Bochman Matthew L
Molecular and Cellular Biochemistry Department; Indiana University ; Bloomington, IN USA.
Mol Cell Oncol. 2014 Oct 29;1(3):e963429. doi: 10.4161/23723548.2014.963429. eCollection 2014 Jul-Sep.
Genome integrity is achieved and maintained by the sum of all of the processes in the cell that ensure the faithful duplication and repair of DNA, as well as its genetic transmission from one cell division to the next. As central players in virtually all of the DNA transactions that occur in vivo, DNA helicases (molecular motors that unwind double-stranded DNA to produce single-stranded substrates) represent a crucial enzyme family that is necessary for genomic stability. Indeed, mutations in many human helicase genes are linked to a variety of diseases with symptoms that can be generally described as genomic instability, such as predispositions to cancers. This review focuses on the roles of both DNA replication helicases and recombination/repair helicases in maintaining genome integrity and provides a brief overview of the diseases related to defects in these enzymes.
基因组完整性是通过细胞内所有确保DNA忠实复制、修复及其从一个细胞分裂到下一个细胞分裂的遗传传递的过程的总和来实现和维持的。作为体内几乎所有DNA交易的核心参与者，DNA解旋酶（将双链DNA解开以产生单链底物的分子马达）代表了一个对基因组稳定性至关重要的酶家族。事实上，许多人类解旋酶基因的突变与多种疾病相关，这些疾病的症状通常可描述为基因组不稳定，例如易患癌症。本综述重点关注DNA复制解旋酶和重组/修复解旋酶在维持基因组完整性中的作用，并简要概述与这些酶缺陷相关的疾病。
