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

Area of Science:

• Veterinary Genetics
• Mammalian Blood Groups
• Comparative Genomics

Background:

• The ABC blood group system is clinically significant in domestic cats, with extensive research on its phenotype and molecular genetics.
• Previous studies on non-domestic felids faced limitations in identifying ABC blood types B and C (AB) using domestic cat CMAH markers.

Purpose of the Study:

• To investigate CMAH exonic sequencing and genotyping in non-domestic felids to identify variants linked to ABC blood types B or C (AB).
• To correlate identified CMAH variants with the respective ABC blood group phenotypes across various wild felid species.

Main Methods:

• Sequencing of 138 blood samples from 15 non-domestic felid species.
• Genotyping for putative variants in the CMAH gene.
• Phenotypic correlation of identified variants with ABC blood types.

Main Results:

• Discovery of 58 CMAH variants, including 15 missense and 43 synonymous variants.
• Identification of a specific variant (c.635G>C) concordant with blood type B (and C) in cheetahs and type B in cougars.
• All other investigated felid species exhibited blood type A.

Conclusions:

• The identified CMAH variant (c.635G>C) shows a strong association with specific blood types in cheetahs and cougars.
• Further research is needed to determine if this variant is a specific blood type marker or a genus-specific trait within Pumas.