Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
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.
Hinds
H L
HL
Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139.
Ashley
C T
CT
Sutcliffe
J S
JS
Nelson
D L
DL
Warren
S T
ST
Housman
D E
DE
Schalling
M
M
D000328:Adult; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000378:metabolism; D004277:DNA, Single-Stranded; D005333:Fetus; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000235:genetics*; D009928:Organ Specificity / Q000235:genetics; D016601:RNA-Binding Proteins; D013737:Testis / Q000378:metabolism
D004277:DNA, Single-Stranded; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse