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Human RECQ helicases: roles in cancer, aging, and inherited disease

Authors Sidorova J, Monnat, Jr. RJ

Received 16 September 2014

Accepted for publication 28 October 2014

Published 29 December 2014 Volume 2015:5 Pages 19—33

DOI https://doi.org/10.2147/AGG.S54078

Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 5

Editor who approved publication: Dr John Martignetti

Julia M Sidorova,1,* Raymond J Monnat Jr,1,2,*

1Department of Pathology, 2Department of Genome Sciences, University of Washington, Seattle, WA, USA

*The authors contributed equally to this review


Abstract: DNA helicases use the energy of ATP hydrolysis to disrupt DNA base pairing and displace proteins from DNA in order to facilitate replication, recombination, transcription, and repair. This article focuses on the human RECQ helicases, five DNA-dependent helicases that play key roles in cellular physiology and disease. Loss of function of three RECQ helicases causes the cancer predisposition syndromes Bloom syndrome, Werner syndrome, and Rothmund–Thomson and related syndromes. We summarize recent work on these syndromes and proteins and discuss disease pathogenesis in light of RECQ helicase biochemical activities and in vivo functions.

Keywords: ATP-dependent DNA helicase, Bloom syndrome, Werner syndrome, Rothmund–Thomson syndrome, DNA replication, DNA repair, genetic instability, cancer predisposition syndrome

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