长 CGG 重复序列对人类细胞有毒性：对脆性 X 前突变等位基因携带者的影响。
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles.
作者信息
Handa Vaishali, Goldwater Deena, Stiles David, Cam Margaret, Poy George, Kumari Daman, Usdin Karen
机构信息
Laboratory of Molecular and Cellular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892-0830, USA.
出版信息
FEBS Lett. 2005 May 9;579(12):2702-8. doi: 10.1016/j.febslet.2005.04.004. Epub 2005 Apr 18.
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.
在其一个FMR1基因的5'非翻译区具有59 - 200个CGG.CCG重复序列的人有患脆性X震颤共济失调综合征的风险。女性也有过早卵巢功能衰竭的风险。这些症状被认为是由于DNA和/或RNA水平上存在重复序列所致。我们在此表明，长的转录但未翻译的CGG重复序列对人类细胞有毒，并会改变包括半胱天冬酶-8、CYFIP、神经降压素和UBE3A在内的多种不同基因的表达。
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