Oncogenic Notch Promotes Long-Range Regulatory Interactions within Hyperconnected 3D Cliques

Mol Cell. 2019 Mar 21;73(6):1174-1190.e12. doi: 10.1016/j.molcel.2019.01.006. Epub 2019 Feb 7.

Abstract

Chromatin loops enable transcription-factor-bound distal enhancers to interact with their target promoters to regulate transcriptional programs. Although developmental transcription factors such as active forms of Notch can directly stimulate transcription by activating enhancers, the effect of their oncogenic subversion on the 3D organization of cancer genomes is largely undetermined. By mapping chromatin looping genome-wide in Notch-dependent triple-negative breast cancer and B cell lymphoma, we show that beyond the well-characterized role of Notch as an activator of distal enhancers, Notch regulates its direct target genes by instructing enhancer repositioning. Moreover, a large fraction of Notch-instructed regulatory loops form highly interacting enhancer and promoter spatial clusters termed "3D cliques." Loss- and gain-of-function experiments show that Notch preferentially targets hyperconnected 3D cliques that regulate the expression of crucial proto-oncogenes. Our observations suggest that oncogenic hijacking of developmental transcription factors can dysregulate transcription through widespread effects on the spatial organization of cancer genomes.

Keywords: Notch; breast cancer; gene regulation; genome organization; lymphoma; oncogenic signaling.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Binding Sites
  • Cell Lineage / genetics
  • Cell Proliferation / genetics
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Cell Transformation, Neoplastic / pathology
  • Chromatin / genetics*
  • Chromatin / metabolism
  • Chromatin Assembly and Disassembly
  • Cyclin D1 / genetics
  • Cyclin D1 / metabolism
  • Enhancer Elements, Genetic
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks
  • HEK293 Cells
  • Humans
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / metabolism
  • Lymphoma, B-Cell / pathology
  • Mutation
  • Nucleic Acid Conformation
  • Oncogenes*
  • Promoter Regions, Genetic
  • Protein Binding
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-myc / metabolism
  • Receptors, Notch / genetics*
  • Receptors, Notch / metabolism
  • Signal Transduction / genetics
  • Triple Negative Breast Neoplasms / genetics*
  • Triple Negative Breast Neoplasms / metabolism
  • Triple Negative Breast Neoplasms / pathology

Substances

  • CCND1 protein, human
  • Chromatin
  • MYC protein, human
  • Proto-Oncogene Proteins c-myc
  • Receptors, Notch
  • Cyclin D1