FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: progressive supranuclear palsy 1
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General Information
Name
progressive supranuclear palsy 1
FlyBase ID
FBhh0000113
Disease Ontology Term
Parent Disease
Overview

Progressive supranuclear palsy 1 (PSNP1) is one of a number of inherited neurodegenerative disorders associated with aggregation of tau protein in the brain; PSNP1 exhibits autosomal dominant inheritance. Experiments done in flies using the human MAPT gene (microtubule-associated protein tau) and the orthologous Drosophila tau gene are described in the reports titled 'tauopathies, MAPT-related' (FBhh0000101) and 'frontotemporal dementia with parkinsonism 17' (FBhh0000111).

Many different UAS constructs of the Hsap\MAPT gene have been introduced into flies, including wild-type MAPT and genes carrying mutational lesions implicated in disease. Although some researchers categorize all pathologies associated with variants of MAPT as one disease spectrum, others indicate specific variants as implicated in progressive supranuclear palsy 1. Variant(s) implicated in this human disease tested (as transgenic human gene, MAPT): the variant forms R5L, P618L (P301L), and S669L (S352L) have been introduced into flies. The P618L (P301L) variant of MAPT is described as implicated in both frontotemporal dementia (FTDP-17) and progressive supranuclear palsy 1.

[updated Aug. 2019 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: progressive supranuclear palsy 1
OMIM report

[SUPRANUCLEAR PALSY, PROGRESSIVE, 1; PSNP1](https://omim.org/entry/601104)

Human gene(s) implicated

[MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT](https://omim.org/entry/157140)

Symptoms and phenotype

Symptoms of progressive supranuclear palsy 1 (PSNP1) resemble those of Parkinson disease (parkinsonism), include resting tremor, muscular rigidity, bradykinesia [abnormal slowness of movement], postural instability, and cognitve decline; supranuclear gaze palsy [inability to look in a particular direction] is also characteristic. [from MIM:601104; 2016.01.11]

Genetics

Heterozygous mutations in the MAPT gene have been implicated in PSNP1. [from MIM:601104; 2016.01.11]

Cellular phenotype and pathology

Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease; the tangles are primarily localized to subcortical regions and are found in both neurons and glia. [from MIM:601104; 2016.01.11]

