Abstract
The histo-blood group ABO, the major human alloantigen system, involves three carbohydrate antigens (ABH). A, B and AB individuals express glycosyltransferase activities converting the H antigen into A or B antigens, whereas 0(H) individuals lack such activity. Here we present a molecular basis for the ABO genotypes. The A and B genes differ in a few single-base substitutions, changing four amino-acid residues that may cause differences in A and B transferase specificity. A critical single-base deletion was found in the 0 gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.
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References
Landsteiner, K. Zentbl. Bakt. Parasitkde (Abt.) 27, 357–363 (1900).
Clausen, H. & Hakomori, S. Vox Sang. 56, 1–20 (1989).
Hakomori, S. Am. J. clin. Path. 82, 635–648 (1984).
Oriol, R., Le Pendu, J. & Mollicone, R. Vox Sang. 51, 161–171 (1986).
Kabat, E. A. in Carbohydrates in Solution. Adv. Chemistry Series, Vol. 117, 334–361 (American Chemical Society, Washington, DC 1973).
Morgan, W. T. J. & Watkins, W. M. Br. Med. Bull. 25, 30–34 (1969).
Watkins, W. M. in: Advances in Human Genetics Vol. 10 (eds Harris, H. & Hirschhorn, K.) 1–136 (Plenum, New York, 1980).
Watkins, W. M. & Morgan, W. T. J. Vox Sang. 4, 97–119 (1959).
Tuppy, H. & Staudenbauer, Z. Nature 210, 316–317 (1966).
Ginsburg, V. Adv. Enzym. 36, 131–149 (1972).
Race, C., Ziderman, D. & Watkins, W. M. Biochem. J. 107, 733–735 (1968).
von Dungern, E. & Hirszfeld, L. Z. Immunitatsforsch. 8, 526–562 (1911).
Bernstein, F. Klin. Wschr. 3, 1495–1497 (1924).
Yates, A. D., Feeney, J., Donald, A. S. R. & Watkins, W. M. Carbohyd. Res. 130, 251–260 (1984).
Yates, A. D. & Watkins, W. M. Biochem. biophys. Res. Commun 109, 958–965 (1982).
Cook, G. A., Greenwell, P. & Watkins, W. M. Biochem. Soc. Trans. 10, 446–447 (1982).
Yoshida, A., Yamaguchi, Y. F. & Davi, V. Blood 54, 344–350 (1979).
White, T. et al. Biochemistry 29, 2740–2747 (1990).
Greenwell, P., Edwards, Y. H., Williams, J. & Watkins, W. M. Biochem. Soc. Trans. 15, 601–603 (1987).
Clausen, H. et al. J. biol. Chem. 265, 1139–1145 (1990).
Navaratnam, N. & Watkins, W. M. in: Proc. Xth Intl Symp. on Glycoconjugates (eds Sharon, N., Lis. H., Duksin, D. & Kahane, I.) 225–226 (Jerusalem, Israel, 1989).
Yamamoto, F. et al. J. biol. Chem. 265, 1146–1151 (1990).
Narimatsu, H., Sinha, S., Brew, K., Okayama, H. & Qasba, P. K. Proc. natn. Acad. Sci. U.S.A. 83, 4720–4724 (1986).
Nakazawa, K., Ando, T., Kimura, T. & Narimatsu, H. J. Biochem. Tokyo 104, 165–168 (1988).
Paulson, J. C. & Colley, K. J. J. biol. Chem. 264, 17615–17618 (1989).
Saiki, R. K. et al. Science 230, 1350–1354 (1985).
Maniatis, T., Fritsch, E. F. and Sambrook, J. Molecular Cloning: A Laboratory Manual 2nd edn (Cold Spring Harbor Laboratory, New York. 1989).
Schachter, H., Michaels, M. A., Tilley, C. A., Crookston, M. C. & Crookston, J. H. Proc. natn. Acad. Sci. U.S.A. 70, 220–224 (1973).
Clausen, H., Levery, S. B., Nudelman, E., Tsuchiya, S. & Hakomori, S. Proc. natn. Acad. Sci. U.S.A. 82, 1199–1203 (1985).
Kobata, A., Grollman, E. F. & Ginsburg, C. Biochem. biophys. Res. Commun. 32, 272–277 (1969).
Schwyzer, M. & Hill, R. L. J. biol. Chem. 252, 2338–2345 (1977).
Ernst, L. K., Rajan, V. P., Larsen, R. D., Ruff, M. M. & Lowe, J.B. J. biol. Chem. 264, 3436–3447 (1989).
Clausen, H., Hakomori, S., Graem, N. & Dabelsteen, E. J. Immun. 136, 326–330 (1986).
Metoki, R. et al. J. natn. Cancer Inst. 81, 1151–1157 (1989).
Mourant, A. E., Kopec, A. C. & Domaniewska-Sobczak, K. Blood Groups and Diseases: A Study of Associations of Diseases with Blood Groups and Other Polymorphisms (Oxford University Press, 1978).
Sanger, F., Milen, S. & Coulson, A. R. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
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Yamamoto, Fi., Clausen, H., White, T. et al. Molecular genetic basis of the histo-blood group ABO system. Nature 345, 229–233 (1990). https://doi.org/10.1038/345229a0
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DOI: https://doi.org/10.1038/345229a0
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