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ABO blood group is a trans-species polymorphism in primates

by Ross, Steve , Venkat, Aarti , Margulis, Susan W , Flutre, Timothée , Ober, Carole , Gamble, Kathryn , Lovstad, Jessica , Sella, Guy , Thompson, Emma E , Przeworski, Molly , Moyse, Jill , Ségurel, Laure

in 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 diversity / 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

2012

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2012

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2012

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Journal Article

ABO blood group is a trans-species polymorphism in primates

Ross, Steve,

Venkat, Aarti,

Margulis, Susan W,

Flutre, Timothée,

Ober, Carole,

Gamble, Kathryn,

Lovstad, Jessica,

Sella, Guy,

Thompson, Emma E,

Przeworski, Molly,

Moyse, Jill,

Ségurel, Laure

2012

Overview

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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Publisher

National Academy of Sciences,National Acad Sciences

Subject

ABO Blood-Group System - genetics

/ Agricultural sciences

/ Alleles

/ Amino acids

/ Animals

/ Antigens

/ Biological Sciences