Repeat instability: Mechanisms of dynamic mutations

被引：670

作者：

Pearson, CE

Edamura, KN

Cleary, JD

机构：

[1] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON M5G 1L7, Canada

[2] Univ Toronto, Dept Mol & Med Genet, Toronto, ON, Canada

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 10期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1038/nrg1689

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins. Repeat instability probably involves the formation of unusual DNA structures during DNA replication, repair and recombination. Experimental advances towards explaining the mechanisms of repeat instability have broadened our understanding of this mutational process. They have revealed surprising ways in which metabolic pathways can drive or protect from repeat instability.

引用

收藏

页码：729 / 742

页数：14

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