35, Vcnema,.I., L. H. F. Mullenders, A. T. Natarajan, A. A. Van Zeeland, and L. V. Mayne. 1990. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc. Natl. Acad. Sci. USA 87:4707-4711. 36. Vermeulen, W., J. Jaeken, N. G. J. Jaspers, D. Bootsma, and J. H. J. Hoeijmakers. 1993. Xeroderma pigmentosum complementation group G associated with Cockayne's syndrome. Am. J. Human Genet. 53:185-192. 37. Vermeulen, W., R. J. Scott, S. Potger, H. J. Muller, 1. Cole, C. F. ArJett, W. J. Kleijer, D. Bootsma, 1. H. J. Hoeijmakers, and G. Weeda. 1994. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Human Gen. 54:191-200. 38. Vermeulen. W., A. J. van Vuuren, M. Chipoulet, L. Schaeffer, E. Appeldoom, G. Weed a, N. G. J. Jaspers, A. Priestley, C. F. Arlett, A. R. Lehmann, M. Stefanini, M, Mezzina, A. Sarasin, D. Bootsma, J.-M. Egly, and J. H. 1. Hoeijmakers. 1994. Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): Evidence for the existence of a transcription syndrome. Cold Spring Harb. Symp. Quant. BioI. 59:317-329. 39. Vuillaume, M., L. Daya-Grosjean, P. Vincens, J. Pennetier, P. Tarroux, A. Baret, R. Calvayrac, A. Taieb, and A. Sarasin. 1992. Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy. Carcinogenesis 13:321- 328. 40. Wang, X. W., W. Vermeulen, 1. D. Coursen, M. Gibson, S. E. Lupoid, K. Forrester, G. Xu, L. Elmore, H. Yeh, 1. H. 1. Hoeijmakers, and C. C. Harris. 1996. The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev. 10: 1219-1232. 41. Weeda, G., E. Eveno, I. Donker, W. Vermeulen, O. Chevallier-Lagente, A. Ta'ieb, A, StaTY, J. H. J. Hoeijmakers, M. Mezzina, and A. Sarasin. 1997. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet. 60:320-329. 42 Weeda, G., R. C. A. van Ham, W. Vermeulen, D. Bootsma, A. 1. van der Eb, and J. H. J. Hoeijmakers. 1990. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. Ce1162:777-791. 43. Wood, R. D. 1996. DNA repair in eukmyotes. Ann. Rev. ofBiochem. 65:135-167. 102 Chapter 5
CHAPTER 6 SYMPTOMS OF PREMATURE AGING IN A MOUSE MODEL FOR THE DNA REPAIR/BASAL TRANSCRIPTION SYNDROME TRICHOTHIODYSTROPHY
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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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XPC-I-p53+1- mice were more aggress
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tumor development was absent in a g
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[8, 9] reported substantial embryon
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in male sterility. As suggested by
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A point of concern in the extrapola
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CHAPTER 3 DISRUPTION OF THE MOUSE X
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INTRODUCTION To counteract the dele
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- Page 81 and 82: model (UDS, UV survival, pathology,
- Page 84 and 85: 33. Stefanini, M., Giliani, S., Nar
- Page 88 and 89: INTRODUCTION Genomic instability is
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- Page 106 and 107: INTRODUCTION The genome is under co
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- Page 114 and 115: DISCUSSION Human aging syndromes Ag
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- Page 121 and 122: SUMMARY AND CONCLUSIONS DNA damage
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- Page 132 and 133: LIST OF PUBLICATIONS Bitter, W., va
- Page 134 and 135: DANKWOORD Het schrijven van een dan
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