Role of the Bloom's syndrome helicase in maintenance of genome stability
Role of the Bloom's syndrome helicase in maintenance of genome stability
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DOI：
10.1042/0300-5127:0290201
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发表时间：
2001-05-01
影响因子：
3.9
通讯作者：
Wu, L
中科院分区：
文献类型：
--
作者：
Hickson, ID;Davies, SL;Wu, L
DNA解旋酶的RecQ家族在所有分析的生物中都有成员。在人类中，三个家族成员的缺陷与疾病状况相关：Bloom综合征中BLM有缺陷，Werner综合征中WRN有缺陷，Rothmund-Thomson综合征中RTS有缺陷。在每种情况下，受影响个体的细胞都表现出固有的基因组不稳定性。我们工作的重点是Bloom综合征基因及其产物BLM。本文就BLM在维持基因组完整性中的作用作一综述。
The RecQ family of DNA helicases has members in all organisms analysed. In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome. In each case, cells from affected individuals show inherent genomic instability. The focus of our work is the Bloom's syndrome gene and its product, BLM. Here, Re review the latest information concerning the roles of BLM in the maintenance of genome integrity.