Abstract
Purpose :
PRCD is a small photoreceptor disc specific protein whose C2Y mutation is a common cause of blinding canine retinal disease called progressive rod-cone degeneration (prcd). This exact mutation, and several others have been identified in human patients diagnosed with retinitis pigmentosa. After we showed that this point mutation completely mislocalizes the protein from discs, and that PRCD is a rhodopsin binding protein, we generated a PRCD knockout mouse to ascertain its function in the outer segment.
Methods :
PRCD knockout mice were generated and their retinas analyzed by electron microscopy, electroretinogram, immunofluorescence staining, and Western blotting.
Results :
PRCD knockout mouse photoreceptors degenerate at a similar rate as dogs containing a C2Y mutation in the protein. As evident by electron microscopy, the outer segments from these mice have a structural defect, and many of them are completely disorganized. This pheotype persists despite normal single rod photoresponses and normal localization and abundance of all tested outer segment proteins.
Conclusions :
PRCD is essential for the highly organized structure of the photoreceptor outer segment.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.