The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.

ABSTRACT: RAB28, a member of the RAS oncogene family, is a ubiquitous, farnesylated, small GTPase of unknown function present in photoreceptors and the retinal pigmented epithelium (RPE). Nonsense mutations of the human RAB28 gene cause recessive cone-rod dystrophy 18 (CRD18), characterized by macular hyperpigmentation, progressive loss of visual acuity, RPE atrophy, and severely attenuated cone and rod electroretinography (ERG) responses. In an attempt to elucidate the disease-causing mechanism, we generated Rab28^-/- mice by deleting exon 3 and truncating RAB28 after exon 2. We found that Rab28^-/- mice recapitulate features of the human dystrophy (i.e. they exhibited reduced cone and rod ERG responses and progressive retina degeneration). Cones of <

SUBMITTER: Ying G 

PROVIDER: S-EPMC6231133 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature