Bachrati Csanád Z, Hickson Ian D
Cancer Research UK Laboratories, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
Biochem J. 2003 Sep 15;374(Pt 3):577-606. doi: 10.1042/BJ20030491.
The RecQ helicases represent a subfamily of DNA helicases that are highly conserved in evolution. Loss of RecQ helicase function leads to a breakdown in the maintenance of genome integrity, in particular hyper-recombination. Germ-line defects in three of the five known human RecQ helicases give rise to defined genetic disorders associated with cancer predisposition and/or premature aging. These are Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome, which are caused by defects in the genes BLM, WRN and RECQ4 respectively. Here we review the properties of RecQ helicases in organisms from bacteria to humans, with an emphasis on the biochemical functions of these enzymes and the range of protein partners that they operate with. We will discuss models in which RecQ helicases are required to protect against replication fork demise, either through prevention of fork breakdown or restoration of productive DNA synthesis.
RecQ解旋酶是DNA解旋酶的一个亚家族,在进化过程中高度保守。RecQ解旋酶功能的丧失会导致基因组完整性维持的崩溃,尤其是高度重组。已知的五种人类RecQ解旋酶中有三种的种系缺陷会导致与癌症易感性和/或早衰相关的特定遗传疾病。这些疾病分别是布卢姆综合征、沃纳综合征和罗思蒙德-汤姆森综合征,它们分别由BLM、WRN和RECQ4基因的缺陷引起。在这里,我们综述了从细菌到人类的生物体中RecQ解旋酶的特性,重点是这些酶的生化功能以及它们与之相互作用的蛋白质伙伴的范围。我们将讨论需要RecQ解旋酶来防止复制叉消亡的模型,要么通过防止叉的崩溃,要么通过恢复有效的DNA合成。