文章：

解旋酶：基因组的守护者

RecQ helicases: caretakers of the genome

原文发布日期：2003-03-01

DOI: 10.1038/nrc1012

类型: Review Article

开放获取: 否

要点：

1. RecQ helicases represent a highly conserved family that is required for the maintenance of genome integrity.
2. In humans, defects in any of three RecQ family members (BLM, WRN or RECQ4) give rise to cancer predisposition disorders. These are Bloom's, Werner's and Rothmund–Thomson syndromes, respectively.
3. RecQ helicases are considered to be 'caretaker' tumour suppressors that suppress neoplastic transformation through control of chromosomal stability. Many other similar caretakers are functionally linked to the RecQ helicases, indicating a possible common molecular basis for tumorigenesis in several apparently distinct cancer predisposition disorders.
4. Human RecQ helicases make multiple physical interactions with other nuclear proteins that are required for DNA metabolism. Many of these interactions have a functional effect on the activity of one or both partners.
5. RecQ helicases are proposed to function at the interface between DNA replication and recombination to 'repair' damaged replication forks.

要点翻译：

1. RecQ解旋酶是一个高度保守的蛋白质家族，对维持基因组完整性具有重要作用。
2. 在人类中，三种RecQ家族成员（BLM、WRN或RECQ4）任一缺陷均可导致癌症易感综合征，分别为布卢姆综合征、维尔纳综合征和罗特蒙德-汤姆森综合征。
3. RecQ解旋酶被视为"看护者"肿瘤抑制因子，通过调控染色体稳定性来抑制肿瘤发生。许多其他类似的看护因子与RecQ解旋酶存在功能关联，提示几种表面迥异的癌症易感综合征可能具有共同的肿瘤发生分子基础。
4. 人类RecQ解旋酶与DNA代谢所需的其他核蛋白形成多重物理相互作用，这些相互作用多数会对一方或双方的活性产生功能性影响。
5. 研究认为RecQ解旋酶在DNA复制与重组交界处发挥作用，以"修复"受损的复制叉。

英文摘要：

RecQ helicases are highly conserved from bacteria to man. Germline mutations in three of the five known family members in humans give rise to debilitating disorders that are characterized by, amongst other things, a predisposition to the development of cancer. One of these disorders — Bloom's syndrome — is uniquely associated with a predisposition to cancers of all types. So how do RecQ helicases protect against cancer? They seem to maintain genomic stability by functioning at the interface between DNA replication and DNA repair.

摘要翻译： 

RecQ解旋酶从细菌到人类高度保守。人类五个已知家族成员中，三个的胚系突变会导致严重疾病，其特征之一是对癌症发展的易感性。其中一种疾病——Bloom综合征—— uniquely 与所有类型癌症的易感性相关。那么，RecQ解旋酶如何保护机体免受癌症侵害？它们似乎通过在DNA复制与DNA修复的交界处发挥作用，维持基因组稳定性。

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