FlyBase Allele Report: Dmel\GlyRS[P234KY.UAS.Tag:HA]

P32KYmutation. Mutation in analogous codon in human GARS implicated in Charcot-Marie-Tooth disease, type 2D; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ermanoska et al., 2014)

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

(Ermanoska et al., 2014)

model of Charcot-Marie-Tooth disease type 2

CEA

(Grice et al., 2015)

model of Charcot-Marie-Tooth disease type 2D

CEC

(Ermanoska et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Charcot-Marie-Tooth disease

is exacerbated by corolla^d01774

(Ermanoska et al., 2014)

is exacerbated by CG15599^EY06842

(Ermanoska 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.

(Ermanoska et al., 2014)

GARS1:p.Pro288delinsLysTyr

(FlyBase curators, 2019-)

Variants Synonym(s)

GARS1:p.Pro234delinsLysTyr

Associated human disease model(s)

Charcot-Marie-Tooth disease, type 2D

External database links

Comments concerning this variant

Analogous to a disease variant in mouse.

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

abnormal locomotor behavior | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

abnormal locomotor behavior | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

abnormal locomotor behavior | larval stage | heat sensitive, with Scer\GAL4^elav.PU

(Grice et al., 2015)

abnormal neuroanatomy, with Scer\GAL4^shot-OK307

(Ermanoska et al., 2014)

abnormal neuroanatomy | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

abnormal neuroanatomy | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

abnormal neuroanatomy | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

abnormal neurophysiology, with Scer\GAL4^c42.2

(Ermanoska et al., 2014)

abnormal neurophysiology, with Scer\GAL4^{shakB.lethal.4.1}

(Ermanoska et al., 2014)

abnormal neurophysiology, with Scer\GAL4^shot-OK307

(Ermanoska et al., 2014)

lethal | heat sensitive, with Scer\GAL4^1032.hx

(Grice et al., 2015)

lethal - all die before end of first instar larval stage, with Scer\GAL4^Act5C.PI

(Ermanoska et al., 2014)

lethal - all die before end of pupal stage, with Scer\GAL4^nSyb.PS

(Ermanoska et al., 2014)

majority die during pupal stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

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

(Grice et al., 2015)

partially lethal | heat sensitive, with Scer\GAL4^how-24B

(Grice et al., 2015)

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

(Grice et al., 2015)

visible, with Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

Phenotype Manifest In

axon | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

axon | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

axon | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

eye, with Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

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

(Ermanoska et al., 2014)

NMJ bouton | larval stage, with Scer\GAL4^1032.hx

(Grice et al., 2015)

NMJ bouton | larval stage, with Scer\GAL4^how-24B

(Grice et al., 2015)

NMJ bouton | larval stage, with Scer\GAL4^Mhc.PU

(Grice et al., 2015)

wing | heat sensitive, with Scer\GAL4^1032.hx

(Grice et al., 2015)

Detailed Description

Statement

Reference

Scer\GAL4^1032.hx Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} escapers (raised at 25[o]C) fail to expand their wings.

Scer\GAL4^1032.hx, Scer\GAL4^elav.PU, Scer\GAL4^how-24B or Scer\GAL4^Mhc.PU-mediated expression results in reduced larval muscle contractions. This is seen when larvae are raised at 20 or 25o[C] in all cases except Scer\GAL4^elav.PU, where the effect is only seen at 25[o]C.

Scer\GAL4^1032.hx-mediated expression results in reduced bouton number and increased bouton size at larval neuromuscular junctions. Scer\GAL4^how-24B or Scer\GAL4^Mhc.PU-mediated, but not Scer\GAL4^elav.PU-mediated expression also reduces bouton number. Synaptic denervation and axon degeneration are also apparent in these animals. No gross changes in muscle size or structure are observed.

(Grice et al., 2015)

Ubiquitous expression of Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} under the control of either a strong Act5C driver (the P{Act5C-GAL4}25FO1 insertion of Scer\GAL4^Act5C.PI) or a weaker one (P{Act5C-GAL4}17bFO1) induces lethality at the first instar larval stage and no adult flies emerge. Expression in the nervous system under the control of Scer\GAL4^nSyb.PS reach the late stage of pupal development.

Flies expressing Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^OK307 exhibit defects in the Giant Fibre-Trochanteral-Motoneuron-Tergotrochanteral Muscle (GF-TTMn-TTM) circuit. Upon GF stimulation, 40% of recordings show complete absence of the TTM response. In the remaining 60% of recordings, response latencies are severely increased compared to controls. Following frequencies after a train of stimulations at 100 Hz are significantly reduced compared to wild type. Neither presynaptic expression under the control of Scer\GAL4^c42.2, or post-synaptic (Scer\GAL4^{shakB.lethal.4.1}) significantly affects the response latency, but the ability of the GF-TTMn to TTM pathway to follow repetitive stimulations is significantly reduced to ~50% using either GAL4 line.

Giant Fibre neuron morphology is disrupted in flies expressing Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^OK307. The synaptic terminal is abnormally thin and the axon as well as the synaptic terminal contains prominent vacuoles. Levels of cell death are similar to controls, and the neurons of the GF circuit are present in all animals.

Expression of Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU causes a mild rough eye phenotype.

(Ermanoska et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has visible phenotype, enhanceable by corolla^d01774, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has visible phenotype, enhanceable by CG15599^EY06842, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

NOT Enhanced by

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has visible phenotype, non-enhanceable by lncRNA:CR43132^EY02909, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

Enhancer of

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU is an enhancer of visible phenotype of Scer\GAL4^GMR.PU, corolla^d01774

(Ermanoska et al., 2014)

Phenotype Manifest In

Enhanced by

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by corolla^d01774, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by CG15599^EY06842, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

NOT Enhanced by

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU has eye phenotype, non-enhanceable by lncRNA:CR43132^EY02909, Scer\GAL4^GMR.PU

(Ermanoska et al., 2014)

Enhancer of

Statement

Reference

GlyRS^{P234KY.UAS.Tag:HA}, Scer\GAL4^GMR.PU is an enhancer of eye phenotype of Scer\GAL4^GMR.PU, corolla^d01774

(Ermanoska et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Co-expression of one copy each of CG8316^d01774 and Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} under the control of Scer\GAL4^GMR.PU enhances the rough eye phenotype seen when either transgene is expressed alone.

One copy of CG15599^EY06842 enhances the rough eye phenotype seen when Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} is expressed under the control of Scer\GAL4^GMR.PU.

One copy of CR43132^EY02909 does not enhance the rough eye phenotype seen when Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1} is expressed under the control of Scer\GAL4^GMR.PU.

(Ermanoska et al., 2014)

Xenogenetic Interactions

Statement

Reference

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

Aats-gly^{P234KY.Scer\UAS.T:Ivir\HA1}

GlyRS^{P234KY.Scer\UAS.T:Ivir\HA1}

GlyRS^{P234KY.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (4)

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