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

Author:

Greenblatt Ethan J.1ORCID,Spradling Allan C.1ORCID

Affiliation:

1. Howard Hughes Medical Institute Research Laboratories, Department of Embryology, Carnegie Institution for Science, Baltimore, MD 21218, USA.

Abstract

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

Funder

Howard Hughes Medical Institute

Jane Coffin Childs Memorial Fund for Medical Research

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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