2007/01/01 by Raymond J. Monnat, Guillaume Duclaux · 2 citations
Biochemistry, Genetics and Molecular Biology · Computer Science · Earth and Planetary Sciences · Medicine · #Acute Lymphoblastic Leukemia research #Carcinogens and Genotoxicity Assessment #DNA Repair Mechanisms #Geochemistry and Geologic Mapping #Geological Studies and Exploration #Geological and Geochemical Analysis
paper · doi:10.1016/j.semcancer.2010.10.002
openalex publication_date 2007/01/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/02
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.