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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bloom Syndrome / genetics
  • DNA / genetics
  • DNA / metabolism*
  • DNA Repair
  • DNA Replication
  • Genomic Instability
  • Humans
  • Mutagenesis*
  • Mutation
  • Neoplasms / genetics*
  • RecQ Helicases / genetics*
  • RecQ Helicases / metabolism*
  • Rothmund-Thomson Syndrome / genetics
  • Telomere
  • Werner Syndrome / genetics


  • DNA
  • RecQ Helicases