Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles

被引：47

作者：

Handa, V

Goldwater, D

Stiles, D

Cam, M

Poy, G

Kumari, D

Usdin, K

机构：

[1] NIDDKD, Mol & Cellular Biol Lab, NIH, Bethesda, MD 20892 USA

[2] NIDDKD, Microarray Core Facil, NIH, Bethesda, MD 20892 USA

来源：

FEBS LETTERS | 2005年 / 579卷 / 12期

关键词：

fragile X syndrome; CGG-repeat; premutation; POF; fragile X tremor and ataxia syndrome;

D O I：

10.1016/j.febslet.2005.04.004

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：

People with 59-200 CGG (.) CCG-repeats in the 5' UTR of one of their FMR1 genes are at risk for Fragile X tremor and ataxia syndrome. Females are also at risk for premature ovarian failure. These symptoms are thought to be due to the presence of the repeats at the DNA and/or RNA level. We show here that long transcribed but untranslated CGG-repeat tracts are toxic to human cells and alter the expression of a wide variety of different genes including caspase-8, CYFIP, Neurotensin and UBE3A. (c) 2005 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

引用

页码：2702 / 2708

页数：7

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