The fragile X gene and its function.

B A Oostra; P Chiurazzi

doi:10.1034/j.1399-0004.2001.600601.x

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The fragile X gene and its function.

B A Oostra·P Chiurazzi

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Abstract

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.

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Animals DNA Methylation Disease Models, Animal Drosophila melanogaster Female Fragile X Messenger Ribonucleoprotein 1 Fragile X Syndrome Gene Expression Humans Male Mice Models, Genetic Nerve Tissue Proteins RNA-Binding Proteins Trinucleotide Repeat Expansion Journal Article Research Support, U.S. Gov't, P.H.S.Review

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B A Oostra, P Chiurazzi. 2001. The fragile X gene and its function.. https://doi.org/10.1034/j.1399-0004.2001.600601.x

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