The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress

Visions & Reflections (Minireview)


The RecQ family of DNA helicases is highly conserved throughout evolution and plays an important role in the maintenance of genomic stability in all organisms. Mutations in three of the five known family members in humans, BLM, WRN and RECQL4, give rise to disorders that are characterized by predisposition to cancer and premature aging, emphasizing the importance of studying the RecQ proteins and their cellular activities. Interestingly, three autosomal recessive disorders have been associated with mutations in the RECQL4 gene: Rothmund-Thomson, RAPADILINO, and Baller-Gerold syndromes, thus making RECQL4 unique within the RecQ family of DNA helicases. To date, however, the molecular function of RECQL4 and the possible cellular pathways in which it is involved remain poorly understood. Here, we present an overview of recent findings in connection with RECQL4 and try to highlight different directions the field could head, helping to clarify the role of RECQL4 in preventing tumorigenesis and maintenance of genome integrity in humans.


Genome stability cancer RecQ helicases RECQL4 Rothmund-Thomson syndrome RAPADILINO syndrome Baller-Gerold syndrome 

Copyright information

© Birkhäuser Verlag, Basel 2007

Authors and Affiliations

  1. 1.Terrence Donnelly Centre for Cellular and Biomolecular Research (CCBR), Department of Biochemistry and Department of Medical Genetics and Microbiology, Faculty of MedicineUniversity of TorontoTorontoCanada

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