A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia

Nat Med. 2014 Oct;20(10):1130-7. doi: 10.1038/nm.3665. Epub 2014 Sep 7.

Abstract

Efforts to identify and annotate cancer driver genetic lesions have been focused primarily on the analysis of protein-coding genes; however, most genetic abnormalities found in human cancer are located in intergenic regions. Here we identify a new long range-acting MYC enhancer controlled by NOTCH1 that is targeted by recurrent chromosomal duplications in human T cell acute lymphoblastic leukemia (T-ALL). This highly conserved regulatory element, hereby named N-Me for NOTCH MYC enhancer, is located within a broad super-enhancer region +1.47 Mb from the MYC transcription initiating site, interacts with the MYC proximal promoter and induces orientation-independent MYC expression in reporter assays. Moreover, analysis of N-Me knockout mice demonstrates a selective and essential role of this regulatory element during thymocyte development and in NOTCH1-induced T-ALL. Together these results identify N-Me as a long-range oncogenic enhancer implicated directly in the pathogenesis of human leukemia and highlight the importance of the NOTCH1-MYC regulatory axis in T cell transformation and as a therapeutic target in T-ALL.

Publication types

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

MeSH terms

  • Animals
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic / genetics
  • Enhancer Elements, Genetic*
  • Female
  • Gene Amplification
  • Genes, myc*
  • Humans
  • Jurkat Cells
  • Lymphopoiesis / genetics
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Neoplastic Stem Cells / metabolism
  • Neoplastic Stem Cells / pathology
  • Oncogenes
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Receptor, Notch1 / genetics*
  • T-Lymphocytes / cytology
  • T-Lymphocytes / metabolism

Substances

  • NOTCH1 protein, human
  • Notch1 protein, mouse
  • Receptor, Notch1

Associated data

  • GEO/GSE57988
  • GEO/GSE58406