Research Mentor(s): Lev Prasov, Assistant Professor
Research Mentor School/College/Department: Ophthalmology and Visual Sciences; Human Genetics, Michigan Medicine
Presentation Date: Thursday, April 22, 2021
Session: Session 1 (10am-10:50am)
Breakout Room: Room 14
Vision is critical to quality of life. Diseases of the retina, which senses light and sends signals to the brain, can lead to significant vision impairment. One such disease called nanophthalmos affects the overall growth of the eye and can be associated with genetic mutations in the myelin regulatory factor (MYRF) gene. In this project, we use a mouse model to examine the role of the MYRF as a regulator of eye development and disease in the RPE, and to define new genes that could be implicated in retinal disease. Myrf is a transcription factor expressed in the retinal pigment epithelium (RPE), a supporting cell in the retina. We utilized single cell RNA sequencing, scRNA, from mouse eye cups, at varying stages of development to compare gene expression profiles with wild-type eye cups to those loss of Myrf. We used Seurat software for analysis to identify genes that are differently expressed in these two genotypes among different cell types to provide clues into how MYRF impairs eve development. We hypothesize that genes involved in pigmentation and structure of the RPE will be most affected by loss of MYRF, given that mice lacking MYRF have pigmentary defects and develop retina degeneration. To identify which of the genes regulated by MYRF could be implicated in retinal disease, we have also used Clinvar, an online database to search for diseases associated with genes and their allele variants. We have found approximately seventy-seven genes that are likely regulated by MYRF, but not yet linked to human disease, which will now be screened for variants in disease populations. This project will further our understanding of eye disease caused by MYRF mutations, discover genes regulated by mouse Myrf in eye development, and may lead to new targets for treatments.