title: Molecular genetic basis of the histo-blood group ABO system.
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 O(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 O gene, which results in an entirely different, inactive protein incapable of modifying the H antigen.
authors.affiliation: Biomembrane Institute, Seattle, Washington.
authors.forename: F
authors.initials: F
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Clausen
authors.forename: T
authors.initials: T
authors.lastname: White
authors.forename: J
authors.initials: J
authors.lastname: Marken
authors.forename: S
authors.initials: S
authors.lastname: Hakomori
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002240:Carbohydrate Sequence; D002460:Cell Line; D004247:DNA / Q000235:genetics; D015723:Gene Library; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic
chemical_list: D000017:ABO Blood-Group System; D004247:DNA