Carcinogenesis, Vol. 21, No. 3, 453-460,
March 2000
© 2000 Oxford University Press
Cancer Biology |
Nucleotide excision repair and human syndromes
Medical Genetics Centre, Department of Cell Biology and Genetics, Centre for Biomedical Genetics, Erasmus University, PO Box 1738, 3000DR Rotterdam, The Netherlands
DNA damage is implicated in cancer and aging, and several DNA repair mechanisms exist that safeguard the genome from these deleterious consequences. Nucleotide excision repair (NER) removes a wide diversity of lesions, the main of which include UV-induced lesions, bulky chemical adducts and some forms of oxidative damage. The NER process involves the action of at least 30 proteins in a `cut-and-paste'-like mechanism. The consequences of a defect in one of the NER proteins are apparent from three rare recessive syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and the photosensitive form of the brittle hair disorder trichothiodystrophy (TTD). Sun-sensitive skin is associated with skin cancer predisposition in the case of XP, but remarkably not in CS and TTD. Moreover, the spectrum of clinical symptoms differs considerably between the three syndromes. CS and TTD patients exhibit a spectrum of neurodevelopmental abnormalities and, in addition, TTD is associated with ichthyosis and brittle hair. These typical CS and TTD abnormalities are difficult to comprehend as a consequence of defective NER. This review briefly describes the biochemistry of the NER process, summarizes the clinical features of the NER disorders and speculates on the molecular basis underlying these pleitropic syndromes.
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T. Schwerdtle, A. Seidel, and A. Hartwig Effect of soluble and particulate nickel compounds on the formation and repair of stable benzo[a]pyrene DNA adducts in human lung cells Carcinogenesis, January 1, 2002; 23(1): 47 - 53. [Abstract] [Full Text] [PDF]
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C. P. Rubbi and J. Milner Analysis of nucleotide excision repair by detection of single-stranded DNA transients Carcinogenesis, November 1, 2001; 22(11): 1789 - 1796. [Abstract] [Full Text] [PDF]
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H. Seker, D. Butkiewicz, E. D. Bowman, M. Rusin, M. Hedayati, L. Grossman, and C. C. Harris Functional Significance of XPD Polymorphic Variants: Attenuated Apoptosis in Human Lymphoblastoid Cells with the XPD 312 Asp/Asp Genotype Cancer Res., October 1, 2001; 61(20): 7430 - 7434. [Abstract] [Full Text] [PDF]
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K. Hemminki, G. Xu, S. Angelini, E. Snellman, C. T. Jansen, B. Lambert, and S.-M. Hou XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ Carcinogenesis, August 1, 2001; 22(8): 1185 - 1188. [Abstract] [Full Text] [PDF]
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F. Bernerd, D. Asselineau, C. Vioux, O. Chevallier-Lagente, B. Bouadjar, A. Sarasin, and T. Magnaldo Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin invitro PNAS, July 3, 2001; 98(14): 7817 - 7822. [Abstract] [Full Text] [PDF]
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U. Vogel, M. Hedayati, M. Dybdahl, L. Grossman, and B. A. Nexo Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited Carcinogenesis, June 1, 2001; 22(6): 899 - 904. [Abstract] [Full Text] [PDF]
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L. Queimado, M. Rao, R. A. Schultz, E. V. Koonin, L. Aravind, T. Nardo, M. Stefanini, and E. C. Friedberg Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant Nucleic Acids Res., May 1, 2001; 29(9): 1884 - 1891. [Abstract] [Full Text] [PDF]
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D. Butkiewicz, M. Rusin, L. Enewold, P. G. Shields, M. Chorazy, and C. C. Harris Genetic polymorphisms in DNA repair genes and risk of lung cancer Carcinogenesis, April 1, 2001; 22(4): 593 - 597. [Abstract] [Full Text] [PDF]
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Y. Lu, H. Lian, P. Sharma, N. Schreiber-Agus, R. G. Russell, L. Chin, G. T. J. van der Horst, and D. B. Bregman Disruption of the Cockayne Syndrome B Gene Impairs Spontaneous Tumorigenesis in Cancer-Predisposed Ink4a/ARF Knockout Mice Mol. Cell. Biol., March 1, 2001; 21(5): 1810 - 1818. [Abstract] [Full Text]
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D. Tomescu, G. Kavanagh, T. Ha, H. Campbell, and D. W. Melton Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma Carcinogenesis, March 1, 2001; 22(3): 403 - 408. [Abstract] [Full Text] [PDF]
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M. C. Hollander, O. Kovalsky, J. M. Salvador, K. E. Kim, A. D. Patterson, D. C. Haines, and A. J. Fornace Jr. Dimethylbenzanthracene Carcinogenesis in Gadd45a-null Mice Is Associated with Decreased DNA Repair and Increased Mutation Frequency Cancer Res., March 1, 2001; 61(6): 2487 - 2491. [Abstract] [Full Text]
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A. L. Medhurst, P. A.J. Huber, Q. Waisfisz, J. P. de Winter, and C. G. Mathew Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway Hum. Mol. Genet., February 1, 2001; 10(4): 423 - 429. [Abstract] [Full Text] [PDF]
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S. Colella, T. Nardo, E. Botta, A. R. Lehmann, and M. Stefanini Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum Hum. Mol. Genet., May 1, 2000; 9(8): 1171 - 1175. [Abstract] [Full Text] [PDF]
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A. Balmain and C. C.Harris Carcinogenesis in mouse and human cells: parallels and paradoxes Carcinogenesis, March 1, 2000; 21(3): 371 - 377. [Abstract] [Full Text] [PDF]
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 P.C. HANAWALT, D.J. CROWLEY, J.M. FORD, A.K. GANESAN, D.R. LLOYD, T. NOUSPIKEL, C.A. SMITH, G. SPIVAK, and S. TORNALETTI Regulation of Nucleotide Excision Repair in Bacteria and Mammalian Cells Cold Spring Harb Symp Quant Biol, January 1, 2000; 65(0): 183 - 192. [Abstract] [PDF]
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S.E. TSUTAKAWA and P.K. COOPER Transcription-coupled Repair of Oxidative DNA Damage in Human Cells: Mechanisms and Consequences Cold Spring Harb Symp Quant Biol, January 1, 2000; 65(0): 201 - 216. [Abstract] [PDF]
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P. Frit, R.-Y. Li, D. Arzel, B. Salles, and P. Calsou Ku Entry into DNA Inhibits Inward DNA Transactions in Vitro J. Biol. Chem., November 10, 2000; 275(46): 35684 - 35691. [Abstract] [Full Text] [PDF]
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A. Tremeau-Bravard, C. Perez, and J.-M. Egly A Role of the C-terminal Part of p44 in the Promoter Escape Activity of Transcription Factor IIH J. Biol. Chem., July 13, 2001; 276(29): 27693 - 27697. [Abstract] [Full Text] [PDF]
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K. M. Vasquez, J. Christensen, L. Li, R. A. Finch, and P. M. Glazer Human XPA and RPA DNA repair proteins participate in specific recognition of triplex-induced helical distortions PNAS, April 30, 2002; 99(9): 5848 - 5853. [Abstract] [Full Text] [PDF]
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