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Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins

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Science  17 Aug 2018:
Vol. 361, Issue 6403, pp. 709-712
DOI: 10.1126/science.aas9963

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Fragile X and fragile translation in flies

Mutations in the fragile X mental retardation 1 (FMR1) gene underlie fragile X syndrome and fragile X–associated primary ovarian insufficiency, which are prominent intellectual disability and reproductive disorders, respectively. FMR1 is thought to reduce protein synthesis (translation) at synapses. In Drosophila oocytes, Greenblatt and Spradling found that Fmr1 loss leads to oocytes that generate embryos exhibiting neural defects (see the Perspective by Aryal and Klann). Ribosome profiling of oocytes identified a specific role for FMR1 in enhancing the translation of large proteins, including many associated with autism. FMR1 seems to help maintain translation of large mRNAs that otherwise condense into inactive ribonucleoprotein particles. This mechanism may underlie other causes of autism and mental dysfunction.

Science, this issue p. 709; see also p. 648