HNSE-O2-1. Characterization of Neuronal Protein-protein Interactions using Baits from the 15q11.2 Locus

Natnael Basazinew1
Nabih Ghani1
Ching Lan (Lanie) Chang2
Richard Gu3
Hayley Baker1
Moonis Ghani1
Van Vo, Ph.D.2
Faculty Mentor: Edwin Oh, Ph.D.2
1College of Sciences, Department of Life Sciences
2College of Sciences, Nevada Institute of Personalized Medicine
3College of Sciences, Department of Chemistry and Biochemistry

The 15q11.2 microdeletion syndrome results in neurodevelopmental deficits that include developmental delay and psychiatric conditions. While comprehensive microarray studies have demonstrated that four genes (NIPA1, NIPA2, CYFIP1, and TUBGCP5) within the 15q11.2 locus are associated with behavioral and anatomical pathology, a unifying hypothesis to correlate gene function to phenotype has not been established. Copy number variations within chromosome 15 are relatively frequent in approximately 1% of the population. An increasing number of genes are associated with intellectual disability (ID) and autism spectrum disorders (ASDs). Fragile X mental retardation gene 1 (FMR1), whose silencing causes the Fragile X syndrome, is the most common form of ID and autism. The precise functional significance of the CYFIP/FMRP interaction is not understood fully; however, among the interactors of FMRP, CYFIP1/2 are good candidates for ID and autism, based on their genetic implication and functional properties. CYFIP1 and CYFIP2 represent a link between Rac1, the WAVE complex, and FMRP, favoring the cross-talk between actin polymerization and translational control. Thus, the role of Cyfip1 in brain connectivity is yet to be explored. Using mass spectrometry, immunoblotting, and immunoprecipitation datasets, we will characterize protein-protein interactions and mechanisms associated with the manifestation of neural disorders linked with the 15q11.2 microdeletion syndrome, and more specifically, with CYFIP1 copy number variation.


Nov 15 - 19 2021


All Day


HNSE: Podium Session 2
The Office of Undergraduate Research


The Office of Undergraduate Research


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