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WormBase Tree Display for Variation: WBVar01474241

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Name Class

WBVar01474241EvidencePaper_evidenceWBPaper00042171
NamePublic_nameet17
Other_nameZC376.7c.2:c.11G>A
ZC376.7b.2:c.11G>A
CE32033:p.Arg4His
ZC376.7b.1:c.11G>A
ZC376.7a.1:c.11G>A
ZC376.7c.1:c.11G>A
ZC376.7a.2:c.11G>A
CE15205:p.Arg4His
CE38576:p.Arg4His
HGVSgCHROMOSOME_V:g.14194493G>A
Sequence_detailsSMapS_parentSequenceZC376
Flanking_sequencestctgaaacagtaccatcaaaatgttttccctgtgggacgtctcacaacttttggtgccc
Mapping_targetZC376
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00031163
WBStrain00052572
LaboratoryQC
StatusLive
AffectsGeneWBGene00013878
TranscriptZC376.7c.1 (12)
ZC376.7a.2 (12)
ZC376.7b.2 (12)
ZC376.7a.1 (12)
ZC376.7c.2 (12)
ZC376.7b.1 (12)
InteractorWBInteraction000519944
WBInteraction000537291
GeneticsInterpolated_map_positionV6.19599
DescriptionPhenotypeWBPhenotype:0000030Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Remark"The statin-resistant mutants also improved the growth of a lethal HMG-CoA reductase null mutant but only when small doses of mevalonate were also provided, suggesting that some residual HMG-CoA reductase activity persists in statin-treated worms (Fig. S1A)."Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
PenetranceHighPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
DominantPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Affected_byMoleculeWBMol:00004697Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Phenotype_assayGenotypehmgr-1(tm4368)Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
WBPhenotype:0000136Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
Remark"The endogenous UPRmt targets hsp-6, hsp-60 and timm-23 were significantly induced in the atfs-1(et17) and atfs-1(et18) strains, relative to N2 (Fig. 7e), demonstrating constitutive activation of the UPRmt in these animals."Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
WBPhenotype:0001171Paper_evidenceWBPaper00042171
WBPaper00045028
Curator_confirmedWBPerson488
WBPerson2987
RemarkFigure S3APaper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
"To determine whether constitutive activation of the UPRmt is sufficient to extend lifespan in the absence of ETC inhibition, we measured the lifespans of strains carrying either the atfs-1(et17) or atfs-1(et18) alleles. In both cases, lifespan was significantly reduced at 20C, rather than extended (Fig. 7a,b). Similar results were obtained at 25C, although the reduction in lifespan was attenuated at the higher temperature (Fig. 7c,d)."Paper_evidenceWBPaper00045028
Curator_confirmedWBPerson2987
PenetranceHighPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
DominantPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00042171
WBPaper00045028
Curator_confirmedWBPerson488
WBPerson2987
WBPhenotype:0001236Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
Remark"the UPRmt reporters hsp-60::GFP and hsp-6::GFP (but not the UPRer reporter hsp-4::GFP) are constitutively expressed in the mutants (Fig. 2C)"Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
Phenotype_assayGenotypehsp-60::GFPPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
WBPhenotype:0001502Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Remark"The isolated mutants are resistant to two statins (fluvastatin and rosuvastatin) and to ibandronate (which inhibits farnesyl diphosphate synthase, i.e., several steps downstream of HMG-CoA reductase) (Fig. 1 B-D)."Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
PenetranceHighPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
DominantPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Affected_byMoleculeWBMol:00007789Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
WBPhenotype:0001719Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Remark"the UPRmt reporters hsp-60::GFP and hsp-6::GFP (but not the UPRer reporter hsp-4::GFP) are constitutively expressed in the mutants (Fig. 2C)"Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
PenetranceHighPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
DominantPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
WBPhenotype:0001990Paper_evidenceWBPaper00048404
Curator_confirmedWBPerson2987
Remark"These gain-of-function mutations in the atfs-1 gene (leading to constitutive mtUPR activation) were sufficient to protect against a severe hypoxic injury, which led to the death of wild-type worms (Figure 2F), indicating that mtUPR activation by ATFS-1 is sufficient to protect against hypoxic injury."Paper_evidenceWBPaper00048404
Curator_confirmedWBPerson2987
EQ_annotationsGO_termGO:0001666PATO:0000460Paper_evidenceWBPaper00048404
Curator_confirmedWBPerson2987
Phenotype_assayTreatmentAnimals were exposed to 20 hours of hypoxia and assayed for survivalPaper_evidenceWBPaper00048404
Curator_confirmedWBPerson2987
WBPhenotype:0002379Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
PenetranceHighPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
DominantPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00042171
Curator_confirmedWBPerson488
Phenotype_not_observedWBPhenotype:0000061Paper_evidenceWBPaper00050972
Curator_confirmedWBPerson2563
Remarktested in monoxenic and axenic mediumPaper_evidenceWBPaper00050972
Curator_confirmedWBPerson2563
WBPhenotype:0001502Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
Remark"Finally, there is no evidence that the mutant alleles et15-et18 confer general resistance against xenobiotics because they exhibited no resistance to several tested growth inhibitors (Fig. S1 B-D)."Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
Affected_byMoleculeWBMol:00003029Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
WBMol:00003638Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
WBMol:00003033Paper_evidenceWBPaper00042171
Curator_confirmedWBPerson2987
ReferenceWBPaper00042171
WBPaper00045028
WBPaper00048404
WBPaper00050972
WBPaper00062005
MethodSubstitution_allele