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Dylan Ritter

Predoctoral Trainee/ Knapik Lab

The Vanderbilt University Biobank (BioVU) serves as an excellent resource to study genetic association of genome variation with disease phenotypes. PrediXcan analysis on BioVU has implicated a wide array of skeletal, craniofacial, and neurological phenotypes significantly associated with reduced expression of RGP1. Rgp1 is part of a guanine nucleotide exchange factor (GEF) that binds Ric1 to activate Rab6a GTPase and promotes post-Golgi vesicle trafficking of collagen and other extracellular matrix (ECM) proteins. Little is known about the organismal requirement for Rgp1, and no vertebrate models have been developed to study its physiological function. To understand the cellular and molecular mechanisms underlying patient phenomes associated with reduced expression of RGP1, we established a zebrafish knockout approach to model rgp1 depletion. Our in vivo model will be used to investigate how global disruption of rgp1 manifests itself in skeletal, craniofacial, and neurological systems, and compared to human phenotypes.