title: RDS Functional Domains and Dysfunction in Disease.
abstract: The photoreceptor specific tetraspanin protein retina degeneration slow (RDS) is a critical component of the machinery necessary for the formation of rod and cone outer segments. Over 80 individual pathogenic mutations in RDS have been identified in human patients that lead to a wide variety of retinal degenerative diseases including retinitis pigmentosa, cone-rod dystrophy, and various forms of macular dystrophy. RDS-associated disease is characterized by a high degree of variability in phenotype and penetrance, making analysis of the underlying molecular mechanisms of interest difficult. Here we summarize our modern understanding of RDS functional domains and oligomerization and how disruption of these domains and complexes could contribute to the variety of disease pathologies seen in human patients with RDS mutations.
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, 940 Stanton L. Young Blvd., BMSB 781, 73104, Oklahoma City, OK, USA. mstuck@ouhsc.edu.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Stuck
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, 940 Stanton L. Young Blvd., BMSB 781, 73104, Oklahoma City, OK, USA. Shannon-conley@ouhsc.edu.
authors.forename: Shannon M
authors.initials: SM
authors.lastname: Conley
authors.affiliation: Department of Cell Biology, University of Oklahoma Health Sciences Center, 940 Stanton L. Young Blvd., BMSB 781, 73104, Oklahoma City, OK, USA. muna-naash@ouhsc.edu.
authors.forename: Muna I
authors.initials: MI
authors.lastname: Naash
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D009154:Mutation; D064531:Peripherins / Q000737:chemistry / Q000235:genetics*; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology; D055503:Protein Multimerization; D017434:Protein Structure, Tertiary; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C578997:PRPH2 protein, human; D064531:Peripherins
keywords: Macular degeneration; Outer segment; Pattern dystrophy; RDS; Retinal degeneration; Retinal degeneration slow; Retinitis pigmentosa