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General Information
Name
retinal disease, rhodopsin-related
FlyBase ID
FBhh0000219
Disease Ontology Term
Parent Disease
OMIM
Overview

This report encompasses fly models of various retinal diseases in which a rhodopsin gene is implicated as the causative gene. There are multiple rhodopsins in both human and flies, with complicated orthologous relationships; see the FlyBase Gene Groups report RHODOPSINS (FBgg0000070) for information about the Drosophila genes. Four of the human genes (RHO, OMIM:180380; OPN1LW, OMIM:300822; OPN1SW, OMIM:613522; and OPN1MW, OMIM:300821) are associated with retinal diseases, including retinitis pigmentosa, color blindness, and night blindness. The Drosophila rhodopsin ninaE has been used in several studies to model retinal disease; classical amorphic and hypomorphic alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated for this gene.

None of the human rhodopsins that have been implicated in retinal disease has been introduced into flies. A UAS construct of the human gene most closely related to nina, Hsap\OPN4, has been introduced into flies; this gene has not been implicated in disease in human and has not been studied in the context of this disease model.

A mutational lesion of Dmel\ninaE analogous to a variant of the human gene RHO implicated in a form of retinitis pigmentosa has been studied. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): P37H in the fly ninaE gene (corresponds to P23H in the human RHO gene). See the human disease model report for retinitis pigmentosa 4 (FBhh0000199).

In animals carrying null mutations of Dmel\ninaE, the adult compound eye does not develop normally. There are defects in the rhabdomeres of photoreceptor cells R1-R6; progressive retinal degeneration is observed. Phenotypic assays using the fly gene have allowed characterization of genetic interactions. Physical interactions of the ninaE protein product have been described; see below and in the FlyBase gene report for ninaE.

[updated Apr. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: retinal disease, rhodopsin-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many: both humans and flies have multiple rhodopsin and opsin genes; Dmel\ninaE and Dmel\Rh6 are the best hits for human RHO and several other human genes. RHO and Dmel\ninaE share an extracellular amino domain not found in all rhodopsins.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      neither inactivation nor afterpotential E (ninaE) encodes a protein that plays a major role in light detection and vision. It is the rhodopsin expressed in the largest class of photoreceptors in the adult retina. The stimulation by light of the product of ninaE induces G-protein signaling activation, the opening of the channels encoded by trp and trpl and photoreceptor cell membrane depolarization. [Date last reviewed: 2019-03-14]
      Gene Groups / Pathways
      Comments on ortholog(s)

      Ortholog of human genes OPN4 (reciprocal best hit); lower-scoring ortholog of OPN1LW, RHO and multiple other human opsin genes (multiple Drosophila to multiple human). Dmel\ninaE shares 27-34% identity and 46-51% similarity with these human genes.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (15 groups)
        protein-protein
        Interacting group
        Assay
        References
        cosedimentation in solution, western blot, inferred by author, anti bait coimmunoprecipitation, cosedimentation, affinity technology, autoradiography
        anti bait coimmunoprecipitation, western blot, pull down
        anti tag coimmunoprecipitation, anti tag western blot
        pull down, western blot
        anti bait coimmunoprecipitation, western blot, pull down, autoradiography
        pull down, western blot
        anti tag coimmunoprecipitation, western blot
        anti tag coimmunoprecipitation, western blot
        anti tag coimmunoprecipitation, anti tag western blot
        pull down, western blot
        anti bait coimmunoprecipitation, western blot
        anti bait coimmunoprecipitation, western blot
        western blot, anti bait coimmunoprecipitation
        pull down, western blot
        RNA-protein
        Interacting group
        Assay
        References
        anti tag coimmunoprecipitation, quantitative reverse transcription pcr
        Alleles Reported to Model Human Disease (Disease Ontology) (8 alleles)
        Models Based on Experimental Evidence ( 7 )
        Modifiers Based on Experimental Evidence ( 7 )
        Allele
        Disease
        Interaction
        References
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Selected mammalian transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        ethyl methanesulfonate
        ethyl methanesulfonate
        loss of function allele
        gamma ray
        amorphic allele - genetic evidence
        ethyl methanesulfonate
        loss of function allele
        ethyl methanesulfonate
        amorphic allele - genetic evidence
        ethyl methanesulfonate
        References (22)