Examination of FMR1 transcript and protein levels among 74 premutation carriers

  title={Examination of FMR1 transcript and protein levels among 74 premutation carriers},
  author={Emmanuel Kwame Peprah and Weiya He and E. W. Allen and Tiffany R. Oliver and Alex R. Boyne and Stephanie L. Sherman},
  journal={Journal of Human Genetics},
Fragile X-associated disorders are caused by a CGG trinucleotide repeat expansion in the 5′-untranslated region of the FMR1 gene. Expansion of the CGG trinucleotide repeats to >200 copies (that is, a full mutation) induces methylation of the FMR1 gene, with transcriptional silencing being the eventual outcome. Previous data have shown that FMR1 premutation carriers (individuals with 55–199 repeats) have increased FMR1 mRNA levels with decreased protein (fragile X mental retardation protein… CONTINUE READING


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