ArticleBiochemistry2010
Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene.
Article in Biochemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 28 citations in OpenAlex.
- Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.medRxiv : the preprint server for health sciences · 2026Article
- Article
- ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.bioRxiv : the preprint server for biology · 2023Article
- Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Cellular and molecular life sciences : CMLS · 2023Article
- Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.Investigative ophthalmology & visual science · 2022Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- A gene therapy for inherited blindness using dCas9-VPR-mediated transcriptional activation.Science advances · 2020Article
- The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.Human molecular genetics · 2019Article
- Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.Human molecular genetics · 2017Article
- A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Eye (London, England) · 2016Review
- PRPH2/RDS and ROM-1: Historical context, current views and future considerations.Progress in retinal and eye research · 2016Review
- Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS·ROM-1 Protein Complex Formation.The Journal of biological chemistry · 2015Article
- Article
- The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.Human molecular genetics · 2014Article
- Gene therapy for PRPH2-associated ocular disease: challenges and prospects.Cold Spring Harbor perspectives in medicine · 2014Review
- Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Human molecular genetics · 2014Article
- Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome.PloS one · 2013Article
- Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.The FEBS journal · 2013Article
- Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina.PloS one · 2011Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the protein product of the retinal degeneration slow (RDS) gene cause both rod-dominant retinitis pigmentosa and different forms of cone-dominant macular dystrophies. In particular, mutations in codon 244 can cause either of these types of disease. In this study, we examine the biochemical effects of N244H and N244K in an effort to understand the mechanism underlying rod- and cone-dominant defects, respectively. COS-1 cells were cotransfected with either wild-type (WT) RDS or RDS containing an N244H or N244K mutation along with its binding partner, ROM-1 (rod outer segment membrane protein 1). Cell extracts were analyzed for mutant protein stability by Western blot, and localization was examined by immunocytochemistry. Interactions between transfected proteins were assessed by reciprocal co-immunoprecipitation, and nonreducing velocity sedimentation was used to identify the pattern of RDS complex assembly. Interactions were confirmed using GST fusion constructs of WT and mutant RDS in GST pull-down assays from WT mouse retinal extract. In COS-1 cells, recombinant N244H RDS had a weakened ability to assemble into higher-order complexes but retained the ability to co-immunoprecipitate with ROM-1 as well as localize properly throughout the cells. In contrast, recombinant N244K protein did not associate with ROM-1, showed signs of protein aggregation, and colocalized with an ER marker. These experiments support the hypothesis that RDS mutations that interrupt higher-order oligomer formation but still interact with ROM-1 and fold properly in membranes may cause dominant, gain-of-function disease phenotypes while mutations that cause RDS misfolding (and thus incorrect trafficking and assembly) may be associated with a loss-of-function haploinsufficiency phenotype.
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