Pathophysiological roles of DUX4 in FSHD1 (Homo sapiens)

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614, 167207, 1120722021120ApoptosisDNANUCLEUSCELLWnt signalingD4Z4 MethylationDUX4Unknownβ2-ARPAX7MYCH3.X/YcAMPPGC1-αp38 MAPK pathwayBMP pathwayMyoD<10 D4Z4 subunits9, 1513Permissive 4q Haplotype114CDKN1A19P53 Pathwayp3005TNF-α Pathway9JNK PathwayMyogenesis4MyoGERβ8, 18E2MAFbxMURF-1Protein DegradationUPF1RTK10, 12dsRNA accumulation3NMDOxidative stress9AngiogenesisVEGFMYF517PathwaysProteinInhibitionStimulationLegendTranscriptionCellular process


Description

The transcription factor DUX4 is normally expressed during the 4-cell stage, activating various pathways leading to cleavage. This pathway shows how the abberrant expression of DUX4 in post-embryonic stages leads to several disturbations in skeletal muscle fibers, leading to adverse outcomes such as inflammation and apoptosis.

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Bibliography

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  3. Teresa Schätzl, Lars Kaiser, Hans-Peter Deigner; ''Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update''; , 2021 PubMed Europe PMC Scholia
  4. Zoltan Arany, Shi-Yin Foo, Yanhong Ma, Jorge L Ruas, Archana Bommi-Reddy, Geoffrey Girnun, Marcus Cooper, Dina Laznik, Jessica Chinsomboon, Shamina M Rangwala, Kwan Hyuck Baek, Anthony Rosenzweig, Bruce M Spiegelman; ''HIF-independent regulation of VEGF and angiogenesis by the transcriptional coactivator PGC-1alpha''; , 2008 PubMed Europe PMC Scholia
  5. Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG; ''Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.''; Hum Mol Genet, 2013 PubMed Europe PMC Scholia
  6. Mul K, Horlings CGC, Voermans NC, Schreuder THA, van Engelen BGM; ''Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy.''; Neuromuscul Disord, 2018 PubMed Europe PMC Scholia
  7. Kenji Rowel Q. Lim, Quynh Nguyen, Toshifumi Yokota; ''DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy''; , 2020 PubMed Europe PMC Scholia
  8. Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F; ''Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.''; J Clin Invest, 2017 PubMed Europe PMC Scholia
  9. Lagirand-Cantaloube J, Cornille K, Csibi A, Batonnet-Pichon S, Leibovitch MP, Leibovitch SA; ''Inhibition of atrogin-1/MAFbx mediated MyoD proteolysis prevents skeletal muscle atrophy in vivo.''; PLoS One, 2009 PubMed Europe PMC Scholia
  10. Fiorini F, Bagchi D, Le Hir H, Croquette V; ''Human Upf1 is a highly processive RNA helicase and translocase with RNP remodelling activities.''; Nat Commun, 2015 PubMed Europe PMC Scholia
  11. Oliva, J., Galasinski, S., Richey, A., Campbell, AE., Meyers, M. J., Modi, N., Zhong, J. W., Tawil, R., Tapscott, S. J., Sverdrup, F. M; ''Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy''; 10.1124/jpet.119.259663, 2019 PubMed Europe PMC Scholia
  12. Shadle, S.C., Zhong, J.W., Campbell, A.E., Conerly, M.L., Jagannathan, S.; ''DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy''; PLOS Genetics, 2017
  13. Bosnakovski, D., Gearhart, M.D., Toso, E.A.; ''Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression.''; Sci Rep, 2018
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History

View all...
CompareRevisionActionTimeUserComment
134693view00:48, 26 July 2024EweitzRefine 10+ interactions to avoid overcomplicated anchors
134692view00:37, 26 July 2024EweitzEconomize layout
134691view00:32, 26 July 2024EweitzEconomize layout, enlarge nodes with truncated text
134690view00:28, 26 July 2024EweitzEconomize layout
134689view00:25, 26 July 2024EweitzRefine legend, economize layout
134688view00:22, 26 July 2024EweitzRefine labels, economize layout, standardize case
129366view09:41, 27 March 2024MkutmonOntology Term : 'disease pathway' added !
129365view09:40, 27 March 2024MkutmonOntology Term : 'regulatory pathway' added !
126930view06:28, 7 July 2023BTJvanDijlFixed annotations and connections
126929view06:23, 7 July 2023BTJvanDijlAdded H3.X and H3.Y as individual data nodes + annotation. Removed unclear ESR2 additions.
126927view16:44, 6 July 2023EgonwMade a few pathways clickable
126858view01:49, 28 June 2023Khanspersconnected interaction
126856view00:10, 28 June 2023Khanspersupdated legend to graphical objects, updated labels, removed extraneous object
125910view16:37, 17 March 2023JmillanacostaOntology Term : 'facioscapulohumeral muscular dystrophy' added !
125861view20:15, 13 March 2023BTJvanDijlExpression Data Added
125834view07:11, 13 March 2023EgonwBetter Ensembl data source
125749view10:12, 9 March 2023BTJvanDijlAdded Legend
125741view21:26, 8 March 2023BTJvanDijlNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
<10 D4Z4 subunits
BMP pathwayPathwayWP211 (WikiPathways)
CDKN1AGeneProductENSG00000124762 (Ensembl Human)
CELL
D4Z4 Methylation
DUX4 GeneProductENSG00000260596 (Ensembl Human)
E2
ERβGeneProductENSG00000140009 (Ensembl Human)
H3.X/YGeneProductENSG00000268799 (Ensembl Human)
JNK PathwayPathwayWP1047 (WikiPathways)
MAFbxGeneProductENSG00000156804 (Ensembl Human)
MURF-1GeneProductENSG00000158022 (Ensembl Human)
MYCGeneProductENSG00000136997 (Ensembl Human)
MYF5GeneProductENSG00000111049 (Ensembl Human)
MyoDGeneProduct
MyoGGeneProductENSG00000122180 (Ensembl Human)
NUCLEUS
P53 PathwayPathwayWP2902 (WikiPathways)
PAX7GeneProductENSG00000009709 (Ensembl Human)
PGC1-αProteinENSG00000109819 (Ensembl Human)
PathwaysPathway
Permissive 4q Haplotype
ProteinProtein
RTKGeneProductENSG00000165731 (Ensembl Human)
TNF-α PathwayPathwayWP1047 (WikiPathways)
UPF1GeneProductENSG00000005007 (Ensembl Human)
Unknown
VEGFGeneProductENSG00000005007 (Ensembl Human)
Wnt signalingPathwayWP428 (WikiPathways)
cAMP
p300GeneProductENSG00000100393 (Ensembl Human)
p38 MAPK pathway PathwayWP400 (WikiPathways)
β2-ARGeneProductADRB2 (HGNC)

Annotated Interactions

No annotated interactions

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