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

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• 作者：Aless ; ro Iannaccone ; David Man ; Naushin Waseem ; Barbara J. Jennings ; Madhavi Ganapathiraju ; Kevin Gallaher ; Elisheva Reese ; Shomi S. Bhattacharya ; Judith Klein-Seetharaman
• 关键词：Retinitis pigmentosa ; Rhodopsin ; Visual function ; Phenotype ; Protein stability prediction ; Membrane protein misfolding
• 刊名：Vision Research
• 出版年：2006
• 出版时间：December 2006
• 年：2006
• 卷：46
• 期：27
• 页码：4556-4567
• 全文大小：1478 K

文摘

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.