1. Specifying and sustaining pigmentation patterns in domestic and wild cats.
- Author
-
Kaelin CB, Xu X, Hong LZ, David VA, McGowan KA, Schmidt-Küntzel A, Roelke ME, Pino J, Pontius J, Cooper GM, Manuel H, Swanson WF, Marker L, Harper CK, van Dyk A, Yue B, Mullikin JC, Warren WC, Eizirik E, Kos L, O'Brien SJ, Barsh GS, and Menotti-Raymond M
- Subjects
- Acinonyx genetics, Acinonyx metabolism, Alleles, Aminopeptidases chemistry, Aminopeptidases metabolism, Animals, Cats embryology, Cats growth & development, Cats metabolism, Endothelin-3 metabolism, Epistasis, Genetic, Felidae growth & development, Felidae metabolism, Gene Expression Regulation, Gene Frequency, Genetic Variation, Hair embryology, Hair growth & development, Hair Follicle embryology, Haplotypes, Metalloproteases chemistry, Metalloproteases metabolism, Mice, Mice, Transgenic, Panthera genetics, Panthera metabolism, Phenotype, Polymorphism, Single Nucleotide, Skin anatomy & histology, Skin embryology, Species Specificity, Aminopeptidases genetics, Cats genetics, Endothelin-3 genetics, Felidae genetics, Hair Color genetics, Metalloproteases genetics, Skin metabolism
- Abstract
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.
- Published
- 2012
- Full Text
- View/download PDF