Oct 12, 2010

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

Seminars in Cancer Biology
Raymond Monnat

Abstract

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.

  • References91
  • Citations47

Mentioned in this Paper

Fertility
Metabolic Process, Cellular
RECQL4 protein, human
Pathogenic Aspects
Craniosynostosis
Non-Homologous DNA End-Joining
Biochemical Pathway
Cataract
Sarcoma
Insulin-Like Growth Factor I

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