Datasets

Title	Chromatin and gene expression changes during female Drosophila germline stem cell development.
Organism
Number of Samples	11
Release Date	2023/04/18 00:00
Sequencing Types
Protocol Details

Title
Authors	Greenblatt EJ,Spradling AC
Journal	Science (New York, N.Y.)
Publication Date	2018 Aug 17
Abstract	Mutations in the fragile X mental retardation 1 gene ( FMR1 ) cause the most common inherited human autism spectrum disorder. FMR1 influences messenger RNA (mRNA) translation, but identifying functional targets has been difficult. We analyzed quiescent Drosophila oocytes, which, like neural synapses, depend heavily on translating stored mRNA. Ribosome profiling revealed that FMR1 enhances rather than represses the translation of mRNAs that overlap previously identified FMR1 targets, and acts preferentially on large proteins. Human homologs of at least 20 targets are associated with dominant intellectual disability, and 30 others with recessive neurodevelopmental dysfunction. Stored oocytes lacking FMR1 usually generate embryos with severe neural defects, unlike stored wild-type oocytes, which suggests that translation of multiple large proteins by stored mRNAs is defective in fragile X syndrome and possibly other autism spectrum disorders. Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.
PMC	PMC6905618
PMID	30115809
DOI

Greenblatt et al. 2018 (PRJNA466150)