Albinism in the Domestic Cat Is Associated with a Tyrosinase Mutation

This study examined the temperature-sensitive coloration of pointed cats, such as the Siamese and Burmese, and the rare full albino, mapping these phenotypes to variants in the tyrosinase gene that controls the first step of melanin synthesis. The authors showed that the Siamese variant produces a thermolabile enzyme that functions only in the cooler extremities, explaining why the face, ears, paws, and tail are darker than the warm body core, while a more severe variant abolishes pigment entirely. The work provided a satisfying molecular basis for one of the most familiar coat patterns in cats and a model for temperature-dependent enzyme activity.