FB2025_01 , released February 20, 2025
Allele: Hsap\ARQ112.UAS.Tag:HA
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General Information
Symbol
Hsap\ARQ112.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0241246
Feature type
allele
Associated gene
Hsap\AR
Associated Insertion(s)
Carried in Construct
P{UAS-Hsap\AR.Q112}
Also Known As
UAS-ARtrQ112
Key Links
Transgenic product class
trinucleotide_repeat_expansion
(Chan et al., 2002)
Mutagen
Nature of the Allele
Transgenic product class
trinucleotide_repeat_expansion
(Chan et al., 2002)
Mutagen
in vitro construct
(Chan et al., 2002)
Progenitor genotype
Carried in construct
P{UAS-Hsap\AR.Q112}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\AR coding sequences containing an expanded (Q112) poly(Q) repeat and fused with a Tag:HA tag at the N-terminus.

(Chan et al., 2002)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\AR
Tagged with
Tag:HA
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
      (Todd et al., 2015, Chan et al., 2002)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Kennedy's disease
      is exacerbated by Prosβ61.UAS
      (Chan et al., 2002)
      is exacerbated by Uba2C175S.UAS
      (Chan et al., 2002)
      model of  neurodegenerative disease
      is exacerbated by Cul1GD9650
      (Chen et al., 2019)
      is exacerbated by FipoQNIG.2010R
      (Chen et al., 2019)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Chan et al., 2002)
      AR:p.Gln58[112]
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      AR:p.Gln58[112Gln]
      AR, (CAG)n REPEAT EXPANSION
      Associated human disease model(s)
      External database links
      Comments concerning this variant

      The largest AR repeat expansion reported in a person with SBMA is 68 (Gene Reviews, Spinal and Bulbar Muscular Atrophy); this allele is outside that range. See ClinVar:417977.

      (FlyBase curators, 2019-)
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\ARQ112.UAS.Tag:HA under the control of Scer\GAL4GMR.PU induces loss of eye pigmentation.

      (Chen et al., 2019)

      Expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 (line P{UAS-Hsap\AR.Q112}M) under the control of Scer\GAL4GMR.PF induces mild degeneration of the external eye and more severe degeneration of the internal eye structure. Expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 (line P{UAS-Hsap\AR.Q112}S) under the control of Scer\GAL4GMR.PF results in a more severe degeneration of the eye.

      Expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4elav-C155 confers embryonic lethality. Moderate expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4elav-C155 (using the line P{UAS-Hsap\AR.Q112}M) yields adults that display an early-death phenotype, dying within 2-5 days after eclosion with poor motility and an irregular tremor.

      Moderate expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 in motor neurons through the Scer\GAL4D42 driver (using the line P{UAS-Hsap\AR.Q112}M) confers a less severe phenotype when compared with pan-neural expression with Scer\GAL4elav-C155, with flies starting to die 2 days after eclosion from the pupal case. All flies die with in 18 days. In addition to the early-death phenotype, these flies become less active and exhibit an irregular tremor starting at 10 days.

      (Chan et al., 2002)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      NOT suppressed by
      Statement
      Reference

      Hsap\ARQ112.UAS.Tag:HA, Scer\GAL4GMR.PF, Uba2C175S.UAS has increased cell death | temperature conditional phenotype, non-suppressible by Hsap\HSPA1LUAS.cWa, Scer\GAL4GMR.PF

      (Chan et al., 2002)
      Enhancer of
      Statement
      Reference

      Hsap\ARQ112.UAS.Tag:HA, Scer\GAL4GMR.PF is an enhancer of increased cell death | temperature conditional phenotype of Scer\GAL4GMR.PF, Uba2C175S.UAS

      (Chan et al., 2002)
      Other
      Phenotype Manifest In
      Enhanced by
      Suppressed by
      NOT suppressed by
      Enhancer of
      Statement
      Reference

      Hsap\ARQ112.UAS.Tag:HA, Scer\GAL4GMR.PF is an enhancer of eye | temperature conditional phenotype of Scer\GAL4GMR.PF, Uba2C175S.UAS

      (Chan et al., 2002)

      Hsap\ARQ112.UAS.Tag:HA, Scer\GAL4GMR.PF is an enhancer of ommatidium | temperature conditional phenotype of Scer\GAL4GMR.PF, Uba2C175S.UAS

      (Chan et al., 2002)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The eye pigmentation loss induced by the expression of Hsap\ARQ112.UAS.Tag:HA under the control of Scer\GAL4GMR.PU are aggravated by the co-expression of Cul1GD9650 to the point of even leading to necrotic scars.

      (Chen et al., 2019)

      Co-expression of Hsap\HSPA1LScer\UAS.cWa with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 in the eye (under the control of Scer\GAL4GMR.PF suppresses the external and internal eye phenotypes associated with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1.

      Co-expression of Hsc70-4K71S.Scer\UAS with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 in the eye (under the control of Scer\GAL4GMR.PF enhances the eye phenotype, such that the flies show a severely degenerated eye, whereas expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 alone mildly affects the eye.

      Co-expression of Uba2C175S.Scer\UAS with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 (both under the control of Scer\GAL4GMR.PF) results in a constant enhancement of the eye degeneration, as illustrated by severe loss of pigmentation.

      Co-expression of Uba2C175S.Scer\UAS and Hsap\HSPA1LScer\UAS.cWa with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 (all under the control of Scer\GAL4GMR.PF) fails to suppress the enhancement of the eye degeneration phenotype found in Uba2C175S.Scer\UAS ; Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 flies.

      Co-expression of Pros261.Scer\UAS with Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 (both under the control of Scer\GAL4GMR.PF) enhances the eye degeneration found with expression of Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 alone. Analysis of protein extracts reveals that the enhancement of degneration is associated with a change in the solubility properties of the Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 protein.

      Co-expression of Pros261.Scer\UAS and Hsap\HSPA1LScer\UAS.cWa, together with the pathogenic Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 lines (all under the control of the Scer\GAL4GMR.PF driver) suppress the eye phenotype.

      Co-expression of Pros261.Scer\UAS and Hsc70-4K71S.Scer\UAS, together with the pathogenic Hsap\ARQ112.Scer\UAS.T:Ivir\HA1 lines (all under the control of the Scer\GAL4GMR.PF driver) enhances the eye phenotype.

      (Chan et al., 2002)
      Complementation and Rescue Data
      Comments
      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\ARQ112.Scer\UAS.T:Ivir\HA1
      Hsap\ARQ112.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (6)