Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Mutant rhodopsin transgene expression on a null background.

J M Frederick1, N V Krasnoperova, K Hoffmann

  • 1John A. Moran Eye Center, University of Utah Health Science Center, 50 North Medical Drive, Salt Lake City, UT 04132, USA. jfrederi@hsc.utah.edu

Investigative Ophthalmology & Visual Science
|February 27, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments.

Proceedings of the National Academy of Sciences of the United States of America·2007
Same author

[Migrant patients in forensic psychiatry. An epidemiological survey from Baden-Württemberg].

Der Nervenarzt·2004
Same author

A comprehensive index for the modeling of smoking history in periodontal research.

Journal of dental research·2004
Same author

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses.

Bioinformatics (Oxford, England)·2004
Same author

Acute effect of solar-simulated radiation on epidermal thickness assessed by confocal laser scanning microscopy in vivo.

Journal of the European Academy of Dermatology and Venereology : JEADV·2004
Same author

[Entrapment-syndrome of the popliteal artery: morphological and functional diagnosis using MRT inclusive provocation test].

VASA. Zeitschrift fur Gefasskrankheiten·2004
Same journal

Impact of Subretinal Drusenoid Deposits on Ellipsoid Zone-Related Thickness Metrics.

Investigative ophthalmology & visual science·2026
Same journal

Proteomic Profiling of Optic Nerves From SMOX-Deficient Mice Identifies Regulators of Neuroinflammation and Axonal Damage in Optic Neuritis.

Investigative ophthalmology & visual science·2026
Same journal

Aflibercept and Faricimab Equipotently Restore Endothelial Barrier Function.

Investigative ophthalmology & visual science·2026
Same journal

Spatial Decomposition of Longitudinal RNFL Maps Reveals Distinct Modes of Glaucomatous Progression With Structure-Function and Genetic Signatures.

Investigative ophthalmology & visual science·2026
Same journal

The CXXC1-IGFBP6 Axis Maintains Corneal Epithelial Differentiation via H3K4me3-Dependent Transcriptional Activation.

Investigative ophthalmology & visual science·2026
Same journal

Archetypal Visual Field Analysis of Patients With Chronic Leber Hereditary Optic Neuropathy in Relation to Visual Recovery.

Investigative ophthalmology & visual science·2026
See all related articles

Autosomal dominant retinitis pigmentosa (adRP) involves mutant rhodopsin protein mislocalization and dimerization, leading to photoreceptor degeneration. This study reveals the cytotoxic effects of mutant rhodopsin, likely triggering an unfolded protein response.

Area of Science:

  • Ophthalmology
  • Genetics
  • Cell Biology

Background:

  • Autosomal dominant retinitis pigmentosa (adRP) is a group of inherited retinal diseases.
  • Mutations in the rhodopsin gene are a common cause of adRP.
  • Understanding the mechanisms of photoreceptor degeneration is crucial for developing treatments.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying photoreceptor degeneration in mouse models of adRP.
  • To study the behavior and effects of a specific rhodopsin mutation (P23H) in vivo.

Main Methods:

  • Generation of a transgenic mouse model expressing a triple rhodopsin mutant (V20G, P23H, P27L) crossed with rhodopsin knockout mice.
  • Histological analysis of outer nuclear layer thickness and outer segment formation.

Related Experiment Videos

  • Immunocytochemical analysis to determine the fate of mutant rhodopsin.
  • Electroretinogram (ERG) to assess photoreceptor function.

    • Main Results:

    • Mice expressing the GHL-rhodopsin mutant exhibited severe retinopathy by postnatal day 30, especially in the absence of wild-type rhodopsin.
    • GHL-rhodopsin predominantly formed homodimers and localized to the endoplasmic reticulum (ER), with low expression levels.
    • No outer segment formation was observed, and the mutant protein failed to support a scotopic ERG a-wave.

    Conclusions:

    • GHL-rhodopsin dimerizes, mislocalizes to the ER, and prevents outer segment development, indicating a cytotoxic effect.
    • The mutant protein accelerates photoreceptor degeneration, suggesting an unfolded protein response is involved.
    • These findings provide insights into the pathogenesis of adRP caused by rhodopsin mutations.