1. The ABO blood group is a trans-species polymorphism in primates
- Author
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Carole Ober, Jessica N. Lovstad, Aarti Venkat, Molly Przeworski, Susan W. Margulis, Timothée Flutre, Emma E. Thompson, Jill A. Moyse, Guy Sella, Steve Ross, Kathryn C. Gamble, Laure Ségurel, Dept Human Genet, University of Chicago, Howard Hughes Med Inst, Unité de Recherche Génomique Info (URGI), Institut National de la Recherche Agronomique (INRA), Alexander Silberman Inst Life Sci, Dept Ecol Evolut & Behav, The Hebrew University of Jerusalem (HUJ), Dept Human Gene, Department of Ecology and Evolution [Chicago], National Institutes of Health-National Center for Research Resources [P51 RR013986], Rosalind Franklin award, Flegg fellowship, Israel Science Foundation [1492/10], [R01 GM72861], [R01 HD21244], and [K12 HL090003]
- Subjects
Primates ,balanced polymorphism ,SELECTION ,[SDV.SA]Life Sciences [q-bio]/Agricultural sciences ,0106 biological sciences ,Old World ,Genotype ,Molecular Sequence Data ,MODELS ,RECOMBINATION ,Biology ,Balancing selection ,010603 evolutionary biology ,01 natural sciences ,ABO Blood-Group System ,Evolution, Molecular ,03 medical and health sciences ,Species Specificity ,Phylogenetics ,Convergent evolution ,ABO blood group system ,GROUP GENES ,Genetic variation ,Animals ,HUMAN GENOME ,Allele ,Phylogeny ,030304 developmental biology ,Genetics ,0303 health sciences ,Polymorphism, Genetic ,Multidisciplinary ,Models, Genetic ,population genetics ,Cercopithecidae ,natural selection ,Exons ,Biological Sciences ,ALLELES ,EVOLUTION ,GROUP ANTIGENS ,Phenotype ,Evolutionary biology ,POPULATIONS ,SYSTEM - Abstract
The ABO histo-blood group, the critical determinant of transfusion incompatibility, was the first genetic polymorphism discovered in humans. Remarkably, ABO antigens are also polymorphic in many other primates, with the same two amino acid changes responsible for A and B specificity in all species sequenced to date. Whether this recurrence of A and B antigens is the result of an ancient polymorphism maintained across species or due to numerous, more recent instances of convergent evolution has been debated for decades, with a current consensus in support of convergent evolution. We show instead that genetic variation data in humans and gibbons as well as in Old World monkeys are inconsistent with a model of convergent evolution and support the hypothesis of an ancient, multiallelic polymorphism of which some alleles are shared by descent among species. These results demonstrate that the A and B blood groups result from a trans-species polymorphism among distantly related species and has remained under balancing selection for tens of millions of years—to date, the only such example in hominoids and Old World monkeys outside of the major histocompatibility complex.
- Published
- 2012