Abstract
Complementation of DNA excision repair defect in xeroderma pigmentosum cells of group C (XP-C) has been achieved by the transfer of human chromosome 5. Individual human chromosomes tagged with a selectable marker were transferred to XP-C cells by microcell fusion from mouse-human hybrid cell lines each bearing a single different human chromosome. Analysis of the chromosome transfer clones revealed that introduction of chromosome 5 into XP-C cells corrected the DNA repair defect as well as UV-sensitive phenotypes, while chromosomes 2, 6, 7, 9, 13, 15, 17, and 21 failed to complement. The introduced chromosome 5 in complemented UVr clones was distinguished from the parental XP-C chromosomes by polymorphism for dinucleotide (CA)n repeats at two loci, D5S117 and D5S209. In addition, an intact marked chromosome 5 was rescued into mouse cells from a complemented UVr clone by microcell fusion. Five subclones of a complemented clone that had lost the marked chromosome 5 exhibited UV-sensitive and repair-deficient phenotypes identical to parental XP-C cells. Concordant loss of the transferred chromosome and reappearance of XP-C phenotype further confirmed the presence of a DNA repair gene on human chromosome 5.
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Literature cited
Cleaver, J.E., and Kraemer, K.H. (1989). InThe Metabolic Basis of Inherited Disease (eds.) Scriver C.R., Beaudet, A.L., Sly, W.S., Valle, D. (McGraw-Hill, New York), pp. 2949–2971.
Cleaver, J.E., and Bootsma, D. (1975).Annu. Rev. Genet. 919–38.
Vermeulen, W., Stefanini, M., Giliani, S., Hoeijmakers, J.H.J., and Bootsma, D. (1991).Mutat. Res. 255201–208.
Kantor, G.J., and Hull, D.R. (1984).Mutat. Res. 13221–31.
Kantor, G.J., Barsalou, L.S., and Hanawalt, P.C. (1990).Mutat. Res. 235171–180.
Venema, J., van Hoffen, A., Natarajan, A.T., van Zeeland, A.A., and Mullenders, L.H.F. (1990).Nucleic Acids Res. 18443–448.
Venema, J., van Hoffen, A., Karcagi, V., Natarajan, A.T., van Zeeland, A.A., and Mullenders, L.H.F. (1991).Mol. Cell. Biol. 114128–4134.
Thompson, L.H. (1989).Environ. Mol. Mutagen. 14264–281.
Bootsma, D., and Hoeijmakers, J.H.J. (1991).Ann. Genet. 34143–150.
Tanaka, K., Satokata, I., Ogita, Z., Uchida, T., and Okada, Y. (1989).Proc. Natl. Acad. Sci. U.S.A. 865512–5516.
Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M.C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., and Okada, Y. (1990).Nature 34873–76.
Teitz, T., Naiman, T., Avissar, S.S., Bar, S., Okayama, H., and Canani, D. (1987).Proc. Natl. Acad. Sci. U.S.A. 848801–8804.
Teitz, T., Penner, M., Eli, D., Stark, M., Bakhanashvili, M., Naiman, T., and Canani, D. (1990).Gene 87295–298.
Weeda, G., van Ham, R.C.A., Vermeulen, W., Bootsma, D., vander Eb, A., and Hoeijmakers, J.H.J. (1990).Cell 62777–791.
Flejter, W.L., McDaniel, L.D., Johns, D., Friedberg, E.C., and Schultz, R.A. (1992).Proc. Natl. Acad. Sci. U.S.A. 89261–265.
Bootsma, D., Weeda, G., Troelstra, C., and Hoejmakers, J.M.J. (1991).Am. J. Hum. Genet. 49(4, Suppl):60.
Schultz, R.A., Saxon, P.J., Glover, T.W., and Friedberg, E.C. (1987).Proc. Natl. Acad. Sci. U.S.A. 844176–4179.
Kaur, G.P., and Athwal, R.S. (1989).Proc. Natl. Acad. Sci. U.S.A. 868872–8876.
Ishizaki, K., Oshimura, M., Sasaki, M.S., Nakamura, Y., and Ikenaga, M. (1990).Mutat. Res. 235209–215.
Saxon, P.J., Schultz, R.A., Stanbridge, E.J., and Friedberg, E.C. (1989).Am. J. Hum. Genet. 44474–485.
Lambert, C.M., Schultz, R.A., Smith, M., Wagner-McPherson, C., McDaniel, L.D., Donlon, T., Stanbridge, E.J., and Freidberg, E.C. (1991).Proc. Natl. Acad. Sci. U.S.A. 885907–5911.
Jeggo, P.A., Hafezparast, M., Thompson, A.F., Broughton, B.C., Kaur, G.P., Zdzienicka, Z., and Athwal, R.S. (1992).Proc. Natl. Acad. Sci. U.S.A. 896423–6427.
Athwal, R.S., Smarsh, M., Searle, B.M., and Deo, S.S. (1985).Somat. Cell Mol. Genet. 11177–187.
Daya-Grosjean, L., James, M.R., Drougard, C., and Sarasin, A. (1987).Mutat. Res. 183185–196.
Cleaver, J.E., and Thomas, G.H. (1988).J. Invest. Dermatol. 90467–471.
Cleaver, J.E. (1990).Carcinogenesis 11875–882.
Day, R.S., III (1974).Cancer Res. 341965–1970.
Maniatus, T., Fritsch, E.F., and Sambrook, J. (1982).Molecular Cloning, A Laboratory Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, New York).
Melton, D.A., Kreig, P.A., Rebagliati, M.R., Maniatus, T., Zinn, K., and Green, M.R. (1984).Nucleic Acids Res. 127035–7056.
Wilusz, J., and Shenk, T. (1988).Cell 52221–228.
Cleaver, J.E., and Thomas, G.E. (1981). InDNA Repair. (eds.) Friedberg, E.C., and Hanawalt, P.C. (Marcel Dekker, New York). pp. 277–287.
Weber, J.L., Kwitek, A.E., and May, P.E. (1990).Nucleic Acids Res. 184035.
Weber, J.L., Polymeropoulos, M.H., May, P.E., Kwitek, A.E., Xiao, H., McPherson, J.D., and Wasmuth, J.J. (1991).Genomics 11695–700.
Sancar, A., and Sancar, G.B. (1988).Annu. Rev. Biochem. 5729–67.
Teitz, T., Eli, D., Penner, M., Bakhanashvili, M., Naiman, T., Timme, T.L., Wood, C.M., Moses, R.E., and Canaani, D. (1990).Mutat. Res. 23685–97.
Rinaldy, A., Bellew, T., Egli, E., and Lloyd, R.S. (1990).Proc. Natl. Acad. Sci. U.S.A. 876818–6822.
Kaur, G.P., Rinaldy, A., Lloyd, R.S., and Athwal, R.S. (1992).Somat. Cell Mol. Genet. 18371–379.
Lambert, W.C., and Lambert, M.W. (1985).Mutat. Res. 145227–234.
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Kaur, G.P., Athwal, R.S. Complementation of DNA repair defect in xeroderma pigmentosum cells of group C by the transfer of human chromosome 5. Somat Cell Mol Genet 19, 83–93 (1993). https://doi.org/10.1007/BF01233957
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DOI: https://doi.org/10.1007/BF01233957