Article
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.
Experimental cell research - 15 Jan 2007
Brouwer J R, Mientjes E J, Bakker C E, Nieuwenhuizen I M, Severijnen L A, Van der Linde H C, Nelson D L, Oostra B A, Willemsen R
Abstract excerpt
The human FMR1 gene contains a CGG repeat in its 5' untranslated region. The repeat length in the normal population is polymorphic (5-55 CGG repeats). Lengths beyond 200 CGGs (full mutation) result in the absence of the FMR1 gene product, FMRP, through abnormal methylation and gene silencing. This causes Fragile X syndrome, the most common inherited form of mental retardation. Elderly carriers of the premutation,...
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