Journal article
A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect
MJ McKay, J Craig, P Kalitsis, S Kozlov, S Verschoor, P Chen, P Lobachevsky, R Vasireddy, Y Yan, J Ryan, G McGillivray, R Savarirayan, MF Lavin, RG Ramsay, H Xu
International Journal of Radiation Oncology Biology Physics | ELSEVIER SCIENCE INC | Published : 2019
Abstract
Purpose: Roberts syndrome (RBS) is a rare, recessively transmitted developmental disorder characterized by growth retardation, craniofacial abnormalities, and truncation of limbs. All affected individuals to date have mutations in the ESCO2 (establishment of cohesion 2) gene, a key regulator of the cohesin complex, which is involved in sister chromatid cohesion and DNA double-strand break (DSB) repair. Here we characterize DNA damage responses (DDRs) for the first time in an RBS-affected family. Methods and Materials: Lymphoblastoid cell lines were established from an RBS family, including the proband and parents carrying ESCO2 mutations. Various DDR assays were performed on these cells, inc..
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Funding Acknowledgements
The authors thank the National Health and Medical Research Council (NHMRC) of Australia for project grants to Dr Huiling Xu, Dr Michael J. McKay, Dr Robert G. Ramsay, Dr Jeffery Craig, Dr Paul Kalitsis, Dr Martin F. Lavin, and Dr Sergei Kozlov. We acknowledge the microscopy core at the Peter MacCallum Cancer Centre. We thank the patient and her family for their generous support of the study.