Genetic Interactions Of Proteins Associated With Fragile X Syndrome
Fragile X Syndrome (FXS) is a genetic disorder that causes neurodevelopmental issues in humans and is the most common single gene mutation causing autism. The loss of the expression of Fragile X Mental Retardation protein (FMRP) is a principal cause of FXS but surprisingly little is known about how FMRP functions in cells. One fact that is clear is that FMRP associates with additional RNA binding proteins (RBPs) to function in neurons. The focus of my research is to explore the genetic interactions of FMRP and another RBP, Syncrip in the Drosophila melanogaster model organism.
Based on unpublished studies in the Barbee lab, it has been identified that Syncrip and FMRP interact at the physical level, meaning they bind to each other directly. Furthermore, a study by McDermott et al. has shown that loss of function of either/or FMRP and Syncrip results in similar phenotypes. Lastly, my previous work in the Barbee lab has proven the colocalization of FMRP and Syncrip in cytoplasmic granules of a neuronal cell line. This evidence strongly suggests the possibility of a genetic interaction between FMRP and Syncrip affecting the same genetic pathways. I hypothesize that Syncrip and FMRP interact genetically to control synaptic development in neurons.