FlyBase Allele Report: Hsap\YARS1[E196K.UAS]

General Information

Symbol

Hsap\YARS1^E196K.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0297460

Feature type

allele

Associated gene

Hsap\YARS1

Associated Insertion(s)

Carried in Construct

P{UAS-hYARS.E196K}

PBac{UAS-YARS.E196K}

Also Known As

TyrRS-E196K

Key Links

Transgenic product class

missense_variant

(Storkebaum et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Storkebaum et al., 2009)

Mutagen

in vitro construct

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

Progenitor genotype

Carried in construct

P{UAS-hYARS.E196K}

PBac{UAS-YARS.E196K}

Cytology

Description

UAS regulates expression of Hsap\YARS cDNA containing a E196K mutation (which is linked to Charcot-Marie-Tooth disease).

(Niehues et al., 2015)

UASt regulatory sequences drive expression of a mutant form of Hsap\YARS containing an E196K amino acid replacement.

(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

(Zuko et al., 2021, Bervoets et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease

is exacerbated by CG15599^EY06842

(Ermanoska et al., 2014)

is exacerbated by corolla^d01774

(Ermanoska et al., 2014)

is exacerbated by CG15599^KK105767

(Ermanoska et al., 2014)

model of Charcot-Marie-Tooth disease dominant intermediate C

is exacerbated by Fim^e03892

(Ermanoska et al., 2023)

is exacerbated by coro^EY05114

(Ermanoska et al., 2023)

is exacerbated by pod1^{UAS.GFP,Tag:MYC}

(Ermanoska et al., 2023)

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.Glu196Lys

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Charcot-Marie-Tooth disease, dominant intermediate C

External database links

ClinVar: YARS1_6189

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal flight, with Scer\GAL4^Act5C.PU

(Storkebaum et al., 2009)

abnormal locomotor behavior, with Scer\GAL4^Act5C.PU

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

abnormal locomotor behavior, with Scer\GAL4^nSyb.PS

(Storkebaum et al., 2009)

abnormal locomotor behavior | adult stage, with Scer\GAL4^Act5C.PU

(Storkebaum et al., 2009)

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

(Storkebaum et al., 2009)

abnormal locomotor behavior | adult stage, with Scer\GAL4^nSyb.PS

(Storkebaum et al., 2009)

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

(Bervoets et al., 2019)

abnormal neuroanatomy | adult stage, with Scer\GAL4^GMR91H05

(Bervoets et al., 2019)

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^nSyb.PU

(Bervoets et al., 2019)

abnormal neurophysiology | adult stage, with Scer\GAL4^GMR91H05

(Bervoets et al., 2019)

abnormal neurophysiology | adult stage, with Scer\GAL4^shot-OK307

(Storkebaum et al., 2009)

flightless, with Scer\GAL4^Act5C.PU

(Storkebaum et al., 2009)

jumpless, with Scer\GAL4^Act5C.PU

(Storkebaum et al., 2009)

lethal, with Scer\GAL4^Act5C.PU

(Storkebaum et al., 2009)

lethal | heat sensitive, with Scer\GAL4^Tub.PU

(Storkebaum et al., 2009)

partially lethal - majority die, with Scer\GAL4^da.PU

(Storkebaum et al., 2009)

partially lethal - majority live, with Scer\GAL4^Act5C.PI

(Bervoets et al., 2019)

some die during larval stage, with Scer\GAL4^Act5C.PI

(Bervoets et al., 2019)

visible, with Scer\GAL4^ap.PU

(Storkebaum et al., 2009)

visible, with Scer\GAL4^GMR.PU

(Storkebaum et al., 2009)

Phenotype Manifest In

Detailed Description

Statement

Reference

Expressing Hsap\YARS1^E196K.UAS under the control of Scer\GAL4^GMR.long does not have a major effect on retinal morphology, as compared to controls.

Expressing Hsap\YARS1^E196K.UAS under the control of Scer\GAL4^nSyb.PU induces severe motor defects in adults (decreased climbing ability), as compared to controls; third instar larval neuromuscular junctions are smaller and have fewer boutons, as compared to controls.

Expressing Hsap\YARS1^E196K.UAS under the control of Scer\GAL4^GMR91H05 induces giant fiber degeneration, associated with a reduced ability of the giant fiber synapse to follow repetitive stimuli.

(Bervoets et al., 2019)

Expression of one copy of Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^GMR.PU has no effect on ommatidial organisation.

(Ermanoska et al., 2014)

Expression of Hsap\YARS^{E196K.Scer\UAS} under the control of either Scer\GAL4^Act5C.PU or Scer\GAL4^tub.PU results in lethality. Expression using Scer\GAL4^tub.PU at a lower temperature or expressing Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^da.PU or a weaker Scer\GAL4^Act5C.PU line results in partial lethality.

