Allele Hsap\PABPN1^{17ala.Scer\UAS}

General Information
Symbol	Hsap\PABPN1^{17ala.Scer\UAS}	Species	H. sapiens
Name		FlyBase ID	FBal0196235
Feature type	allele	Associated gene	Hsap\PABPN1

Allele class
Mutagen	in vitro construct - regulatory 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 - regulatory fusion (Chartier et al., 2006)
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 Scer\UAS regulatory sequences drive expression of an altered form of Hsap\PABPN1 which encodes 17 alanine residues following the initial methionine, instead of the wild-type number of 10. (Chartier et al., 2006)
Carried in construct	P{UAS-PABPN1.17ala} (Chartier et al., 2006)
Cytology
Phenotypic Data
Phenotypic Class
	flightless, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) lethal \| embryonic stage, with Scer\GAL4^da.G32 (Chartier et al., 2006) lethal \| embryonic stage, with Scer\GAL4^how-24B (Chartier et al., 2006) lethal \| larval stage, with Scer\GAL4^da.G32 (Chartier et al., 2006) lethal \| larval stage, with Scer\GAL4^how-24B (Chartier et al., 2006) lethal \| pupal stage, with Scer\GAL4^da.G32 (Chartier et al., 2006) lethal \| pupal stage, with Scer\GAL4^how-24B (Chartier et al., 2006) viable, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) visible, with Scer\GAL4^Mhc.PW (Chartier et al., 2006)
Phenotype Manifest In
	embryonic/larval muscle system, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) indirect flight muscle, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) indirect flight muscle & mitochondrion, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) indirect flight muscle & nucleus, with Scer\GAL4^Mhc.PW (Chartier et al., 2006) wing, with Scer\GAL4^Mhc.PW (Chartier et al., 2006)
Detailed Description
	Statement Reference Expression of Hsap\PABPN1^{17ala.Scer\UAS}, under the control of Scer\GAL4^Mhc.PW can lead to two wing position phenotypes: wings up or wings down. When flies are raised at 25^oC, more than 90% show this phenotype by day 3. When flies are raised at 18^oC (when the Scer\GAL4 driver is less active) the phenotype reaches 90% on day 5. At this temperature, many more Scer\GAL4^Mhc.PW>Hsap\PABPN1^{17ala.Scer\UAS} flies show the phenotype than flies overexpressing a wild-type Hsap\PABPN1 construct. Although Scer\GAL4^Mhc.PW>Hsap\PABPN1^{17ala.Scer\UAS} flies show a wing position phenotype at 2 days, no extensive musculature defects can be observed at this time, although occasional vacuoles can be found in the area containing mitochondria and nuclear inclusions are present. By day 6, however, indirect flight muscle fibers are strongly affected with thin, disorganized myofibrils that have broken Z bands and no M bands. These fibers lack mitochondria and have many vacuoles present, and apoptotic nuclei can be observed. By day 16, muscle fibers are thin and strongly irregular. Locomotor muscles of third instar larvae expressing Hsap\PABPN1^{17ala.Scer\UAS} under the control of Scer\GAL4^Mhc.PW appear thin with an irregular pattern of nuclei. Nuclear structure is also affected. (Chartier et al., 2006)
External Data
Linkouts
Interactions
	Show the genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement Reference Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible \| partially by DnaJ-1^Scer\UAS.cKa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by BacA\p35^Scer\UAS.cHa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsap\HSPA1L^Scer\UAS.cWa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsc70-4^Scer\UAS.cEa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsp70Ab^EY01148, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsp83^e6A (Chartier et al., 2006)
Phenotype Manifest In
Suppressed by
Statement Reference Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has wing phenotype, suppressible \| partially by DnaJ-1^Scer\UAS.cKa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsap\HSPA1L^Scer\UAS.cWa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsc70-4^Scer\UAS.cEa, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsp70Ab^EY01148, Scer\GAL4^Mhc.PW (Chartier et al., 2006) Hsap\PABPN1^{17ala.Scer\UAS}, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsp83^e6A (Chartier et al., 2006)
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference Coexpression of the Hsc70-4^Scer\UAS.cEa or BacA\p35^Scer\UAS.cHa transgenes result in efficient suppression of the wing posture phenotype of Scer\GAL4^Mhc.PW>Hsap\PABPN1^{17ala.Scer\UAS} flies. Expression of Hsap\PABPN1^{17ala.Scer\UAS}, under the control of Scer\GAL4^Mhc.PW in a Hsp70Ab^EY01148 or Hsp83^e6A mutant background also suppresses the phenotype. Coexpression of DnaJ-1^Scer\UAS.cKa weakly suppresses the phenotype. Coexpression of the Hsap\HSPA1L^Scer\UAS.cWa transgene results in efficient suppression of the wing posture phenotype of Scer\GAL4^Mhc.PW>Hsap\PABPN1^{17ala.Scer\UAS} flies. (Chartier et al., 2006)
Complementation & Rescue Data
Comments
Stocks ( 0 )

Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 1 )
Reported As
Symbol Synonym	Hsap\PABPN1^{17ala.Scer\UAS}
Name Synonym
Secondary FlyBase IDs

References ( 1 )
Research paper	Chartier et al., 2006, EMBO J. 25(10): 2253--2262 A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1. [FBrf0190356]

Allele Hsap\PABPN117ala.Scer\UAS

Allele Hsap\PABPN1^{17ala.Scer\UAS}