Characterization of a Novel BMP3 Mutants Implicated in Ocular Coloboma

Abstract

BMP3 is a diffusible morphogen that is relevant to various critical developmental processes, and changes to this protein may result in disruptions to the signaling pathways and subsequent phenotypes of the organism. For example, a BMP3 mutation in zebrafish has been shown to result in ocular and skeletal abnormalities (Fox et al., 2022). To further elucidate the impact of mutation at the cellular level, we will investigate the effects of three novel BMP3 mutations previously implicated in the ocular disease coloboma on downstream cellular signaling mechanisms. To do this, we will utilize a tissue culture system to analyze each mutant’s ability to be secreted and subsequently activate downstream cellular signaling. Overall, this research will aid in our understanding of BMP3 secretion and signaling and will expand on how changes to these essential processes can be related to disease and abnormal phenotypes previously discovered.

Department: Biological Sciences

Faculty Mentor: Dr. Lisa Prichard