Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Gorica Nikoloski; Saskia M C Langemeijer; Roland P Kuiper; Ruth Knops; Marion Massop; Evelyn R L T M Tönnissen; Adrian van der Heijden; Theresia N Scheele; Peter Vandenberghe; Theo de Witte; Bert A van der Reijden; Joop H Jansen

doi:10.1038/ng.620

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Gorica Nikoloski
, Saskia M C Langemeijer
, Roland P Kuiper
, Ruth Knops
, Marion Massop
, Evelyn R L T M Tönnissen
, Adrian van der Heijden
, Theresia N Scheele
, Peter Vandenberghe
, Theo de Witte
, Bert A van der Reijden
, Joop H Jansen

Research output: Contribution to journal › Article › peer-review

689 Citations (Scopus)

Abstract

In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.

Original language	English
Pages (from-to)	665-7
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	8
DOIs	https://doi.org/10.1038/ng.620
Publication status	Published - Aug 2010
Externally published	Yes

Keywords

DNA-Binding Proteins
Enhancer of Zeste Homolog 2 Protein
Genes, Tumor Suppressor
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
Humans
Mutation
Myelodysplastic Syndromes/genetics
Polycomb Repressive Complex 2
Transcription Factors

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10.1038/ng.620

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Nikoloski, G., Langemeijer, S. M. C., Kuiper, R. P., Knops, R., Massop, M., Tönnissen, E. R. L. T. M., van der Heijden, A., Scheele, T. N., Vandenberghe, P., de Witte, T., van der Reijden, B. A., & Jansen, J. H. (2010). Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nature Genetics, 42(8), 665-7. https://doi.org/10.1038/ng.620

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title = "Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes",

abstract = "In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.",

keywords = "DNA-Binding Proteins, Enhancer of Zeste Homolog 2 Protein, Genes, Tumor Suppressor, Histone Methyltransferases, Histone-Lysine N-Methyltransferase, Humans, Mutation, Myelodysplastic Syndromes/genetics, Polycomb Repressive Complex 2, Transcription Factors",

author = "Gorica Nikoloski and Langemeijer, \{Saskia M C\} and Kuiper, \{Roland P\} and Ruth Knops and Marion Massop and T{\"o}nnissen, \{Evelyn R L T M\} and \{van der Heijden\}, Adrian and Scheele, \{Theresia N\} and Peter Vandenberghe and \{de Witte\}, Theo and \{van der Reijden\}, \{Bert A\} and Jansen, \{Joop H\}",

year = "2010",

month = aug,

doi = "10.1038/ng.620",

language = "English",

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T1 - Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

AU - Nikoloski, Gorica

AU - Langemeijer, Saskia M C

AU - Kuiper, Roland P

AU - Knops, Ruth

AU - Massop, Marion

AU - Tönnissen, Evelyn R L T M

AU - van der Heijden, Adrian

AU - Scheele, Theresia N

AU - Vandenberghe, Peter

AU - de Witte, Theo

AU - van der Reijden, Bert A

AU - Jansen, Joop H

PY - 2010/8

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N2 - In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.

AB - In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.

KW - DNA-Binding Proteins

KW - Enhancer of Zeste Homolog 2 Protein

KW - Genes, Tumor Suppressor

KW - Histone Methyltransferases

KW - Histone-Lysine N-Methyltransferase

KW - Humans

KW - Mutation

KW - Myelodysplastic Syndromes/genetics

KW - Polycomb Repressive Complex 2

KW - Transcription Factors

UR - https://www.scopus.com/pages/publications/77955087290

U2 - 10.1038/ng.620

DO - 10.1038/ng.620

M3 - Article

C2 - 20601954

SN - 1061-4036

VL - 42

SP - 665

EP - 667

JO - Nature Genetics

JF - Nature Genetics

IS - 8

ER -

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

Abstract

Keywords

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