Modification of porcine rhodopsin by CRISPR/Cas9 : towards a model for Retinitis Pigmentosa

Abstract

[ACCESS RESTRICTED TO THE UNIVERSITY OF MISSOURI AT REQUEST OF AUTHOR.] Retinitis Pigmentosa (RP) is a disease characterized by progressive vision loss, which affects approximately 1 in 4,000 people in the United States. P23H is the most common mutation causing RP, and occurs when a single base pair is changed from a C to an A. Due to the anatomical and physiological similarity between humans and pigs, a swine model of P23H RP would facilitate further research of potential treatments. Biotechnology and gene targeting was used in order to break the swine genome and fix the DNA break via homology directed repair to generate the swine model. Site-specific DNA breaks were generated, but there were no confirmed instances of homology directed repair in either cell culture or microinjection. Therefore the P23H swine model was not created. The ability to promote homology directed repair would greatly benefit genetic engineering for the production of biomedical models of human disease.