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associatcd with mutations in the DNA repair and transcription gene ERCC3. Am. 1 Human Gcn. 54, 191-200. 60. van Vuuren, A.1., Vermculen, W., Ma, L., Weeda, G., Appeldoorn, E., Jaspers, N.G..I., van del' Eb, A..I., Bootsma, D., Hocijmakers, J.lI.J., Humbert, S., Schaeffer, Land Egly, J.-M. (1994) COl,-cction of xeroderma pigmentoS1l1l1 rcpair defect by basal transcription factor BTF2(TFIIH). [MBO 13, 1645-1653. 61. 1tin, P.H. and Piltclkow, M.R. (1990) Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with thc ectodermal dysplasias. J. Am. Acad. Dermatol. 22, 705-717. 62. Botta, E., Nardo, T., Broughton, B.C., Marinoni, S., Lehmann, A.R. and Stefanini, M. (1998) Analysis of mutations in the XPD gene in patients with triehothiodystrophy: site of mutation correlates with repair deficiency but gene dosage appears to determine clinical severity. Am . .1. Hum. (Jen 63, 1036-1048. 63. Powell, B.C. and Rogers, G.E. (1994) Differentiation in hard keratin tissues: hair and related structures. In: The keratinocytc handbook (Leigh, I.M. and Lane, E.B., eds.), pp. 401 -436, Cambridge University Press, Cambridge (UK). 64. Gillespie, J. and Marshall, R. (1983) A comparison of the proteins or normal and triehothiodystrophic human hair. .r. Invest. Dermatol. 80, 195-202. 65. Baltistelta, P. and Peserico, A. (1996) Ccnlral nervous system dysmyelination in PIBI(D)S syndrome: a further case. Childs Nerv. Syst. 12, 110-113. 66. McCuuig, c., Marcoux, D., Rasmussen, .I.E., Werncr, M.M. and Genter, N.l:. (1993) Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis. J. of the American Acadamy of dermatology 28, 820-826. 67. Sarasin, A., Blanchet-Bardon, c., Renault, G., Lehmann, A., Arlell, C. and Dumez, Y. (1992) Prenatal diagnosis in a subset of trichothiodystrophy paticnts defective in DNA repair. Br. J. Dcrmatol. 127,485-491. 6)\. Norwood, W.F. (1964) The Marinesco-Sjogren syndrome. J. Pediatric. 65,431-437. 69. Taylor, E., Broughton, B., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N., Fawcett, H., Harcourt, S., Ariett, C. and Lehmann, A. (1997) Xeroderma pigmentosum and trichothiodystrophy are associated with dith:rent mutations in the XPD (ERCC2) repairitnmscription gene. Proc. Natl. Acad. Sci. USA 94,8658-8663. 70. 13roughton, B.C, Thompson, A.r., lIarcourt, S.A., Vermeulen, W., Hoeijmakers, .1.11..1., Botta, E., Stefanini, M., King, M.D., Weber, CA., Cole, 1, Arleu, c.r. and Lehmann, A.R. (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xerodcrma pigmentosum complemcntation group 0 who has thc clinical ICatures of xeroderma pigmentosull1 and Cockayne syndrome. A]11 . .J. Hum. Genel. 56,167-174. 71. Lehmann, A.R., Arlelt, c.r., Broughton, B.C., Harcourt, S.A., Steingrimsdoltir, I-I., Stefanini, M., Maleolm, A., Taylor, R, Nalarajan, A.T., Green, S. and et, a.1. (1988) Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light. Cancer Res. 48, 6090-6096. 72 Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R. and Trevisan, G. (1992) DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutation Res. 273,119-125. 73 Eveno, E., Bourre, r., Quil1iet, X., Chevallier-Lagente, 0., Roza, L., EkeI', A., Kleijer, W., Nikaido, 0., Stefanini, M., Hoeijm
