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.
Authors
B.T.J. van Dijl , Egon Willighagen , Javier Millán Acosta , Kristina Hanspers , Martina Summer-Kutmon , and Eric WeitzActivity
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
regulatory pathway disease pathwayDisease Ontology
facioscapulohumeral muscular dystrophyLabel | 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 |
References
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