Postnatal Growth Failure, Short Life Span, and Early Onset of Cellular Senescence and Subsequent Immortalization in Mice Lacking the Xeroderma Pigmentosum Group G Gene

REFERENCES

• Aboussekhra, A., and J. Wood 1994. Repair of UV-damaged DNA by mammalian cells and Saccharomyces cerevisiae. Curr. Opin. Genet. Dev. 4:212–220.
   PubMedGoogle Scholar
• Brookman, K. W., J. E. Lamerdin, M. P. Thelen, M. Hwang, J. T. Reardon, A. Sancar, Z.-Q. Zhou, C. A. Walter, C. N. Parris, and J. Thompson 1996. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. Mol. Cell. Biol. 16:6553–6562.
   PubMedGoogle Scholar
• Broughton, B. C., A. F. Thompson, S. A. Harcourt, W. Vermeulen, J. H. J. Hoeijmakers, E. Botta, M. Stefanini, M. D. King, C. A. Weber, and J. Cole 1995. Molecular and cellular analysis of the DNA repair defect in a patient with xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56:167–174.
   PubMedGoogle Scholar
• Cleaver, J. E., K. H. Kraemer 1995. Xeroderma pigmentosum and Cockayne syndrome, p. 4393–4419. In C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle (ed.), The metabolic basis of inherited disease. McGraw-Hill Press, New York, N.Y.
   Google Scholar
• Cloud, K. G., B. Shen, G. F. Strniste, and J. Park 1995. XPG protein has a structure-specific endonuclease activity. Mutat. Res. 347:55–60.
   PubMedGoogle Scholar
• Cooper, P. K., T. Nouspikel, S. G. Clarkson, and J. Leadon 1997. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275:990–993.
   PubMedGoogle Scholar
• de Boer, J., I. Donker, J. de Wit, J. H. J. Hoeijmakers, and J. Weeda 1998. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 58:89–94.
   PubMedGoogle Scholar
• de Boer, J., J. De Wit, H. Van Steeg, R. J. W. Berg, H. Morreau, P. Visser, A. R. Lehmann, M. Duran, J. H. J. Hoeijmaders, and J. Weeda 1998. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol. Cell 1:981–990.
   PubMedGoogle Scholar
• Demple, B., and J. Harrison 1994. Repair of oxidative damage to DNA: enzymology and biology. Annu. Rev. Biochem. 63:915–943.
   PubMed Web of Science ®Google Scholar
• de Vries, A., C. T. van Oostrom, F. M. Hofhuis, P. M. Dortant, R. J. Berg, F. R. de Gruijl, P. W. Wester, C. F. van Kreijl, P. J. Capel, H. van Steeg, and J. Verbeek 1995. Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA. Nature 377:169–173.
   PubMed Web of Science ®Google Scholar
• Drapkin, R., J. T. Reardon, A. Ansarl, J. C. Huang, L. Zawel, K. Ahn, A. Sancar, and J. Reinberg 1994. Dual role of TFIIH in DNA excision repair and transcription by RNA polymerase II. Nature 368:769–772.
   PubMed Web of Science ®Google Scholar
• Finlay, C. A., P. W. Hinds, T.-H. Tan, D. Eliyahu, M. Oren, and J. Levine 1988. Activating mutations for transformation by p53 produce a gene product that forms an hsc70-p53 complex with an altered half-life. Mol. Cell. Biol. 8:531–539.
   PubMed Web of Science ®Google Scholar
• Friedberg, E. C., G. C. Walker, W. Siede 1995. DNA repair and mutagenesis, p. 655–658 ASM Press, Washington, D.C.
   Google Scholar
• Friedberg, E. C. 1996. Cockayne syndrome—a primary defect in DNA repair, transcription, both or neither? Bioessays 18:731–738.
   PubMed Web of Science ®Google Scholar
• Gubbay, J., N. Vivian, A. Economou, D. Jackson, P. Goodfellow, and J. Lovell-Badge 1992. Inverted repeat structure of the Sry locus in mice. Proc. Natl. Acad. Sci. USA 89:7953–7957.
   PubMedGoogle Scholar
• Hamel, B. C. J., A. Raams, A. R. Shuitema-Dijkstra, P. Simons, I. Van der Burgt, N. G. J. Jaspers, and J. Kieijer 1996. Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J. Med. Genet. 33:607–610.
