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Edited by Marcus W. Feldman, Stanford University, Stanford, CA, and accepted by the Editorial Board September 12, 2012 (received for review June 22, 2012)
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.
Footnotes
↵1L.S. and E.E.T. contributed equally to this work.
- ↵2To whom correspondence may be addressed. E-mail: lsegurel{at}uchicago.edu, c-ober{at}genetics.uchicago.edu, or mfp{at}uchicago.edu.
↵3Present address: Animal Behavior, Ecology and Conservation, Canisius College, Buffalo, NY 14208.
↵4C.O. and M.P. contributed equally to this work.
Author contributions: L.S., E.E.T., G.S., C.O., and M.P. designed research; L.S., E.E.T., and J.L. performed research; S.W.M., J.M., S.R., and K.G. contributed new reagents/analytic tools; L.S., E.E.T., T.F., A.V., G.S., and M.P. analyzed data; and L.S., G.S., C.O., and M.P. wrote the paper.
The authors declare no conflict of interest.
This article is a PNAS Direct Submission. M.W.F. is a guest editor invited by the Editorial Board.
Data deposition: The sequences reported in this paper have been deposited in the GenBank database (accession nos. JQ857042–JQ857076).
This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1210603109/-/DCSupplemental.
ABO is a trans-species polymorphism in primates
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