Journal article
The DNA Helicase Recql4 Is Required for Normal Osteoblast Expansion and Osteosarcoma Formation
AJM Ng, MK Walia, MF Smeets, AJ Mutsaers, NA Sims, LE Purton, NC Walsh, TJ Martin, CR Walkley
Plos Genetics | Published : 2015
Abstract
RECQL4 mutations are associated with Rothmund Thomson Syndrome (RTS), RAPADILINO Syndrome and Baller-Gerold Syndrome. These patients display a range of benign skeletal abnormalities such as low bone mass. In addition, RTS patients have a highly increased incidence of osteosarcoma (OS). The role of RECQL4 in normal adult bone development and homeostasis is largely uncharacterized and how mutation of RECQL4 contributes to OS susceptibility is not known. We hypothesised that Recql4 was required for normal skeletal development and both benign and malignant osteoblast function, which we have tested in the mouse. Recql4 deletion in vivo at the osteoblastic progenitor stage of differentiation resul..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
This work was supported by grants: NHMRC (www.nhmrc.gov.au) Project Grant (CRW; Grant # 1065002); NHMRC Career Development Award (CRW; Grant # 559016); NHMRC Research Fellowship (NAS; Grant # 1019703 and LEP; Grant # 1003339); Cancer Therapeutics CRC (www.cancercrc.com) PhD Scholarship (AJMN); in part by the Victorian State Government Operational Infrastructure Support Program (to St. Vincent's Institute); CRW was the Phillip Desbrow Senior Research Fellow of the Leukaemia Foundation (www.leukaemia.org.au). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.