From stem cell to red cell: regulation of erythropoiesis at multiple levels by multiple proteins, RNAs, and chromatin modifications, Blood, vol.118, pp.6258-6268, 2011. ,
Networking erythropoiesis, J. Exp. Med, vol.207, pp.2537-2541, 2010. ,
Insights into GATA-1-mediated gene activation versus repression via genome-wide chromatin occupancy analysis, Mol. Cell, vol.36, pp.682-695, 2009. ,
Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1, Proc. Natl. Acad. Sci. USA 93, pp.12355-12358, 1996. ,
Leukemogenesis caused by incapacitated GATA-1 function, Mol. Cell Biol, vol.24, pp.10814-10825, 2004. ,
Erythroleukemia-historical perspectives and recent advances in diagnosis and management, Blood Rev, vol.32, pp.96-105, 2018. ,
Genomic subtyping and therapeutic targeting of acute erythroleukemia, Nat. Genet, vol.51, pp.694-704, 2019. ,
Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators, EMBO J, vol.17, pp.3398-3412, 1998. ,
Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells, J. Biol. Chem, vol.276, pp.40417-40423, 2001. ,
Understanding the language of Lys36 methylation at histone H3, Nat. Rev. Mol. Cell Biol, vol.13, pp.115-126, 2012. ,
Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1, Chem. Biol, vol.21, pp.226-237, 2014. ,
Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing, Blood, vol.120, pp.83-92, 2012. ,
Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse, Blood, vol.126, pp.2491-2501, 2015. ,
Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas, Nat. Genet, vol.49, pp.180-185, 2017. ,
NSD1 inactivation and SETD2 mutation drive a convergence toward loss-of-function of H3K36 writers in clear-cell renal cell carcinomas, Cancer Res, vol.77, pp.4835-4845, 2017. ,
NSD1-and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis, Nat. Commun, vol.8, p.1772, 2017. ,
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma, Proc. Natl. Acad. Sci. USA, vol.106, pp.21830-21835, 2009. ,
Genome-wide CpG island methylation and intergenic demethylation propensities vary among different tumor sites, Nucleic Acids Res, vol.44, pp.1105-1117, 2016. ,
Haploinsufficiency of NSD1 causes Sotos syndrome, Nat. Genet, vol.30, pp.365-366, 2002. ,
, Orphanet J. Rare Dis, vol.2, p.36, 2007.
Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits, Nat. Commun, vol.9, p.2601, 2018. ,
NSD1 is essential for early post-implantation development and has a catalytically active SET domain, EMBO J, vol.22, pp.3153-3163, 2003. ,
Identification and analysis of mouse erythroid progenitors using the CD71/TER119 flow-cytometric assay, J. Visualized Exp, vol.54, p.2809, 2011. ,
Promoter elements of vav drive transgene expression in vivo throughout the hematopoietic compartment, Blood, vol.94, pp.1855-1863, 1999. ,
Ontogeny of erythroid gene expression, Blood, vol.121, pp.5-13, 2013. ,
Bethesda proposals for classification of nonlymphoid hematopoietic neoplasms in mice, Blood, vol.100, pp.238-245, 2002. ,
Immature erythroblasts with extensive ex vivo self-renewal capacity emerge from the early mammalian fetus, Blood, vol.117, pp.2708-2717, 2011. ,
GATA1 function, a paradigm for transcription factors in hematopoiesis, Mol. Cell Biol, vol.25, pp.1215-1227, 2005. ,
Global regulation of erythroid gene expression by transcription factor GATA-1, Blood, vol.104, pp.3136-3147, 2004. ,
NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis, Nat. Cell Biol, vol.9, pp.804-812, 2007. ,
An expansion phase precedes terminal erythroid differentiation of hematopoietic progenitor cells from cord blood in vitro and is associated with up-regulation of cyclin E and cyclin-dependent kinase 2, Blood, vol.96, pp.3985-3987, 2000. ,
Establishing a hematopoietic genetic network through locus-specific integration of chromatin regulators, Proc. Natl. Acad. Sci. USA, vol.110, pp.3398-3407, 2013. ,
Epigenetic determinants of erythropoiesis: role of the histone methyltransferase SetD8 in promoting erythroid cell maturation and survival, Mol. Cell Biol, vol.35, pp.2073-2087, 2015. ,
Histone methyltransferase Setd8 represses Gata2 expression and regulates erythroid maturation, Mol. Cell Biol, vol.35, pp.2059-2072, 2015. ,
ZFP36L2 is required for self-renewal of early burst-forming unit erythroid progenitors, Nature, vol.499, pp.92-96, 2013. ,
Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration, Genome Res, vol.21, pp.1659-1671, 2011. ,
Histones to the cytosol: exportin 7 is essential for normal terminal erythroid nuclear maturation, Blood, vol.124, pp.1931-1940, 2014. ,
