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Nat Genet. 1993 Jan;3(1):36-43.

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

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Center for Cancer Research, Massachusetts Institute of Technology, Cambridge 02139.

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  • Nat Genet 1993 Nov;5(3):312.


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.

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