title: Specifying and sustaining pigmentation patterns in domestic and wild cats.
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.
authors.affiliation: HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
authors.forename: Christopher B
authors.initials: CB
authors.lastname: Kaelin
authors.forename: Xiao
authors.initials: X
authors.lastname: Xu
authors.forename: Lewis Z
authors.initials: LZ
authors.lastname: Hong
authors.forename: Victor A
authors.initials: VA
authors.lastname: David
authors.forename: Kelly A
authors.initials: KA
authors.lastname: McGowan
authors.forename: Anne
authors.initials: A
authors.lastname: Schmidt-Küntzel
authors.forename: Melody E
authors.initials: ME
authors.lastname: Roelke
authors.forename: Javier
authors.initials: J
authors.lastname: Pino
authors.forename: Joan
authors.initials: J
authors.lastname: Pontius
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Cooper
authors.forename: Hermogenes
authors.initials: H
authors.lastname: Manuel
authors.forename: William F
authors.initials: WF
authors.lastname: Swanson
authors.forename: Laurie
authors.initials: L
authors.lastname: Marker
authors.forename: Cindy K
authors.initials: CK
authors.lastname: Harper
authors.forename: Ann
authors.initials: A
authors.lastname: van Dyk
authors.forename: Bisong
authors.initials: B
authors.lastname: Yue
authors.forename: James C
authors.initials: JC
authors.lastname: Mullikin
authors.forename: Wesley C
authors.initials: WC
authors.lastname: Warren
authors.forename: Eduardo
authors.initials: E
authors.lastname: Eizirik
authors.forename: Lidia
authors.initials: L
authors.lastname: Kos
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: O'Brien
authors.forename: Gregory S
authors.initials: GS
authors.lastname: Barsh
authors.forename: Marilyn
authors.initials: M
authors.lastname: Menotti-Raymond
mesh_terms: D002612:Acinonyx / Q000235:genetics / Q000378:metabolism; D000483:Alleles; D000626:Aminopeptidases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D002415:Cats / Q000196:embryology / Q000235:genetics* / Q000254:growth & development / Q000378:metabolism; D019334:Endothelin-3 / Q000235:genetics* / Q000378:metabolism; D004843:Epistasis, Genetic; D045989:Felidae / Q000235:genetics* / Q000254:growth & development / Q000378:metabolism; D005786:Gene Expression Regulation; D005787:Gene Frequency; D014644:Genetic Variation; D006197:Hair / Q000196:embryology / Q000254:growth & development; D006200:Hair Color / Q000235:genetics*; D018859:Hair Follicle / Q000196:embryology; D006239:Haplotypes; D045726:Metalloproteases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008822:Mice, Transgenic; D046009:Panthera / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012867:Skin / Q000033:anatomy & histology / Q000196:embryology / Q000378:metabolism*; D013045:Species Specificity
chemical_list: D019334:Endothelin-3; D045726:Metalloproteases; D000626:Aminopeptidases