中国科技核心期刊
CN:31-1600/Q
ISSN:1004-0374
“健康与疾病的免疫”国际学术研讨会通知      关于有网站冒充本刊网站的声明
《生命科学》 2017, 29(5): 421-426
BTR复合物在DNA损伤修复中的研究进展
孔阳阳,徐 畅,刘 强*
(中国医学科学院 北京协和医学院放射医学研究所 天津市放射医学与分子核医学重点实验室,天津 300192)
摘 要:Bloom 综合征(Bloom syndrome, BS) 是一种染色体紊乱型遗传病,BS 患者具有基因组不稳定性、癌症易患性以及姐妹染色单体交换增多等重要特征。BS 是由人体中BLM 基因突变所致,该基因编码的BLM 蛋白是一种RecQ DNA 解旋酶。BLM 蛋白与DNA 拓扑异构酶TopoIIIα、RecQ 介导的基因组不稳定蛋白1 和2 (RecQ-mediated genome instability protein, RMI1 和RMI2) 紧密结合形成BTR 复合物。该复合物能够抑制姐妹染色单体交换,维持基因组稳定性,在DNA 复制、重组以及修复过程中发挥重要作用。现介绍BLM 蛋白,并在此基础上对BTR 复合物成员之间的相互作用以及其在DNA 损伤修复中的作用进行阐述。
 
The BTR complex in DNA damage repair
KONG Yang-Yang, XU Chang, LIU Qiang*
(Tianjin Key Laboratory of Radiation Medicine and Molecular Nuclear Medicine, Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300192, China)
Abstract: Bloom syndrome (BS) is a chromosome instability genetic disease. BS patients are characterized by genomic instability, predisposition to a wide range of cancers and elevation of sister chromatid exchanges (SCEs) frequency. BS is caused by mutations in BLM, which encodes one of the RecQ helicases. BLM associates with topoisomerase IIIα, RMI1 and RMI2 to form an evolutionarily conserved complex. This complex, which is termed BLM dissolvasome or BTR complex, plays critical roles in maintaining genomic stability, DNA replication, recombination, and repair. In this review, we discuss the interactions among members of the BTR complex and their roles in DNA damage repair.
 
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