RP1 Is Required for the Correct Stacking of Outer Segment Discs

Abstract

The presence of mutant RP1 mRNA in lymphoblasts from patients with RP1 disease implies that the mutant message can escape nonsense-mediated mRNA decay and that a truncated RP1 protein may be produced in the retina. The truncated Rp1-myc protein appears to be nonfunctional, and not to exert a dominant negative effect in the photoreceptors of heterozygous mice. Results from homozygous Rp1-myc mice indicate that RP1 is required for the correct orientation and higher order stacking of outer segment discs.