Premium
Long CGG‐repeat tracts are toxic to human cells: Implications for carriers of Fragile X premutation alleles
Author(s) -
Handa Vaishali,
Goldwater Deena,
Stiles David,
Cam Margaret,
Poy George,
Kumari Daman,
Usdin Karen
Publication year - 2005
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2005.04.004
Subject(s) - fragile x syndrome , ataxia , allele , genetics , biology , gene , trinucleotide repeat expansion , untranslated region , fmr1 , neurotensin , fragile x , microbiology and biotechnology , rna , neuroscience , receptor , neuropeptide
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.