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General Information
Name
cancer, epithelial, compromised apoptosis and DNA repair defects
FlyBase ID
FBhh0001053
Disease Ontology Term
Parent Disease
OMIM
Overview

In a background of apoptosis-deficient cells in imaginal discs, X-irradiation results in tumorigenic phenotypes, including overgrowth of targeted cells within the disc and delamination of the epithelium (see FBhh0001040). The additional effects of reduced function of genes involved in DNA repair have been assessed. RNAi-mediated reduction of okr (orthologous to human RAD54L) or spn-A (orthologous to human RAD51) enhance the tumorigenic phenotypes; these genes are required for homologous recombination repair of DNA double-strand breaks in G2. In contrast, loss-of-function mutation of a gene required for nonhomologous end-joining repair in G1, the ligase DNAlig4, has no effect.

[updated Jun. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, epithelial, compromised apoptosis and DNA repair defects
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
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (2)
      Gene Snapshot
      okra (okr) encodes a helicase involved in homologous DNA repair. It functions in meiotic recombination. [Date last reviewed: 2019-03-14]
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human RAD54L (multiple in both species). Dmel\okr shares 55% identity and 72% similarity with human RAD54L. Dmel\okr shares 39% identity and 56% similarity with the low-scoring human ortholog RAD54B.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Gene Snapshot
      spindle A (spn-A) encodes a protein that forms a filament on single-stranded DNA, does a homology search of double-stranded DNA, and catalyzes strand exchange, swapping the single-strand DNA in and displacing the partner of the complementary strand. [Date last reviewed: 2019-03-14]
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human RAD51 (multiple in both species). Dmel\spn-A shares 63% identity and 76% similarity with the human gene.

      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 (1)
      Summary of Physical Interactions (5 groups)
      protein-protein
      Interacting group
      Assay
      References
      anti tag coimmunoprecipitation, anti tag western blot, ion exchange chromatography, peptide massfingerprinting
      pull down, autoradiography, Identification by mass spectrometry
      anti tag coimmunoprecipitation, anti tag western blot, pull down, autoradiography, two hybrid
      anti bait coimmunoprecipitation, anti tag western blot, proximity ligation assay, fluorescence microscopy
      protein-protein
      Interacting group
      Assay
      References
      anti tag coimmunoprecipitation, anti tag western blot
      Alleles Reported to Model Human Disease (Disease Ontology) (6 alleles)
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 2 )
      Allele
      Disease
      Interaction
      References
      Models Based on Experimental Evidence ( 0 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      Models Based on Experimental Evidence ( 1 )
      Modifiers Based on Experimental Evidence ( 3 )
      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
      loss of function allele
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      ethyl methanesulfonate
      References (3)