Journal Article

PreJuSER-54920

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Retinitis Pigmentosa Asssociated with Rhodopsin Mutations: Correlation between Phenotypic Variability and Molecular Effects.

Iannaccone, A. ; Man, D. ; Waseem, N. ; Jennings, B. J. ; Ganapathiraju, M. ; Gallaher, K. ; Reese, E. ; Bhattacharya, S. S. ; Klein-Seetharaman, J.FZJ*

2006
Elsevier Science Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.visres.2006.08.018

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.

Keyword(s): Adolescent (MeSH) ; Adult (MeSH) ; Age Factors (MeSH) ; Amino Acid Substitution (MeSH) ; Child (MeSH) ; Child, Preschool (MeSH) ; Computational Biology (MeSH) ; DNA Mutational Analysis (MeSH) ; Disease Progression (MeSH) ; Electroretinography (MeSH) ; Female (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Mutation (MeSH) ; Pedigree (MeSH) ; Peptide Fragments: genetics (MeSH) ; Phenotype (MeSH) ; Retinitis Pigmentosa: genetics (MeSH) ; Retinitis Pigmentosa: metabolism (MeSH) ; Rhodopsin: genetics (MeSH) ; Rhodopsin: metabolism (MeSH) ; Rod Cell Outer Segment: metabolism (MeSH) ; Vision, Ocular (MeSH) ; Peptide Fragments ; Rhodopsin ; J ; retinitis pigmentosa (auto) ; rhodopsin (auto) ; visual function (auto) ; phenotype (auto) ; protein stability prediction (auto) ; membrane protein misfolding (auto)

Note: Record converted from VDB: 12.11.2012

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Contributing Institute(s):

1. Biologische Strukturforschung (IBI-2)

Research Program(s):

1. Funktion und Dysfunktion des Nervensystems (P33)

Appears in the scientific report 2006

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