PAX3-FOXO1 uses its activation domain to recruit CBP/P300 and shape RNA Pol2 cluster distribution

Nat Commun. 2023 Dec 15;14(1):8361. doi: 10.1038/s41467-023-43780-4.

Abstract

Activation of oncogenic gene expression from long-range enhancers is initiated by the assembly of DNA-binding transcription factors (TF), leading to recruitment of co-activators such as CBP/p300 to modify the local genomic context and facilitate RNA-Polymerase 2 (Pol2) binding. Yet, most TF-to-coactivator recruitment relationships remain unmapped. Here, studying the oncogenic fusion TF PAX3-FOXO1 (P3F) from alveolar rhabdomyosarcoma (aRMS), we show that a single cysteine in the activation domain (AD) of P3F is important for a small alpha helical coil that recruits CBP/p300 to chromatin. P3F driven transcription requires both this single cysteine and CBP/p300. Mutants of the cysteine reduce aRMS cell proliferation and induce cellular differentiation. Furthermore, we discover a profound dependence on CBP/p300 for clustering of Pol2 loops that connect P3F to its target genes. In the absence of CBP/p300, Pol2 long range enhancer loops collapse, Pol2 accumulates in CpG islands and fails to exit the gene body. These results reveal a potential novel axis for therapeutic interference with P3F in aRMS and clarify the molecular relationship of P3F and CBP/p300 in sustaining active Pol2 clusters essential for oncogenic transcription.

MeSH terms

  • Cysteine / metabolism
  • Forkhead Box Protein O1 / metabolism
  • Humans
  • PAX3 Transcription Factor / genetics
  • Protein Binding
  • RNA / metabolism
  • RNA Polymerase II* / genetics
  • RNA Polymerase II* / metabolism
  • Rhabdomyosarcoma, Alveolar* / genetics
  • Transcription Factors / metabolism
  • Transcriptional Activation

Substances

  • RNA Polymerase II
  • Cysteine
  • Transcription Factors
  • PAX3 Transcription Factor
  • RNA
  • FOXO1 protein, human
  • Forkhead Box Protein O1
  • PAX3 protein, human