Blood ties: ABO is a trans-species polymorphism in primates

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 s...

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Bibliographic Details
Published in:arXiv.org 2012-08
Main Authors: Ségurel, Laure, Thompson, Emma E, Flutre, Timothée, Lovstad, Jessica, Venkat, Aarti, Margulis, Susan W, Moyse, Jill, Ross, Steve, Gamble, Kathryn, Sella, Guy, Ober, Carole, Przeworski, Molly
Format: Article
Language:English
Subjects:
Antigens
Biological evolution
Blood groups
Convergence
Evolution
Incompatibility
Monkeys
Monkeys & apes
Polymorphism
Primates
Transfusion
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Summary: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, multi-allelic polymorphism of which some alleles are shared by descent among species. These results demonstrate that the ABO polymorphism is 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.
ISSN:2331-8422
DOI:10.48550/arxiv.1208.4613