The Molecular Basis of Fragile X Syndrome

  1. D.E. Eberhart and
  2. S.T. Warren
  1. Howard Hughes Medical Institute and Departments of Biochemistry and Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322

This extract was created in the absence of an abstract.

Excerpt

Fragile X syndrome is one of the most common forms of inherited mental retardation. The disease is caused by the massive expansion and concomitant methylation of a CGG repeat located in the 5′-untranslated region of the FMR1 gene, which results in transcriptional silencing of the gene. Since the absence of the fragile X mental retardation protein (FMRP) leads to mental retardation and FMRP is abundantly expressed in the neurons of the hippocampus and cerebellum, determining the normal function of the protein would not only provide information about the pathogenesis of fragile X syndrome, but should also provide insight into the mechanisms involved in cognition, memory, and behavior. Until recently there had been limited progress in elucidating the function of FMRP other than showing that FMRP can selectively bind RNA. Recent reports suggest that FMRP may be involved in the nuclear export and ribosome presentation of specific transcripts.

CLINICAL FEATURES AND

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