Rothmund-Thomson syndrome helicase, RECQ4: on the crossroad between DNA replication and repair

DNA Repair (Amst). 2010 Mar 2;9(3):325-30. doi: 10.1016/j.dnarep.2010.01.006. Epub 2010 Jan 21.


RECQ proteins are conserved DNA helicases in both prokaryotes and eukaryotes. The importance of the RECQ family helicases in human health is demonstrated by their roles as cancer suppressors that are vital for preserving genome integrity. Mutations in one of the RECQ family proteins, RECQ4, not only result in developmental abnormalities and cancer predispositions, but are also linked to premature aging. Therefore, defining the function and regulation of the RECQ4 protein is fundamental to our understanding of both the aging process and cancer pathogenesis. This review will summarize the clinical effect of RECQ4 in human health, and discuss the recent progress and debate in defining the complex molecular function of RECQ4 in DNA metabolism.

Publication types

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

MeSH terms

  • Animals
  • DNA / metabolism*
  • DNA Repair*
  • DNA Replication*
  • Humans
  • Protein Binding
  • RecQ Helicases / genetics
  • RecQ Helicases / metabolism*
  • Rothmund-Thomson Syndrome / enzymology


  • DNA
  • RecQ Helicases