Reactome | DPPA2, DPPA4 and TP53 bind the DUX4 gene cluster

DPPA2, DPPA4 and TP53 bind the DUX4 gene cluster

Stable Identifier

R-HSA-9816389

Type

Reaction [binding]

Species

Homo sapiens

Compartment

nucleoplasm

ReviewStatus

5/5

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DPPA2, DPPA4 and TP53 bind the DUX4 gene cluster

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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 Grow, EJ, Weaver, BD, Smith, CM, Guo, J, Stein, P, Shadle, SC, Hendrickson, PG, Johnson, NE, Butterfield, RJ, Menafra, R, Kloet, SL, van der Maarel, SM, Williams, CJ, Cairns, BR	Nat Genet	2021