The fragile X gene and its function

Clin Genet. 2001 Dec;60(6):399-408. doi: 10.1034/j.1399-0004.2001.600601.x.

Abstract

The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch of CGG repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no protein is produced resulting in the fragile X phenotype. Ten years after the discovery of the gene, much has been learned about the function of the fragile X protein. Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • DNA Methylation
  • Disease Models, Animal
  • Drosophila melanogaster
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Gene Expression
  • Humans
  • Male
  • Mice
  • Models, Genetic
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • RNA-Binding Proteins*
  • Trinucleotide Repeat Expansion

Substances

  • FMR1 protein, human
  • Fmr1 protein, mouse
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein

Associated data

  • OMIM/309550