Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.

@article{Theron2005TranscriptionassociatedBI,
  title={Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.},
  author={Therina Theron and Maria I. Fousteri and Marcel Volker and Lorna W Harries and Elena Botta and M. Stefanini and Mitsuo Fujimoto and Jaan-Olle Andressoo and Jay B. Mitchell and Nicolaas G. J. Jaspers and Lisa D. McDaniel and L. H. Mullenders and Alan R. Lehmann},
  journal={Molecular and cellular biology},
  year={2005},
  volume={25 18},
  pages={
          8368-78
        }
}
Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS). We previously showed that in cells from two XP-D/CS patients, breaks were introduced into cellular DNA on exposure to UV damage, but these breaks were not at the sites of the damage. In the present work, we show that three further XP-D/CS patients show the same peculiar breakage… CONTINUE READING

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