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Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

Nature genetics | Dec 21, 1998

http://www.ncbi.nlm.nih.gov/pubmed/9843205

Mutation of RPE65 can cause severe blindness from birth or early childhood, and RPE65 protein is associated with retinal pigment epithelium (RPE) vitamin A metabolism. Here, we show that Rpe65-deficient mice exhibit changes in retinal physiology and biochemistry. Outer segment discs of rod photoreceptors in Rpe65-/- mice are disorganized compared with those of Rpe65+/+ and Rpe65+/- mice. Rod function, as measured by electroretinography, is abolished in Rpe65-/- mice, although cone function remains. Rpe65-/- mice lack rhodopsin, but not opsin apoprotein. Furthermore, all-trans-retinyl esters over-accumulate in the RPE of Rpe65-/- mice, whereas 11-cis-retinyl esters are absent. Disruption of the RPE-based metabolism of all-trans-retinyl esters to 11-cis-retinal thus appears to underlie the Rpe65-/- phenotype, although cone pigment regeneration may be dependent on a separate pathway.

Pubmed ID: 9843205 RIS Download

Mesh terms: Animals | Carrier Proteins | Esters | Eye Proteins | Mice | Mice, Knockout | Microscopy, Electron | Mutation | Phenotype | Proteins | Retina | Retinal Rod Photoreceptor Cells | Rhodopsin | Vision, Ocular | Vitamin A | cis-trans-Isomerases

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Associated grants

  • Agency: NEI NIH HHS, Id: EY00331
  • Agency: NEI NIH HHS, Id: EY00444
  • Agency: NEI NIH HHS, Id: EY12231

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