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

Kaelin et al. demonstrated that the transmembrane peptidase gene, aminopeptidase Q (Taqpep), played a crucial role in specifying feline pigmentation patterns, such as the mackerel stripes in domestic cats and spots in cheetahs. They found that mutations in this gene led to blotched patterns due to loss of function. The study also revealed that endothelin-3 (Edn3) expression was associated with dark patches in tabby cats and cheetahs, suggesting that endothelin signaling could override melanocortin signaling to produce eumelanin even when agouti blocked MC1R. The research highlighted the potential of next-generation sequencing to uncover genetic mechanisms behind animal pigmentation patterns.