Work

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

Year: 2018

Type: article

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

Source: Science

DOI: 10.1126/science.aas9963

Authors: Ethan J. Greenblatt, Allan C. Spradling

Institutions: Howard Hughes Medical Institute, Carnegie Institution for Science, Department of Embryology

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Howard Hughes Medical Institute, Jane Coffin Childs Memorial Fund for Medical Research, University of Pennsylvania, University of California, San Francisco