上海交通大学学报（医学版）

上海交通大学学报（医学版） ›› 2017, Vol. 37 ›› Issue (9): 1276-.doi: 10.3969/j.issn.1674-8115.2017.09.015

• 综述 • 上一篇    下一篇

DNMT3A 在血液肿瘤中的作用#br#

石晓东，戴钰俊，王月英   

  1. 上海交通大学 医学院附属瑞金医院，上海血液学研究所，上海 200025
  • 出版日期:2017-09-28 发布日期:2017-10-10
  • 通讯作者: 王月英，电子信箱：yywang@shsmu.edu.cn
  • 作者简介:石晓东（1993—），男，硕士生；电子信箱：shixiaodong@sjtu.edu.cn
  • 基金资助:
    国家自然科学基金（81570151）；上海市教育委员会高峰高原学科建设计划（20152507）；上海交通大学SMC 晨星青年学者计划（2014）

Role of DNA methyltransferase 3A in hematological malignancies#br#

SHI Xiao-dong, DAI Yu-jun, WANG Yue-ying   

  1. Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • Online:2017-09-28 Published:2017-10-10
  • Supported by:
     National Natural Science Foundation of China, 81570151; Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant Support, 20152507; Shanghai Jiao Tong University SMC-Morningstar Young Scholars Program, 2014

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摘要： DNA 甲基转移酶3A（DNMT3A）是表观遗传修饰相关的重要基因之一，承担着DNA 从头甲基化的修饰工作。DNMT3A 基 因突变可见于多种血液系统肿瘤，尤其在急性髓系白血病（AML）中发生频率较高，并提示预后不良。近年来的研究显示，DNMT3A 等表观遗传相关基因异常在血液肿瘤的发生发展中起重要作用，是 AML 发病的第Ⅲ类致病基因。该文就 DNMT3A 基因突变在血液肿 瘤中的临床及相关基础研究进展作一综述。

关键词: DNA 甲基转移酶 3A, 表观遗传修饰, 基因突变, 血液肿瘤

Abstract:

DNA methyltransferase 3A (DNMT3A) is one of the critical epigenetic modifiers responsible for de novo DNA methylation. DNMT3A mutations are identified in some kinds of hematological malignancies, especially in acute myeloid leukemia (AML) with high frequency, indicating poor prognosis. Recent researches have shown that abnormalities of epigenetic related genes such as DNMT3A play important roles in the development and progression of hematological malignancies, which was named as class Ⅲ mutation associated with the pathogenesis of AML. In this review, the progresses of clinical and basic researches about DNMT3A mutation in hematological malignancies were summarized.

Key words: DNA methyltransferase 3A, epigenetic modification, gene mutation, hematological malignancy