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A fragile gene
Author(s) -
Oostra Ben A.,
Willems Patrick J.
Publication year - 1995
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950171107
Subject(s) - fmr1 , trinucleotide repeat expansion , fragile x syndrome , exon , genetics , biology , gene , untranslated region , gene product , rna binding protein , mutation , rna , gene expression , fragile x , allele
Abstract Fragile X syndrome is the most common cause of inherited mental retardation in humans. The fragile X gene ( FMR1 ) has been cloned and the mutation causing the disease is known. The molecular basis of the disease is an expansion of a trinucleotide repeat sequence (CGG) present in the first exon within the 5′ untranslated region of the FMR1 gene. Affected individuals have repeat CGG sequences of above 200. As a result the gene is not producing protein. It has been shown that the FMR1 protein has RNA binding activity, but the function of this RNA binding activity is not known. The timing and mechanism of repeat amplification are not yet understood. An animal model for fragile X syndrome has been generated, which can be used to study the clinical and biochemical abnormalities caused by absence of FMR1 protein product.