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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
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).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/345229a0
This article is cited by
-
ABO blood types may affect transient neurological events after surgical revascularization in patients with moyamoya disease: a retrospective single center study
BMC Anesthesiology (2023)
-
Dominance mechanisms in supergene alleles controlling butterfly wing pattern variation: insights from gene expression in Heliconius numata
Heredity (2023)
-
Emergence of an erythroid cell-specific regulatory region in ABO intron 1 attributable to A- or B-antigen expression on erythrocytes in Hominoidea
Scientific Reports (2023)
-
Afterword (Editorial)
Glycoconjugate Journal (2023)
-
Using mid-infrared spectroscopy to increase GWAS power to detect QTL associated with blood urea nitrogen
Genetics Selection Evolution (2022)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.