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Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells
Published on: December 12, 2014
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C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish
Julio C Corral-Serrano1,2, Muriël Messchaert1,3, Margo Dona3,4
1Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Scientific Reports
|June 28, 2018
Summary
Mutations in the photoreceptor cilium actin regulator (PCARE) gene cause vision defects. A zebrafish model lacking pcare1 shows disrupted photoreceptor structure and impaired vision, confirming PCARE
Area of Science:
- Genetics and Molecular Biology
- Ophthalmology
- Developmental Biology
Background:
- Mutations in C2orf71 cause inherited retinal diseases like retinitis pigmentosa.
- The protein is crucial for modulating the ciliary membrane via actin assembly.
- The gene has been renamed PCARE (photoreceptor cilium actin regulator).
Purpose of the Study:
- To investigate the function of PCARE in vivo.
- To generate and characterize a zebrafish model for PCARE deficiency.
- To assess the conservation of PCARE function across species.
Main Methods:
- Identified two zebrafish pcare genes: pcare1 and pcare2.
- Generated a pcare1 mutant zebrafish line using CRISPR/Cas9 technology.
- Analyzed retinal structure, visual behavior (optokinetic and visual motor responses), and retinal function (electroretinography).
Main Results:
- pcare1 mutant zebrafish exhibited disorganization of photoreceptor outer segments.
- Larvae showed visual impairment in behavioral tests.
- Electroretinograms revealed decreased b-wave amplitudes, indicating defective transretinal current.
Conclusions:
- Lack of pcare1 in zebrafish leads to a distinct retinal phenotype.
- The findings support the conserved role of PCARE in maintaining photoreceptor integrity and function.
- This study validates the zebrafish model for investigating PCARE-related retinal disorders.
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