Molecular information
External links
Disease synonyms
progressive supranuclear palsy
PSNP1
PSP
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to one: 3 human to 1 Drosophila. Three human genes, MAPT, MAP2 and MAP4, are orthologous to the fly gene Dmel\tau.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (0)
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (5 groups)
      protein-protein
      Interacting group
      Assay
      References
      affinity technology, western blot, anti tag coimmunoprecipitation, Identification by mass spectrometry, coimmunoprecipitation
      affinity technology, western blot, coimmunoprecipitation
      anti tag coimmunoprecipitation, western blot, Identification by mass spectrometry
      anti bait coimmunoprecipitation, anti tag western blot
      anti tag coimmunoprecipitation, Identification by mass spectrometry, western blot
      Alleles Reported to Model Human Disease (Disease Ontology) (122 alleles)
      Models Based on Experimental Evidence ( 120 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 45 )
      Allele
      Disease
      Interaction
      References
      model of  tauopathy
      is ameliorated by AMPKαUAS.cMa
      is ameliorated by Gcn5RNAi.UAS
      is exacerbated by MitfHMS00151
      is exacerbated by NUCB1KK107501
      model of  tauopathy
      is ameliorated by Atg1Δ3D
      is ameliorated by S6kUAS.cUa
      is ameliorated by arm1
      is ameliorated by sgg1
      is ameliorated by arm4
      is exacerbated by panUAS.cWa
      is ameliorated by Vap33Δ448
      is exacerbated by Psa06226
      is exacerbated by spinΔ2b
      is ameliorated by POLDIP2EY08866
      is ameliorated by AlkUAS.DN
      model of  tauopathy
      is ameliorated by Dcr-2UAS.cDa
      is ameliorated by Arc1JF01974
      is ameliorated by Arc1esm113
      is exacerbated by f+t13
      is ameliorated by Opa1s3475
      is exacerbated by WASpUAS.cBa
      is ameliorated by MarfJF01650
      is exacerbated by sqhAX3
      is exacerbated by MarfUAS.cDa
      is ameliorated by Drp1UAS.cDb
      is exacerbated by zip1
      is exacerbated by Drp1GD10456
      is exacerbated by LrrkUAS.cIa
      is exacerbated by Lrrke03680
      is exacerbated by Upf1GL01485
      is ameliorated by sbrHMS00273
      is exacerbated by Klc8ex94
      is exacerbated by Rab26GD9927
      is exacerbated by AmphEY09339
      is exacerbated by ClcDG23206
      is exacerbated by Chc1
      is exacerbated by Chc4
      is ameliorated by Rab26UAS.YFP
      is exacerbated by p535A-1-4
      is exacerbated by p5311-1B-1
      is exacerbated by AmphGD1311
      is exacerbated by SytβDG10711
      is exacerbated by SytβJF02593
      is exacerbated by LerpGD306
      is exacerbated by gGD7158
      is exacerbated by SppGD786
      is exacerbated by DabGD4886
      is exacerbated by krzGD8470
      is ameliorated by hepGD1461
      is exacerbated by ttvGD1993
      is ameliorated by TetGD9718
      is ameliorated by NmnatUAS.PD
      is ameliorated by NmnatWR.UAS.PD
      is exacerbated by slo1
      is ameliorated by BtndGD5654
      is ameliorated by BtndPL59
      is exacerbated by HcsUAS.cLa
      is exacerbated by SmvtHMJ30134
      is exacerbated by SmvtMB04530
      is exacerbated by LamGL00577
      is ameliorated by AmphGD1311
      is ameliorated by Kdm3HMJ22328
      is ameliorated by Kdm2KK101783
      is ameliorated by Kdm4AGD9133
      is ameliorated by Kdm4BKK102089
      is ameliorated by sbr1
      is ameliorated by rswlGD12447
      is ameliorated by scuGD1528
      is ameliorated by rad50EP1
      is exacerbated by Lkb1UAS.cWa
      is exacerbated by cathD1
      model of  tauopathy
      is ameliorated by FakCG1
      is ameliorated by FakKG00304
      is ameliorated by HDAC6KO
      is ameliorated by CalpB4062
      is ameliorated by twsUAS.cBa
      is exacerbated by hop2
      is ameliorated by CaMKIIGD9506
      is exacerbated by CaMKIIUAS.cKa
      is exacerbated by Klc8ex94
      is exacerbated by PiezoKO
      is exacerbated by amosTft
      is exacerbated by Thor2
      is exacerbated by Tlrv18
      is exacerbated by hry1
      is exacerbated by ena210
      is exacerbated by ensΔC
      is exacerbated by heph2
      is ameliorated by pbl3
      is exacerbated by sdtXN
      is exacerbated by shn3
      is ameliorated by AlkUAS.DN
      is ameliorated by MESR4EP386
      is ameliorated by gEP514
      is ameliorated by svrEP356
      is ameliorated by mubEP3108
      model of  tauopathy
      is ameliorated by HDAC6KO
      is exacerbated by Diap1SL
      is ameliorated by αTub84BK40Q
      is ameliorated by αTub84BK40R
      is ameliorated by MycJF01761
      is exacerbated by SmEGD13663
      is exacerbated by SmEHMS00074
      is exacerbated by snfJ210
      is exacerbated by SmD2GD7741
      is exacerbated by SmD2HMC03839
      is exacerbated by LarGD14391
      is exacerbated by bru1GD8699
      is exacerbated by dopGD11940
      is exacerbated by dopGL00220
      is exacerbated by dopJF02778
      is ameliorated by OxtG4946
      is ameliorated by scbEY02806
      is ameliorated by scbEY10270
      is exacerbated by scbJF02696
      is exacerbated by scbPB.UAS
      is ameliorated by Act5CG0010
      is exacerbated by Act5CUAS.GFP
      model of  tauopathy
      is ameliorated by CG5567GD11694
      is ameliorated by CG6154MI08916
      is ameliorated by Hydr2MI08405
      is ameliorated by CG7137GD12147
      is exacerbated by CG7896KK105990
      is ameliorated by ThgGD11217
      is ameliorated by CG8888EY12413
      is ameliorated by kek3GD1733
      is ameliorated by kek5MI01444
      is ameliorated by ContGD12610
      is exacerbated by Cox11KK100158
      is exacerbated by plxKK100306
      is ameliorated by Dgkεox-1
      is ameliorated by sroGD7469
      is exacerbated by E2f1KK100304
      is ameliorated by Smse00382
      is ameliorated by GlsHMC05223
      is ameliorated by PratHMS02669
      is ameliorated by ryHMS02827
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (7)