ABO blood group 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...

Full description

Saved in:
Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 2012-11, Vol.109 (45), p.18493-18498
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:
ABO Blood-Group System - genetics
Agricultural sciences
Alleles
amino acids
Animals
Antigens
Biological Sciences
Blood grouping
Blood groups
Cercopithecidae
Cercopithecidae - genetics
Chimpanzees
convergent evolution
Evolution
Evolution, Molecular
Evolutionary genetics
Exons - genetics
genetic polymorphism
genetic variation
Genetics
Genotype
Hominidae
Humans
Hylobatidae
Life Sciences
major histocompatibility complex
Models, Genetic
Molecular Sequence Data
Monkeys
Monkeys & apes
Phenotype
Phylogeny
Polymorphism
Polymorphism, Genetic
Primates
Primates - genetics
Species Specificity
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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, 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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.1210603109