FlyBase Allele Report: Hsap\AR[Q52AF-1.UAS]

General Information

Symbol

Hsap\AR^Q52AF-1.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0147859

Feature type

allele

Associated gene

Hsap\AR

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\AR.Q52AF-1}

Key Links

Transgenic product class

inframe_deletion

(Takeyama et al., 2002)

trinucleotide_repeat_expansion

(Takeyama et al., 2002)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Takeyama et al., 2002)

trinucleotide_repeat_expansion

(Takeyama et al., 2002)

Mutagen

in vitro construct

(Takeyama et al., 2002)

Progenitor genotype

Carried in construct

P{UAS-Hsap\AR.Q52AF-1}

Cytology

Description

UAS regulatory sequences drive expression of a truncated human androgen receptor (Hsap\AR) lacking the C-terminal 229 codons (which includes the ligand binding domain), in which the polyQ repeats are expanded to from 20(wild-type) to 52.

(Takeyama et al., 2002)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\AR

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of Kennedy's disease

CEA

(Murata et al., 2008)

model of neurodegenerative disease

CEA

(Takeyama et al., 2002)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Kennedy's disease

is exacerbated by hoip^GS7164

(Murata et al., 2008)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Takeyama et al., 2002)

AR:p.Gln58[52]

(FlyBase curators, 2019-)

Variants Synonym(s)

AR:p.Gln58[52Gln]

AR, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

spinal and bulbar muscular atrophy, X-linked 1

External database links

ClinVar: AR_417977

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible, with Scer\GAL4^GMR.PY

(Takeyama et al., 2002)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Murata et al., 2008)

eye, with Scer\GAL4^GMR.PY

(Takeyama et al., 2002)

ommatidium, with Scer\GAL4^GMR.PY

(Takeyama et al., 2002)

Detailed Description

Statement

Reference

Expression of Hsap\AR^{Q52AF-1.Scer\UAS} under the control of Scer\GAL4^GMR.PF leads to neurodegeneration and the development of a rough eye phenotype.

(Murata et al., 2008)

Animals expressing Hsap\AR^{Q52AF-1.Scer\UAS} under the control of Scer\GAL4^GMR.PY have severely disrupted eye morphology.

(Takeyama et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by hoip^GS7164, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has rhabdomere phenotype, enhanceable by hoip^GS7164, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by nop5^UAS.cMa, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has rhabdomere phenotype, enhanceable by nop5^UAS.cMa, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Nop56^UAS.cMa, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Hsap\AR^Q52AF-1.UAS, Scer\GAL4^GMR.PF has rhabdomere phenotype, enhanceable by Nop56^UAS.cMa, Scer\GAL4^GMR.PF

(Murata et al., 2008)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The presence of hoip^GS7164 significantly enhances the neurodegeneration and rough eye phenotype seen upon expression of Hsap\AR^{Q52AF-1.Scer\UAS} under the control of Scer\GAL4^GMR.PF. The numbers of rhabdomeres decreases significantly compared to single mutant controls.

The presence of nop5^Scer\UAS.cMa significantly enhances the neurodegeneration and rough eye phenotype seen upon expression of Hsap\AR^{Q52AF-1.Scer\UAS} under the control of Scer\GAL4^GMR.PF. The numbers of rhabdomeres decreases significantly compared to single mutant controls.

The presence of Nop56^Scer\UAS.cMa significantly enhances the neurodegeneration and rough eye phenotype seen upon expression of Hsap\AR^{Q52AF-1.Scer\UAS} under the control of Scer\GAL4^GMR.PF. The numbers of rhabdomeres decreases significantly compared to single mutant controls.

(Murata et al., 2008)

Complementation and Rescue Data

Partially rescued by

Hsap\AR^Q52AF-1.UAS is partially rescued by Hsap\AR^AF-2.UAS/Scer\GAL4^GMR.PY

(Takeyama et al., 2002)

Comments

The rough eye phenotype of Hsap\AR^{Q52AF-1.Scer\UAS}; Scer\GAL4^GMR.PY animals is partially suppressed by the co-expression of (Hsap\AR^{AF-2.Scer\UAS}). This suppression is prevented by treatment of the animals with the androgen receptor ligand dihydroxytestosterone (DHT).

(Takeyama et al., 2002)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\AR^{Q52AF-1.Scer\UAS}

Hsap\AR^Q52AF-1.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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