Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

Alessandro Iannaccone, David Man, Naushin Waseem, Barbara J. Jennings, Madhavi Ganapathiraju, Kevin Gallaher, Elisheva Reese, Shomi S. Bhattacharya, Judith Klein-Seetharaman

Research output: Contribution to journalArticlepeer-review

52 Scopus citations

Abstract

Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability.

Original languageEnglish (US)
Pages (from-to)4556-4567
Number of pages12
JournalVision Research
Volume46
Issue number27
DOIs
StatePublished - Dec 2006
Externally publishedYes

Keywords

  • Membrane protein misfolding
  • Phenotype
  • Protein stability prediction
  • Retinitis pigmentosa
  • Rhodopsin
  • Visual function

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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