RECQ DNA helicases and osteosarcoma

Linchao Lu, Weidong Jin, Hao Liu, Lisa L. Wang

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

The RECQ family of DNA helicases is a conserved group of enzymes that are important for maintaining genomic integrity. In humans, there are fi ve 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.

Original languageEnglish (US)
Pages (from-to)129-145
Number of pages17
JournalAdvances in experimental medicine and biology
Volume804
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

Keywords

  • Bloom syndrome
  • DNA helicase
  • Osteosarcoma
  • RECQ
  • RECQL4
  • RTS
  • Rothmund–Thomson syndrome
  • Werner syndrome

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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