Date of Award
Usher's syndrome, Protein-protein interactions
Hearing loss presenting without any other defects is referred to as nonsyndromic, whereas hearing loss in combination with one or more defects is referred to as syndromic hearing loss. Usher syndrome, one example of syndromic hearing loss, is a genetic disorder that affects both hearing and vision. There are several genes associated with Usher syndrome. The genes GPR98 and USH2A are critical for ankle link formation and when mutated result in deafness. Our lab (Barr-Gillespie Lab at OHSU) is interested in further characterizing the protein-protein interactions required to form the ankle links. This includes two genes (PDZD7 and MYO7A) known to be important for stereocilia link formation, and a candidate member of the ankle link complex (ANKRD24). Co-IPs were performed to determine if ANKRD24, MYO7A and PDZD7 interact with previously characterized ankle link proteins GPR98 or USH2A. Based on results from this experiment, no definitive interaction was found between ANKRD24, MYO7A and PDZD7 with GPR98.
Yazdidoust, Ladan, "Defining Protein Interactions: Ankle Link Proteins of Stereocilia in Hair Cells" (2016). University Honors Theses. Paper 268.