EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.

ABSTRACT:

Purpose

Mutations in the EYS gene are a common cause of autosomal recessive retinitis pigmentosa (arRP), yet the role of the EYS protein in humans is presently unclear. The aim of this study was to investigate the isoform structure, expression and potential function of EYS in the mammalian retina in order to better understand its involvement in the pathogenesis of arRP.

Methods

To achieve the objective, we examined the expression of mRNA transcripts of EYS isoforms in human tissues and cell lines by RT-PCR. We also investigated the localisation of EYS in cultured cells and retinal cryo-sections by confocal fluorescence microscopy and Western blot analysis.

Results

RT-PCR analysis confirmed that EYS has at least four isoforms. In addition to the previously reported EYS

SUBMITTER: Alfano G 

PROVIDER: S-EPMC5112921 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature