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General Information
Name
branchiootorenal syndrome 1
FlyBase ID
FBhh0000464
Disease Ontology Term
Parent Disease
Overview

This report includes information about branchiootorenal syndrome 1 (BOR1), which is one of several related autosomal dominant diseases associated with the human gene EYA1; see the human disease model report for 'branchiootorenal spectrum disorders, EYA1-related' (see FBhh0000463).

Variant(s) implicated in human disease tested (as analogous mutation in fly gene): G594S in the fly eya gene [corresponds to G393S (G426S) in the human EYA1 gene]; S655P in the fly eya gene [corresponds to S454P (S487P) in the human EYA1 gene]; L673R in the fly eya gene [corresponds to L472R (L505R) in the human EYA1 gene].

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: branchiootorenal syndrome 1
OMIM report
[BRANCHIOOTORENAL SYNDROME 1; BOR1](https://omim.org/entry/113650)
Human gene(s) implicated
[EYA TRANSCRIPTIONAL COACTIVATOR AND PHOSPHATASE 1; EYA1](https://omim.org/entry/601653)
Symptoms and phenotype
Branchiootorenal syndrome BOR) is characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity are observed (Fraser et al., 1978; pubmed:263442). [from OMIM:113650; 2017.01.06]
Genetics
Branchiootorenal syndrome 1 (BOR1) is caused by heterozygous mutation in the EYA1 gene (autosomal dominant). [from OMIM:113650; 2017.01.06]
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
BOR1
branchiootorenal syndrome 1, with or without cataracts
branchiootorenal dysplasia
Melnick-Fraser syndrome
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    Many to one: 4 human to 1 Drosophila; the other human genes are EYA2, EYA3, and EYA4.
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      eyes absent (eya) encodes a transcriptional cofactor that physically interacts with several other retinal determination proteins, including those encoded by ey, dac, and so. The product of eya regulates eye, gonad, and brain development as well as axon pathfinding. [Date last reviewed: 2018-09-06]
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)
      Moderate- to high-scoring ortholog of human EYA1, EYA2, EYA3, and EYA4 (1 Drosophila to 4 human). Dmel\eya shares 39-45% identity and 51-58% similarity with the human genes.
      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (17 groups)
      protein-protein
      Interacting group
      Assay
      References
      anti tag coimmunoprecipitation, anti tag western blot
      bimolecular fluorescence complementation, fluorescence microscopy
      bimolecular fluorescence complementation, fluorescence microscopy
      protein kinase assay, autoradiography
      pull down, western blot, two hybrid
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot, enzymatic study, autoradiography
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot
      bimolecular fluorescence complementation, fluorescence microscopy
      anti tag coimmunoprecipitation, western blot, anti tag western blot, pull down, two hybrid
      anti tag coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, anti tag western blot
      RNA-protein
      Interacting group
      Assay
      References
      pull down, anti tag western blot
      Alleles Reported to Model Human Disease (Disease Ontology) (6 alleles)
      Models Based on Experimental Evidence ( 6 )
      Modifiers Based on Experimental Evidence ( 0 )
      Allele
      Disease
      Interaction
      References
      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
      amorphic allele - molecular evidence
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      loss of function allele
      ethyl methanesulfonate
      References (4)