The clinical features of the Fragile X mental retardation syndrome are linked to the absence of the set of protein isoforms, derived from alternative splicing of the Fragile X mental retardation gene 1 (FMR1), and collectively termed FMRP.FMRP is an RNA binding protein that is part of a ribonucleoprotein particle associated to actively translating polyribosomes, and which can shuttle between.. Fragile X Mental Retardation protein (FMRP) is an RNA-binding protein that contains multiple domains with apparently differential affinity to mRNA and to the ribonucleotide homopolymer poly(G). Attempts have been made to map the RNA-binding sites along the protein sequence with a view to determining which of the KH1, KH2 and RGG domains are required to recognize and bind to RNA.
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Introduction. Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the loss of function of a single gene, the fragile X mental retardation 1 gene (FMR1) (Pieretti et al., 1991, Siomi et al., 1993, Verkerk et al., 1991).FXS is typically caused by a triplet repeat expansion in the 5′ UTR of the FMR1 gene, leading to abnormal methylation of the gene and the repression of.. The FMR1 gene provides instructions for making a protein called Fragile X Mental Retardation Protein (FMRP). This protein is important for normal brain development, and its absence or deficiency is associated with the characteristic features of Fragile X syndrome. The mutation in the FMR1 gene results in an expansion of a repetitive DNA.
