33. Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., and Trevisan, G. (1992). DNA repair investigations in nine Halian patients affected by trichothiodystrophy. Mutat. Research 273,119-125. 34. Takayama, K., Salazar, E. P., Broughton, B. c., Lehmann, A R., Sarasin, A., Thompson, L. H., and Weber, C. A. (1996). Defects in the DNA repair and transciption gene ERCC2 (XPD) in trichthiodystrophy. Am. J. Hum. Genet. 58, 263-270. 35. Takayama, K., Salazar, E. P., Lehmann, AR., Stefanini, M., Thompson, L. H., and Weber, C. A. (1995). Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Cancer Res. 55, 5656-5663. 36. Taylor, E., Broughton, B., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N.G.J., Fawcett, H., Harcourt, S., Arlett, c.P., and Lehmann, A.R (1997). Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc. Natl. Acad. Sci. USA 94, 8658-8663. 37. Thomas, K. R., and Capecchi, M. R. (1987). Site-directed mutagenesis by gene-targeting in mouse embryo-derived stem cells. Cell 51, 503-512. 38. van der Horst, G.TJ., van Steeg, H., Berg, RJ.W., van Gool, A., de Wit, .T., Weeda, G., Morreau, H., Beems, R.B., van Kreijl, c.P., de Gruijl, F.R., Bootsma, D., and Hoeijmakers, lH.l (1997). Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89, 425-435. 39. Venema, l, Mullenders, L. H. F., Natarajan, A T., van Zeeland, A. A, and Mayne, L. V. (I 990). The genetic defect in Cockayne syndrome is associated with a defect in repair ofUV-induced DNA damage in transcriptionally active DNA. Proc. Natl. Acad. Sci. USA 87, 4707-4711. 40. Vermeulen, W., van Vuuren, A J., Chipoulet, M., Schaeffer, L., Appeldoom, E., Weeda, G., Jaspers, N. G. J., Priestley, A., Arlett, C. F., Lehmann, A. R, Stefanini, M., Mezzina, M., Sarasin, A., Boolsma, D., Egly, l-M., and Hoeijmakers, 1 H. l (1994a). Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): Evidence for the existence of a transcription syndrome. Cold Spring Harh. Symp. Quant. BioI. 59,317-329. 41. Vermeulen, W., Scott, R. l, Potger, S., Muller, H. J., Cole, J., ArIelt, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, 1 H. l, and Weeda, G. (1994b). Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Hum. Gen. 54, 191-200. 42. Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, 0., Tai'eb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., and Sarasin, A. (1997). A mutation in the XPBIERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet. 60,320-329. 43. Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A l, and Hoeijmakers, l H. 1. (1990). A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xerodenna pigmentosum and Cockayne's syndrome, Cell 62,777-791. 44. Wood, RD., Biggerstall M., and Shivji, M. K. K. (1995). Detection and measurement of nucleotide excision repair synthesis by mammalian cell extracts in vitro. Methods: a companion to methods in enzymology 7, 163-175. 45. Yamaizumi, A. and Sugano, T. (1994) UV-induced nuclear accumulation ofpS3 is evoked through damage of actively transcribed genes independent of the cell cycle. Oncogene 9, 2775-2784 84 Chapter 4
CHAPTER 5 MOUSE MODEL FOR THE DNA REPAIR/BASAL TRANSCRIPTION DISORDER TRICHOTHIODYSTROPHY REVEALS CANCER PREDISPOSITION.
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A MOUSE MODEL FOR TRICHOTHIODYSTROP
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CONTENTS Aim of the thesis 5 Chapte
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AIM OF THE THESIS Nucleotide excisi
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NUCLEOTIDE EXCISION REPAIR AND HUMA
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capacity to generate bulky base add
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strong interaction between XPG and
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XP is characterized by genetic hete
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are diagnosed as a collodion baby (
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23. Gerard, M., Fischer, L., Moncol
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associatcd with mutations in the DN
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CHAPTER 2 MOUSE MODELS TO STUDY THE
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NER DEFICIENCY AND GENOTOXIC SENSIT
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