8 research outputs found
A novel variant in CMAH is associated with blood type AB in Ragdoll cats
Citation: Gandolfi, B., Grahn, R. A., Gustafson, N. A., Proverbio, D., Spada, E., Adhikari, B., . . . Helps, C. R. (2016). A novel variant in CMAH is associated with blood type AB in Ragdoll cats. Plos One, 11(5). doi:10.1371/journal.pone.0154973The 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. © 2016 Gandolfi et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Domestic cats with known blood type serology genotyped for the c.364C>T variant in <i>CMAH</i> exon 4.
Domestic cats with known blood type serology genotyped for the c.364C>T variant in CMAH exon 4.</p
Multidimensional scaling and Manhattan plot summarizing the GWAS for Ragdoll cats with blood type AB.
a. MDS showing the distribution of the Ragdoll cases and controls included in the analyses. Significant overlap of cases and controls suggests minimal substructuring in the dataset. b. The plot represents the Praw (top) and Pgenome (bottom) values of the SNPs included in the GWAS case–control analysis. The black dashed line (bottom) suggests the SNPs with genome-wide significance after permutation. Two SNPs on chromosome B2 (positions 4,487,432 and 4,449,822, respectively) remained significantly associated with the AB blood type phenotype.</p
Correction: A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats.
[This corrects the article DOI: 10.1371/journal.pone.0154973.]
Comparison of <i>CMAH</i> cDNA variants in cats with blood types A, B and AB.
Comparison of CMAH cDNA variants in cats with blood types A, B and AB.</p
Frequency of the <i>CMAH</i> c.364C>T polymorphism in different cat breeds with unknown serology.
Frequency of the CMAH c.364C>T polymorphism in different cat breeds with unknown serology.</p
A Novel Variant in <i>CMAH</i> Is Associated with Blood Type AB in Ragdoll Cats
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.</div
