Cell-autonomous function of Runx1 transcriptionally regulates mouse megakaryocytic maturation

PLoS One. 2013 May 23;8(5):e64248. doi: 10.1371/journal.pone.0064248. Print 2013.

Abstract

RUNX1 transcription factor (TF) is a key regulator of megakaryocytic development and when mutated is associated with familial platelet disorder and predisposition to acute myeloid leukemia (FPD-AML). We used mice lacking Runx1 specifically in megakaryocytes (MK) to characterized Runx1-mediated transcriptional program during advanced stages of MK differentiation. Gene expression and chromatin-immunoprecipitation-sequencing (ChIP-seq) of Runx1 and p300 identified functional Runx1 bound MK enhancers. Runx1/p300 co-bound regions showed significant enrichment in genes important for MK and platelet homeostasis. Runx1 occupied genomic regions were highly enriched in RUNX and ETS motifs and to a lesser extent in GATA motif. Megakaryocytic specificity of Runx1/P300 bound enhancers was validated by transfection mutagenesis and Runx1/P300 co-bound regions of two key megakaryocytic genes Nfe2 and Selp were tested by in vivo transgenesis. The data provides the first example of genome wide Runx1/p300 occupancy in maturating primary FL-MK, unravel the Runx1-regulated program controlling MK maturation in vivo and identify a subset of its bona fide regulated genes. It advances our understanding of the molecular events that upon RUNX1mutations in human lead to the predisposition to familial platelet disorders and FPD-AML.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Binding Sites
  • Cell Differentiation
  • Cells, Cultured
  • Chromatin Immunoprecipitation
  • Core Binding Factor Alpha 2 Subunit / physiology*
  • Gene Expression Regulation*
  • Megakaryocytes / physiology*
  • Mice
  • Mice, Knockout
  • Primary Cell Culture
  • Promoter Regions, Genetic
  • Protein Binding
  • Sequence Analysis, DNA
  • Transcription, Genetic*
  • p300-CBP Transcription Factors / metabolism

Substances

  • Core Binding Factor Alpha 2 Subunit
  • Runx1 protein, mouse
  • p300-CBP Transcription Factors

Grants and funding

This study was supported by grants from Israel Science Foundation individual grants to YG and AT. URL: http://isf.org.il/. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.