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学科主题: 临床医学
题名:
Rearrangement structure-independent strategy of CNV breakpoint analysis
作者: Xiao, Jianqiu1,2; Zhang, Ling1,2; Wang, Jingmin3; Jiang, Yuwu3; Jin, Lirong4,5; Lu, Jianqi1,2; Jin, Li1,2; Zhong, Chunjiu4,5; Xu, Xiangmin6; Zhang, Feng1,2
关键词: Breakpoint ; CNV ; Human disease ; Integration ; Sequencing
刊名: MOLECULAR GENETICS AND GENOMICS
发表日期: 2014-10-01
DOI: 10.1007/s00438-014-0850-4
卷: 289, 期:5, 页:755-763
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
研究领域[WOS]: Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]: FAMILIAL PARKINSONS-DISEASE ; GENOMIC REARRANGEMENTS ; COPY NUMBER ; DUPLICATION ; MECHANISMS ; DNA ; VARIANTS ; OCCUR
英文摘要:

Rare copy number variations (CNVs) generated by human genomic rearrangements have been shown to play an important role in pathogenesis of human diseases and cancers. CNV breakpoint analysis can help define genomic location, genetic content and sequence structure of pathogenic CNVs. This process is vital to elucidate CNV mutational mechanism and etiology of CNV-associated disorders. However, it is technically challenging to map CNV breakpoints at base-pair level, especially in the genomic regions with sequence complexity. In this study, we developed a new method of capture and breakpoint approaching sequencing (CBAS) to efficiently obtain CNV breakpoint sequences. This strategy is independent of CNV structures and applicable to various CNV types. As was demonstrated in CNV-associated patients with neurological disorders, CBAS achieved fine mapping of breakpoint sequences for compound deletion, complex duplication, and translocation. Intriguingly, CBAS also revealed unexpected CNV complexity involving long-range DNA rearrangement. Our observations showed that CBAS is an efficient method for obtaining CNV breakpoint sequence and mapping insertional events as well. This method can facilitate the researches on CNV-associated human diseases and cancers. CBAS is also applicable to mapping the integration sites of retrovirus (such as HIV) and transgenes in model organisms.

语种: 英语
所属项目编号: 2011CBA00401 ; 2012CB944600 ; 81222014 ; 31171210 ; 31000552 ; 12SG08
项目资助者: National Basic Research Program of China ; National Natural Science Foundation of China ; Shu Guang Project ; Recruitment Program of Global Experts
WOS记录号: WOS:000342448300004
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/56909
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Fudan Univ, Shanghai Med Coll, Shanghai 200032, Peoples R China
2.Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200433, Peoples R China
3.Fudan Univ, Sch Life Sci, Minist Educ Key Lab Contemporary Anthropol, Shanghai 200433, Peoples R China
4.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
5.Fudan Univ, Dept Neurol, Zhongshan Hosp, Shanghai 200032, Peoples R China
6.Southern Med Univ, Dept Med Genet, Sch Basic Med Sci, Guangzhou 510515, Guangdong, Peoples R China

Recommended Citation:
Xiao, Jianqiu,Zhang, Ling,Wang, Jingmin,et al. Rearrangement structure-independent strategy of CNV breakpoint analysis[J]. MOLECULAR GENETICS AND GENOMICS,2014,289(5):755-763.
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