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

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.