A Database of Drosophila Genes & Genomes

FB2008_07, released August 8, 2008
 

Allele Hsap\ATX182Q.Scer\UAS

General Information
SymbolHsap\ATX182Q.Scer\UASSpeciesH. sapiens
NameFlyBase IDFBal0119474
Feature typealleleCreated / Updated2006-08-20/2006-08-20
Associated geneHsap\ATX1
Allele class
Mutagenin vitro construct | regulatory fusion
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Allele class
Mutagen
Mapped Features and Mutations
Type
Symbol & Location
Additional Notes
References
 
 
 
 
Associated Sequence Data
DDBJ /
EMBL /
GenBank
DNA sequence
Protein sequence
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UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Progenitor genotype
      Nature of the lesion
      Statement
      Reference
      Construct: A Hsap\ATX1 cDNA containing 82 CAG repeats is driven by Scer\UAS sequences.
      Assay mode
      Carried in construct
      Cytology
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      interneuron & cell body, with Scer\GAL4VNC.ap
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      Statement
      Reference
      When Hsap\ATX182Q.Scer\UAS is driven by Scer\GAL4GMR.PF at 23oC, a mild degenerative phenotype is seen in the eye with a moderate disruption of the regular external lattice, a thinner retina layer, and mildly abnormal rhabdomeres.
      Overexpression of Hsap\ATX182Q.Scer\UAS, under the control of Scer\GAL4ninaE.PT results in neurodegeneration in the eye. At 2 days after eclosion, no obvious morphological changes in the photoreceptor cells are observed. At 28 days, many large holes and a loss of cell integrity is observed. On average, only one or two photoreceptor cells remain out of the eight found in normal eyes. Overexpression of Hsap\ATX182Q.Scer\UAS, under the control of Scer\GAL4GMR.PF induces eye abnormalities. The external structures of the eyes exhibit disorganised ommatidia and a loss of interommatidial bristles. They also exhibit a loss of rhabdomeres and tissue integrity. Overexpression of Hsap\ATX182Q.Scer\UAS, under the control of Scer\GAL4GMR.PF also generates extra wing-vein tissue. Overexpression of Hsap\ATX182Q.Scer\UAS, under the control of Scer\GAL4C5 in the wing pouch at 27oC results in several vein abnormalities and wing atrophy. Overexpression of Hsap\ATX182Q.Scer\UAS, under the control of Scer\GAL4C96 in the wing margin causes bristle abnormalities including patterning defects and bristle loss. Overexpression of Hsap\ATX182Q.Scer\UAS in the sensory organ precursor cells under the control of Scer\GAL4sca-109-68 causes a loss of thoracic bristles.
      Flies expressing Hsap\ATX1[82Q.Scer\UAS] under the control of Scer\GAL4[GMR.PF] have a severe external eye phenotype with disorganised and fused ommatidia and loss of interommatidial bristles. There is severe retinal degeneration, as evident by reduction in depth of the retina.
      Expression of Hsap\ATX1[82Q.Scer\UAS] in the eye, under the control of Scer\GAL4[GMR.PF], causes ommatidial disorganization and fusion, as well as interommatidial bristle loss. Expression of Hsap\ATX1[82Q.Scer\UAS] in the wing pouch, driven by Scer\GAL4[C5], results in the production of smaller wings which have a thicker L3 vein, a missing posterior crossvein, and ectopic vein formation. These phenotypes are most prominent in the posterior part of the wing, where transgene expression is highest. Males showing high levels of Hsap\ATX1[82Q.Scer\UAS] expression, when the transgene is inserted in the X chromosome, have atrophic wings.
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      Statement
      Reference
      Hsap\ATX182Q.Scer\UAS, Scer\GAL4C5 has visible phenotype, enhanceable by cic[+]/cicD49
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      hide Genetic Interactions
      Statement
      Reference
      Coexpression of sensScer\UAS.cNa with Hsap\ATX182Q.Scer\UAS (both under the control of Scer\GAL4sca-109-68) abolishes the loss of thoracic bristles phenotype of Hsap\ATX182Q.Scer\UAS overexpression, although the number of extra bristles is decreased compared to sensScer\UAS.cNa expression alone.
