期刊
SEMINARS IN CANCER BIOLOGY
卷 20, 期 5, 页码 329-339出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcancer.2010.10.002
关键词
RECQ helicases; Bloom syndrome; Werner syndrome; Rothmund-Thomson syndrome; DNA replication; DNA repair; Telomeres; Homologous recombination; Genetic instability; Cancer predisposition syndrome; Cancer chemotherapy; Premature aging syndrome
类别
资金
- NIA
- NCI
- Nippon Boehringer Ingelheim Virtual Research Institute of Aging
- NATIONAL CANCER INSTITUTE [P01CA077852] Funding Source: NIH RePORTER
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. (C) 2010 Elsevier Ltd. All rights reserved.
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