FB2024_04 , released June 25, 2024
Allele: Dmel\ash122
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General Information
Symbol
Dmel\ash122
Species
D. melanogaster
Name
FlyBase ID
FBal0000754
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
ash1VV183
Key Links
Genomic Maps

Nature of the Allele
Progenitor genotype
Cytology
Description

Amino acid replacement: Q47term.

Nucleotide substitution: C1155T.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

C19597787T

Reported nucleotide change:

C1155T

Amino acid change:

Q130term | ash1-PB; Q130term | ash1-PC

Reported amino acid change:

Q47term

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

ash121/ash122 transheterozygotes show a homeotic phenotype, with haltere towards wing and third leg towards second leg transformations, as well as partial transformation of abdominal segments 6 and 5 towards segments 5 and 4, which is visible from the partial loss of pigmentation on tergites 5 and 6 and appearance of bristles on sternite 6.

ash121/Df(3L)Exel9011 are near fully lethal at early pupal stage, before the adult cuticle is formed. The single male with the adult cuticle developed enough for examination shows clear posterior to anterior transformations of the third thoracic and abdominal segments.

ash121/ash122 adults or ash122/Df(3L)Exel9011 individuals rescued to adulthood by two copies of either ash1ΔBAH.Ubi-p63E, ash1ΔPHD.Ubi-p63E or ash1ΔSET.Ubi-p63E show homeotic transformation: transformation of the third thoracic segment (T3) to second thoracic segment (T2), including partial transformation of haltere to wing, characterized by the appearance of bristles on the haltere, appearance of hypopleural bristles on T3, and the third leg to second leg transformation manifested by the appearance of apical and pre-apical bristles on the third leg; transformation of posterior abdominal segments to more anterior fate, visible by the partial loss of pigmentation in tergites 5.

ash122/ash122 animals that lack zygotically expressed Ash1 protein and either contain or lack maternally deposited Ash1 protein (due to the germline clones in the mother) develop to pupal stage and die as pharate adults.

ash122/ash122 pharate adults that lack both maternally deposited and zygotically expressed Ash1 protein exhibit a spectrum of anteriorly directed homeotic transformations (HOX loss-of-function syndrome) without any other morphological defects compared to controls. Specifically, they exhibit transformation of the third to the second thoracic segment; transformations of the abdominal segments A5 and A6 towards A4 (most noticeable by the loss of pigmentation in males); and development of an A7 segment that is normally suppressed in controls.

Most ash1R1288A/ash122 transheterozygotes exhibit a third leg to second leg partial transformation, as indicated by the presence of ectopic apical bristles, and exhibit a haltere to wing partial transformation, as indicated by the presence of ectopic bristles on the pedicel, as compared to wild-type and heterozygous controls.

Homozygous haltere discs are larger than normal, probably due to a partial transformation into wing discs.

Lethality occurs during the larval and pupal stages. Double heterozygotes with Ubxabx-1, trxel2 or brm2 exhibit transformation of third leg to second leg identity and haltere to wing transformation.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
NOT suppressed by
Enhancer of
Statement
Reference

ash1[+]/ash122 is an enhancer of visible | homeotic phenotype of Dsp11

Suppressor of
Statement
Reference

ash1[+]/ash122 is a suppressor of visible | dominant phenotype of gcmPyx

Other
Statement
Reference
Phenotype Manifest In
Suppressed by
NOT suppressed by
Statement
Reference

ash122/ash121 has haltere phenotype, non-suppressible by NSDds46/NSDds46

ash122/ash121 has wing | ectopic phenotype, non-suppressible by NSDds46/NSDds46

Enhancer of
Statement
Reference

ash1[+]/ash122 is an enhancer of wing vein | ectopic phenotype of Snr1E1

ash122 is an enhancer of eye phenotype of CycEJP

ash1[+]/ash122 is an enhancer of adult abdominal segment 4 | ectopic phenotype of E(z)Trm

ash1[+]/ash122 is an enhancer of adult abdominal segment 5 phenotype of E(z)Trm

ash1[+]/ash122 is an enhancer of adult mesothoracic segment | ectopic phenotype of E(z)Trm

