Project 463068

Mutations in the gene FMR1 lead to disorders that are associated with intellectual and reproductive impairment. This includes fragile X syndrome, which is the most common cause of autism. The FMR1 gene encodes a protein FMRP which regulates the translation (protein production) of other genes in the brain and reproductive tissues. When mutated, this regulation is disturbed, and many autism-relevant genes become expressed at lower levels than normal. The loss of FMRP leads to severe intellectual disability, as well as impaired sperm and egg development. Despite considerable effort, little is known about how FMRP promotes the translation of its targets. We have developed a new system for discovering the details of this process taking advantage of the accessibility of the oocytes of the model organism Drosophila melanogaster. We have used this system to identify for the first time partner proteins that work with FMRP to promote autism-relevant gene expression. This proposal aims to understand how these proteins work with FMRP to promote autism-relevant gene expression, with the goal of opening up new avenues for the development of treatments for autism patients.