An integrative evolution theory of histo-blood group ABO and related genes

The ABO system is one of the most important blood group systems in transfusion/transplantation medicine. However, the evolutionary significance of the ABO gene and its polymorphism remained unknown. We took an integrative approach to gain insights into the significance of the evolutionary process of...

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Bibliographic Details
Published in:Scientific reports 2014-10, Vol.4 (1), p.6601-6601, Article 6601
Main Authors: Yamamoto, Fumiichiro, Cid, Emili, Yamamoto, Miyako, Saitou, Naruya, Bertranpetit, Jaume, Blancher, Antoine
Format: Article
Language:English
Subjects:
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ABO Blood-Group System - genetics
Alleles
Amino Acid Sequence - genetics
Amino acids
Animal species
Animals
Blood groups
Evolution
Evolution, Molecular
Evolutionary biology
Genes
Genetics
Glycobiology
Glycosyltransferases - genetics
Humanities and Social Sciences
Immunogenetics
multidisciplinary
Phylogeny
Polymorphism, Genetic
Science
Species Specificity
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Summary:The ABO system is one of the most important blood group systems in transfusion/transplantation medicine. However, the evolutionary significance of the ABO gene and its polymorphism remained unknown. We took an integrative approach to gain insights into the significance of the evolutionary process of ABO genes, including those related not only phylogenetically but also functionally. We experimentally created a code table correlating amino acid sequence motifs of the ABO gene-encoded glycosyltransferases with GalNAc (A)/galactose (B) specificity and assigned A/B specificity to individual ABO genes from various species thus going beyond the simple sequence comparison. Together with genome information and phylogenetic analyses, this assignment revealed early appearance of A and B gene sequences in evolution and potentially non-allelic presence of both gene sequences in some animal species. We argue: Evolution may have suppressed the establishment of two independent, functional A and B genes in most vertebrates and promoted A/B conversion through amino acid substitutions and/or recombination; A/B allelism should have existed in common ancestors of primates; and bacterial ABO genes evolved through horizontal and vertical gene transmission into 2 separate groups encoding glycosyltransferases with distinct sugar specificities.
ISSN:2045-2322
2045-2322
DOI:10.1038/srep06601