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.

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