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学科主题: 临床医学
题名:
Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing
作者: 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
发表日期: 2012-12-21
DOI: 10.1126/science.1229112
卷: 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
所属项目编号: HG005097-1 ; HG005613-01
项目资助者: U.S. NIH National Human Genome Research Institute ; Peking University
WOS记录号: WOS:000312533100055
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59443
Appears in Collections:北京大学第三临床医学院_生殖医学中心_期刊论文

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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

Recommended Citation:
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.
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