   PubMedGoogle Scholar
• Hanawalt, P. C. 1994. Transcription-coupled repair and human disease. Science 266:1957–1958.
   PubMed Web of Science ®Google Scholar
• Harada, Y.-N., Y. Matsuda, N. Shiomi, and J. Shiomi 1995. Complementary DNA sequence and chromosomal localization of xpg, the mouse counterpart of human repair gene XPG/ERCC5. Genomics 28:59–65.
   PubMedGoogle Scholar
• Harrington, J. J., and J. Lieber 1994. Functional domains within FEN-1 and RAD2 define a family of structure-specific endonucleases: implications for nucleotide excision repair. Genes Dev. 8:1344–1355.
   PubMedGoogle Scholar
• Harvey, D. M., and J. Levine 1991. p53 alteration is a common event in the spontaneous immortalization of primary BALB/c murine embryo fibroblast. Genes Dev. 5:2375–2385.
   PubMed Web of Science ®Google Scholar
• Henning, K. A., L. Li, N. Iyer, L. D. McDaniel, M. S. Reagan, R. Legerski, R. A. Schultz, M. Stefanini, A. R. Lehmann, L. V. Mayne, and J. Friedberg 1995. The Cockayne syndrome group A encodes a WD-repeat protein which interacts with CSB protein and a subunit of RNA pol II transcription factor IIH. Cell 82:555–564.
   PubMed Web of Science ®Google Scholar
• Kaul, S. C., R. Wadhwa, T. Sugihara, K. Obuchi, Y. Komatsu, and J. Mitsui 1994. Identification of genetic events involved in early steps of immortalization of mouse fibroblasts. Biochim. Biophys. Acta 1201:389–396.
   PubMedGoogle Scholar
• Legerski, R., and J. Peterson 1992. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359:70–73.
   PubMed Web of Science ®Google Scholar
• Lehmann, A. R. 1995. Nucleotide excision repair and the link with transcription. Trends Biochem. Sci. 20:402–405.
   PubMed Web of Science ®Google Scholar
• Ludwig, D. L., J. S. Mudgett, M. S. Park, A. V. Perez-Castro, and J. MacInnes 1996. Molecular cloning and structural analysis of the functional mouse genomic XPG gene. Mamm. Genome 7:644–649.
   PubMedGoogle Scholar
• Matsunaga, T., D. Mu, C. H. Park, J. T. Reardon, and J. Sancar 1995. Human DNA repair excision nuclease: analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC 1 antibodies. J. Biol. Chem. 270:20862–20869.
   PubMedGoogle Scholar
• Matsunaga, T., C. H. Park, T. Bessho, D. Mu, and J. Sancar 1996. Replication protein A confers structure-specific endonuclease activities to the XPF-ERCC1 and XPG subunits of human DNA repair excision nuclease. J. Biol. Chem. 271:11047–11050.
   PubMed Web of Science ®Google Scholar
• Mizuno, T., T. Matsunaga, M. Ihara, and J. Nikaido 1991. Establishment of a monoclonal antibody recognizing cyclobutane-type thymine dimers in DNA: a comparative study with 64M1 antibody specific for (6-4) photoproducts. Mutat. Res. 254:175–184.
   PubMedGoogle Scholar
• Moriwaki, S.-I., M. Stefanini, A. R. Lehmann, J. H. J. Hoeijmakers, J. H. Robbins, I. Rapin, E. Botta, B. Tanganelli, W. Vermeulen, B. C. Broughton, and J. Kraemer 1996. DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome resemble xeroderma pigmentosum cells. J. Investig. Dermatol. 107:647–653.
   PubMedGoogle Scholar
• Mu, D., C. H. Park, T. Matunaga, D. S. Hsu, J. T. Reardon, and J. Sancar 1995. Reconstitution of human DNA repair excision nuclease in a highly defined system. J. Biol. Chem. 270:2415–2418.
   PubMed Web of Science ®Google Scholar
• Mu, D., D. S. Hsu, and J. Sancar 1996. Reaction mechanism of human DNA repair excision nuclease. J. Biol. Chem. 271:8285–8294.
   PubMed Web of Science ®Google Scholar
• Nakane, H., S. Takeuchi, S. Yuba, M. Saijo, Y. Nakatsu, H. Murai, Y. Nakatsuru, T. Ishikawa, S. Hirota, Y. Kitamura, Y. Kato, Y. Tsunoda, H. Miyauchi, T. Horio, T. Tokunaga, T. Matsunaga, O. Nikaido, Y. Nishimune, Y. Okada, and J. Tanaka 1995. High incidence of ultraviolet-B- or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene. Nature 377:165–168.
