How the Leopard Gets Its Spots: A Transmembrane Peptidase Specifies Feline Pigmentation Patterns

Kaelin et al. demonstrated that the pigmentation patterns in domestic and wild cats, such as tabby stripes and blotched patterns, were influenced by a gene called Taqpep, which encodes a transmembrane peptidase. Mutations in this gene led to variations in coat patterns, such as the blotched tabby in cats and the king cheetah's unique markings. The study found that dark patches in these animals were associated with increased expression of endothelin-3 (Edn3), which promotes melanocyte differentiation and proliferation, suggesting that endothelin signalling can override the agouti gene's effect on melanocortin receptor (MC1R) signalling to produce dark eumelanin. This research highlighted the power of next-generation sequencing in uncovering genetic mechanisms behind animal pigmentation.