title: RECQ DNA helicases and osteosarcoma.
abstract: The RECQ family of DNA helicases is a conserved group of enzymes that are important for maintaining genomic integrity. In humans, there are five RECQ helicase genes, and mutations in three of them-BLM, WRN, and RECQL4-are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively. Importantly all three diseases are cancer predisposition syndromes. Patients with RTS are highly and uniquely susceptible to developing osteosarcoma; thus, RTS provides a good model to study the pathogenesis of osteosarcoma. The "tumor suppressor" role of RECQL4 and the other RECQ helicases is an area of active investigation. This chapter reviews what is currently known about the cellular functions of RECQL4 and how these may relate to tumorigenesis, as well as ongoing efforts to understand RECQL4's functions in vivo using animal models. Understanding the RECQ pathways may provide insight into avenues for novel cancer therapies in the future.
authors.affiliation: Section of Hematology/Oncology, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX, 77030, USA, linchaol@bcm.edu.
authors.forename: Linchao
authors.initials: L
authors.lastname: Lu
authors.forename: Weidong
authors.initials: W
authors.lastname: Jin
authors.forename: Hao
authors.initials: H
authors.lastname: Liu
authors.forename: Lisa L
authors.initials: LL
authors.lastname: Wang
mesh_terms: D000818:Animals; D001859:Bone Neoplasms / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001842:Bone and Bones / Q000378:metabolism / Q000473:pathology; D063646:Carcinogenesis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018450:Disease Progression; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D012516:Osteosarcoma / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D053484:RecQ Helicases / Q000235:genetics* / Q000378:metabolism; D011038:Rothmund-Thomson Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015398:Signal Transduction
chemical_list: C506731:RECQL4 protein, human; D053484:RecQ Helicases