The Blue Eye Genes in Cats
Professor Marie Abitbol and her research team have identified four different genetic variants within the PAX3 gene that are responsible for dominant blue eyes (DBE) in various cat breeds and breeding lines. These discoveries confirm that the blue eye trait arose from separate founding events across different lineages.
The identified PAX3 gene variants are:
DBECEL (Celestial Dominant Blue Eyes): Identified in the Celestial breed and found to be generally unassociated with deafness in heterozygous cats.
DBEALT (Altai Dominant Blue Eyes): Found in Altai cats, this variant has not been linked to deafness in heterozygous cats.
DBERE (Rociri Elvis Dominant Blue Eyes): This variant, identified in a Dutch Maine Coon line.
DBEAGO (Agostino Dominant Blue Eyes): The newest variant, found in the Agostino Maine Coon line, which results in a truncated PAX3 protein and has not yet had sufficient data gathered regarding associated deafness due to the line's recent history.
Key Characteristics of These Genes
Dominant Inheritance: The blue eye trait caused by these variants is autosomal dominant, meaning only one copy of the gene is typically needed to produce the blue eye phenotype.
Variable Expression: The expression of these genes can vary, sometimes resulting in one blue eye and one pigmented eye (heterochromia) or two blue eyes.
Associated Conditions: The PAX3 gene is crucial for the development of melanocytes and neural structures, which is why some variants are associated with minimal white spotting and potential hearing loss, resembling Waardenburg Syndrome in humans.
Genetic Testing: The identification of these distinct variants highlights the necessity for specific DNA testing to confirm a cat's genetic status and help breeders avoid problematic pairings that might result in health issues (such as deafness or embryonic lethality in homozygous cats).
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