CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.

ABSTRACT: Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone assembly during ciliogenesis and neuronal differentiation in the retina, caused late-onset retinitis pigmentosa in 2 unrelated families. The mutant CEP162-E646R*5 protein was expressed and properly localized to the mitotic spindle, but it was missing from the basal body in primary and photoreceptor cilia. This impaired recruitment of transition zone components to the basal body and corresponded to complete loss of CEP162 function at the ciliary compartment, reflected by delayed formation of dy

SUBMITTER: Nuzhat N 

PROVIDER: S-EPMC10104899 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature