FlyBase Allele Report: Hsap\YARS1[153-156delVKQV.UAS]

General Information

Symbol

Hsap\YARS1^{153-156delVKQV.UAS}

Species

H. sapiens

Name

FlyBase ID

FBal0297462

Feature type

allele

Associated gene

Hsap\YARS1

Associated Insertion(s)

Carried in Construct

P{UAS-hYARS.153-156delVKQV}

PBac{UAS-YARS.153-156delVKQV}

Key Links

Transgenic product class

inframe_deletion

(Storkebaum et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Storkebaum et al., 2009)

Mutagen

in vitro construct

(Niehues et al., 2015, Storkebaum et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-hYARS.153-156delVKQV}

PBac{UAS-YARS.153-156delVKQV}

Cytology

Description

UAS regulates expression of Hsap\YARS cDNA lacking amino acid residues 153-156 (a mutation that is linked to Charcot-Marie-Tooth disease).

(Niehues et al., 2015)

UASt regulatory sequences drive expression of a mutated form of Hsap\YARS which lacks amino acid residues 153-156.

(Storkebaum et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\YARS1

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 Charcot-Marie-Tooth disease

CEA

(Storkebaum et al., 2009)

model of Charcot-Marie-Tooth disease dominant intermediate C

CEA

(Ermanoska et al., 2023, Bervoets et al., 2019)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Niehues et al., 2015, Storkebaum et al., 2009)

YARS1:p.Val153_Val156del

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Charcot-Marie-Tooth disease, dominant intermediate C

External database links

ClinVar: YARS1_6190

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

giant fiber neuron, with Scer\GAL4^c17

(Storkebaum et al., 2009)

giant fiber neuron, with Scer\GAL4^shot-OK307

(Storkebaum et al., 2009)

Detailed Description

Statement

Reference

Expression of one copy of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of either Scer\GAL4^Act5C.PU or Scer\GAL4^tub.PU results in normal adult offspring. Expression of two copies of Scer\GAL4^Act5C.PU results in partial lethality.

Pan-neuronal expression of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^elav.PU has no effect on motor performance in negative gravitaxis assays.

No obvious degeneration is observed when Hsap\YARS^{153-156delVKQV.Scer\UAS} is expressed under the control of Scer\GAL4^nSyb.PS.

No jumping defects are seen when Hsap\YARS^{153-156delVKQV.Scer\UAS} is expressed under the control of Scer\GAL4^Act5C.PU. Some flying defects are observed.

(Storkebaum et al., 2009)

Flies expressing one copy of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^Act5C.PU show normal behaviour in a negative geotaxis climbing assay. However, flies expressing two copies of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^Act5C.PU show a severely impaired performance in a negative geotaxis climbing assay compared to controls.

Aged flies expressing Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^Act5C.PU show impairment in flight ability; 12% fail to fly.

Flies expressing two copies of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^nSyb.PS show an impaired performance in a negative geotaxis climbing assay compared to controls.

Flies expressing two copies of Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^OK307 show electrophysiological defects in the giant fiber system. Some flies have normal response latencies but defects in following high frequency stimulation, whereas some flies are more severely affected and have an increased response latency. The severity and frequency of the mutant phenotype increases with age. Flies which show electrophysiological defects have morphological defects in the giant fiber synaptic terminal, which is abnormally thin or has constrictions.

38% of flies expressing Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^c17 show electrophysiological defects in the giant fiber system.

Flies expressing Hsap\YARS^{153-156delVKQV.Scer\UAS} under the control of Scer\GAL4^{shakB.lethal.4.1} do not show electrophysiological defects in the giant fiber system.

(Storkebaum et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\YARS1^{153-156delVKQV.UAS}, Scer\GAL4^sca.PU is a suppressor of scutellar bristle phenotype of Scer\GAL4^sca.PU, TyrRS^NIG.4561R

(Storkebaum et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The bristle defects caused by expression of Aats-tyr^NIG.4561R under the control of Scer\GAL4^sca.PU are not rescued by co-expression of Hsap\YARS^{153-156delVKQV.Scer\UAS}.

(Storkebaum et al., 2009)

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 (3)

Reported As

Symbol Synonym

Hsap\YARS1^{153-156delVKQV.UAS}

Hsap\YARS^{153-156delVKQV.Scer\UAS}

Hsap\YARS^{153-156delVKQV.UAS}

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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