2019
DOI: 10.1016/j.ijrobp.2018.11.047
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A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect

Abstract: Syndrome individual with differential genotoxin sensitivity and a DNA damage response defect, SUMMARY 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 ch… Show more

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Cited by 9 publications
(6 citation statements)
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“…It is important to note in addition that both human and yeast models of RBS exhibit genotoxic sensitivity. We posit that defects in appropriate DNA damage responses, that include a failure to upregulate ESCO2, may constitute a critical but as yet unrecognized role in developmental defects [81][82][83]. The findings presented here demonstrate the complexity of cellular responses to DNA damage and provide tools for future endeavors that may further link Eco1 function and expression in disease and development.…”
Section: Plos Onementioning
confidence: 81%
“…It is important to note in addition that both human and yeast models of RBS exhibit genotoxic sensitivity. We posit that defects in appropriate DNA damage responses, that include a failure to upregulate ESCO2, may constitute a critical but as yet unrecognized role in developmental defects [81][82][83]. The findings presented here demonstrate the complexity of cellular responses to DNA damage and provide tools for future endeavors that may further link Eco1 function and expression in disease and development.…”
Section: Plos Onementioning
confidence: 81%
“…A link between RBS and DNA damage repair-deficient syndromes is evident from numerous studies. RBS patient cells exhibit hypersensitivities to a broad range of genotoxic agents that include the DNA cross-linker mitomycin C (MMC), ionizing radiation (IR), the topoisomerase II inhibitors etoposide, and the topoisomerase I inhibitor camptothecin (CPT) [ 5 , 10 , 64 , 71 – 74 ]. The role for cohesin in DNA damage responses includes both serving as a direct phosphorylation target of checkpoint kinases and promoting DNA repair [ 30 , 31 , 75 80 ].…”
Section: Introductionmentioning
confidence: 99%
“…This raises the possibility that RBS cell sensitivity to genotoxic stress could be attributed to either a failure to respond to DNA damage and/or a failure to repair the damaged DNA. On the one hand, RBS cell lines exhibit phosphorylation of ATM, checkpoint kinase 1 homolog (Chk1), and the tumor suppressor protein (p53) in response to DNA damaging agents [ 64 , 74 ], suggesting that these checkpoints are functional in RBS cells. On the other hand, several lines of evidence suggest that RBS cells exhibit a reduced ability to repair DNA damage after checkpoint activation.…”
Section: Introductionmentioning
confidence: 99%
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