Genetic analysis of medaka fish illuminates conserved and divergent roles of Pax6 in vertebrate eye development.

ABSTRACT: Landmark discovery of eye defects caused by Pax6 gene mutations in humans, rodents, and even fruit flies combined with Pax6 gene expression studies in various phyla, led to the master control gene hypothesis postulating that the gene is required almost universally for animal visual system development. However, this assumption has not been broadly tested in genetically trackable organisms such as vertebrates. Here, to determine the functional role of the fish orthologue of mammalian Pax6 in eye development we analyzed mutants in medaka Pax6.1 gene generated by genome editing. We found that transcription factors implicated in vertebrate lens development (Prox1a, MafB, c-Maf, FoxE3) failed to initiate expression in the presumptive lens tissue of Pax6.1 mutant fish resulting in aphakia, a phen

SUBMITTER: Mikula Mrstakova S 

PROVIDER: S-EPMC11541176 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature