Transcription of the FMR1 gene in individuals with fragile X syndrome
β Scribed by Tassone, Flora ;Hagerman, Randi J. ;Chamberlain, Winston D. ;Hagerman, Paul J.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 216 KB
- Volume
- 97
- Category
- Article
- ISSN
- 0148-7299
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Fragile X syndrome results from amplification of an unstable trinucleotide (CGG) repeat in the first exon of FMR-1, the "fragile X gene." This mutation silences the gene, resulting in loss of expression of the FMR proteins (FMRP), a series of RNA-binding proteins generated by alternative splicing of
The fragile X mental retardation 1 gene (FMR1) mutation is strongly correlated with specific and marked neurobehavioral and neuroanatomical abnormalities. The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and absent or in low levels in leukocytes from individua
The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMRl gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMRl gene. While this is usually the case, some suspect
The majority of cases involving fragile X syndrome are due to expansion of a (CGG)n trinucleotide repeat at the 5' untranslated region of the FMR-1 gene. Deletion and intragenic loss of function mutations of the FMR-1 gene also have been reported. Here, we report a C to T point mutation at the 14th