Fragile X Syndrome (FXS) is the most common form of inherited mental retardation affecting approximately 1 in 3,600 males and 1 in 6,000 females. FXS is linked to the expansion of cytosine-guanine-guanine trinucleotide repeats in the fragile X mental retardation 1 (fmr1) gene causing hypermethylation of the cytosines, transcriptional silencing of fmr1, and loss of the fragile X mental retardation protein (FMRP). However, one patient who phenotypically expressed FXS was found to still produce FMRP. Further studies revealed a frame shift altering guanine-insertion in the fmr1 gene, which affected the major G quadruplex binding site of FMRP, the arginine-glycine-glycine (RGG) box. In this study we have used different biophysical methods to characterize the binding activity of the newly-discovered mutated FMRP RGG box to the G quadruplex forming human Semaphorin 3F-sh mRNA, which is a shown binding target for wild-type FMRP RGG box.

Effect of a mutation on the fragile X mental retardation protein's interactions with semaphorin 3F mRNA

243rd National Meeting (2012)

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