Identification of the XPG Region That Causes the Onset of Cockayne Syndrome by Using Xpg Mutant Mice Generated by the cDNA-Mediated Knock-In Method

REFERENCES

• Aboussekhra, A., and Wood R. D.. 1994. Repair of UV-damaged DNA by mammalian cells and Saccharomyces cerevisiae. Curr. Opin. Genet. Dev. 4:212–220.
   PubMedGoogle Scholar
• Aboussekhra, A., Biggerstaff M., Shivji M. K., Vilpo J. A., Monocollin V., Podust V. N., Protic M., Hubscher U., Egly J. M., and Wood R. D.. 1995. Mammalian DNA nucleotide excision repair reconstituted with purified protein components. Cell 80:859–868.
   PubMed Web of Science ®Google Scholar
• Bambara, R. A., Murante R. S., and Henricksen L. A.. 1997. Enzymes and reactions at the eukaryotic DNA replication fork. J. Biol. Chem. 272:4647–4650.
   PubMedGoogle Scholar
• Bootsma, D., and Hoeijmakers J. H. J.. 1993. Engagement with transcription. Nature 363:114–115.
   PubMed Web of Science ®Google Scholar
• Bradsher, J., Auriol J., de Santis L. P., Iban S., Vonesh J. L., Grummt I., and Egly J. M.. 2002. CSB is a component of RNA pol I transcription. Mol. Cell 10:819–829.
   PubMed Web of Science ®Google Scholar
• Broughton, B. C., Thompson A. F., Harcourt S. A., Vermeulen W., Hoeijmakers J. H. J., Botta E., Stefanini M., King M. D., Weber C. A., and Cole J.. 1995. Molecular and cellular analysis of the DNA repair defect in a patient with xeroderma pigmentosum complementation group D who had the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet. 56:167–174.
   PubMedGoogle Scholar
• Constantinou, A., Gunz D., Evans E., Lalle P., Bates P. A., Wood R. D., and Clarkson S. G.. 1999. Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. J. Biol. Chem. 274:5637–5648.
   PubMedGoogle Scholar
• Cooper, P. K., Nouspikel T., Clarkson S. G., and Leadon S. A.. 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., J. de Wit, H. van Steeg, R. J. W. Berg, H. Morrreau, P. Visser, A. R. Lehmann, M. Duran, J. H. J. Hoeijmakers, and G. Weeda. 1998. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol. Cell 1:981–990.
   PubMedGoogle Scholar
• Evans, E., Fellows J., Coffer A., and Wood R. D.. 1997. Open complex formation around a lesion during nucleotide excision repair provides a structure for cleavage by human XPG protein. EMBO J. 16:625–638.
   PubMed Web of Science ®Google Scholar
• Evans, E., Moogs J. G., Hwang J. R., Egly J. M., and Wood R. D.. 1997. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J. 16:6559–6573.
   PubMed Web of Science ®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
• Hamel, B. C. J., A. Raams, A. R. Shuitema-Dijkstra, P. Simons, I. van der Burgt, N. G. J. Jaspers, and W. J. Kleijer. 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., Matsuda Y., Shiomi N., and Shiomi T.. 1995. Complementary DNA sequence and chromosomal localization of xpg, the mouse counterpart of human repair gene XPG/ERCC5. Genomics 28:59–65.
   PubMedGoogle Scholar
• Harada, Y.-N., Shiomi N., Koike M., Ikawa M., Okabe M., Hirota S., Kitamura Y., Kitagawa M., Matsunaga T., Nikaido O., and Shiomi T.. 1999. Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. Mol. Cell. Biol. 19:2366–2372.
   PubMed Web of Science ®Google Scholar
• Harrington, J. J., and Lieber M. R.. 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
• Kito, S., Noguchi Y., Ohta Y., Ohhata T., Abe M., Shiomi N., and Shiomi T.. 2003. Evaluation of developmental competence of vitrified-warmed early cleavage stage embryos and their application for chimeric mouse production. Exp. Anim. 52:179–183.
   PubMedGoogle Scholar
• Lee, S. K., Yu S. L., Prakash L., and Prakash S.. 2002. Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription: implications for Cockayne syndrome. Cell 109:823–834.
   PubMedGoogle 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
• Le Page, F., E. E. Kwoh, A. Avrutskaya, A. Gentil, S. A. Leadon, A. Sarasin, and P. K. Cooper. 2000. Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell 101:159–171.
