Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

被引：593

作者：

Nikoloski, Gorica ^{[1
,2
]}

Langemeijer, Saskia M. C. ^{[1
,2
]}

Kuiper, Roland P. ^{[2
,3
]}

Knops, Ruth ^{[1
,2
]}

Massop, Marion ^{[1
,2
]}

Tonnissen, Evelyn R. L. T. M. ^{[1
,2
]}

van der Heijden, Adrian ^{[1
,2
]}

Scheele, Theresia N. ^{[1
,2
]}

Vandenberghe, Peter ^{[4
]}

de Witte, Theo ^{[2
,5
]}

van der Reijden, Bert A. ^{[1
,2
]}

Jansen, Joop H. ^{[1
,2
]}

机构：

[1] Radboud Univ Nijmegen, Hematol Lab, Dept Lab Med, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[2] Nijmegen Ctr Mol Life Sci, Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[4] Katholieke Univ Leuven Hosp, Lab Genet Malignant Disorders, Ctr Human Genet, Louvain, Belgium

[5] Radboud Univ Nijmegen, Dept Tumorimmunol, Med Ctr, NL-6525 ED Nijmegen, Netherlands

来源：

NATURE GENETICS | 2010年 / 42卷 / 08期

关键词：

TUMOR-SUPPRESSOR ACTIVITY; ENHANCER; COMPLEX; TET2;

D O I：

10.1038/ng.620

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：665 / 667

页数：3

共 14 条

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