Bennett Richard J, Keck James L
Department of Microbiology and Immunology, University of California, San Francisco, California, USA.
Crit Rev Biochem Mol Biol. 2004 Mar-Apr;39(2):79-97. doi: 10.1080/10409230490460756.
RecQ family helicases play important roles in coordinating genome maintenance pathways in living cells. In the absence of functional RecQ proteins, cells exhibit a variety of phenotypes, including increased mitotic recombination, elevated chromosome missegregation, hypersensitivity to DNA-damaging agents, and defects in meiosis. Mutations in three of the five human RecQ family members give rise to genetic disorders associated with a predisposition to cancer and premature aging, highlighting the importance of RecQ proteins and their cellular activities for human health. Current evidence suggests that RecQ proteins act at multiple steps in DNA replication, including stabilization of replication forks and removal of DNA recombination intermediates, in order to maintain genome integrity. The cellular basis of RecQ helicase function may be explained through interactions with multiple components of the DNA replication and recombination machinery. This review focuses on biochemical and structural aspects of the RecQ helicases and how these features relate to their known cellular function, specifically in preventing excessive recombination.
RecQ家族解旋酶在协调活细胞中的基因组维护途径方面发挥着重要作用。在缺乏功能性RecQ蛋白的情况下，细胞会表现出多种表型，包括有丝分裂重组增加、染色体错分离升高、对DNA损伤剂的超敏反应以及减数分裂缺陷。人类RecQ家族的五个成员中有三个发生突变会导致与癌症易感性和早衰相关的遗传疾病，这突出了RecQ蛋白及其细胞活性对人类健康的重要性。目前的证据表明，RecQ蛋白在DNA复制的多个步骤中起作用，包括稳定复制叉和去除DNA重组中间体，以维持基因组完整性。RecQ解旋酶功能的细胞基础可以通过与DNA复制和重组机制的多个组分的相互作用来解释。本综述重点关注RecQ解旋酶的生化和结构方面，以及这些特征如何与其已知的细胞功能相关，特别是在防止过度重组方面。
