| RECQL4 is a member of the RecQ family of DNA helicases that plays an important role in global genomic stability. There are five members of this family in humans, and mutations in three of these, BLM, WRN and RECQL4, give rise to disorders that are characterized by premature aging and a predisposition to cancer. Despite the presence of a helicase domain, no helicase activity has been reported for RECQL4. Rather, RECQL4 has an ATPase function that is stimulated by ssDNA, and a ssDNA annealing activity that is inhibited by RPA. RECQL4 has been reported to interact with ubiquitin ligases UBR1 and UBR2. The role of RECQL4 in tumor suppression and the maintenance of genomic integrity has been attributed to it’s activities associated with the regulation of DNA replication, and DNA recombination and repair. Mutations in the RECQL4 gene have been identified in a subset of patients with Rothmund-Thomson syndrome (RTS) - a disorder characterized by growth deficiency, skin and skeletal abnormalities, and cancer predisposition. Two more autosomal recessive disorders have been associated with RECQL4 gene mutations: RAPADILINO, and Baller-Gerold syndromes. |
