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Role Of FXS-Causing Point Mutations In FMRP's KH RNA Binding Domains In The Regulation Of Its Function In Vivo

The most common cause of inherited mental disability in humans is Fragile X Syndrome (FXS). While certain aspects of FXS have been well characterized, the role of FXS-causing point mutations has been understudied and will be the focus of this study. The experiments conducted here examine the effect that point mutations in Fragile X Mental Retardation Protein’s (FMRP) K-homology (KH) RNA binding domains have on the regulation of its function in vivo. The mutations KH1, KH2 and KH1+KH2, in the first, second, and both KH domains will be introduced into a model organism, Drosophila melanogaster. Enhanced green fluorescent protein (EGFP) fused to FMRP and its mutant forms were overexpressed during D. melanogaster eye development. Unlike published results, no phenotype was observed with wild-type FMRP. A Western blot of these proteins revealed that full length EGFP:FMRP was being produced. Due to complications stemming from COVID-19, the full complement of experiments were unable to be completed. When these additional experiments are completed, the results from this study will provide more information on the role of disease-causing point mutations in FMRP’s KH RNA binding domain in vivo.

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