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.Comment: 45 pages, 4 Figures, 4 Supplementary Figures, 5 Supplementary Table