ash1[+]/ash122 is an enhancer of adult metathoracic segment phenotype of E(z)Trm

ash1[+]/ash122 is an enhancer of adult prothoracic segment phenotype of E(z)Trm

ash1[+]/ash122 is an enhancer of wing | ectopic phenotype of Dsp11

ash1[+]/ash122 is an enhancer of haltere phenotype of Dsp11

NOT Enhancer of
Statement
Reference

ash122 is a non-enhancer of eye phenotype of Scer\GAL4ey.PH, osaUAS.cCa

Suppressor of
Statement
Reference

ash1[+]/ash122 is a suppressor of chaeta | increased number phenotype of gcmPyx

ash1[+]/ash122 is a suppressor of wing vein | ectopic phenotype of Snr1E1

ash122 is a suppressor of wing phenotype of Scer\GAL4OK386, nejUAS.cMa

NOT Suppressor of
Statement
Reference

ash122 is a non-suppressor of eye phenotype of Scer\GAL4ey.PH, osaUAS.cCa

Other
Statement
Reference
Additional Comments
Genetic Interactions
Statement
Reference

The haltere to wing partial transformation exhibited by most ash1R1288A/ash122 transheterozygotes is fully suppressed by one copy of Df(2R)XL26 and is partially suppressed by the expression of Caf1-55::MRG15Scer\UAS.cHa or Caf1-55::MRG15Δchromo.Scer\UAS, but not of MRG15Scer\UAS.cHa or Caf1-55Scer\UAS.cHa, under the control of Scer\GAL4arm.PS; their third leg to second leg partial transformation, however, is not suppressed by the expression of Caf1-55::MRG15Scer\UAS.cHa under the control of Scer\GAL4arm.PS.

ash122 sktlΔ15 double heterozygotes show a homeotic transformation of third leg to second leg (3.7% penetrance). ash122 sktlΔ20 double heterozygotes show a homeotic transformation of third leg to second leg (2.4% penetrance).

At 29oC, ash122 suppresses the ectopic vein that extends distally from the posterior crossvein in Snr1E1 animals. but enhances the extra vein material seen posterior of the L5 wing vein.

The frequency of transformation of halteres into wings seen in Dsp11/Y flies is enhanced by ash122/+. The enhancement is dramatically reduced if the female parents are heterozygous rather than homozygous for Dsp11.

The addition of ash122 does not affect the variable eye size phenotype seen in osaScer\UAS.cCa/Scer\GAL4ey.PH flies.

The eye colour of flies carrying w4.Ubx.bxd:pbx.N is strongly reduced if they are also heterozygous for ash122.

Xenogenetic Interactions
Statement
Reference

The haltere to wing partial transformation exhibited by most ash1R1288A/ash122 transheterozygotes is fully suppressed by one copy of Df(2R)XL26 and is partially suppressed by the expression of Caf1-55::Hsap\MORF4L1Scer\UAS.cHa under the control of Scer\GAL4arm.PS.

Complementation and Rescue Data
Comments

Either ash1ΔSET.Ubi-p63E or ash1ΔPHD.Ubi-p63E homozygosity rescue ash122/Df(3L)Exel9011 transheterozygotes to adulthood. However, adults have low fitness, with no stable stocks being established, and all individuals show homeotic transformation.

ash122/Df(3L)Exel9011 individuals rescued by ash1Ubi-p63E.FL or ash1ΔAT.Ubi-p63E are viable, fertile and do not show homeotic transformations.

ash122/ash122 adults expressing ash1C.Tag:TAP or ash1N.Tag:TAP are morphologically normal compared to controls.

ash1+t9.5/+ expressing ash122/ash122 animals derived from ash122/ash122 mothers are fertile and morphologically normal compared to controls.

ash1R1464A expressing ash122/ash122 animals that contain maternally deposited wild-type Ash1 protein and zygotically expressed Ash1 protein with the R1464A point mutation are fertile.

ash1R1464A/+ expressing ash122/ash122 animals that contain maternally deposited and zygotically expressed Ash1 protein with the R1464A point mutation exhibit similar homeotic transformations as ash122/ash122 pharate adults. A substantial fraction of them eclose from the pupal case but die in 1-2 days.

Both the third leg to second leg partial transformation and the haltere to wing partial transformation exhibited by ash1R1288A/ash122 transheterozygotes are rescued by the expression of ash1Scer\UAS.cHa under the control of Scer\GAL4arm.PS.

Images (0)
Mutant
Wild-type
Stocks (1)
Notes on Origin
Discoverer
Comments
Comments

Range of lethality for transheterozygotes extends from the third larval instar for the most severe alleles to the pharate adult stage for the least severe alleles.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (7)
References (30)