Spata7 is required for maintenance of the retinal connecting cilium.

ABSTRACT: SPATA7, an early onset LCA3 retinal disease gene, encodes a putative scaffold protein that is essential for the proper assembly of the connecting cilium (CC) complex in photoreceptors. Previous studies have shown that SPATA7 interacts with other photoreceptor-specific ciliary proteins, such as RPGR and RPGRIP1, and maintains the integrity of CC integrity. However, although it is known that Spata7 is required for early formation of the CC, it is unclear if Spata7 is also required for the maintenance of the CC. To investigate Spata7 function in the retina at the adult stage, loss of function was induced in the adult retina upon tamoxifen induction of an inducible Spata7 knockout allele (Spata7^flox/-; UbcCreERT2/⁺). The phenotype of mutant retina was characterized by a c

SUBMITTER: Lu J 

PROVIDER: S-EPMC8976851 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature