Fragile X mental retardation protein structure and function of Progress.docVIP

 PAGE \* MERGEFORMAT 19 Fragile X mental retardation protein structure and function of Progress [Keywords:] fragile X syndrome, gene, RNA binding proteins, dendritic Fragile X syndrome (fragile X syndrome, FXS is second only to Down syndrome, the incidence of hereditary mental retardation, the incidence rate in men is 1 / 4 000, female 1 / 8 000. The main clinical manifestations are: varying degrees of mental retardation, giant testicles, special face, language development disorders, and behavioral abnormalities (such as attention span is short, clapping, avoiding eye contact and so on. brittleness X mental retardation 1 gene (fragile X mental retardation 1 gene, FMR1 is located on chromosome Xq27.3, consists of 17 exons and 16 introns, spanning 38 kb. The 5 ‘end non-coding region of a CGG trinucleotide repeat sequences of about 250 bp upstream in a CpG Island, and its methylation could lead to fragile X syndrome. According to the number of CGG trinucleotide repeat, FMR1 gene can be divided into four types: normal type (normal type, n lt;50, intermediate type (intermediate type, 50 Fragile X mental retardation 1 protein structure FMR1 gene encoding the fragile X mental retardation protein (fragile X mental retardion protein, FMRP protein mainly located in the cytoplasm, a small amount found in the nucleus, distributed in the mammalian brain, testis, spleen, blood, liver and other tissues, from 632 amino acid residues The molecular weight of about 69 ~ 70 kDa. its amino acid sequence can be divided into three parts: N terminal (1 204,2 a KH domain (205 ~ 422, C terminal (516 to 632 (Figure 1, where N terminal ( N terminal domain of FMRP, NDF is a highly conserved amino acid sequence, while the highly variable C-terminal RGG box, which have a (arginine glycine cluster, two KH domains (hnRNP K homology domain that KH1 and KH2 domain respectively exon 8,9 and exon 7, coding, and RGG box encoded by exons 15,16. FMRP and a nuclear localization signal (NL