FlyBase Allele Report: Hsap\ATXN3[UAS.Tag:polyHis]

General Information

Symbol

Hsap\ATXN3^{UAS.Tag:polyHis}

Species

H. sapiens

Name

FlyBase ID

FBal0326968

Feature type

allele

Associated gene

Hsap\ATXN3

Associated Insertion(s)

Carried in Construct

P{UAS-hATXN3-His6}

Key Links

Transgenic product class

wild_type

(Tsou et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Tsou et al., 2015)

Mutagen

in vitro construct

(Tsou et al., 2015, Tsou et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-hATXN3-His6}

Cytology

Description

UASt regulatory sequences drive expression of wild-type Hsap\ATXN3 with the normal polyQ tract of 22 repeats. The protein is tagged at the C-terminal end with Tag:polyHis.

(Tsou et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Tagged with

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 neurodegenerative disease

CEA

(Burr et al., 2014)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates spinocerebellar ataxia 6

modeled by Hsap\CACNA1A^{UAS.αACT.Q70}

(Tsou et al., 2015)

ameliorates neurodegenerative disease

modeled by Hsap\ATXN3^{fl.Q84.UAS.Tag:MYC}

(Burr et al., 2014)

modeled by Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Tsou et al., 2013)

ameliorates Machado-Joseph disease

modeled by Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Tsou et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

visible | progressive, with Scer\GAL4^GMR.long

(Burr et al., 2014)

Phenotype Manifest In

eye | progressive, with Scer\GAL4^GMR.long

(Burr et al., 2014)

ommatidium | progressive, with Scer\GAL4^GMR.long

(Burr et al., 2014)

Detailed Description

Statement

Reference

Expression of Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6} in the drosophila eye, under the control of Scer\GAL4^GMR.long results in a mild eye degeneration phenotype (with some depigmentation) that does not impact on the overall external fly eye structure. The internal structures appear to degenerate over time, highlighted by ommatidial loss and contraction of the retinal depth. However, this marked loss of internal structure was not accompanied by large degeneration of the external eye.

(Burr et al., 2014)

Expression of Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6} in the developing eye, under the control of Scer\GAL4^GMR.PF does not affect eye development.

(Tsou et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Hsap\ATXN3^{UAS.Tag:polyHis}, Scer\GAL4^GMR.PU is an enhancer of abnormal neuroanatomy | adult stage | progressive phenotype of Hsap\CACNA1A^{UAS.αACT.Q70}, Scer\GAL4^GMR.PU

(Tsou et al., 2015)

Suppressor of

Statement

Reference

Hsap\ATXN3^{UAS.Tag:polyHis}, Scer\GAL4^GMR.long is a suppressor of lethal phenotype of Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Prosβ2^1.UAS, Prosβ6^1.B.UAS, Scer\GAL4^GMR.long

(Tsou et al., 2015)

Other

Statement

Reference

Phenotype Manifest In

Enhancer of

Statement

Reference

Hsap\ATXN3^{UAS.Tag:polyHis}, Scer\GAL4^GMR.PU is an enhancer of retina | adult stage | progressive phenotype of Hsap\CACNA1A^{UAS.αACT.Q70}, Scer\GAL4^GMR.PU

(Tsou et al., 2015)

Other

Statement

Reference

CG5001^KK108978, Hsap\ATXN3^{UAS.Tag:polyHis}, Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.long has eye phenotype

(Tsou et al., 2015)

DnaJ-1^HMS00688, Hsap\ATXN3^{UAS.Tag:polyHis}, Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Scer\GAL4^GMR.long has eye phenotype

(Tsou et al., 2015)

Hsap\ATXN3^{UAS.Tag:polyHis}, Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Hsf^JF02415, Scer\GAL4^GMR.long has eye phenotype

(Tsou et al., 2015)

Hsap\ATXN3^{UAS.Tag:polyHis}, Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}, Rad23^KK107826, Scer\GAL4^GMR.long has eye phenotype

(Tsou et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6} enhances the progressive retinal degeneration seen in fly eyes with Hsap\CACNA1A^{Scer\UAS.αACT.Q70} driven by Scer\GAL4^GMR.PU.

(Tsou et al., 2015)

Co-expression of Rad23^KK107826, DnaJ-1^HMS00688, CG5001^KK108978 or Hsf^JF02415 suppresses the protective role of expression of Hsap\ATXN3^{Scer\UAS.WT.T:Zzzz\His6} in suppressing eye degeneration in flies with Hsap\ATXN3^{tr.Q78.Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^GMR.long.

Co-expression of eff^HM05268, CG9934^JF02691, park^HMS01651, CG7220^KK109208, STUB1^HMS00986, sip3^GD3145, Rpn8^KK101319, Rpn11^GD8888, Atg7^GD11671, Atg8a^HMS01328, Atg12^JF02704, ref(2)P^KK105338, mrj^GD15063, CG7130^GD2776, Hsc70-4^JF03136, Hsc70-3^HMS00397, CG10973^KK104957, Hsp27^HMS00807, Hsp60A^KK107896, Hsp83^HMS00796, simultaneous co-expression of Prosβ6^1.B.Scer\UAS and Prosβ2^1.Scer\UAS, or Prosβ6¹ does not suppress the protective role of expression of Hsap\ATXN3^{Scer\UAS.WT.T:Zzzz\His6} in suppression of eye degeneration in Scer\GAL4^GMR.long>Hsap\ATXN3^{tr.Q78.Scer\UAS.T:Ivir\HA1} flies.

Co-expression of Hsap\ATXN3^{Scer\UAS.WT.T:Zzzz\His6} does not suppress the protective role of expression of DnaJ-1^Scer\UAS.cKa in suppressing eye degeneration in flies with Hsap\ATXN3^{tr.Q78.Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^GMR.long.

(Tsou et al., 2015)

Complementation and Rescue Data

Rescues

Hsap\ATXN3^{UAS.Tag:polyHis}/Scer\GAL4^GMR.long rescues Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Tsou et al., 2015)

Hsap\ATXN3^{UAS.Tag:polyHis}/Scer\GAL4^GMR.PF rescues Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Tsou et al., 2013)

Partially rescues

Hsap\ATXN3^{UAS.Tag:polyHis}/Scer\GAL4^GMR.long partially rescues Hsap\ATXN3^{fl.Q84.UAS.Tag:MYC}

(Burr et al., 2014)

Comments

Co-expression of Hsap\ATXN3^{Scer\UAS.WT.T:Zzzz\His6} significantly suppresses the eye degeneration seen in flies with expression of Hsap\ATXN3^{tr.Q78.Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^GMR.long.

(Tsou et al., 2015)

Expression of Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6} suppresses the retinal degeneration seen upon expression of Hsap\ATXN3^{fl.Q84.Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^GMR.long. The ommatidia are present, and there are fewer aggregates/inclusions in adults aged 14 days. Still, eyes co-expressing these two transgenes are not completely normal; there is some ommatidial loss at 14 days compared with 1-day-old adults of the same genotype.

(Burr et al., 2014)

Co-expression of Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6} dramatically suppresses the eye degeneration seen upon expression of Hsap\ATXN3^{tr.Q78.Scer\UAS.T:Ivir\HA1} (with both transgenes under the control of Scer\GAL4^GMR.PF).

(Tsou et al., 2013)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Hsap\ATXN3^{Scer\UAS.T:Zzzz\His6}

Hsap\ATXN3^{Scer\UAS.WT.T:Zzzz\His6}

Hsap\ATXN3^{UAS.Tag:polyHis}

Name Synonyms

Secondary FlyBase IDs

FBal0291745
FBal0320762

References (6)

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