Alternative splicing in the murine and human FXR1 genes.

Abstract excerpt

Fragile X syndrome results from mutations in the X-linked FMR1 gene. The most common mutation is expansion and hypermethylation of a CGG repeat in the 5'UTR of FMR1, which blocks transcription and results in the loss of FMR1 protein (FMRP). Efforts to understand the function of FMRP have led to the identification of two autosomal homologs, FXR1P and FXR2P, that may interact with FMRP in some tissues. Reported...

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