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General Information
Symbol
Hsap\ARQ112.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0241246
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
UAS-ARtrQ112
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

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.

Allele components
Product class / Tool use(s)
Encoded product / tool
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
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.

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.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Phenotype Manifest In
Enhanced by
Suppressed by
NOT suppressed by
Enhancer of
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.

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.

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)