Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 109, Issue 45, Pages 18493-18498Publisher
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1210603109
Keywords
natural selection; balanced polymorphism; population genetics
Categories
Funding
- 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]
- [K12 HL090003]
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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.
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