Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome

Nat Genet. 1993 Jan;3(1):36-43. doi: 10.1038/ng0193-36.


We have performed mRNA in situ hybridization studies and northern blot analysis in the mouse and human, respectively, to determine the normal gene expression patterns of FMR-1. Expression in the adult mouse was localized to several regions of the brain and the tubules of the testes, which are two of the major organs affected in fragile X syndrome. Universal and very strong expression was observed in early mouse embryos, with differentially decreasing expression during subsequent stages of embryonic development. The early embryonic onset and tissue specificity of FMR-1 gene expression is consistent with involvement in the fragile X phenotype, and also suggests additional organ systems in which clinical manifestations of reduced FMR-1 gene expression may occur.

Publication types

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

MeSH terms

  • Adult
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Brain / metabolism
  • DNA, Single-Stranded
  • Fetus
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Gene Expression
  • Humans
  • In Situ Hybridization
  • Male
  • Mice
  • Molecular Sequence Data
  • Nerve Tissue Proteins / biosynthesis
  • Nerve Tissue Proteins / genetics*
  • Organ Specificity / genetics
  • RNA-Binding Proteins*
  • Testis / metabolism


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