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

Handa Vaishali | Zendy; Goldwater Deena | Zendy; Stiles David | Zendy; Cam Margaret | Zendy; Poy George | Zendy; Kumari Daman | Zendy; Usdin Karen | Zendy

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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.

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