Specifying and Sustaining Pigmentation Patterns in Domestic and Wild Cats
Color markings among felid species display both a remarkable diversity and a common underlying periodicity. A similar range of patterns in domestic cats suggests a conserved mechanism whose appearance can be altered by selection. We identified the gene responsible for tabby pattern variation in domestic cats as Transmembrane aminopeptidase Q (Taqpep), which encodes a membrane-bound metalloprotease. Analyzing 31 other felid species, we identified Taqpep as the cause of the rare king cheetah phenotype, in which spots coalesce into blotches and stripes. Histologic, genomic expression, and transgenic mouse studies indicate that paracrine expression of Endothelin3 (Edn3) coordinates localized color differences. We propose a two-stage model in which Taqpep helps to establish a periodic pre-pattern during skin development that is later implemented by differential expression of Edn3.
Cite: Christopher B. Kaelin1, Xiao Xu3, Lewis Z. Hong, Victor A. David, Kelly A. McGowan, Anne Schmidt-Küntzel, Melody E. Roelke, Javier Pino, Joan Pontius, Gregory M. Cooper, Hermogenes Manuel, William F. Swanson, Laurie Marker, Cindy K. Harper, Ann van Dyk, Bisong Yue et al. (2012) Specifying and Sustaining Pigmentation Patterns in Domestic and Wild Cats. Science . 337 (6101) : 1536-1541.