RECQL4 in genomic instability and aging

Deborah L. Croteau, Dharmendra Kumar Singh, Leslie Hoh Ferrarelli, Huiming Lu, Vilhelm A. Bohr

Research output: Contribution to journalReview articlepeer-review

61 Scopus citations


Helicases are ubiquitous proteins that unwind DNA and participate in DNA metabolism including replication, repair, transcription, and chromatin organization. The highly conserved RecQ helicase family proteins are important in these transactions and have been termed the guardians of the genome. Humans have five members of this family: WRN, BLM, RECQL4, RECQL1, and RECQL5. The first three of are associated with premature aging and cancer prone syndromes, but the latter two proteins have not yet been implicated in any human disease. Although WRN and BLM have been fairly well characterized, RECQL4 has only recently been intensively investigated. The sum of this work to date has shown that RECQL4 has helicase activity and localizes to telomeres and mitochondria. In addition, new protein partners are emerging, implicating RECQL4 in novel processes. Here, we describe these recent findings which place RECQL4 at the crossroads of genomic instability and aging processes.

Original languageEnglish (US)
Pages (from-to)624-631
Number of pages8
JournalTrends in Genetics
Issue number12
StatePublished - Dec 2012
Externally publishedYes


  • Aging
  • Cancer
  • RecQ helicase
  • Rothmund-Thomson syndrome

ASJC Scopus subject areas

  • Genetics


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