Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA^CEP290 patients.

ABSTRACT:

Purpose

The rdAc cat has an intronic mutation in the centrosomal 290 kDa (CEP290) gene resulting in a frameshift and a premature stop codon (c.6960 + 9 T > G, p.Ile2321AlafsTer3) predicted to truncate the protein by 157 amino acids. CEP290 mutations in human patients cause a range or phenotypes including syndromic conditions and severe childhood loss of vision while the rdAc cat has a milder phenotype. We sought to further characterize the effect of rdAc mutation on CEP290 expression.

Methods

TaqMan quantitative real-time polymerase chain reaction assays were used to compare wildtype and truncated transcript levels. Relative protein abundance was analyzed by Western blot. Immunohistochemistry (IHC) was performed to detect CEP290 protein.

Results

CEP290 mutant cats sho

SUBMITTER: Minella AL 

PROVIDER: S-EPMC10107307 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature