Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.

ABSTRACT:

Purpose

To identify the mutation and cell biological underpinnings of photoreceptor defects in zebrafish au5 mutants.

Methods

Whole genome sequencing and SNP mapping were used to determine the genomic interval that harbors the au5 mutation. A candidate mutation was cloned and sequenced, and mRNA rescue used to validate that the affected gene was correctly identified. In situ hybridization, immunohistochemistry, and confocal imaging were used to determine the effects on photoreceptor development and maintenance in mutant retinae, and to determine if ciliogenesis or cilia-dependent development was affected in mutant embryos. Expression of tagged proteins and high-speed in vivo confocal imaging was used to quantify intraflagellar transport (IFT) and IFT particle localization wi

SUBMITTER: Lee C 

PROVIDER: S-EPMC4109403 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature