Publication Date:
2012-09-22
Description:
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.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709578/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709578/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kaelin, Christopher B -- Xu, Xiao -- Hong, Lewis Z -- David, Victor A -- McGowan, Kelly A -- Schmidt-Kuntzel, Anne -- Roelke, Melody E -- Pino, Javier -- Pontius, Joan -- Cooper, Gregory M -- Manuel, Hermogenes -- Swanson, William F -- Marker, Laurie -- Harper, Cindy K -- van Dyk, Ann -- Yue, Bisong -- Mullikin, James C -- Warren, Wesley C -- Eizirik, Eduardo -- Kos, Lidia -- O'Brien, Stephen J -- Barsh, Gregory S -- Menotti-Raymond, Marilyn -- N01-CO-12400/CO/NCI NIH HHS/ -- U54 HG003079/HG/NHGRI NIH HHS/ -- Intramural NIH HHS/ -- New York, N.Y. -- Science. 2012 Sep 21;337(6101):1536-41.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/22997338" target="_blank"〉PubMed〈/a〉
Keywords:
Acinonyx/genetics/metabolism
;
Alleles
;
Aminopeptidases/chemistry/*genetics/metabolism
;
Animals
;
Cats/embryology/*genetics/growth & development/metabolism
;
Endothelin-3/*genetics/metabolism
;
Epistasis, Genetic
;
Felidae/*genetics/growth & development/metabolism
;
Gene Expression Regulation
;
Gene Frequency
;
Genetic Variation
;
Hair/embryology/growth & development
;
Hair Color/*genetics
;
Hair Follicle/embryology
;
Haplotypes
;
Metalloproteases/chemistry/*genetics/metabolism
;
Mice
;
Mice, Transgenic
;
Panthera/genetics/metabolism
;
Phenotype
;
Polymorphism, Single Nucleotide
;
Skin/anatomy & histology/embryology/*metabolism
;
Species Specificity
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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