Retinal degeneration in rpgra mutant zebrafish.

ABSTRACT: Introduction: Pathogenic mutations in RPGR ^ORF15, one of two major human RPGR isoforms, were responsible for most X-linked retinitis pigmentosa cases. Previous studies have shown that RPGR plays a critical role in ciliary protein transport. However, the precise mechanisms of disease triggered by RPGR ^ORF15 mutations have yet to be clearly defined. There are two homologous genes in zebrafish, rpgra and rpgrb. Zebrafish rpgra has a single transcript homologous to human RPGR ^ORF15; rpgrb has two major transcripts: rpgrb ^ex1-17 and rpgrb ^ORF15, similar to human RPGR ^ex1-19 and RPGR ^O

SUBMITTER: Liu X 

PROVIDER: S-EPMC10282147 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature