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Seraphina Loukas

Abstract

Fragile X Syndrome (FXS) is the most prevalent inherited neurodevelopmental disorder and the most common single-gene cause of autism (Richter and Zhao 2021). FXS occurs due to the loss of the Fmr1 gene, and its respective protein, the Fragile X Messenger Ribonucleoprotein (FMRP). FMRP is an RNA-binding protein (RBP) with notable functions in synaptic development.  Given that cellular processes often entail the collaborative actions of multiple proteins acting as binding partners to regulate mRNA metabolism, identifying FMRP's associates is essential for comprehending FXS mechanisms. Caprin1 was identified as a high-confidence interactor via its co-immunoprecipitation with FMRP in an IP/LC experiment done in the Barbee laboratory, among others (El Fatimy et al. 2012; Taha et al. 2020). The objective was to determine if Caprin1 and Fmr1 genetically interact and regulate synaptic development of the neuromuscular junction (NMJ) in Drosophila melanogaster (fruit flies). Drosophila melanogaster is a well-understood model organism for studying FXS because it shares many similarities with human FXS (Drozd et al. 2018). To determine if a molecular interaction between the RBPs existed, a genetic cross of drosophila melanogaster with mutated copies of Fmr1 and Caprin1 was created. The analyzed synapses were analogous to the overgrowth seen in the FXS brain. Fmr1 and Caprin1 were determined to be genetic interactors in the regulation of synaptic development in the Drosophila melanogaster NMJ. These findings offer a glimpse into the intricate molecular processes governing neurodevelopment in the presence of mutated Fmr1 and Caprin1 genes, providing valuable insights into their contributions to the molecular pathology of FXS. Future experiments should aim to determine the function of Caprin1 within neurons and examine the biochemical interaction between FMRP and Caprin1 proteins

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Section
Articles

How to Cite

Caprin1 and Fmr1 Genetically Interact to Regulate the Development of the Larval Drosophila Neuromuscular Junction. (2024). University of Denver Undergraduate Research Journal, 5. https://duurjportal.com/index.php/duurj/article/view/218