A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia

Nature. 2011 May 12;473(7346):230-3. doi: 10.1038/nature09999.

Abstract

Notch signalling is a central regulator of differentiation in a variety of organisms and tissue types. Its activity is controlled by the multi-subunit γ-secretase (γSE) complex. Although Notch signalling can play both oncogenic and tumour-suppressor roles in solid tumours, in the haematopoietic system it is exclusively oncogenic, notably in T-cell acute lymphoblastic leukaemia, a disease characterized by Notch1-activating mutations. Here we identify novel somatic-inactivating Notch pathway mutations in a fraction of patients with chronic myelomonocytic leukaemia (CMML). Inactivation of Notch signalling in mouse haematopoietic stem cells (HSCs) results in an aberrant accumulation of granulocyte/monocyte progenitors (GMPs), extramedullary haematopoieisis and the induction of CMML-like disease. Transcriptome analysis revealed that Notch signalling regulates an extensive myelomonocytic-specific gene signature, through the direct suppression of gene transcription by the Notch target Hes1. Our studies identify a novel role for Notch signalling during early haematopoietic stem cell differentiation and suggest that the Notch pathway can play both tumour-promoting and -suppressive roles within the same tissue.

Publication types

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

MeSH terms

  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Cell Differentiation
  • Cells, Cultured
  • Gene Expression Profiling
  • Gene Expression Regulation, Neoplastic*
  • Gene Silencing
  • Genes, Tumor Suppressor / physiology*
  • Granulocyte-Macrophage Progenitor Cells / cytology
  • Granulocyte-Macrophage Progenitor Cells / metabolism
  • Hematopoietic Stem Cells / cytology
  • Hematopoietic Stem Cells / metabolism
  • Homeodomain Proteins / metabolism
  • Humans
  • Leukemia, Myelomonocytic, Chronic / genetics*
  • Leukemia, Myelomonocytic, Chronic / pathology*
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • Receptors, Notch / deficiency
  • Receptors, Notch / genetics*
  • Receptors, Notch / metabolism*
  • Signal Transduction*
  • Transcription Factor HES-1
  • Tumor Cells, Cultured

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Hes1 protein, mouse
  • Homeodomain Proteins
  • Receptors, Notch
  • Transcription Factor HES-1

Associated data

  • GEO/GSE27794
  • GEO/GSE27799
  • GEO/GSE27811