# CMAH Coding Sequence Variants in 15 Non-Domestic Felid Species Related to ABC Blood Group System

**Authors:** Alexandra Kehl, Henrike Kuder, Lily Parkinson, Amie Koenig, Ines Langbein-Detsch, Elisabeth Mueller, Urs Giger

PMC · DOI: 10.3390/ani14162442 · Animals : an Open Access Journal from MDPI · 2024-08-22

## TL;DR

This study explores genetic variations in wild cats related to blood types, finding a specific gene variant linked to certain blood types in cheetahs and cougars.

## Contribution

The study identifies a CMAH gene variant (c.635G>C) associated with ABC blood types B and C in wild felids, which was previously undetectable using domestic cat markers.

## Key findings

- A CMAH variant (c.635G>C) was found to correlate with blood type B (and C) in cheetahs and cougars.
- 58 CMAH variants were identified, including 15 that change the protein sequence.
- All other wild cat species tested had blood type A, except cheetahs and cougars.

## Abstract

Humans and other mammals have different blood group systems. In domestic cats, the ABC blood group system is the most important and has been studied a lot, from the physical traits to the genetic level. For wild cats (non-domestic felids), tests have been conducted to identify blood types using different methods, but the genetic markers used in domestic cats could not identify blood types B and C (AB) in wild cats. In this study, the CMAH gene of 138 blood samples from 15 wild cat species was sequenced to see if certain genetic variants matched with the ABC blood types. A total of 58 different genetic variants were found, including 15 causing changes in the protein sequence. One variant (c.635G>C) was linked with blood type B (and C) in cheetahs and blood type B in cougars. Since cheetahs and cougars are part of the same genera puma, it is unclear whether this variant is a marker for type B (or C) specifically or is just common in pumas.

Different blood group systems have been characterized in people and other mammals. In domestic cats, the ABC blood group system plays the most important clinical role and has been investigated extensively—from the phenotype to the molecular genetics. In non-domestic felids, phenotypic ABC blood typing has been performed by different methods to detect the antigens, but the four informative CMAH markers in domestic cats were not able to identify types B and C (AB) in non-domestic cats. In this study, 138 blood samples from 15 non-domestic (wild) felid species were investigated by CMAH exonic sequencing and genotyping for putative variants causing type B or C (AB) and correlation to the respective ABC blood phenotype. A total of 58 CMAH variants were found, including 15 missense and 43 synonymous CMAH variants. One variant (c.635G>C) was concordant with blood type B (and C) in cheetahs and type B in cougars, compared to blood type A in all other felid species (lion, tiger, Canada lynx, snow leopard, clouded leopard, serval, jaguar, fishing cat, Pallas cat, bobcat, black footed cat, leopard, and sand cat). Since cheetahs and cougars belong to the genera puma, it could not be determined if the common CMAH variant is either a marker for type B (or C) or is just common in pumas.

## Linked entities

- **Genes:** CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene) [NCBI Gene 8418]

## Full-text entities

- **Genes:** CMAH [NCBI Gene 100750220]
- **Diseases:** type B or C (MESH:D019694), AB (MESH:D049290)
- **Species:** Puma (genus) [taxon 146712], Felis nigripes (black-footed cat, species) [taxon 61379], Prionailurus viverrinus (fishing cat, species) [taxon 61388], Panthera onca (jaguar, species) [taxon 9690], Felis margarita (sand cat, species) [taxon 61378], Lynx (genus) [taxon 13124], Felis catus (cat, species) [taxon 9685], Panthera pardus (leopard, species) [taxon 9691], Neofelis nebulosa (Clouded leopard, species) [taxon 61452], Panthera tigris (tiger, species) [taxon 9694], Panthera leo (lion, species) [taxon 9689], Panthera uncia (snow leopard, species) [taxon 29064], Acinonyx jubatus (cheetah, species) [taxon 32536], Leptailurus serval (serval, species) [taxon 61405], Lynx rufus (bobcat, species) [taxon 61384]
- **Mutations:** c.635G>C

## Full text

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## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11350856/full.md

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Source: https://tomesphere.com/paper/PMC11350856