Pathophysiological roles of DUX4 in FSHD1 (Homo sapiens)

From WikiPathways

Revision as of 00:48, 26 July 2024 by Eweitz (Talk | contribs)
(diff) ←Older revision | Current revision (diff) | Newer revision→ (diff)
Jump to: navigation, search
15, 179PathwaysD4Z4 methylationProteinNucleuscAMPE2344314737, 1437Permissive 4q haplotype <10 D4Z4 subunitsDNAApoptosisp38 MAPK pathwayMYOD1PGC1ABMP pathwayPAX715ADRB2H3.YWnt signaling205, 19UnknownMYC18DUX4CDKN1A2P53 pathwayP300TNF-A pathway11JNK pathway19MyogenesisMYOG16ESR26, 8MAFbxMURF1Protein degradationUPF11, 10RETdsRNA accumulationNMD12Oxidative stress19AngiogenesisVEGFAMYF513InhibitionStimulationLegendTranscriptionCellular processH3.X20Cell


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.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Imamachi N, Tani H, Akimitsu N; ''Up-frameshift protein 1 (UPF1): multitalented entertainer in RNA decay.''; Drug Discov Ther, 2012 PubMed Europe PMC Scholia
  2. Xu, H., Wang, Z., Jin, S., Hao, H., Zheng, L., Zhou, B., Zhang, W., Lv, H., Yuan, Y.; ''Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression''; https://doi.org/10.1016/j.bbrc.2014.02.105, 2014 PubMed Europe PMC Scholia
  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
  14. Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A; ''The FSHD atrophic myotube phenotype is caused by DUX4 expression.''; PLoS One, 2011 PubMed Europe PMC Scholia
  15. Bosnakovski D, Toso EA, Hartweck LM, Magli A, Lee HA, Thompson ER, Dandapat A, Perlingeiro RCR, Kyba M; ''The DUX4 homeodomains mediate inhibition of myogenesis and are functionally exchangeable with the Pax7 homeodomain.''; J Cell Sci, 2017 PubMed Europe PMC Scholia
  16. Knopp P, Krom YD, Banerji CR, Panamarova M, Moyle LA, den Hamer B, van der Maarel SM, Zammit PS; ''DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.''; J Cell Sci, 2016 PubMed Europe PMC Scholia
  17. Bosnakovski, D., Gearhart, M.D., Toso, E.A.; ''Low level DUX4 expression disrupts myogenesis through deregulation of myogenic gene expression''; Nature, 2018
  18. 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
  19. Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, Zammit PS; ''β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.''; J R Soc Interface, 2015 PubMed Europe PMC Scholia
  20. Resnick, R, Wong, C.J., Hamm, D.C., Bennett, S.R., Skene, P.J., Hake, S.B., Henikoff, S.J.; ''DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression''; https://pubmed.ncbi.nlm.nih.gov/31722199/, 2019 PubMed Europe PMC Scholia

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

View all...
NameTypeDatabase referenceComment
ADRB2GeneProduct154 (Entrez Gene)
BMP pathwayPathwayWP211 (WikiPathways)
CDKN1AGeneProduct1026 (Entrez Gene)
DUX4GeneProduct100288687 (Entrez Gene)
E2MetaboliteCHEBI:23965 (ChEBI)
ESR2GeneProduct2100 (Entrez Gene)
H3.XGeneProductENSG00000268799 (Ensembl)
H3.YGeneProductENSG00000269466 (Ensembl)
JNK pathwayPathwayWP1047 (WikiPathways)
MAFbxGeneProduct114907 (Entrez Gene)
MURF1GeneProduct84676 (Entrez Gene)
MYCGeneProduct4609 (Entrez Gene)
MYF5GeneProduct4617 (Entrez Gene)
MYOD1GeneProduct4654 (Entrez Gene)
MYOGGeneProduct4656 (Entrez Gene)
P300GeneProduct2033 (Entrez Gene)
P53 pathwayPathwayWP2902 (WikiPathways)
PAX7GeneProductENSG00000009709 (Ensembl)
PGC1AGeneProduct10891 (Entrez Gene)
RETGeneProduct5979 (Entrez Gene)
TNF-A pathwayPathwayWP1047 (WikiPathways)
UPF1GeneProduct5976 (Entrez Gene)
Unknown
VEGFAGeneProduct7422 (Entrez Gene)
Wnt signalingPathwayWP428 (WikiPathways)
cAMPMetaboliteCHEBI:17489 (ChEBI)
p38 MAPK pathwayPathwayWP400 (WikiPathways)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5342"
Personal tools