FlyBase Allele Report: Hsap\PABPN1[17ala.UAS]

General Information

Symbol

Hsap\PABPN1^17ala.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0196235

Feature type

allele

Associated gene

Hsap\PABPN1

Associated Insertion(s)

Carried in Construct

P{UAS-PABPN1.17ala}

Also Known As

UAS-PABPN1-17ala

Key Links

Transgenic product class

short_tandem_repeat_expansion

(Chartier et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(Chartier et al., 2006)

Mutagen

in vitro construct

(Chartier et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-PABPN1.17ala}

Cytology

Description

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)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PABPN1

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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 ( 1 )

Disease

Evidence

References

model of oculopharyngeal muscular dystrophy

CEA

(Chartier et al., 2015, Barbezier et al., 2011, Chartier et al., 2009, Chartier et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of oculopharyngeal muscular dystrophy

is ameliorated by ERR^G4389

(Chartier et al., 2015)

is ameliorated by ewg^EY05137

(Chartier et al., 2015)

is ameliorated by twin^GS8115

(Chartier et al., 2015)

is ameliorated by Zzzz\VHH^{3F5.UAS.Tag:NLS(SV40-largeT)}

(Chartier et al., 2009)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Chartier et al., 2006)

PABPN1:p.Ala2[17]

(FlyBase curators, 2019-)

Variants Synonym(s)

PABPN1:p.Ala2[17Ala]

PABPN1, (GCG)n REPEAT EXPANSION

Associated human disease model(s)

oculopharyngeal muscular dystrophy

External database links

ClinVar: PABPN1 _503634

Comments concerning this variant

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., 2015, Chartier et al., 2006)

visible | progressive, with Scer\GAL4^Mhc.PU

(Barbezier et al., 2011)

Phenotype Manifest In

adult somatic muscle cell of thorax | progressive, with Scer\GAL4^Mhc.PU

(Barbezier et al., 2011)

dorsal longitudinal indirect flight muscle cell | progressive, with Scer\GAL4^Mhc.PU

(Barbezier et al., 2011)

embryonic/larval muscle system, 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)

indirect flight muscle cell, with Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

nucleus | progressive, with Scer\GAL4^Mhc.PU

(Barbezier et al., 2011)

wing, with Scer\GAL4^Mhc.PW

(Chartier et al., 2015, Chartier et al., 2006)

wing | progressive, with Scer\GAL4^Mhc.PU

(Barbezier et al., 2011)

Detailed Description

Statement

Reference

Expression of Hsap\PABPN1^{17ala.Scer\UAS} under the control of Scer\GAL4^Mhc.PU leads to age-progressive wing posture defects (wings up or down) and adult thoracic muscle degeneration with nuclear Hsap\PABPN1^{17ala.Scer\UAS} protein inclusions forming in the fibers.

(Barbezier et al., 2011)

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 genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by ewg^EY05137, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by ERR^G4389, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by twin[+]/twin^GS8115

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has visible | progressive phenotype, suppressible | partially by bb^N/Df(1)17-87

(Barbezier et al., 2011)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsc70-4^UAS.cEa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by BacA\p35^UAS.cHa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsp70Ab^EY01148, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsp83^e6A

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible | partially by DnaJ-1^UAS.cKa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, suppressible by Hsap\HSPA1L^UAS.cWa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

NOT suppressed by

Statement

Reference

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, non-suppressible by srl^EY05931, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has visible phenotype, non-suppressible by Ets97D^UAS.Tag:HA, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has visible | progressive phenotype, non-suppressible by bb[+]/bb^N

(Barbezier et al., 2011)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has visible | progressive phenotype, non-suppressible by Df(1)17-87/+

(Barbezier et al., 2011)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by ewg^EY05137, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by ERR^G4389, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by twin[+]/twin^GS8115

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has wing | progressive phenotype, suppressible | partially by bb^N/Df(1)17-87

(Barbezier et al., 2011)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsp83^e6A

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible | partially by DnaJ-1^UAS.cKa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsap\HSPA1L^UAS.cWa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsc70-4^UAS.cEa, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, suppressible by Hsp70Ab^EY01148, Scer\GAL4^Mhc.PW

(Chartier et al., 2006)

NOT suppressed by

Statement

Reference

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, non-suppressible by srl^EY05931, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PW has wing phenotype, non-suppressible by Ets97D^UAS.Tag:HA, Scer\GAL4^Mhc.PW

(Chartier et al., 2015)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has wing | progressive phenotype, non-suppressible by bb[+]/bb^N

(Barbezier et al., 2011)

Hsap\PABPN1^17ala.UAS, Scer\GAL4^Mhc.PU has wing | progressive phenotype, non-suppressible by Df(1)17-87/+

(Barbezier et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of srl^EY05931 does not suppress the wing posture defects seen when Hsap\PABPN1^{17ala.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW.

Expression of Ets97D^{Scer\UAS.T:Ivir\HA1} does not suppress the wing posture defects seen when Hsap\PABPN1^{17ala.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW.

Expression of ewg^EY05137 suppresses the wing posture defects seen when Hsap\PABPN1^{17ala.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW.

Expression of ERR^G4389 suppresses the wing posture defects seen when Hsap\PABPN1^{17ala.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW.

twin^GS8115 suppresses the wing posture defects seen when Hsap\PABPN1^{17ala.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW. The number of nuclei containing aggregates increases in the presence of twin^GS8115, although the cross-sectional area remains the same.

(Chartier et al., 2015)

The age progressive wing posture defects (wings up or down) characteristic for flies expressing Hsap\PABPN1^{17ala.Scer\UAS} under the control of Scer\GAL4^Mhc.PU is not suppressed by combination with either bb^N or Df(1)17-87 alone, but when combined with the two together, the frequency of the abnormal wing posture phenotype is significantly reduced.

(Barbezier et al., 2011)

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 and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

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

Hsap\PABPN1^17ala.UAS

Name Synonyms

Secondary FlyBase IDs

References (6)

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