FlyBase Allele Report: Zzzz\UGGAA[S.UAS]

General Information

Symbol

Zzzz\UGGAA^S.UAS

Species

a. artificial

Name

FlyBase ID

FBal0327166

Feature type

allele

Associated gene

Zzzz\UGGAA

Associated Insertion(s)

Carried in Construct

P{UAS-UGGAA.S}

Transgenic product class

short_tandem_repeat_expansion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(Ishiguro et al., 2017)

Mutagen

in vitro construct

(Ishiguro et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-UGGAA.S}

Cytology

Description

UAS regulatory sequences drive strong (line 1) expression of around 80-100 (0.4-0.5 kb) Zzzz\UGGAA (a repeat tract associated with human SCA31) repeats, followed by a bridging sequence (complex of UGGGAA, UGGAA, UAGAA) and then a (UAGAA)n, (UAAAA UAGAA)n stretch.

(Ishiguro et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Zzzz\UGGAA

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 spinocerebellar ataxia 31

CEA

(Ishiguro et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of spinocerebellar ataxia 31

is ameliorated by Hsap\TARDBP^ΔN.UAS

(Ishiguro et al., 2017)

is NOT ameliorated by Hsap\TARDBP^RRM.UAS

(Ishiguro et al., 2017)

is ameliorated by Hsap\FUS^UAS.cIa

(Ishiguro et al., 2017)

is NOT ameliorated by caz^KK107486

(Ishiguro et al., 2017)

is ameliorated by Hsap\TARDBP^UAS.cIb

(Ishiguro et al., 2017)

is ameliorated by Hsap\TARDBP^ΔC.UAS

(Ishiguro et al., 2017)

is ameliorated by Hsap\HNRNPA2B1^UAS.cKa

(Ishiguro et al., 2017)

is NOT ameliorated by Hrb87F^KK108162

(Ishiguro et al., 2017)

is NOT ameliorated by Hrb98DE^GD14939

(Ishiguro et al., 2017)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ishiguro et al., 2017)

This construct encodes only the RNA repeat motif.

BEAN1:n.intron[80_100UGGAA]

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

spinocerebellar ataxia 31

External database links

ClinVar: BEAN1_733

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

eye | adult stage, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

ommatidium | adult stage, with Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Detailed Description

Statement

Reference

The expression of Zzzz\UGGAA^S.Scer\UAS under the control of Scer\GAL4^GMR.PS leads to semi-lethality during the pupal stage and to severe eye defects in the surviving adults, including reduced eye size, loss of pigmentation, defective morphology and ommatidial abnormalities, as compared to controls; the eye defects are Zzzz\UGGAA^S.Scer\UAS dose-dependent, as they are more severe upon expression from two copies than from one copy. Expression under the control of Scer\GAL4^elav-C155 leads to lethality during the pupal stage. Adulthood expression by the combined control of Scer\GAL4^{elav.Switch.PO} and RU486 treatment leads to significant decreases in lifespan and in locomotor capacity in negative geotaxis assays, as compared to controls.

(Ishiguro et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^S.UAS has lethal phenotype, suppressible by Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, suppressible | partially by TBPH^GD6943/Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^S.UAS has lethal phenotype, suppressible by Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, suppressible | partially by TBPH^GD6943/Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by caz^KK107486, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by caz^KK107486, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has visible | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal size | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has abnormal eye color phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Other

Statement

Reference

Scer\GAL4^GMR.PS, TBPH^GD6943, Zzzz\UGGAA^S.UAS has lethal phenotype

(Ishiguro et al., 2017)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, suppressible | partially by Hsap\TARDBP^ΔN.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\FUS^UAS.cIa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, suppressible | partially by TBPH^GD6943/Hsap\HNRNPA2B1^UAS.cKa, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

NOT suppressed by

Statement

Reference

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by caz^KK107486/Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by Hsap\TARDBP^RRM.UAS, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by caz^KK107486, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by Hrb87F^KK108162, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Hsap\TARDBP^UAS.cIb, Scer\GAL4^GMR.PS, Zzzz\UGGAA^S.UAS has eye | adult stage phenotype, non-suppressible by Hrb98DE^GD14939, Scer\GAL4^GMR.PS

(Ishiguro et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The severity of the eye defects resulting from the expression of Zzzz\UGGAA^S.Scer\UAS under the control of Scer\GAL4^GMR.PS (i.e. reduced size, loss of pigmentation, defective morphology and ommatidial abnormalities) is decreased by the co-expression of Hsap\TARDBP^Scer\UAS.cIb, Hsap\TARDBP^ΔN.Scer\UAS or Hsap\TARDBP^ΔC.Scer\UAS, but is apparently unaffected by the co-expression of Hsap\TARDBP^RRM.Scer\UAS, caz^KK107486, Hrb87F^KK108162 or Hrb98DE^GD14939; the partial suppression of the eye phenotypes by the co-expression of Hsap\TARDBP^Scer\UAS.cIb alone is not furthered by the additional co-expression of caz^KK107486, Hrb87F^KK108162 or Hrb98DE^GD14939.

The co-expression of Zzzz\UGGAA^S.Scer\UAS and TBPH^GD6943 under the control of Scer\GAL4^GMR.PS leads to lethality, which is rescued by the additional co-expression of either Hsap\FUS^Scer\UAS.cIa or Hsap\HNRNPA2B1^Scer\UAS.cKa; the rescued adults exhibit significantly less severe eye phenotypes, as compared to adults only expressing Zzzz\UGGAA^S.Scer\UAS under the control of Scer\GAL4^GMR.PS.

(Ishiguro et al., 2017)

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

Zzzz\UGGAA^S.Scer\UAS

Zzzz\UGGAA^S.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

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