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Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

机译:人RECQ解旋酶:在DNA代谢,诱变和癌症生物学中的作用。

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摘要

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.
机译:解旋酶利用ATP水解的能量来分离双链核酸,以促进必要的过程,例如复制,重组,转录和修复。本文重点介绍人类RECQ解旋酶基因和蛋白质家族。已经显示出三个不同成员的功能丧失会导致布鲁姆综合征(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理。我还讨论了RECQ解旋酶作为疾病风险和对治疗反应的预测指标的新兴作用。

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