Segmental duplications: An 'expanding' role in genomic instability and disease

被引：210

作者：

Emanuel, BS

Shaikh, TH

机构：

[1] Childrens Hosp Philadelphia, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

来源：

NATURE REVIEWS GENETICS | 2001年 / 2卷 / 10期

关键词：

D O I：

10.1038/35093500

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement.

引用

页码：791 / 800

页数：10

共 92 条

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