   PubMedGoogle Scholar
• Lyamichev, V., Brow M. A. D., and Dahlberg J. E.. 1993. Structure-specific endonucleolytic cleavage of nucleic acids by eubacterial polymerases. Science 260:778–783.
   PubMedGoogle Scholar
• Masutani, C., Kusumoto R., Yamada A., Dohmae N., Yokoi M., Yuasa M., Araki M., Iwai S., Takio K., and Hanaoka F.. 1999. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η. Nature 399:700–704.
   PubMed Web of Science ®Google Scholar
• Matsunaga, T., Mu D., Park C. H., Reardon J. T., and Sancar A.. 1995. Human DNA repair excision nuclease: analysis of the roles of the subunits involved in dual incision by using anti-XPG and anti-ERCC1 antibodies. J. Biol. Chem. 270:20862–20869.
   PubMedGoogle Scholar
• Matsunaga, T., Park C. H., Bessho T., Mu D., and Sancar A.. 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
• Mori, T., Nakane M., Hattori T., Matsunaga T., Ihara M., and Nikaido O.. 1991. Simultaneous establishment of monoclonal antibodies specific for either cyclobutane pyrimidine dimmer or (6-4)photoproduct from the same mouse immunized with ultraviolet-irradiated DNA. Photochem. Photobiol. 54:225–232.
   PubMed Web of Science ®Google Scholar
• Moriwaki, S.-I., Stefanini M., Lehmann A. R., Hoeijmakers J. H. J., Robins J. H., Rapin I., Botta E., Tanganelli B., Vermeulen W., Broughton B. C., and Kraemer K. H.. 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., Hsu D. S., and Sancar A.. 1996. Replication mechanism of human DNA repair excision nuclease. J. Biol. Chem. 271:8285–8294.
   PubMed Web of Science ®Google Scholar
• Nance, M. A., and Berry S. A.. 1992. Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42:68–84.
   PubMed Web of Science ®Google Scholar
• Nouspikel, T., Lalle P., Leadon S. A., Cooper P. K., and Clarkson S. G.. 1997. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc. Natl. Acad. Sci. USA 94:3116–3121.
   PubMedGoogle Scholar
• O'Donnovan, A., A. A. Davis, J. G. Moggs, S. C. West, and R. D. Wood. 1994. XPG endonuclease makes the 3′ incision in human DNA nucleotide excision repair. Nature 371:432–435.
   PubMedGoogle Scholar
• Oui, H., Park E., Prakash L., and Prakash S.. 1993. The Saccharomyces cerevisiae DNA repair gene RAD25 is required for transcription by RNA polymerase II. Genes Dev. 7:2161–2171.
   PubMedGoogle Scholar
• Shiomi, T., Harada Y.-N., Saito T., Shiomi N., Okuno Y., and Yamaizumi M.. 1994. An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. Mutat. Res. 314:167–175.
   PubMedGoogle Scholar
• Thompson, L. H. 1998. Nucleotide excision repair: its relation to human disease, p. 335–393. In Nickoloff J. A. and Hoekstra M. F. (ed.), DNA damage and repair: DNA repair in higher eukaryotes. Humana Press, Totowa, N.J.
   Google Scholar
• Tirode, F., Busso D., Coin F., and Egly J. M.. 1999. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunit, XPB, XPD, and cdk7. Mol. Cell 3:87–95.
   PubMed Web of Science ®Google Scholar
• Van Gool, A. J., G. T. J. van der Horst, E. Citterio, and J. H. J. Hoeijimakers. 1997. Cockayne syndrome: defective repair of transcription? EMBO J. 16:4155–4162.
   PubMedGoogle Scholar
• Vermeulen, W., Jaeken J., Jaspers N. G., Bootsma D., and Hoeijmakers J. H. J.. 1993. Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am. J. Hum. Genet. 53:185–192.
   PubMedGoogle Scholar
• Vermeulen, W., Scott R. J., Rodgers S., Muller H. J., Cole J., Arlett C. F., Kleijer W. J., Bootsma D., Hoeijmakers J. H. J., and Weeda G.. 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
• Wakasugi, M., Reardon J. T., and Sancar A.. 1997. The noncatalytic function of XPG protein during dual incision in human nucleotide excision repair. J. Biol. Chem. 272:16030–16034.
   PubMedGoogle Scholar