Dosage-dependent copy number gains in E2f1 and E2f3 drive hepatocellular carcinoma

J Clin Invest. 2017 Mar 1;127(3):830-842. doi: 10.1172/JCI87583. Epub 2017 Jan 30.

Abstract

Disruption of the retinoblastoma (RB) tumor suppressor pathway, either through genetic mutation of upstream regulatory components or mutation of RB1 itself, is believed to be a required event in cancer. However, genetic alterations in the RB-regulated E2F family of transcription factors are infrequent, casting doubt on a direct role for E2Fs in driving cancer. In this work, a mutation analysis of human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular carcinoma (HCC). Using a series of loss- and gain-of-function alleles to dial E2F transcriptional output, we have shown that copy number gains in E2f1 or E2f3b resulted in dosage-dependent spontaneous HCC in mice without the involvement of additional organs. Conversely, germ-line loss of E2f1 or E2f3b, but not E2f3a, protected mice against HCC. Combinatorial mapping of chromatin occupancy and transcriptome profiling identified an E2F1- and E2F3B-driven transcriptional program that was associated with development and progression of HCC. These findings demonstrate a direct and cell-autonomous role for E2F activators in human cancer.

MeSH terms

  • Animals
  • Carcinoma, Hepatocellular* / genetics
  • Carcinoma, Hepatocellular* / metabolism
  • E2F1 Transcription Factor* / genetics
  • E2F1 Transcription Factor* / metabolism
  • E2F3 Transcription Factor* / genetics
  • E2F3 Transcription Factor* / metabolism
  • Gene Dosage*
  • Genes, Neoplasm*
  • Humans
  • Liver Neoplasms* / genetics
  • Liver Neoplasms* / metabolism
  • Mice
  • Mice, Knockout
  • Neoplasm Proteins* / genetics
  • Neoplasm Proteins* / metabolism

Substances

  • E2F1 Transcription Factor
  • E2F3 Transcription Factor
  • E2f1 protein, mouse
  • E2f3 protein, mouse
  • Neoplasm Proteins