Yamamoto, FumiichiroCid, EmiliYamamoto, MiyakoSaitou, NaruyaBertranpetit, Jaume, 1952-Blancher, Antoine2019-03-192019-03-192014Yamamoto F, Cid E, Yamamoto M, Saitou N, Bertranpetit J, Blancher A. An integrative evolution theory of histo-blood group ABO and related genes. Sci Rep. 2014;4:6601. DOI: 10.1038/srep066012045-2322http://hdl.handle.net/10230/36863The 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.application/pdfeng© The authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder in order to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/srep06601Evolutionary biologyGlycobiologyImmunogeneticsinfo:eu-repo/semantics/openAccess