Wallner et al. Epigenetics & Chromatin (2016) 9:33
DOI 10.1186/s13072-016-0079-z
RESEARCH
Epigenetic dynamics of monocyte-
to-macrophage diferentiation
Stefan Wallner
1
, Christopher Schröder
2
, Elsa Leitão
3
, Tea Berulava
3
, Claudia Haak
3
, Daniela Beißer
2
,
Sven Rahmann
2
, Andreas S. Richter
4
, Thomas Manke
4
, Ulrike Bönisch
4
, Laura Arrigoni
4
, Sebastian Fröhler
5
,
Filippos Klironomos
5
, Wei Chen
5
, Nikolaus Rajewsky
5
, Fabian Müller
6
, Peter Ebert
6
, Thomas Lengauer
6
,
Matthias Barann
7
, Philip Rosenstiel
7
, Gilles Gasparoni
8
, Karl Nordström
8
, Jörn Walter
8
, Benedikt Brors
9
,
Gideon Zipprich
9
, Bärbel Felder
9
, Ludger Klein-Hitpass
10
, Corinna Attenberger
11
, Gerd Schmitz
1
and Bernhard Horsthemke
3*
Abstract
Background: Monocyte-to-macrophage differentiation involves major biochemical and structural changes. In order
to elucidate the role of gene regulatory changes during this process, we used high-throughput sequencing to analyze
the complete transcriptome and epigenome of human monocytes that were differentiated in vitro by addition of
colony-stimulating factor 1 in serum-free medium.
Results: Numerous mRNAs and miRNAs were significantly up- or down-regulated. More than 100 discrete DNA
regions, most often far away from transcription start sites, were rapidly demethylated by the ten eleven translocation
enzymes, became nucleosome-free and gained histone marks indicative of active enhancers. These regions were
unique for macrophages and associated with genes involved in the regulation of the actin cytoskeleton, phagocytosis
and innate immune response.
Conclusions: In summary, we have discovered a phagocytic gene network that is repressed by DNA methylation in
monocytes and rapidly de-repressed after the onset of macrophage differentiation.
Keywords: Monocyte, Macrophage, Epigenetics, Methylation, Enhancer, Next-generation sequencing, Ten eleven
translocation methylcytosine dioxygenase, TET, DEEP, IHEC
© 2016 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License
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Background
Te diferentiation of monocytes to macrophages is
dependent on macrophage colony-stimulating fac-
tor (CSF1/MCSF) and modulated by infammatory
stimuli such as LPS, γ-IFN or TNFα. CSF1 promotes a
resident-type macrophage phenotype with a role in tis-
sue repair [1]. CSF1 binds to the extracellular domain
of the CSF1 receptor (CSF1R) with downstream signal-
ing via PI3K and MEK, to modulate diferentiation and
survival. Although much progress has been made in the
understanding of macrophage activation, polarization
and function, the underlying processes are still not fully
understood.
A large transcriptomic data set of phagocyte diferen-
tiation and activation [1], among numerous other cells
and tissues, has recently been released by the FANTOM
consortium [2, 3]. All phagocytes express a small num-
ber of lineage-specifc transcription factors (TFs) and
an array of known lineage-specifc genes [4]. Transcrip-
tional changes are mainly mediated by the selection and
establishment of enhancers (for review, see [5]). Based on
mouse studies, it has been proposed that PU.1 and serum
response factor (SRF) regulate cytoskeletal gene expres-
sion in macrophages [6]. Furthermore, miRNA signatures
were identifed in polarized macrophages that are difer-
entially regulated during monocyte-to-macrophage dif-
ferentiation and polarization [7].
Open Access
Epigenetics & Chromatin
*Correspondence: bernhard.horsthemke@uni-due.de
3
Institute of Human Genetics, University Hospital Essen, University
Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Germany
Full list of author information is available at the end of the article