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pubmed-article:9150142pubmed:abstractTextA mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient. CSB-deficient mice exhibit all of the CS repair characteristics: ultraviolet (UV) sensitivity, inactivation of transcription-coupled repair, unaffected global genome repair, and inability to resume RNA synthesis after UV exposure. Other CS features thought to involve the functioning of basal transcription/repair factor TFIIH, such as growth failure and neurologic dysfunction, are present in mild form. In contrast to the human syndrome, CSB-deficient mice show increased susceptibility to skin cancer. Our results demonstrate that transcription-coupled repair of UV-induced cyclobutane pyrimidine dimers contributes to the prevention of carcinogenesis in mice. Further, they suggest that the lack of cancer predisposition in CS patients is attributable to a global genome repair process that in humans is more effective than in rodents.lld:pubmed
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pubmed-article:9150142pubmed:articleTitleDefective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.lld:pubmed
pubmed-article:9150142pubmed:affiliationMedical Genetics Center, Department of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.lld:pubmed
pubmed-article:9150142pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:9150142pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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