title: An integrative evolution theory of histo-blood group ABO and related genes.
abstract: 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.
authors.affiliation: ABO Histo-blood Groups and Cancer Laboratory, Cancer Genetics and Epigenetics Program, Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC), Campus Can Ruti, Badalona, Catalonia, Spain.
authors.forename: Fumiichiro
authors.initials: F
authors.lastname: Yamamoto
authors.affiliation: ABO Histo-blood Groups and Cancer Laboratory, Cancer Genetics and Epigenetics Program, Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC), Campus Can Ruti, Badalona, Catalonia, Spain.
authors.forename: Emili
authors.initials: E
authors.lastname: Cid
authors.affiliation: ABO Histo-blood Groups and Cancer Laboratory, Cancer Genetics and Epigenetics Program, Institut de Medicina Predictiva i Personalitzada del Càncer (IMPPC), Campus Can Ruti, Badalona, Catalonia, Spain.
authors.forename: Miyako
authors.initials: M
authors.lastname: Yamamoto
authors.affiliation: Division of Population Genetics, National Institute of Genetics, Mishima, Japan.
authors.forename: Naruya
authors.initials: N
authors.lastname: Saitou
authors.affiliation: IBE - Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.affiliation: Laboratoire d'Immunogénétique Moléculaire (LIMT, EA3034), Faculté de Médecine Purpan, Université Paul Sabatier, (Université de Toulouse III), Toulouse, France.
authors.forename: Antoine
authors.initials: A
authors.lastname: Blancher
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence / Q000235:genetics; D000818:Animals; D019143:Evolution, Molecular; D016695:Glycosyltransferases / Q000235:genetics*; D010802:Phylogeny; D011110:Polymorphism, Genetic; D013045:Species Specificity
chemical_list: D000017:ABO Blood-Group System; D016695:Glycosyltransferases