   PubMed Web of Science ®Google Scholar
• Nance, M. A., and J. Berry 1992. Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42:68–84.
   PubMed Web of Science ®Google Scholar
• Nouspikel, T., P. Lalle, S. A. Leadon, P. K. Cooper, and J. Clarkson 1997. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implication for a second XPG function. Proc. Natl. Acad. Sci. USA 94:3116–3121.
   PubMedGoogle Scholar
• O’Donovan, A., A. A. Davis, J. G. Moggs, S. C. West, and J. Wood 1994. XPG endonuclease makes the 3′ incision in human DNA nucleotide excision repair. Nature 371:432–435.
   PubMedGoogle Scholar
• O’Donovan, A., D. Scherly, S. G. Clarkson, and J. Wood 1994. Isolation of active recombinant XPG protein, a human DNA repair endonuclease. J. Biol. Chem. 269:15965–15968.
   PubMedGoogle Scholar
• Sancar, A. 1996. DNA excision repair. Annu. Rev. Biochem. 65:43–81.
   PubMed Web of Science ®Google Scholar
• Satoh, M. S., and J. Hanawalt 1997. Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay. Biochim. Biophys. Acta 1354:241–251.
   PubMedGoogle Scholar
• Scherly, D., T. Nouspikel, J. Corlet, C. Ucla, A. Bairoch, and J. Clarkson 1993. Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. Nature 363:182–185.
   PubMed Web of Science ®Google Scholar
• Shaeffer, L., R. Roy, S. Humbert, V. Moncollin, W. Vermeulen, J. H. J. Hoijmakers, P. Chambon, and J. Egly 1993. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260:58–63.
   PubMedGoogle Scholar
• Shiomi, T., Y.-N. Harada, T. Saite, N. Shiomi, Y. Okuno, and J. Yamaizumi 1994. An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. Mutat. Res. 314:167–175.
   PubMedGoogle Scholar
• Sijbers, A. M., W. L. De Laat, R. R. Ariza, M. Biggerstaff, Y.-F. Wei, J. G. Moggs, K. C. Carter, B. K. Shell, E. Evans, M. C. De Jong, S. Rademakers, J. De Rooij, N. G. J. Jaspers, J. H. J. Hoeijmakers, and J. Wood 1996. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 86:811–822.
   PubMed Web of Science ®Google Scholar
• Tanaka, K., I. Satokata, Z. Ogita, T. Uchida, and J. Okada 1989. Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum. Proc. Natl. Acad. Sci. USA 86:5512–5516.
   PubMed Web of Science ®Google Scholar
• Troelstra, C., A. van Gool, J. de Wit, W. Vermeulen, D. Bootsma, and J. Hoeijmakers 1992. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne’s syndrome and preferential repair of active genes. Cell 71:939–953.
   PubMed Web of Science ®Google Scholar
• Van der Horst, G. T. J., H. van Steeg, R. J. W. Berg, A. J. van Gool, J. de Wit, G. Weeda, H. Morreau, R. B. Beems, C. F. van Kreijl, F. R. de Gruijl, D. Bootsma, and J. Hoeijmakers 1997. Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89:425–435.
   PubMed Web of Science ®Google Scholar
• Vermeulen, W., J. Jaeken, N. G. Jaspers, D. Bootsma, and J. Hoeijmakers 1993. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am. J. Hum. Genet. 53:185–192.
   PubMedGoogle Scholar
• Vermeulen, W., R. J. Scott, S. Rodgers, H. J. Muller, J. Cole, C. F. Arlett, W. J. Kleijer, D. Bootsma, J. H. J. Hoeijmakers, and J. Weeda 1994. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Hum. Genet. 54:191–200.
   PubMedGoogle Scholar
• Weber, C. A., E. P. Salazar, S. A. Stewart, and J. Thompson 1988. Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Mol. Cell. Biol. 8:1137–1146.
   PubMed Web of Science ®Google Scholar
• Weeda, G., R. C. A. van Ham, R. Masurel, A. Westerveld, H. Odijk, J. de Wit, D. Bootsma, A. J. van der Eb, and J. Hoeijmakers 1990. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. Mol. Cell. Biol. 10:2570–2581.
   PubMedGoogle Scholar