam Opt Imaging Ctr, Sch Life Sci, Beijing 100871, Peoples R China
2.Harvard Univ, Dept Chem & Chem Biol, Cambridge, MA 02138 USA
3.Harvard Univ, Program Biophys, Cambridge, MA 02138 USA
4.Minist Educ, Key Lab Assisted Reprod, Beijing 100191, Peoples R China
5.Peking Univ, Ctr Reprod Med, Hosp 3, Beijing 100191, Peoples R China
6.Peking Univ, Peking Tsinghua Ctr Life Sci, Sch Life Sci, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Lu, Sijia,Zong, Chenghang,Fan, Wei,et al. Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing[J]. SCIENCE,2012,338(6114):1627-1630.
APA Lu, Sijia.,Zong, Chenghang.,Fan, Wei.,Yang, Mingyu.,Li, Jinsen.,...&Xie, X. Sunney.(2012).Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing.SCIENCE,338(6114),1627-1630.
MLA Lu, Sijia,et al."Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing".SCIENCE 338.6114(2012):1627-1630.
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