Human Disease Model Report: branchiootorenal syndrome 1

General Information

Name

branchiootorenal syndrome 1

FlyBase ID

FBhh0000464

Disease Ontology Term

branchiootorenal syndrome 1

Parent Disease

OMIM

BRANCHIOOTORENAL SYNDROME 1; BOR1

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 MIM:113650; 2017.01.06]

(OMIM, 2013-)

Genetics

Branchiootorenal syndrome 1 (BOR1) is caused by heterozygous mutation in the EYA1 gene (autosomal dominant). [from MIM:113650; 2017.01.06]

(OMIM, 2013-)

Cellular phenotype and pathology

Molecular information

External links

Gene2Function (human gene): EYA1
Gene Cards: EYA1
GeneReviews, NCBI Bookshelf: Branchiootorenal Spectrum Disorders
MedlinePlus (condition): branchiootorenal/branchiootic syndrome
MedlinePlus (gene): EYA1
MARRVEL (human gene): EYA1
NCBI MedGen: Melnick-Fraser syndrome (BOR1)
NCBI (Entrez) gene: EYA1; EYA transcriptional coactivator and phosphatase 1
National Organization for Rare Disorders: Branchio Oto Renal Syndrome

Disease synonyms

BOR1

branchiootorenal dysplasia

branchiootorenal syndrome 1, with or without cataracts

Melnick-Fraser syndrome

Related Diseases

Related human health report(s)

branchiootorenal spectrum disorders, EYA1-related

Ortholog Information

Human gene(s) in FlyBase

Human gene (HGNC)

Symbol / Name

EYA1; EYA transcriptional coactivator and phosphatase 1

D. melanogaster ortholog (based on DIOPT)

Dmel\eya

(DIOPT, 2013-)

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)

Dmel\eya

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]

Molecular function (GO)

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

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (19 groups)

eya

protein-protein

Interacting group

Assay

References

eya

anti tag coimmunoprecipitation, anti tag western blot

(Mutsuddi et al., 2005)

eya - abd-A

bimolecular fluorescence complementation, fluorescence microscopy

(Bischof et al., 2018, Baëza et al., 2015)

eya - Abd-B

bimolecular fluorescence complementation, fluorescence microscopy

(Baëza et al., 2015)

eya - Abl

protein kinase assay, autoradiography

(Xiong et al., 2009)

eya - cg

pull down, western blot, two hybrid

(Davis and Rebay, 2017)

eya - dac

anti tag coimmunoprecipitation, anti tag western blot

(Jin and Mardon, 2016)

eya - ey

anti tag coimmunoprecipitation, anti tag western blot

(Jin and Mardon, 2016)

eya - gro

pull down, autoradiography

(Goldstein et al., 2005)

eya - hop

anti tag coimmunoprecipitation, anti tag western blot

(Hoi et al., 2016)

eya - IKKβ

anti tag coimmunoprecipitation, anti tag western blot

(Liu et al., 2012)

eya - nmo

enzymatic study, autoradiography, anti tag coimmunoprecipitation, anti tag western blot

(Morillo et al., 2012)

eya - Optix

anti tag coimmunoprecipitation, anti tag western blot

(Anderson et al., 2012)

eya - Rel

anti tag coimmunoprecipitation, anti tag western blot

(Liu et al., 2012)

eya - Scr

bimolecular fluorescence complementation, fluorescence microscopy

(Baëza et al., 2015)

eya - so

two hybrid, pull down, autoradiography, anti tag coimmunoprecipitation, anti tag western blot, western blot

(Davis and Rebay, 2017, Jin and Mardon, 2016, Anderson et al., 2012, Kenyon et al., 2005, Kenyon et al., 2005, Mutsuddi et al., 2005)

eya - Socs36E

anti tag coimmunoprecipitation, anti tag western blot

(Hoi et al., 2016)

eya - Socs44A

anti tag coimmunoprecipitation, anti tag western blot

(Hoi et al., 2016)

eya - tim

anti tag coimmunoprecipitation, anti tag western blot

(Abrieux et al., 2020)

RNA-protein

Interacting group

Assay

References

eya - Tis11

pull down, anti tag western blot

(Yeh et al., 2012)

Alleles Reported to Model Human Disease (Disease Ontology) (7 alleles)

eya

Models Based on Experimental Evidence ( 6 )

Allele

Disease

Evidence

References

eya^{E528K.UAS.Tag:FLAG}

model of eye disease

CEA

(Mutsuddi et al., 2005)

eya^{G594S.UAS.Tag:FLAG}

model of branchiootorenal syndrome

CEA

(Mutsuddi et al., 2005)

model of eye disease

CEA

(Mutsuddi et al., 2005)

eya^{G723E.UAS.Tag:FLAG}

model of eye disease

CEA

(Mutsuddi et al., 2005)

eya^{L673R.UAS.Tag:FLAG}

model of branchiootorenal syndrome

CEA

(Mutsuddi et al., 2005)

eya^{R715G.UAS.Tag:FLAG}

model of eye disease

CEA

(Mutsuddi et al., 2005)

eya^{S655P.UAS.Tag:FLAG}

model of branchiootorenal syndrome

CEA

(Mutsuddi et al., 2005)

Modifiers Based on Experimental Evidence ( 1 )

Allele

Disease

Interaction

References

eya²

ameliorates Parkinson's disease 6

modeled by Pink1^B9

(Fedele et al., 2022)

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

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

eya^{S655P.UAS.Tag:FLAG}

P{UAS-eya.S655P}

eya^{R715G.UAS.Tag:FLAG}

P{UAS-eya.R715G}

eya^{L673R.UAS.Tag:FLAG}

P{UAS-eya.L673R}

eya^{G723E.UAS.Tag:FLAG}

P{UAS-eya.G723E}

eya^{G594S.UAS.Tag:FLAG}

P{UAS-eya.G594S}

eya^{E528K.UAS.Tag:FLAG}

P{UAS-eya.E528K}

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

eya^RNAi.UAS.cUa

P{UAS-eya.RNAi.U}

eya^RNAi.UAS.cHa

P{UAS-so.RNAi,eya.RNAi}

eya^GD1441

P{GD1441}

w¹¹¹⁸ P{GD1441}v43911

y¹ v¹; P{TRiP.JF03160}attP2

eya^GLV21090

P{TRiP.GLV21090}

y¹ sc^* v¹ sev²¹; P{TRiP.GLV21090}attP2

eya^HMS04515

P{TRiP.HMS04515}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS04515}attP40

eya^HMS05716

P{TRiP.HMS05716}

y¹ sc^* v¹ sev²¹; P{TRiP.HMS05716}attP40

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

eya^E18B

amorphic allele - molecular evidence

ethyl methanesulfonate

eya^2m23a

loss of function allele

CRISPR/Cas9

eya^cli-IID

loss of function allele

ethyl methanesulfonate

eya^cli-IID cn¹ bw¹ speck¹/CyO

eya^cli-IIE

loss of function allele

ethyl methanesulfonate

eya²

spontaneous

eya²

References (5)

Report Sections

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