Genetic instabilities of triplet repeat sequences by recombination

被引：28

作者：

Jakupciak, JP ^{[1
]}

Wells, RD ^{[1
]}

机构：

[1] Texas A&M Univ, Texas Med Ctr, Ctr Genome Res, Inst Biosci & Technol, Houston, TX 77030 USA

来源：

IUBMB LIFE | 2000年 / 50卷 / 06期

关键词：

gene conversion; genetic instability; human hereditary disease; recombination; strand slippage; triplet repeats;

D O I：

10.1080/713803749

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The expansion of triplet repeat sequences is an initial step in the disease etiology of a number of hereditary neurological disorders in humans. Diseases such as myotonic dystrophy, Huntington's, several spinocerebellar ataxias, fragile X syndrome, and Friedreich's ataxia are caused by the expansions of CTG.CAG, CGG.CCG, or GAA.TTC repeats. The mechanisms of the expansion process have been investigated intensely in E. coli, yeast, transgenic mice, mammalian cell culture, and in human clinical cases. Whereas studies from 1994-1999 have implicated DNA replication and repair at the paused synthesis sites due to the unusual conformations of the triplet repeat sequences, recent work has shown that homologous recombination (gene conversion) is a powerful mechanism for generating massive expansions, in addition to, or in concert with, replication and repair.

引用

页码：355 / 359

页数：5

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