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dc.contributor.authorMcKay, Michael J-
dc.contributor.authorCraig, Jeffery-
dc.contributor.authorKalitsis, Paul-
dc.contributor.authorKozlov, Sergei-
dc.contributor.authorVerschoor, Sandra-
dc.contributor.authorChen, Phillip-
dc.contributor.authorLobachevsky, Pavel-
dc.contributor.authorVasireddy, Raja-
dc.contributor.authorYan, Yuqian-
dc.contributor.authorRyan, Jacinta-
dc.contributor.authorMcGillivray, George-
dc.contributor.authorSavarirayan, Ravi-
dc.contributor.authorLavin, Martin F-
dc.contributor.authorRamsay, Robert G-
dc.contributor.authorXu, Huiling-
dc.identifier.citationInternational journal of radiation oncology, biology, physics 2018; online first: 30 November-
dc.description.abstractRoberts 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 a RBS-affected family. Lymphoblastoid cell lines (LCLs) were established from an RBS family, including the proband, and parents carrying ESCO2 mutations. Various DDR assays were performed on these cells, including clonogenic, chromosome break and apoptosis assays, checkpoint activation indicators and measures of DNA breakage and repair. Cells derived from the RBS-affected individual showed sensitivity to ionizing radiation (IR) and Mitomycin C (MMC) -induced DNA damage. In this ESCO2 compound heterozygote, other DNA damage responses were also defective, including enhanced IR-induced clastogenicity and apoptosis, increased DNA dsb induction and a reduced capacity for repairing IR -induced DNA dsbs as measured by γ-H2AX foci and the comet assay. in addition to its developmental features, RBS can be, like ataxia telangiectasia, considered a DNA damage response-defective syndrome, which contributes to its cellular, molecular and clinical phenotype.-
dc.titleA Roberts Syndrome individual with differential genotoxin sensitivity and a DNA damage response defect.-
dc.typeJournal Article-
dc.identifier.journaltitleInternational journal of radiation oncology, biology, physics-
dc.identifier.affiliationClinical Pathology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria 3010, Australiaen
dc.identifier.affiliationSchool of Medicine, Flinders University, Adelaide, South Australia 5001, Australiaen
dc.identifier.affiliationSir Peter MacCallum Department of Oncology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria 3010, Australiaen
dc.identifier.affiliationCancer Research Division, Peter MacCallum Cancer Centre, East Melbourne, Victoria 3002, Australiaen
dc.identifier.affiliationUniversity of Queensland Centre for Clinical Research, Royal Brisbane & Women's Hospital Campus, Herston, Queensland 4029, Australiaen
dc.identifier.affiliationVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria 3052, Australiaen
dc.identifier.affiliationOlivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationLatrobe University, Plenty Road, Bundoora, Victoria 3086, Australiaen
dc.identifier.affiliationAustin Health, Heidelberg, Victoria, Australia-
dc.type.austinJournal Article-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
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