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

Nat Genet. 2010 Aug;42(8):665-7. doi: 10.1038/ng.620. Epub 2010 Jul 4.

Authors

Gorica Nikoloski¹, 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

Affiliation

¹ Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands.

PMID: 20601954
DOI: 10.1038/ng.620

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

DNA-Binding Proteins
Transcription Factors
Histone Methyltransferases
EZH2 protein, human
Enhancer of Zeste Homolog 2 Protein
Histone-Lysine N-Methyltransferase
Polycomb Repressive Complex 2