Integrating Enhancer Mechanisms to Establish a Hierarchical Blood Development Program

Cell Rep. 2017 Sep 19;20(12):2966-2979. doi: 10.1016/j.celrep.2017.08.090.

Abstract

Hematopoietic development requires the transcription factor GATA-2, and GATA-2 mutations cause diverse pathologies, including leukemia. GATA-2-regulated enhancers increase Gata2 expression in hematopoietic stem/progenitor cells and control hematopoiesis. The +9.5-kb enhancer activates transcription in endothelium and hematopoietic stem cells (HSCs), and its deletion abrogates HSC generation. The -77-kb enhancer activates transcription in myeloid progenitors, and its deletion impairs differentiation. Since +9.5-/- embryos are HSC deficient, it was unclear whether the +9.5 functions in progenitors or if GATA-2 expression in progenitors solely requires -77. We further dissected the mechanisms using -77;+9.5 compound heterozygous (CH) mice. The embryonic lethal CH mutation depleted megakaryocyte-erythrocyte progenitors (MEPs). While the +9.5 suffices for HSC generation, the -77 and +9.5 must reside on one allele to induce MEPs. The -77 generated burst-forming unit-erythroid through the induction of GATA-1 and other GATA-2 targets. The enhancer circuits controlled signaling pathways that orchestrate a GATA factor-dependent blood development program.

Keywords: GATA-2; enhancer; erythroid; hematopoiesis; mouse model; myeloid; progenitor.

MeSH terms

  • Animals
  • Blood Cells / metabolism*
  • Cell Differentiation / genetics
  • Embryo, Mammalian / metabolism
  • Enhancer Elements, Genetic*
  • Epistasis, Genetic
  • Erythroid Cells / cytology
  • Erythroid Cells / metabolism
  • Fetus / metabolism
  • GATA2 Transcription Factor / genetics
  • Hematopoiesis / genetics*
  • Liver / embryology
  • Liver / metabolism
  • Megakaryocytes / cytology
  • Megakaryocytes / metabolism
  • Mice
  • Signal Transduction
  • Transcriptome / genetics

Substances

  • GATA2 Transcription Factor