Mechanisms for recurrent and complex human genomic rearrangements

被引：254

作者：

Liu, Pengfei ^{[1
]}

Carvalho, Claudia M. B. ^{[1
]}

Hastings, P. J. ^{[1
]}

Lupski, James R. ^{[1
,2
,3
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2012年 / 22卷 / 03期

基金：

美国国家卫生研究院;

关键词：

MEIOTIC RECOMBINATION HOTSPOTS; BREAK-INDUCED REPLICATION; DNA-REPLICATION; HOMOLOGOUS RECOMBINATION; COPY NUMBER; SACCHAROMYCES-CEREVISIAE; CANCER GENOMES; CROSSING-OVER; DISORDERS; GENE;

D O I：

10.1016/j.gde.2012.02.012

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

During the last two decades, the importance of human genome copy number variation (CNV) in disease has become widely recognized. However, much is not understood about underlying mechanisms. We show how, although model organism research guides molecular understanding, important insights are gained from study of the wealth of information available in the clinic. We describe progress in explaining nonallelic homologous recombination (NAHR), a major cause of copy number change occurring when control of allelic recombination fails, highlight the growing importance of replicative mechanisms to explain complex events, and describe progress in understanding extreme chromosome reorganization (chromothripsis). Both nonhomologous end-joining and aberrant replication have significant roles in chromothripsis. As we study CNV, the processes underlying human genome evolution are revealed.

引用

页码：211 / 220

页数：10

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