Repeat instability as the basis for human diseases and as a potential target for therapy

被引：322

作者：

Castel, Arturo Lopez ^{[1
]}

Cleary, John D. ^{[1
,2
]}

Pearson, Christopher E. ^{[1
,2
]}

机构：

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

[2] Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A1, Canada

来源：

NATURE REVIEWS MOLECULAR CELL BIOLOGY | 2010年 / 11卷 / 03期

基金：

加拿大健康研究院;

关键词：

TRINUCLEOTIDE REPEAT; TRIPLET-REPEAT; CAG REPEAT; CTG REPEAT; EXPANSION; REPAIR; TRANSCRIPTION; HAIRPINS; TRACTS; BREAKS;

D O I：

10.1038/nrm2854

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size - targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.

引用

页码：165 / 170

页数：6

共 50 条

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