7(,. Madzak, c., Armicr, J., Stmy, A., Daya-Grosjean, L. and Sarasin, A. (1993) UV-induccd mutations in u shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosu!ll. Carcinogenesis 14, 1255-1260. 77. Ahrens, c., Grewe, M., Bemeburg, M., Grether-Beck, S., Quilliet, X., Mezzina, M., Sarasin, A., Lehmann, A., Arlett, C. and Krutmunn, 1. (1997) Photocarcinogenesis and inhibition of intercellular adhcsion molecule 1 expression in cells of DNA-repair-detective individuals. Proc. Natl. Acad. Sci. USA 94, 6837-6841. 78. Vuillaume, M., Daya-Grosjcan, L., Vincens, P., Pennetier, .I., TaJTOUX, P., Baret, A., Calvayrac, R., Taicb, A. and Sarasin, A. (1992) Striking dincrenees in cellular catalase activity between two DNA repair-del1cicnt diseases: xeroderma pigmentosum and trichothiodystrophy. Carcinogenesis 13, 321- 328. 79. Vermeulen, W., van Vuuren, A .. 1., Chipoulet, M., Sehucffcr, L., Appeldoorn, E., Weeda, G., Jas.pers, N.G.J., Priestley, A., Ariel!, C'.F., Lehmann, A.R., Stefanini, M., Mczzina, M., Sarasin, 1\., Bootsma, D., Egly, J.-M. and Iloeijmakcrs, 1.H.J. (1994) Three unusual repair deficiencies associated with transcription faclor BTF2(TFlIH): Evidence for the existence of a transcription syndrome. Cold Spring 1·larb. Symp. Quant. BioI. 59, 317-329. 80. Hoeijmakers, .I.H..I. (1994) ! luman nucleotide excision repair syndromes: molecular clues to uncxpected intricacies. Eur. J. of Cancer 30A, 1912-1921. 81. Winkkr, G.S. and Hoeijmakers, .1.1 I.J. (1998) from a DNA helicase to brittle hair. Nat. (lenet. 20, 106-107. Nucleotide excision repair and human syndromes 25
Page 1 and 2: A MOUSE MODEL FOR TRICHOTHIODYSTROP
Page 3 and 4: CONTENTS Aim of the thesis 5 Chapte
Page 5: AIM OF THE THESIS Nucleotide excisi
Page 9 and 10: NUCLEOTIDE EXCISION REPAIR AND HUMA
Page 11 and 12: capacity to generate bulky base add
Page 14 and 15: strong interaction between XPG and
Page 16 and 17: XP is characterized by genetic hete
Page 18: are diagnosed as a collodion baby (
Page 22 and 23: 23. Gerard, M., Fischer, L., Moncol
Page 27: CHAPTER 2 MOUSE MODELS TO STUDY THE
Page 30: NER DEFICIENCY AND GENOTOXIC SENSIT
Page 34 and 35: XPC-I-p53+1- mice were more aggress
Page 36 and 37: tumor development was absent in a g
Page 38 and 39: [8, 9] reported substantial embryon
Page 41 and 42: in male sterility. As suggested by
Page 43: A point of concern in the extrapola
Page 47: CHAPTER 3 DISRUPTION OF THE MOUSE X
Page 50: INTRODUCTION To counteract the dele
Page 57: RAD3 and RAD25 protein (the latter
Page 63: CHAPTER 4 A MOUSE MODEL FOR THE BAS
Page 72 and 73: Death occurs after a short period o
Page 77:
Table 3. Comparison of the TTDIBEL
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
Page 91:
correlates very well with literatur
Page 96 and 97:
mice, which are histologically noml
Page 98 and 99:
proneness in mice cOlTesponds with
Page 101 and 102:
18, Lehmann, A. R., C. F, Arlclt, B
Page 103:
CHAPTER 6 SYMPTOMS OF PREMATURE AGI
Page 106 and 107:
INTRODUCTION The genome is under co
Page 108 and 109:
osteosclerosis, carly depigmentatio
Page 110:
oocyte that showed gemlinal vesicle
Page 114 and 115:
DISCUSSION Human aging syndromes Ag
Page 116 and 117:
lower levels of the anti-oxidants s
Page 118:
6. Nance, M.A and Ben·y, S.A. (199
Page 121 and 122:
SUMMARY AND CONCLUSIONS DNA damage
Page 123 and 124:
features are due to an impairment o
Page 125:
symptoms in normal aging. Oxidative
Page 130 and 131:
In Hoofdstuk 5 worden experimenten
Page 132 and 133:
LIST OF PUBLICATIONS Bitter, W., va
Page 134 and 135:
DANKWOORD Het schrijven van een dan
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