Department of Pathology, University of Washington, Seattle, WA 98195-7705, USA.
Semin Cancer Biol. 2010 Oct;20(5):329-39. doi: 10.1016/j.semcancer.2010.10.002. Epub 2010 Oct 8.
Helicases use the energy of ATP hydrolysis to separate double-stranded nucleic acids to facilitate essential processes such as replication, recombination, transcription and repair. This article focuses on the human RECQ helicase gene and protein family. Loss of function of three different members has been shown to cause Bloom syndrome (BS), Werner syndrome (WS) and Rothmund-Thomson syndrome (RTS). This article outlines clinical and cellular features of these cancer predisposition syndromes, and discusses their pathogenesis in light of our understanding of RECQ helicase biochemical activities and in vivo functions. I also discuss the emerging role for RECQ helicases as predictors of disease risk and the response to therapy.
解旋酶利用 ATP 水解的能量将双链核酸分离,从而促进复制、重组、转录和修复等基本过程。本文主要介绍人类 RECQ 解旋酶基因和蛋白家族。已有研究表明,三种不同成员的功能丧失会导致布卢姆综合征(BS)、沃纳综合征(WS)和 Rothmund-Thomson 综合征(RTS)。本文概述了这些癌症易感性综合征的临床和细胞特征,并根据我们对 RECQ 解旋酶生化活性和体内功能的理解,讨论了它们的发病机制。我还讨论了 RECQ 解旋酶作为疾病风险预测因子和治疗反应的新兴作用。