期刊
FEBS LETTERS
卷 579, 期 12, 页码 2702-2708出版社
WILEY
DOI: 10.1016/j.febslet.2005.04.004
关键词
fragile X syndrome; CGG-repeat; premutation; POF; fragile X tremor and ataxia syndrome
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.
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