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- W2080352350 abstract "FMR1 (Fra X Mental Retardation 1), a gene of unknown function, is responsible for an important hereditary mental retardation, the fragile X syndrome. In this study, a 22-bp enhancer (methylation sensitive element, MSE) in the FMR1 promoter was defined by DNase I footprinting assay, and the binding of this element by nuclear factor was prevented by DNA CpG methylation. A cAMP-responsive element (CRE)-like sequence and a myc-binding sequence in MSE were identified. In the transfection assay, MSE demonstrated a strong, methylation-sensitive enhancer activity. MSE could be bound by recombinant CRE-binding protein (CREB), and its activity was stimulated by CREB in a co-transfection assay. In PC12 cells, forskolin elevated MSE activity several fold, and this induction was abolished in CRE mutants. The involvement of cAMP in the expression of FMR1 should be a clue to both the function of FMR1 and the pathogenesis of fragile X syndrome." @default.
- W2080352350 created "2016-06-24" @default.
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- W2080352350 date "1997-04-01" @default.
- W2080352350 modified "2023-09-27" @default.
- W2080352350 title "<i>FMR1</i>Enhancer Is Regulated by cAMP Through a cAMP-Responsive Element" @default.
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- W2080352350 doi "https://doi.org/10.1089/dna.1997.16.449" @default.
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