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 journalArticlepeer-review


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 languageEnglish
Pages (from-to)665-7
Number of pages3
JournalNature Genetics
Issue number8
Publication statusPublished - Aug 2010
Externally publishedYes


  • 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


Dive into the research topics of 'Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes'. Together they form a unique fingerprint.

Cite this