FlyBase Allele Report: Dmel\mtDNA-helicase[K388A.UAS]

General Information

Symbol

Dmel\mtDNA-helicase^K388A.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0279446

Feature type

allele

Associated gene

Dmel\mtDNA-helicase

Associated Insertion(s)

Carried in Construct

P{UAS-mtDNA-helicase.K388A}

Key Links

Transgenic product class

missense_variant

(Sanchez-Martinez et al., 2012)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Sanchez-Martinez et al., 2012)

Mutagen

in vitro construct

(Sanchez-Martinez et al., 2012)

Progenitor genotype

Carried in construct

P{UAS-mtDNA-helicase.K388A}

Cytology

Description

UAS regulatory sequences drive expression of a mutated form of mtDNA-helicase which contains the amino acid replacement K388A.

(Sanchez-Martinez et al., 2012)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

mtDNA-helicase

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 progressive external ophthalmoplegia with mitochondrial DNA deletions 3

CEC

(Rodrigues et al., 2018)

CEA

(Sanchez-Martinez et al., 2012)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3

is NOT ameliorated by Cint\AOX^UAS.cFa

(Rodrigues et al., 2018)

is NOT ameliorated by Cint\AOX^wt.UAS

(Rodrigues et al., 2018)

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

FlyBase curator comment: "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3" is associated with human ortholog TWNK.

(Rodrigues et al., 2018)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

wing disc | third instar larval stage, with Scer\GAL4^da.G32

(Sanchez-Martinez et al., 2012)

wing disc posterior compartment | third instar larval stage, with Scer\GAL4^en-e16E

(Sanchez-Martinez et al., 2012)

Detailed Description

Statement

Reference

Expressing mtDNA-helicase^K388A.UAS under the control of Scer\GAL4^da.PU leads to near full larval lethality, with very few larvae being able to enter the pre-pupa stage and dying immediately; most L3 larvae are apparently fully developed and mobile at day 5 after egg laying, but remain in this state for an additional 9 days before dying.

(Rodrigues et al., 2018)

Expression of mtDNA-helicase^{K388A.Scer\UAS} under the control of Scer\GAL4^da.G32 results in a significant decrease in mtDNA copy number in third instar larvae.

Wing discs of third instar larvae expressing mtDNA-helicase^{K388A.Scer\UAS} under the control of Scer\GAL4^da.G32 show an increase in apoptosis and a decrease in cell proliferation compare to wild type.

Wing discs of third instar larvae expressing mtDNA-helicase^{K388A.Scer\UAS} under the control of Scer\GAL4^en-e16E show an increase in apoptotic clusters in the posterior compartment compared to the anterior compartment.

(Sanchez-Martinez et al., 2012)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Scer\GAL4^da.PU, mtDNA-helicase^K388A.UAS has lethal - all die before end of prepupal stage phenotype, non-enhanceable by Cint\AOX^mut.UAS, Scer\GAL4^da.PU

(Rodrigues et al., 2018)

Scer\GAL4^da.PU, mtDNA-helicase^K388A.UAS has lethal - all die before end of prepupal stage phenotype, non-enhanceable by Cint\AOX^wt.UAS, Scer\GAL4^da.PU