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

Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M
Nat Genet. 1993 3 (1): 36-43

PMID: 8490651 · 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.

MeSH Terms (19)

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

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