title: A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats.
abstract: The enzyme cytidine monophospho-N-acetylneuraminic acid hydroxylase is associated with the production of sialic acids on cat red blood cells. The cat has one major blood group with three serotypes; the most common blood type A being dominant to type B. A third rare blood type is known as AB and has an unclear mode of inheritance. Cat blood type antigens are defined, with N-glycolylneuraminic acid being associated with type A and N-acetylneuraminic acid with type B. Blood type AB is serologically characterized by agglutination using typing reagents directed against both A and B epitopes. While a genetic characterization of blood type B has been achieved, the rare type AB serotype remains genetically uncharacterized. A genome-wide association study in Ragdoll cats (22 cases and 15 controls) detected a significant association between blood type AB and SNPs on cat chromosome B2, with the most highly associated SNP being at position 4,487,432 near the candidate gene cytidine monophospho-N-acetylneuraminic acid hydroxylase. A novel variant, c.364C>T, was identified that is highly associated with blood type AB in Ragdoll cats and, to a lesser degree, with type AB in random bred cats. The newly identified variant is probably linked with blood type AB in Ragdoll cats, and is associated with the expression of both antigens (N-glycolylneuraminic acid and N-acetylneuraminic acid) on the red blood cell membrane. Other variants, not identified by this work, are likely to be associated with blood type AB in other breeds of cat.
authors.affiliation: Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri-Columbia, Columbia, Missouri, 65211, United States of America.
authors.forename: Barbara
authors.initials: B
authors.lastname: Gandolfi
authors.affiliation: Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California Davis, Davis, California, 95616, United States of America.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Grahn
authors.affiliation: Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri-Columbia, Columbia, Missouri, 65211, United States of America.
authors.forename: Nicholas A
authors.initials: NA
authors.lastname: Gustafson
authors.affiliation: Veterinary Transfusion Unit (REV), Department of Health, Animal Science and Food Safety (VESPA), University of Milan, 20133, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Proverbio
authors.affiliation: Veterinary Transfusion Unit (REV), Department of Health, Animal Science and Food Safety (VESPA), University of Milan, 20133, Milan, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Spada
authors.affiliation: Department of Computer Science, Informatics Institute, University of Missouri-Columbia, Columbia, Missouri, 65211, United States of America.
authors.forename: Badri
authors.initials: B
authors.lastname: Adhikari
authors.affiliation: Department of Computer Science, Informatics Institute, University of Missouri-Columbia, Columbia, Missouri, 65211, United States of America.
authors.forename: Janling
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Diagnostic Service/Pathobiology, College of Veterinary Medicine, Kansas State University, Manhattan, Kansas, 66506, United States of America.
authors.forename: Gordon
authors.initials: G
authors.lastname: Andrews
authors.affiliation: Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri-Columbia, Columbia, Missouri, 65211, United States of America.
authors.forename: Leslie A
authors.initials: LA
authors.lastname: Lyons
authors.affiliation: Langford Veterinary Services, University of Bristol, Bristol, BS40 5DU, United Kingdom.
authors.forename: Chris R
authors.initials: CR
authors.lastname: Helps
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000818:Animals; D002415:Cats; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D016678:Genome / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006899:Mixed Function Oxygenases / Q000737:chemistry / Q000235:genetics*; D008958:Models, Molecular; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D000017:ABO Blood-Group System; D018076:DNA, Complementary; D006899:Mixed Function Oxygenases; C074383:CMPacetylneuraminate monooxygenase