Pathophysiological roles of DUX4 in FSHD1 (WP5342)

Homo sapiens

DUX4 downstream signaling in 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. Normally, DUX4 is only expressed during embryogenesis, after which it is silenced. Abnormal activation of DUX4 after silencing results in the muscle disease known as facioscapulohumeral muscular dystrophy, or FSHD.


B.T.J. van Dijl , Egon Willighagen , Javier Millán Acosta , Kristina Hanspers , and Martina Summer-Kutmon


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Homo sapiens



Pathway Ontology

disease pathway regulatory pathway

Disease Ontology

facioscapulohumeral muscular dystrophy


Label Type Compact URI Comment
cAMP Metabolite chebi:17489
E2 Metabolite chebi:23965
MYOD1 GeneProduct ncbigene:4654
PGC1A GeneProduct ncbigene:10891
PAX7 GeneProduct ensembl:ENSG00000009709
ADRB2 GeneProduct ncbigene:154
H3.Y GeneProduct ensembl:ENSG00000269466
MYC GeneProduct ncbigene:4609
DUX4 GeneProduct ncbigene:100288687
CDKN1A GeneProduct ncbigene:1026
P300 GeneProduct ncbigene:2033
MYOG GeneProduct ncbigene:4656
ESR2 GeneProduct ncbigene:2100
MAFbx GeneProduct ncbigene:114907
MURF1 GeneProduct ncbigene:84676
UPF1 GeneProduct ncbigene:5976
RET GeneProduct ncbigene:5979
VEGFA GeneProduct ncbigene:7422
MYF5 GeneProduct ncbigene:4617
H3.X GeneProduct ensembl:ENSG00000268799


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