Expression of Hsap\YARS^{E196K.Scer\UAS} in muscle under the control of Scer\GAL4^Mhc.PU does not impair motor performance.

Pan-neuronal expression of Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^elav.PU results in impaired motor performance in negative gravitaxis assays. Climbing defects are also observed when Hsap\YARS^{E196K.Scer\UAS} is expressed under the control of Scer\GAL4^Act5C.PU and Scer\GAL4^nSyb.PS.

Jumping and flying defects are seen when Hsap\YARS^{E196K.Scer\UAS} is expressed under the control of Scer\GAL4^Act5C.PU.

No obvious degeneration is observed when Hsap\YARS^{E196K.Scer\UAS} is expressed under the control of Scer\GAL4^nSyb.PS.

Expression of Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^GMR.PU induces eye phenotypes. Ommatidia are an irregular shape and a non-uniform size.

Expression of Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^ap.PU induces wing and bristle phenotypes. Wings look fragile, often have a curly appearance and are occasionally damaged. Thoracic bristles are often shorter or missing.

(Storkebaum et al., 2009)

Flies expressing one copy of Hsap\YARS^{E196K.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^{E196K.Scer\UAS} under the control of Scer\GAL4^Act5C.PU show impairment in both jump and flight ability (92% of aged flies fail to fly and 30% fail to jump). This impairment is progressive, becoming more severe as the flies age.

Flies expressing Hsap\YARS^{E196K.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^{E196K.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.

(Storkebaum et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

CG15599^EY06842, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU has visible phenotype, suppressible by CG15599^KK105767, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

Enhancer of

Statement

Reference

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.long is an enhancer of visible | adult stage phenotype of Dp^UAS.cDa, E2f1^UAS.cNa, Scer\GAL4^GMR.long

(Bervoets et al., 2019)

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU is an enhancer of visible phenotype of Scer\GAL4^GMR.PU, corolla^d01774

(Ermanoska et al., 2014)

Other

Statement

Reference

Dp^UAS.cDa, E2f1^UAS.cNa, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.long has abnormal size | adult stage phenotype

(Bervoets et al., 2019)

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU, corolla^d01774 has visible phenotype

(Ermanoska et al., 2014)

CG15599^EY06842, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU has visible phenotype

(Ermanoska et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

CG15599^EY06842, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU has eye phenotype, suppressible by CG15599^KK105767, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

Enhancer of

Statement

Reference

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.long is an enhancer of eye phenotype of Dp^UAS.cDa, E2f1^UAS.cNa, Scer\GAL4^GMR.long

(Bervoets et al., 2019)

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU is an enhancer of eye phenotype of Scer\GAL4^GMR.PU, corolla^d01774

(Ermanoska et al., 2014)

Suppressor of

Statement

Reference

Hsap\YARS1^E196K.UAS, Scer\GAL4^sca.PU is a suppressor of scutellar bristle phenotype of Scer\GAL4^sca.PU, TyrRS^NIG.4561R

(Storkebaum et al., 2009)

Other

Statement

Reference

Dp^UAS.cDa, E2f1^UAS.cNa, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.long has eye phenotype

(Bervoets et al., 2019)

Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU, corolla^d01774 has eye phenotype

(Ermanoska et al., 2014)

CG15599^EY06842, Hsap\YARS1^E196K.UAS, Scer\GAL4^GMR.PU has eye phenotype

(Ermanoska et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Additional expression of Hsap\YARS1^E196K.UAS enhances the rough eye phenotype induced by the co-expression of E2f1^UAS.cNa and Dp^UAS.cDa under the control of Scer\GAL4^GMR.long, leading to a decrease in eye size.

(Bervoets et al., 2019)

Expression of one copy of Hsap\YARS^{E196K.Scer\UAS} enhances the rough eye phenotype seen when CG8316^d01774 is expressed under the control of Scer\GAL4^GMR.PU. The phenotype is suppressed upon co-expression of CG8316^GD13890.

Co-expression of one copy each of CG15599^EY06842 and Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^GMR.PU induces a rough eye phenotype. The phenotype is suppressed upon co-expression of CG15599^KK105767.

Co-expression of one copy each of CR43132^EY02909 and Hsap\YARS^{E196K.Scer\UAS} under the control of Scer\GAL4^GMR.PU does not induces a rough eye phenotype.

(Ermanoska et al., 2014)

The bristle defects caused by expression of Aats-tyr^NIG.4561R under the control of Scer\GAL4^sca.PU are completely rescued by co-expression of Hsap\YARS^{E196K.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^E196K.UAS

Hsap\YARS^{E196K.Scer\UAS}

Hsap\YARS^E196K.UAS

Name Synonyms

Secondary FlyBase IDs

References (8)

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