RNAi and Fragile X

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Science  18 Oct 2002:
Vol. 298, Issue 5593, pp. 497
DOI: 10.1126/science.298.5593.497e

Fragile X syndrome is the most common form of inherited mental retardation and is generally caused by mutations in the fragile X mental retardation gene (FMR1). The FMR1 protein is thought to negatively regulate the translation of specific genes. Caudy et al. and Ishizuka et al. have now demonstrated that the homologous protein in Drosophila, dFMRP, is associated with a vital component of the RNA interference (RNAi) machinery, the RNA-induced silencing complex (RISC), as well as with ribosomal proteins and VIG (Vasa intronic gene). These results suggest that RISC might provide a link between RNAi-based and FMRP-based modes of post-transcriptional gene control or, more provocatively, that FMRP may play a role in RNAi, thereby implicating defects in RNAi in human disease. — GR

Genes Dev.16, 2491; 2497 (2002).

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