Hannah Pittman

Pronouns: She, her
Research Mentor(s): Lev Prasov
Research Mentor School/College/Department: Ophthalmology and Visual Sciences; Human Genetics / Medicine
Program: CG
Session: Session 4 (1:40pm – 2:30pm)
Authors: Hannah Pittman, Michelle Brinkmeier, Lev Prasov
Abstract
Nanophthalmos is a condition characterized by the presence of small eyes, hyperopia, and vision impairment. The Prasov Lab previously identified mutations in transcription factor MYRF associated with nanophthalmos, and showed impairment in retinal pigment epithelial (RPE) development in a loss-of-function mouse model (Garnai et al., 2019). MYRF encodes a membrane-associated protein that self-cleaves, releasing a functional transcription factor. MYRF is highly expressed in the RPE cells of the eye and has a role in establishing myelination in the central nervous system. Our current research aims to use OTX2 antibody staining and TUNEL apoptosis staining in the previously described RxCre;Myrf fl/fl line to confirm our hypothesis that RPE death occurs on embryonic day 14.5 (e14.5) and evaluate differences in retinal progenitor cells (RPCs). Preliminary results indicate RPE cell death is detected at e14.5 in mutants, however, no change in RPCs is observed. Also, we are investigating related Tgfß/BMP signaling using antibody staining and RNAscope in situ hybridization. Our final results will elucidate the effect of MYRF in early RPE development.



