The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors.
Haploinsufficiency because of a null mutation in the gene encoding peripherin/rds has been thought to be the primary defect associated with the photoreceptor degeneration seen in the retinal degeneration slow (rds) mouse. We have compared the effects of this haploinsufficiency on rod and cone photoreceptors by measuring the levels of rod- and cone-specific gene expression, by determining the relative rates of rod and cone degeneration, and by electroretinography. These analyses were performed at ages before and after the onset of degeneration of the photoreceptor cells. The data were consistent in demonstrating that measures for cone photoreceptors are relatively spared in comparison to comparable measures for rod photoreceptors. Blue cones were retained in higher number than red/green cones for the first 3 months of the degeneration. Our results indicate that the haploinsufficiency present in rds/+ mice has a greater impact on the rod than on the cone photoreceptor, a finding that likely reflects the tight regulation of peripherin/rds and the need for two functional alleles to assemble the structure of the rod outer segment and/or differences between the ultrastructure of the rod and cone outer segments.
Cheng
T
T
Department of Genetics, University of Illinois at Chicago, College of Medicine, Chicago, Illinois 60612, USA.
Peachey
N S
NS
Li
S
S
Goto
Y
Y
Cao
Y
Y
Naash
M I
MI
D000818:Animals; D004596:Electroretinography; D005136:Eye Proteins / Q000096:biosynthesis / Q000235:genetics; D005786:Gene Expression Regulation; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D007381:Intermediate Filament Proteins / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D008562:Membrane Glycoproteins; D051379:Mice; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics; D064531:Peripherins; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D017949:Retinal Cone Photoreceptor Cells / Q000737:chemistry / Q000502:physiology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000737:chemistry / Q000502:physiology*; D017299:Rod Opsins / Q000096:biosynthesis / Q000235:genetics
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; C578996:Prph2 protein, mouse; D012333:RNA, Messenger; D017299:Rod Opsins; C095853:short-wavelength opsin