DPPA2, DPPA4 and TP53 bind the DUX4 gene cluster

Stable Identifier
R-HSA-9816389
Type
Reaction [binding]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
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Activated TP53 (phosphoSer15-TP53) binds a LTR10C repeat about 18 kb from the DUX4 locus between DUX4 and the telomere of chromosome 4q (Grow et al. 2021). DPPA2 and DPPA4 also bind the promoter of the DUX4 gene (inferred from mouse homologs). DUX4 is an intronless and presumably retroposed gene located in a 3.3 kb macrosatellite that is present as 11-150 repeats in the D4Z4 region of chromosome 4 (Hewitt et al. 1994).
Literature References
PubMed ID Title Journal Year
34267371 p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models

Guo, J, Cairns, BR, Menafra, R, Stein, P, Hendrickson, PG, Grow, EJ, Johnson, NE, Smith, CM, Shadle, SC, van der Maarel, SM, Butterfield, RJ, Weaver, BD, Williams, CJ, Kloet, SL

Nat Genet 2021
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