RECQ DNA Helicases and Osteosarcoma

被引：26

作者：

Lu, Linchao ^{[1
]}

Jin, Weidong ^{[1
]}

Liu, Hao ^{[2
]}

Wang, Lisa L. ^{[1
]}

机构：

[1] Baylor Coll Med, Texas Childrens Canc Ctr, Dept Pediat, Sect Hematol Oncol, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Med, Dan L Duncan Canc Ctr, Sect Hematol Oncol,Div Biostat, Houston, TX 77030 USA

来源：

CURRENT ADVANCES IN OSTEOSARCOMA | 2014年 / 804卷

关键词：

RECQ; RECQL4; DNA helicase; Rothmund-Thomson syndrome; RTS; Bloom syndrome; Werner syndrome; Osteosarcoma; ROTHMUND-THOMSON-SYNDROME; SYNDROME GENE-PRODUCT; MICROARRAY ANALYSIS; SYNDROME PROTEIN; HUMAN-CELLS; REPLICATION; MUTATIONS; REPAIR; EXPRESSION; ROLES;

D O I：

10.1007/978-3-319-04843-7_7

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：129 / 145

页数：17

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