DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders
DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders
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DOI：
10.1093/hmg/10.7.741
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发表时间：
2001-04-01
影响因子：
3.5
通讯作者：
Hickson, ID
中科院分区：
文献类型：
--
作者：
Mohaghegh, P;Hickson, ID
在至少三种与癌症易感性和/或早衰相关的人类遗传疾病中发现了RecQ家族解旋酶的缺乏。BLM、WRN和RECQ4基因编码的RecQ解旋酶分别在Bloom综合征、Werner综合征和rothmond - thomson综合征中存在缺陷。来自这些疾病个体的细胞在每种情况下都表现出固有的基因组不稳定性，最近的研究表明，这些RecQ解旋酶与染色体维持所需的几个方面的人类核蛋白之间存在直接相互作用，包括p53、BRCA1、拓扑异构酶III、复制蛋白A和DNA聚合酶delta。在这里，我们回顾了这个蛋白质相互作用的网络，以及它们提供的关于RecQ家族成员在DNA修复、复制和/或重组途径中的潜在作用的线索。
Deficiency in a helicase of the RecQ family is found in at least three human genetic disorders associated with cancer predisposition and/or premature ageing. The RecQ helicases encoded by the BLM, WRN and RECQ4 genes are defective in Bloom's, Werner's and Rothmund-Thomson syndromes, respectively. Cells derived from individuals with these disorders in each case show inherent genomic instability, Recent studies have demonstrated direct interactions between these RecQ helicases and human nuclear proteins required for several aspects of chromosome maintenance, including p53, BRCA1, topoisomerase III, replication protein A and DNA polymerase delta. Here, we review this network of protein interactions, and the clues that they present regarding the potential roles of RecQ family members in DNA repair, replication and/or recombination pathways.