http://hdl.handle.net/1765/3116




Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.


Article
volume 89, issue 3 pp 425-435.
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A 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.



Keywords


Automatically Extracted Terms
  • csb / mice
  • repair
  • csb /
  • mouse
  • csb-deficient mice
  • csb-deficient
  • tumor
  • fibroblast
  • cancer
  • figure
  • csb / fibroblasts
  • genome repair
  • wild-type
  • transcription
  • protein
  • defect
  • patient
  • genome
  • syndrome
  • skin cancer


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