FlyBase Allele Report: Hsap\TBP[109Q.UAS.Tag:HA]

General Information

Symbol

Hsap\TBP^{109Q.UAS.Tag:HA}

Species

H. sapiens

Name

FlyBase ID

FBal0302755

Feature type

allele

Associated gene

Hsap\TBP

Associated Insertion(s)

Carried in Construct

P{UAS-Hsap\TBP-HA.109Q}

Key Links

Transgenic product class

trinucleotide_repeat_expansion

(Hsu et al., 2014)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

trinucleotide_repeat_expansion

(Hsu et al., 2014)

Mutagen

in vitro construct

(Hsu et al., 2014)

Progenitor genotype

Carried in construct

P{UAS-Hsap\TBP-HA.109Q}

Cytology

Description

UAS regulatory sequences drive expression of full length Hsap\TBP with 109 glutamine residues, tagged at the C-terminal end with Tag:HA.

(Hsu et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\TBP

Tagged with

Tag:HA

epitope tag

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 autosomal dominant cerebellar ataxia

CEA

(Hsu et al., 2014)

model of spinocerebellar ataxia 17

CEA

(Yeh et al., 2018)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant cerebellar ataxia

is exacerbated by Tbp^sI10

(Hsu et al., 2014)

is exacerbated by Tbp^UAS.cHa

(Hsu et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Hsu et al., 2014)

TBP:p.Gln58[109]

(FlyBase curators, 2019-)

Variants Synonym(s)

TBP:p.Gln58[109Gln]

TBP, (CAG)n REPEAT EXPANSION

Associated human disease model(s)

spinocerebellar ataxia 17

External database links

ClinVar: TBP_562072

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | adult stage | progressive, with Scer\GAL4^elav.PU

(Hsu et al., 2014)

short lived, with Scer\GAL4^elav.PU

(Hsu et al., 2014)

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

(Hsu et al., 2014)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

eye disc, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

head, with Scer\GAL4^elav.PU

(Hsu et al., 2014)

interommatidial bristle, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

ommatidium, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

photoreceptor, with Scer\GAL4^GMR.PU

(Hsu et al., 2014)

Detailed Description

Statement

Reference

Expression of Hsap\TBP^{109Q.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU does not cause morphological defects in the eyes of three week old adult flies when compared with controls, but loss of pigmentation is seen at 5 weeks and becomes more evident with age. Bristle loss and disorganization of ommatidial architecture are seen at 7 weeks. Insoluble inclusions are detected in the eye discs of the flies.

Flies expressing Hsap\TBP^{109Q.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^elav.PU exhibit reduced motor function at 40 days in comparison with controls. Lifespan is significantly reduced compared to controls. Soluble and insoluble protein aggregates are detected in the heads of flies two days after eclosion. By one week the soluble fraction has disappeared, and by week three aggregates are clearly observed.

The number of rhabdomeres in the retina of 1-week old flies expressing Hsap\TBP^{109Q.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU is reduced slightly compared to controls. A few scattered inclusions are seen.

(Hsu et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\TBP^{109Q.UAS.Tag:HA}, Scer\GAL4^GMR.PU has visible | progressive phenotype, enhanceable by Tbp^sI10

(Hsu et al., 2014)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\TBP^{109Q.UAS.Tag:HA}, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Tbp^sI10

(Hsu et al., 2014)

Hsap\TBP^{109Q.UAS.Tag:HA}, Scer\GAL4^GMR.PU has photoreceptor phenotype, enhanceable by Tbp^sI10

(Hsu et al., 2014)

Hsap\TBP^{109Q.UAS.Tag:HA}, Scer\GAL4^GMR.PU has photoreceptor phenotype, enhanceable by Tbp^UAS.cHa, Scer\GAL4^GMR.PU

(Hsu et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Tbp^sI10 enhances the eye phenotype seen in 7-week old flies when Hsap\TBP^{109Q.Scer\UAS.T:Ivir\HA1} is expressed under the control of Scer\GAL4^GMR.PU. The external ommatidial structures are uneven and large patches of depigmentation appear in the eyes. The number of photoreceptors is significantly reduced and rhabdomere fusion is seen.

Expression of Tbp^Scer\UAS.cHa enhances the photoreceptor loss seen in 7-week old flies when Hsap\TBP^{109Q.Scer\UAS.T:Ivir\HA1} is expressed under the control of Scer\GAL4^GMR.PU. Rhabdomere fusion is seen, and additional and large inclusions are observed.

(Hsu et al., 2014)

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\TBP^{109Q.Scer\UAS.T:Ivir\HA1}

Hsap\TBP^{109Q.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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