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.
authors.affiliation: Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Gorica
authors.initials: G
authors.lastname: Nikoloski
authors.forename: Saskia M C
authors.initials: SM
authors.lastname: Langemeijer
authors.forename: Roland P
authors.initials: RP
authors.lastname: Kuiper
authors.forename: Ruth
authors.initials: R
authors.lastname: Knops
authors.forename: Marion
authors.initials: M
authors.lastname: Massop
authors.forename: Evelyn R L T M
authors.initials: ER
authors.lastname: Tönnissen
authors.forename: Adrian
authors.initials: A
authors.lastname: van der Heijden
authors.forename: Theresia N
authors.initials: TN
authors.lastname: Scheele
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.forename: Theo
authors.initials: T
authors.lastname: de Witte
authors.forename: Bert A
authors.initials: BA
authors.lastname: van der Reijden
authors.forename: Joop H
authors.initials: JH
authors.lastname: Jansen
mesh_terms: D004268:DNA-Binding Proteins; D000071221:Enhancer of Zeste Homolog 2 Protein; D016147:Genes, Tumor Suppressor; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D063151:Polycomb Repressive Complex 2; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D000076983:Histone Methyltransferases; C498409:EZH2 protein, human; D000071221:Enhancer of Zeste Homolog 2 Protein; D011495:Histone-Lysine N-Methyltransferase; D063151:Polycomb Repressive Complex 2