FlyBase Allele Report: Hsap\AR[Q12.UAS]

General Information

Symbol

Hsap\AR^Q12.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0215192

Feature type

allele

Associated gene

Hsap\AR

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\AR.Q12}

Also Known As

AR12Q

Key Links

Transgenic product class

wild_type

(Pandey et al., 2007)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Pandey et al., 2007)

Mutagen

in vitro construct

(Pandey et al., 2007)

Progenitor genotype

Carried in construct

P{UAS-Hsap\AR.Q12}

Cytology

Description

UAS regulatory sequences drive expression of full-length Hsap\AR in which the polyglutamine repeat length is 12.

(Pandey et al., 2007)

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

(Scaramuzzino et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Kennedy's disease

is ameliorated by Art8^KK107174

(Scaramuzzino et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior, with Scer\GAL4^Toll-6-D42

(Nedelsky et al., 2010)

visible, with Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Nedelsky et al., 2010)

eye, with Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

interommatidial bristle | increased number, with Scer\GAL4^GMR.PF

(Nedelsky et al., 2010)

ommatidium, with Scer\GAL4^GMR.PF

(Nedelsky et al., 2010)

ommatidium, with Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

salivary gland, with Scer\GAL4^fkh.PH

(Nedelsky et al., 2010)

type I bouton, with Scer\GAL4^VGlut1-OK371

(Nedelsky et al., 2010)

Detailed Description

Statement

Reference

Expression of Hsap\AR^Q12.Scer\UAS under the control of Scer\GAL4^GMR.PU results in degeneration of ommatidia on the posterior part of the compound eye.

(Scaramuzzino et al., 2015)

Whereas flies expressing Hsap\AR^Q12.Scer\UAS in the developing eye under the control of Scer\GAL4^GMR.PF show no eye phenotype when reared on normal food, flies reared on food containing dihydrotestosterone (DHT) exhibit a degenerative phenotype that is limited to the posterior margin of the eye. The severity of the phenotype is polyglutamine-length dependent, with Hsap\AR^Q12.Scer\UAS expressing flies showing only mild ommatidial and bristle phenotypes.

Expression of Hsap\AR^Q12.Scer\UAS in the larval salivary gland under the control of Scer\GAL4^fkh.PH results in a dramatic reduction in salivary gland size. Larvae expressing Hsap\AR^Q12.Scer\UAS in motorneurons under the control of Scer\GAL4^D42 exhibit defects in locomotor ability (as measured by larval crawling assay), indicating a significant functional deficit. In addition, the number of type 1B boutons at the larval neuromuscular junction is significantly decreased in a dihydrotestosterone-dependent manner when Hsap\AR^Q12.Scer\UAS is expressed using the motor neuron driver Scer\GAL4^VGlut-OK371.

(Nedelsky et al., 2010)

Photoreceptor neurons do not show any accumulation of morphological features of autophagy in flies expressing Hsap\AR^Q12.Scer\UAS under the control of Scer\GAL4^GMR.PF in the presence of dihydrotestosterone (DHT).

(Pandey et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has visible phenotype, suppressible | partially by Art8^KK107174, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

NOT suppressed by

Statement

Reference

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has visible phenotype, non-suppressible by Art2^GD10684, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by Lmpt^GE27535, Scer\GAL4^GMR.PF

(Nedelsky et al., 2010)

Suppressed by

Statement

Reference

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has eye phenotype, suppressible | partially by Art8^KK107174, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has ommatidium phenotype, suppressible | partially by Art8^KK107174, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PF has eye phenotype, suppressible by Dp(3;3)st⁺g18

(Nedelsky et al., 2010)

NOT suppressed by

Statement

Reference

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has eye phenotype, non-suppressible by Art2^GD10684, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Hsap\AR^Q12.UAS, Scer\GAL4^GMR.PU has ommatidium phenotype, non-suppressible by Art2^GD10684, Scer\GAL4^GMR.PU

(Scaramuzzino et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Art8^KK107174 partially suppresses the ommatidial degeneration seen in flies expressing Hsap\AR^Q12.Scer\UAS under the control of Scer\GAL4^GMR.PU.

(Scaramuzzino et al., 2015)

The presence of Lmpt^GE27535 enhances the Hsap\AR^Q12.Scer\UAS-Scer\GAL4^GMR.PF degenerative eye phenotype.

A Dp(3;3)st⁺g18 background suppresses the degenerative eye phenotype found upon expression of Hsap\AR^Q12.Scer\UAS under the control of Scer\GAL4^GMR.PF.

(Nedelsky et al., 2010)

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\AR^Q12.Scer\UAS

Hsap\AR^Q12.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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