Allele Hsap\HTT^{Q20.ex1p.Scer\UAS}

General Information
Symbol	Hsap\HTT^{Q20.ex1p.Scer\UAS}	Species	H. sapiens
Name		FlyBase ID	FBal0127293
Feature type	allele	Associated gene	Hsap\HTT

Allele class
Mutagen	in vitro construct - regulatory fusion, in vitro construct - coding region fusion
Recent Updates
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FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Nature of the Allele
Allele class
Mutagen	in vitro construct - coding region fusion (Steffan et al., 2001) in vitro construct - regulatory fusion (Steffan et al., 2001)
Mutations Mapped to the Genome

Type Location Additional Notes References
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype
Nature of the lesion	Statement Reference Construct: Scer\UAS sequences drive expression of a mutated first exon of the Hsap\HD gene which has a polyglutamine domain of 20 Glutamines. (Steffan et al., 2001)
Carried in construct	P{UAS-HTT.Q20.ex1p} (Wolfgang et al., 2005, Steffan et al., 2001, Slepko et al., 2006, Gunawardena et al., 2003, Sengupta and Lakhotia, 2006, Mallik and Lakhotia, 2009, Arya et al., 2010, Lievens et al., 2005)
Cytology
Phenotypic Data
Phenotypic Class
	increased cell death, with Hsap\HTT^{Q93.ex1p.Scer\UAS}, Scer\GAL4^ninaE.PD (Slepko et al., 2006) neuroanatomy defective, with Hsap\HTT^{Q93.ex1p.Scer\UAS}, Scer\GAL4^ninaE.PD (Slepko et al., 2006)
Phenotype Manifest In
	photoreceptor cell, with Hsap\HTT^{Q93.ex1p.Scer\UAS}, Scer\GAL4^ninaE.PD (Slepko et al., 2006) rhabdomere, with Hsap\HTT^{Q93.ex1p.Scer\UAS}, Scer\GAL4^ninaE.PD (Slepko et al., 2006)
Detailed Description
	Statement Reference Scer\GAL4[elav-C155]-driven expression of Hsap\HD[Q20.ex1p.Scer\UAS] does not have any adverse effect on survival or longevity of flies. (Mallik and Lakhotia, 2009) No visible aggregates are observed when Hsap\HD^{Q20.ex1p.Scer\UAS} is expressed under the control of Scer\GAL4^ninaE.PD. Co-expression of Hsap\HD^{Q20.ex1p.Scer\UAS} with Hsap\HD^{Q93.ex1p.Scer\UAS} under the control of Scer\GAL4^ninaE.PD results in an increase of cells with nuclear inclusions at days 5 and 6, compared to expression of just Hsap\HD^{Q93.ex1p.Scer\UAS} alone. By day 10, almost all cell nuclei in flies expressing both Hsap\HD^{Q20.ex1p.Scer\UAS} and Hsap\HD^{Q93.ex1p.Scer\UAS} contain inclusions. (Slepko et al., 2006) Flies expressing Hsap\HTT[Q20.ex1p.Scer\UAS] under the control of Scer\GAL4[Eaat1.PR] show no behavioural defects and have a normal lifespan. (Lievens et al., 2005) Expression of Hsap\HD^{Q20.ex1p.Scer\UAS} at 25^oC, under the regulation of Scer\GAL4^elav-C155 does not affect the survival rate. Hsap\HD aggregates are never detected in flies expressing the non-pathogenic Hsap\HD^{Q20.ex1p.Scer\UAS} transgene (under the control of Scer\GAL4^elav-C155. (Wolfgang et al., 2005) When Hsap\HD^{Q20.ex1p.Scer\UAS} is driven by Scer\GAL4^Appl.G1a or Scer\GAL4^179Y apparently normal neurons are seen. Overexpression of Hsap\HD^{Q20.ex1p.Scer\UAS} has no effect on cell death in neurons. (Gunawardena et al., 2003)
External Data
Linkouts
Interactions
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference
Complementation & Rescue Data
Comments	Co-expression of Hsap\HD^{Q20.ex1p.Scer\UAS} with Hsap\HD^{Q93.ex1p.Scer\UAS} under the control of Scer\GAL4^ninaE.PD results in an increase of cells with nuclear inclusions at days 5 and 6, compared to expression of just Hsap\HD^{Q93.ex1p.Scer\UAS} alone. By day 10, almost all cell nuclei in flies expressing both Hsap\HD^{Q20.ex1p.Scer\UAS} and Hsap\HD^{Q93.ex1p.Scer\UAS} contain inclusions. Co-expression of Hsap\HD^{Q20.ex1p.Scer\UAS} with Hsap\HD^{Q93.ex1p.Scer\UAS} under the control of Scer\GAL4^ninaE.PD increases the speed and severity of neuronal degeneration compared to expression of Hsap\HD^{Q93.ex1p.Scer\UAS} alone (under the control of Scer\GAL4^ninaE.PD), with an average of only 4.7 rhabdomeres per ommatidium remaining. (Slepko et al., 2006)
Stocks ( 0 )

Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 2 )
Reported As
Symbol Synonym	Hsap\HD^{Q20.ex1p.Scer\UAS} Hsap\HTT^{Q20.ex1p.Scer\UAS}
Name Synonym
Secondary FlyBase IDs

References ( 8 )
Research paper	Arya et al., 2010, Ann. Neurosci. 17(1): 8--17 Hsp60D - A novel modifier of polyglutamine-mediated neuro degeneration in Drosophila. [FBrf0211649] Mallik and Lakhotia, 2009, RNA Biol. 6(4): 464--478 RNAi for the large non-coding hsromega transcripts suppresses polyglutamine pathogenesis in Drosophila models. [FBrf0209246] Sengupta and Lakhotia, 2006, RNA Biol. 3(1): e1--e8 Altered expressions of the noncoding hsromega gene enhances poly-Q-induced neurotoxicity in Drosophila. [FBrf0199067] Slepko et al., 2006, Proc. Natl. Acad. Sci. U.S.A. 103(39): 14367--14372 Normal-repeat-length polyglutamine peptides accelerate aggregation nucleation and cytotoxicity of expanded polyglutamine proteins. [FBrf0193151] Lievens et al., 2005, Hum. Mol. Genet. 14(5): 713--724 Expanded polyglutamine peptides disrupt EGF receptor signaling and glutamate transporter expression in Drosophila. [FBrf0184022] Wolfgang et al., 2005, Proc. Natl. Acad. Sci. U.S.A. 102(32): 11563--11568 Suppression of Huntington's disease pathology in Drosophila by human single-chain Fv antibodies. [FBrf0188282] Gunawardena et al., 2003, Neuron 40(1): 25--40 Disruption of axonal transport by loss of huntingtin or expression of pathogenic polyQ proteins in Drosophila. [FBrf0167960] Steffan et al., 2001, Nature 413(6857): 739--743 Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. [FBrf0139769]

Allele Hsap\HTTQ20.ex1p.Scer\UAS

Allele Hsap\HTT^{Q20.ex1p.Scer\UAS}