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Molecular genetic basis of the histo-blood group ABO system

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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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Authors and Affiliations

  1. The Biomembrane Institute and University of Washington, 201 Elliott Avenue W., Seattle, Washington, 98119, USA

    Fumi-ichiro Yamamoto, Henrik Clausen, Thayer White, John Marken & Sen-itiroh Hakomori

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  1. Fumi-ichiro Yamamoto
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  2. Henrik Clausen
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  3. Thayer White
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  4. John Marken
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  5. Sen-itiroh Hakomori
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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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