Pathophysiological roles of DUX4 in FSHD1 (Homo sapiens)

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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, apoptosis, and other processes contributing to facioscapulohumeral muscular dystrophy (FSHD). Low D4Z4 subunit methylation, which is caused either by low amount of D4Z4 subunits combined with a permissive 4q haplotype, or a mutation in genes involved with D4Z4 methylation, results in the expression of DUX4.

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Bibliography

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  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
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History

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CompareRevisionActionTimeUserComment
139906view08:16, 10 July 2025DdiglesMerged descriptions, showing information that was hidden before. Please revert this change if that was not intended.
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
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"