Mitoferrin is essential for erythroid iron assimilation, Nature, vol.440, pp.96-100, 2006. ,
Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity, Exp. Hematol, vol.33, pp.1292-1298, 2005. ,
Identification of the dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family, Blood, vol.96, pp.2621-2627, 2000. ,
bFGF signaling and v-Myb cooperate in sustained growth of primitive erythroid progenitors, Oncogene, vol.21, pp.400-410, 2002. ,
GATA-1 forms distinct activating and repressive complexes in erythroid cells, EMBO J, vol.24, pp.2354-2366, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-00146853
Ski negatively regulates erythroid differentiation through its interaction with GATA1, Mol. Cell Biol, vol.24, pp.10118-10125, 2004. ,
Signal-dependent N-CoR requirement for repression by the Ski oncoprotein, J. Biol. Chem, vol.278, pp.24858-24864, 2003. ,
Establishment of erythroleukemic GAK14 cells and characterization of GATA1 N-terminal domain, Genes Cells, vol.18, pp.886-898, 2013. ,
Lessons from models of murine erythroleukemia to acute myeloid leukemia (AML): proof-of-principle of co-operativity in AML, Haematologica, vol.91, pp.1644-1652, 2006. ,
Spi-1/PU.1 transgenic mice develop multistep erythroleukemias, Mol. Cell Biol, vol.16, pp.2453-2463, 1996. ,
URL : https://hal.archives-ouvertes.fr/hal-02262466
Kit-activating mutations cooperate with Spi-1/PU.1 overexpression to promote tumorigenic progression during erythroleukemia in mice, Cancer cell, vol.8, pp.467-478, 2005. ,
Direct interaction of hematopoietic transcription factors PU.1 and GATA-1: functional antagonism in erythroid cells, Genes Development, vol.13, pp.1398-1411, 1999. ,
Reversal of tumorigenicity and the block to differentiation in erythroleukemia cells by GATA-1, Cancer Res, vol.63, pp.6363-6369, 2003. ,
Transcriptional cofactors Ski and SnoN are major regulators of the TGF-beta/Smad signaling pathway in health and disease, Signal Transduct. Target Ther, vol.3, p.15, 2018. ,
c-Ski in health and disease, Cell Tissue Res, vol.347, pp.51-64, 2012. ,
Inhibition of retinoic acid receptor signaling by Ski in acute myeloid leukemia, Leukemia, vol.20, pp.437-443, 2006. ,
MicroRNA29a regulates the expression of the nuclear oncogene Ski, Blood, vol.118, pp.1899-1902, 2011. ,
Combined cistrome and transcriptome analysis of SKI in AML cells identifies SKI as a co-repressor for RUNX1, Nucleic Acids Res, vol.46, pp.3412-3428, 2018. ,
SKI controls MDS-associated chronic TGF-beta signaling, aberrant splicing, and stem cell fitness, Blood, vol.132, pp.24-34, 2018. ,
Absolute quantification of transcription factors reveals principles of gene regulation in erythropoiesis, Mol Cell, 2020. ,
Inducible histone K-to-M mutations are dynamic tools to probe the physiological role of site-specific histone methylation in vitro and in vivo, Nat. Cell Biol, 2019. ,
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape, Nature, vol.573, pp.281-286, 2019. ,
A unique epigenomic landscape defines human erythropoiesis, Cell Rep, vol.28, pp.2996-3009, 2019. ,
Establishment and erythroid differentiation of a cytokinedependent human leukemic cell line F-36: a parental line requiring granulocyte-macrophage colony-stimulating factor or interleukin-3, and a subline requiring erythropoietin, Blood, vol.78, pp.2261-2268, 1991. ,
Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers, Blood, vol.003062, 2020. ,
VavCre transgenic mice: a tool for mutagenesis in hematopoietic and endothelial lineages, Genesis, vol.34, pp.251-256, 2002. ,
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method, Methods, vol.25, pp.402-408, 2001. ,
The PRIDE database and related tools and resources in 2019: improving support for quantification data, Nucleic Acids Res, vol.47, pp.442-450, 2019. ,
Hayman for reagents and/or other support of this study. We also appreciate the service of the flow-and animal experimentation facilities of the DBM & FMI, and we particularly thank Tianke Wang, Fred Zilbermann, Patrick Kopp, and Jean-Francois Spetz for the generation of the Nsd f/f mouse strain from the Nsd1 +/L3 allele. This work was supported by funding from the Swiss Cancer League (SKL): KFS-3487-08-2014 and KFS-4258-08-2017; the Swiss National Science Foundation (SNF, 31003_A_173224/1), the Gertrude Von Meissner Foundation Basel, the Novartis Biomedical Research Foundation, Basel, the San Salvatore Foundation, 2017. ,