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      Statement
      Reference
      Expression of Hsap\ATX130Q.Scer\UAS when driven by Scer\GAL4GMR.PF can lead to a severe degeneration of the retina. When driven by Scer\GAL4VNC.ap, a progressive elimination of the cell bodies and axonal projections of interneurons. The addition of DnaJ-1EP411 to Hsap\ATX182Q.Scer\UAS flies produces a suppression of the eye phenotype, revealing less disrupted ommatidia and improved retinal thickness.
      The addition of 14-3-3εScer\UAS.cCa enhances the eye phenotypes seen in Hsap\ATX182Q.Scer\UAS, Scer\GAL4GMR.PF animals alone. They have profoundly disordered ommatidia, a thin and disorganised retina layer, and grossly abnormal rhabdomeres. Animals expressing Akt1Scer\UAS.T:Ivir\HA1 and Hsap\ATX182Q.Scer\UAS (under the control of Scer\GAL4GMR.PF) have a much stronger eye phenotype than seen in either Akt1Scer\UAS.T:Ivir\HA1 or Hsap\ATX182Q.Scer\UAS on their own. Profoundly disorganised ommatidia and numerous necrotic spots are seen, as well a severely disorganised retina with missing or malformed rhabdomeres. The addition of Dp(3;Y)L58 to animals expressing Akt1Scer\UAS.T:Ivir\HA1 (under the control of Scer\GAL4GMR.PF) enhances the eye neurodegeneration phenotype. The addition of Pi3K92EScer\UAS.T:Hsap\MYC (driven by Scer\GAL4GMR.PF) dramatically worsens the Hsap\ATX182Q.Scer\UAS neurodegeneration phenotype in the eye. the addition of Pk61CEP3553 (driven by Scer\GAL4GMR.PF) has no effect on the neurodegeneration phenotype in the eye. The addition of Akt104226 to animals expressing Akt1Scer\UAS.T:Ivir\HA1 (under the control of Scer\GAL4GMR.PF) suppresses the eye neurodegeneration phenotype.
      Co-expression of Hsap\STUB1[Scer\UAS.cAa] suppresses the eye phenotype caused by expression of Hsap\ATX1[82Q.Scer\UAS] under the control of Scer\GAL4[GMR.PF], with the degree of suppression depending on the level of Hsap\STUB1[Scer\UAS.cAa] expression.
      Coexpression of cic[Scer\UAS.cLa] and Hsap\ATX1[82Q.Scer\UAS], both under the control of Scer\GAL4[GMR.PF], results in a milder eye phenotype than expression of Hsap\ATX1[82Q.Scer\UAS] alone; there is less ommatidial disorganization and fusion and the interommatidial bristles are partially restored. A cic[D49]/+ background causes worsened ommatidial disorganization of Scer\GAL4[GMR.PF]>Hsap\ATX1[82Q.Scer\UAS]-expressing eyes, when flies are raised at room temperature. Scer\GAL4[C5]-driven expression of Hsap\ATX1[82Q.Scer\UAS] in a cic[D49]/+ background results in more prominent L3 vein thickening and increased ectopic wing vein formation in the posterior part of the interveins compared to expression of Hsap\ATX1[82Q.Scer\UAS] in a wild-type background. Coexpression of cic[Scer\UAS.cLa] and Hsap\ATX1[82Q.Scer\UAS], under the control of Scer\GAL4[C5], results in restoration of the posterior crossvein, which is missing in flies expressing either transgene separately.
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      Reported As
      Symbol Synonym
      Hsap\ATX182Q.Scer\UAS
       
      Name Synonym
      Secondary FlyBase IDs
        hide References ( 5 )
        Research paper
        Al-Ramahi et al., 2006, J. Biol. Chem. 281(36): 26714--26724
        CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. [FBrf0192832]
        Lam et al., 2006, Cell 127(7): 1335--1347
        ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. [FBrf0193611]
        Tsuda et al., 2005, Cell 122(4): 633--644
        The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. [FBrf0187241]
        Chen et al., 2003, Cell 113(4): 457--468
        Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. [FBrf0159690]
        Fernandez-Funez et al., 2000, Nature 408(6808): 101--106
        Identification of genes that modify ataxin-1-induced neurodegeneration. [FBrf0131287]