Cited by 692Acute Myeloid Leukemia ResearchGenomics and Chromatin DynamicsChromatin Remodeling and Cancer

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A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia

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Gröschel, Stefan, Sanders, Mathijs A., Hoogenboezem, Remco, de Wit, Elzo, Bouwman, Britta A.M., Erpelinck, Claudia, van der Velden, Vincent H.J., Havermans, Marije, Avellino, Roberto, van Lom, Kirsten, Rombouts, Elwin J., van Duin, Mark, Döhner, Konstanze, Beverloo, H. Berna, Bradner, James E., Döhner, Hartmut, Löwenberg, Bob, Valk, Peter J.M., Bindels, Eric M.J., de Laat, Wouter, Delwel, Ruud·2014·Cell

DOI 10.1016/j.cell.2014.02.019

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Abstract

Chromosomal rearrangements without gene fusions have been implicated in leukemogenesis by causing deregulation of proto-oncogenes via relocation of cryptic regulatory DNA elements. AML with inv(3)/t(3;3) is associated with aberrant expression of the stem-cell regulator EVI1. Applying functional genomics and genome-engineering, we demonstrate that both 3q rearrangements reposition a distal GATA2 enhancer to ectopically activate EVI1 and simultaneously confer GATA2 functional haploinsufficiency, previously identified as the cause of sporadic familial AML/MDS and MonoMac/Emberger syndromes. Genomic excision of the ectopic enhancer restored EVI1 silencing and led to growth inhibition and differentiation of AML cells, which could be replicated by pharmacologic BET inhibition. Our data show that structural rearrangements involving the chromosomal repositioning of a single enhancer can cause deregulation of two unrelated distal genes, with cancer as the outcome.

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Self-citation
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Authors: Gröschel, S., Sanders, M. A., Hoogenboezem, R., de Wit, E., Bouwman, B. A. M., Erpelinck, C., van der Velden, V. H. J., Havermans, M., Avellino, R., van Lom, K., Rombouts, E. J., van Duin, M., Döhner, K., Beverloo, H. B., Bradner, J. E., Döhner, H., Löwenberg, B., Valk, P. J. M., Bindels, E. M. J., de Laat, W., & Delwel, R.
Affiliations: Erasmus MC (NL)
University Medical Center Utrecht (NL)
University Hospital Ulm (DE)
Harvard University (US)
Corresponding author: Delwel, Ruud
ORCID: Gröschel, Stefan
Sanders, Mathijs A.
Hoogenboezem, Remco
Bouwman, Britta A.M.
Havermans, Marije
Avellino, Roberto
Döhner, Konstanze
Beverloo, H. Berna
Bradner, James E.
Döhner, Hartmut
Löwenberg, Bob
Valk, Peter J.M.
Bindels, Eric M.J.
Delwel, Ruud
Venue: Cell
Publisher: Elsevier BV
Published: 2014-04
Volume: 157
Issue: 2
Pages: 369-381
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2014.02.019
OpenAlex: W1978902427
Cited by: 687
References: 51
Citations by year: 2026: 29 · 2025: 45 · 2024: 42 · 2023: 72 · 2022: 55 · 2021: 69 · 2020: 66 · 2019: 62 · 2018: 59 · 2017: 65 · 2016: 59 · 2015: 45 · 2014: 15
FWCI: 43.09
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 444 d)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Funders: Association for International Cancer Research
Deutsche Forschungsgemeinschaft (GR 3955/1-1)
Lady Tata Memorial Trust
European Hematology Association
Center for Translational Molecular Medicine (GR03O-102)
Topics: Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords: EVI1, GATA2, acute myeloid leukemia, haploinsufficiency, BET inhibition, leukemia cell differentiation, leukemogenesis
MeSH terms: MDS1 and EVI1 Complex Locus Protein, Chromosomes, Human, Pair 3, DNA-Binding Proteins, Enhancer Elements, Genetic, Humans, Chromosome Inversion, Myelodysplastic Syndromes, Promoter Regions, Genetic, Proto-Oncogenes, Transcription Factors, Translocation, Genetic, Leukemia, Myeloid, Acute, Transcriptional Activation, Gene Expression Regulation, Neoplastic, Cell Line, Tumor, GATA2 Transcription Factor

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A Single Oncogenic Enhancer Rearrangement Causes Concomitant EVI1 and GATA2 Deregulation in Leukemia

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