Cited by 1,139Acute Myeloid Leukemia ResearchEpigenetics and DNA MethylationChromatin Remodeling and Cancer

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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

Ernst, Thomas, Chase, Andrew J, Score, Joannah, Hidalgo-Curtis, Claire E, Bryant, Catherine, Jones, Amy V, Waghorn, Katherine, Zoi, Katerina, Ross, Fiona M, Reiter, Andreas, Hochhaus, Andreas, Drexler, Hans G, Duncombe, Andrew, Cervantes, Francisco, Oscier, David, Boultwood, Jacqueline, Grand, Francis H, Cross, Nicholas C P·2010·Nature Genetics

DOI 10.1038/ng.621

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Abstract

Abnormalities of chromosome 7q are common in myeloid malignancies, but no specific target genes have yet been identified. Here, we describe the finding of homozygous EZH2 mutations in 9 of 12 individuals with 7q acquired uniparental disomy. Screening of a total of 614 individuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals; the mutations were found most commonly in those with myelodysplastic/myeloproliferative neoplasms (27 out of 219 individuals, or 12%) and in those with myelofibrosis (4 out of 30 individuals, or 13%). EZH2 encodes the catalytic subunit of the polycomb repressive complex 2 (PRC2), a highly conserved histone H3 lysine 27 (H3K27) methyltransferase that influences stem cell renewal by epigenetic repression of genes involved in cell fate decisions. EZH2 has oncogenic activity, and its overexpression has previously been causally linked to differentiation blocks in epithelial tumors. Notably, the mutations we identified resulted in premature chain termination or direct abrogation of histone methyltransferase activity, suggesting that EZH2 acts as a tumor suppressor for myeloid malignancies.

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Authors: Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., Hochhaus, A., Drexler, H. G., Duncombe, A., Cervantes, F., Oscier, D., Boultwood, J., Grand, F. H., & Cross, N. C. P.
Affiliations: University of Southampton (GB)
Wessex Regional Genetics Laboratory (GB)
Academy of Athens (GR)
Heidelberg University (DE)
Jena University Hospital (DE)
Leibniz Institute DSMZ – German Collection of Microorganisms and Cell Cultures (DE)
Southampton General Hospital (GB)
Hospital Clínic de Barcelona (ES)
Royal Bournemouth Hospital (GB)
John Radcliffe Hospital (GB)
Corresponding author: Cross, Nicholas C P
ORCID: Ernst, Thomas
Chase, Andrew J
Jones, Amy V
Reiter, Andreas
Hochhaus, Andreas
Drexler, Hans G
Duncombe, Andrew
Cervantes, Francisco
Oscier, David
Boultwood, Jacqueline
Cross, Nicholas C P
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-07-04
Volume: 42
Issue: 8
Pages: 722-726
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.621
OpenAlex: W1963736125
Cited by: 1,139
References: 40
Citations by year: 2026: 12 · 2025: 32 · 2024: 25 · 2023: 42 · 2022: 33 · 2021: 64 · 2020: 61 · 2019: 52 · 2018: 55 · 2017: 71 · 2016: 113 · 2015: 94 · 2014: 91 · 2013: 132 · 2012: 132
FWCI: 79.07
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Topics: Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords: EZH2, histone methyltransferase, somatic mutations, myeloid disorders, myelodysplastic/myeloproliferative neoplasms, myelofibrosis, chromosome 7q, uniparental disomy, polycomb repressive complex 2, H3K27 methylation, tumor suppressor, epigenetic repression
MeSH terms: Enhancer of Zeste Homolog 2 Protein, Histone Methyltransferases, Cell Differentiation, DNA-Binding Proteins, Female, Genes, Regulator, Histones, Humans, Lysine, Male, Histone-Lysine N-Methyltransferase, Proteins, Transcription Factors, Genes, Tumor Suppressor, Polycomb Repressive Complex 2

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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

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