Abstract
RPE65 is a highly expressed, conserved retinal pigment epithelium (RPE)-specific protein preferentially associated with the RPE microsomal membrane fraction, although it is not an integral membrane protein. Comparison of bovine, human, rat, mouse, dog, and salamander RPE65s shows a rather high degree of conservation of this protein and Northern analysis detects RPE65 mRNA only in RPE. In neonatal rats, morphologically well-differentiated RPE cells do not express RPE65 at birth but it is detectable on postnatal day 4 (P4), that is, 1–2 days before the photoreceptors develop their outer segments (OS). This chapter describes the methods and reagents that have been used for the characterization of mutations in human RPE65 and for the genetic analysis of knockout mice and how such studies are helping in our understanding of the function of RPE65. RPE65 mutations resulting in amino acid substitutions can cause early- or late-onset disease depending on the residue changed, while null mutations invariably cause severe early-onset changes in the vision of both humans and mice.
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