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. 2016 May 12;11(5):e0154973.
doi: 10.1371/journal.pone.0154973. eCollection 2016.

A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats

Barbara Gandolfi  1 , Robert A Grahn  2 , Nicholas A Gustafson  1 , Daniela Proverbio  3 , Eva Spada  3 , Badri Adhikari  4 , Janling Cheng  4 , Gordon Andrews  5 , Leslie A Lyons  1 , Chris R Helps  6
Affiliations

A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats

Barbara Gandolfi et al. PLoS One. .

Erratum in

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.

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Conflict of interest statement

Competing Interests: A patent is held by LAL and the University of California entitled “Test for determining the blood type in the cat,” Patent no. US 7,895,543 B2 that was awarded on July 26, 2011. The license to use the genetic test is available, as the patent is not exclusive. No royalties have been received by LAL from this patent. The University of California, Veterinary Genetics Laboratory has a license to run the genetic test for cat blood type B and has paid the license fee and yearly royalties. No patent is awarded or initiated for blood type AB. CH runs a service laboratory at Langford Veterinary Services, UK, which undertakes commercial genetic testing in cats (including genetic blood typing) as well as research. No non-USA license fee is required. RAG is an employee of the UC Davis, VGL. The UC Davis VGL provides research support to LAL, BG and RAG from genetic testing income. This does not alter the authors' adherence to PLOS ONE policies on sharing data and materials.

Figures

Fig 1
Fig 1. 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.
See this image and copyright information in PMC

References

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