Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock-in mouse model.

Rhodopsin mislocalization encompasses various blind conditions. Rhodopsin mislocalization is the primary factor leading to rod photoreceptor dysfunction and degeneration in autosomal dominant retinitis pigmentosa (adRP) caused by class I mutations. In this study, we report a new knock-in mouse model that harbors a class I Q344X mutation in the endogenous rhodopsin gene, which causes rod photoreceptor degeneration in an autosomal dominant pattern.

; Zebrafish Reveals Lrp5 Can Be the Receptor of Retinol in the Visual Cycle.

Vision is essential for vertebrates including humans. Sustained vision is accomplished by retinoid metabolism, the "visual cycle," where all- retinol (atROL) is incorporated into the retinal pigment epithelium (RPE) from photoreceptors presumably through decade-long missing receptor(s). Here, we show that the LDL-related receptor-5 (Lrp5) protein is linked to the retinol binding protein 1a (Rbp1a), the transporter of atROL in the visual cycle, by generating and analyzing the digenic ; zebrafish, the same form of gene defect detected in a human case of inherited retinal degeneration.

Intra- and interspecies comparison of transcripts highlights its characteristics in the eye.

Inherited mutations in the eyes shut homolog () gene cause retinitis pigmentosa. Although knock out of in zebrafish is pathogenic, the molecular function of in vertebrate photoreceptors is poorly understood. Here, we show that the 5' portion of is eye-specific across vertebrates.

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation.

Background: Generation of induced photoreceptors holds promise for in vitro modeling of intractable retinal diseases. Retinitis pigmentosa is an inherited retinal dystrophy that leads to visual impairment. The EYS gene was reported to be the most common gene responsible for autosomal recessive retinitis pigmentosa (arRP).

Effects of NDRG1 family proteins on photoreceptor outer segment morphology in zebrafish.

Rods and cones are functionally and morphologically distinct. We previously identified N-myc downstream-regulated gene 1b (ndrg1b) in carp as a cone-specific gene. Here, we show that NDRG1b and its paralog, NDRG1a-1, contribute to photoreceptor outer segment (OS) formation in zebrafish.