Abstract
Certain rare human diseases with autosomal recessive mode of inheritance are associated with a greatly increased cancer frequency which may reflect specific defects in DNA repair or replication. These disorders include xeroderma pigmentosum, ataxia-telangiectasia, Fanconi's anaemia and Bloom's syndrome1. Cells from individuals with Bloom's syndrome2 usually grow slowly in culture and exhibit increased chromosomal breakage and rearrangement, an elevated frequency of sister chromatid exchanges, retarded rates of progression of DNA replication forks, delayed conversion of replication intermediates to high-molecular-weight DNA, and slightly increased sensitivity to DNA-damaging agents3–11. Several of these features are also characteristic of Escherichia coli and yeast mutants with a defective DNA ligase12–22. In this investigation we show that one of the two DNA ligases of human cells, ligase I, is defective in a representative lymphoid cell line of Bloom's syndrome origin.
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References
Friedberg, E. C. DNA Repair, 505–574 (Freeman, New York, 1985).
German, J., Bloom, D. & Passarge, E. Clin. Genet 25, 166–174 (1984).
German, J., Archibald, R. & Bloom, D. Science 148, 506–507 (1965).
Chaganti, R. S. K., Schonberg, S. & German, J. Proc. natn. Acad. Sci. U.S.A. 71, 4508–4512 (1974).
Hand, R. & German, J. Proc. natn. Acad. Sd U.S.A. 72, 758–762 (1975).
Krepinsky, A. B., Heddle, J. A. & German, J. Hum. Genet. 50, 151–156 (1979).
Giannelli, F., Benson, P. F., Pawsey, S. A. & Polani, P. E. Nature 265, 466–469 (1977).
Kapp, L. N. Biochim. biophys. Acta 696, 226–227 (1982).
Ockey, C. H. & Saffhill, R. Carcinogenesis 7, 53–57 (1986).
Zbinden, I. & Cerutti, P. Biochem. biophys. Res. Commun. 98, 579–587 (1981).
Aurias, A. et al. Cancer Genet Cytogenet. 16, 131–136 (1985).
Gellert, M. & Bullock, M. L. Proc. natn. Acad. Sci. U.S.A. 67, 1580–1587 (1970).
Gottesman, M. M., Hicks, M. L. & Gellert, M. J. molec. Biol. 77, 531–547 (1973).
Pauling, C. & Hamm, L. Proc. natn. Acad. Sci. U.S.A. 64, 1195–1202 (1969).
Morse, L. S. & Pauling, C. Proc. natn. Acad. Sci. U.S.A. 72, 4645–4649 (1975).
Konrad, E. B., Modrich, P. & Lehman, I. R. J. molec. Biol. 77, 519–529 (1973).
Konrad, E. B. J. Bact. 130, 167–172 (1977).
Nasmyth, K. A. Cell 12, 1109–1120 (1977).
Nasmyth, K. A. J. molec. Biol. 130, 273–284 (1979).
Johnston, L. H. & Nasmyth, K. A. Nature 274, 891–893 (1978).
Moore, C. W. J. Bact. 150, 1227–1233 (1982).
Barker, D. G., Johnson, A. L. & Johnston, L. H. Molec. gen. Genet. 200, 458–462 (1985).
Soderhall, S. & Lindahl, T. J. biol. Chem. 250, 8438–8444 (1975).
Soderhall, S. & Lindahl, T. FEBS Lett. 67, 1–8 (1976).
Soderhall, S. Nature 260, 640–642 (1976).
Teraoka, H. & Tsukada, K. J. biol. Chem. 260, 2937–2940 (1985).
Teraoka, H., Sumikawa, T. & Tsukada, K. J. biol. Chem. 261, 6888–6892 (1986).
Chan, J. Y. H. & Becker, F. F. Carcinogenesis 6, 1275–1277 (1985).
Arrand, J. E., Willis, A. E., Goldsmith, I. & Lindahl, T. J. biol. Chem. 261, 9079–9082 (1986).
Olivera, B. M. & Lehman, I. R. Proc. natn. Acad. Sci. U.S.A. 57, 1426–1433 (1967).
Chan, J. Y. H., Becker, F. F., German, J. & Ray, J. H. Nature (in the press).
Hashimoto, T. et al. Basic Life Sci. 29, 765–774 (1984).
Shiraishi, Y., Yosida, T. H. & Sandberg, A. A. Proc. natn. Acad. Sci. U.S.A. 82, 5102–5106 (1985).
Brothman, A. R., Scott Cram, L., Bartholdi, M. F. & Kraemer, P. M. Cancer Res. 46, 791–797 (1986).
Kenne, K. & Ljungquist, S. Nucleic Acids Res. 12, 3057–3068 (1984).
Parker, V. P. & Lieberman, M. W. Nucleic Acids Res. 4, 2029–2037 (1977).
Spanos, A., Holliday, R. & German, J. Hum. Genet. 73, 119–122 (1986).
Emerit, I. & Cerutti, P. Proc. natn. Acad. Sci. U.S.A. 78, 1868–1872 (1981).
Bamezai, R. & Shiraishi, Y. Exp. Cell Res. 164, 163–173 (1986).
Gupta, P. K. & Sirover, M. A. Proc. natn. Acad. Sci. U.S.A. 81, 757–761 (1984).
Kim, S. et al. Mutat. Res. 173, 141–145 (1986).
Dehazya, P. & Sirover, M. A. Cancer Res. 46, 3756–3761 (1986).
Alberts, B. & Herrick, G. Meth. Enzym. 21D, 198–217 (1971).
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Willis, A., Lindahl, T. DNA ligase I deficiency in Bloom's syndrome. Nature 325, 355–357 (1987). https://doi.org/10.1038/325355a0
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DOI: https://doi.org/10.1038/325355a0
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