TY - JOUR
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
Y1 - 2010/8
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 -