The fragile X gene and its function.
The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch of CGG repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no protein is produced resulting in the fragile X phenotype. Ten years after the discovery of the gene, much has been learned about the function of the fragile X protein. Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known.
Oostra
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Department of Clinical Genetics, Erasmus Universitry, Rotterdam, The Netherlands. Oostra@kgen.fgg.eur.nl
Chiurazzi
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D000818:Animals; D019175:DNA Methylation; D004195:Disease Models, Animal; D004331:Drosophila melanogaster; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008297:Male; D051379:Mice; D008957:Models, Genetic; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D016601:RNA-Binding Proteins; D019680:Trinucleotide Repeat Expansion
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human; C497684:Fmr1 protein, mouse