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Science 326 (5949): 150-153

Copyright © 2009 by the American Association for the Advancement of Science

Coat Variation in the Domestic Dog Is Governed by Variants in Three Genes

Edouard Cadieu,1 Mark W. Neff,2 Pascale Quignon,1 Kari Walsh,2 Kevin Chase,3 Heidi G. Parker,1 Bridgett M. VonHoldt,4 Alison Rhue,2 Adam Boyko,5 Alexandra Byers,1 Aaron Wong,2 Dana S. Mosher,1 Abdel G. Elkahloun,1 Tyrone C. Spady,1 Catherine André,6 K. Gordon Lark,3 Michelle Cargill,7,* Carlos D. Bustamante,5 Robert K. Wayne,4 Elaine A. Ostrander1,{dagger}

Abstract: Coat color and type are essential characteristics of domestic dog breeds. Although the genetic basis of coat color has been well characterized, relatively little is known about the genes influencing coat growth pattern, length, and curl. We performed genome-wide association studies of more than 1000 dogs from 80 domestic breeds to identify genes associated with canine fur phenotypes. Taking advantage of both inter- and intrabreed variability, we identified distinct mutations in three genes, RSPO2, FGF5, and KRT71 (encoding R-spondin–2, fibroblast growth factor–5, and keratin-71, respectively), that together account for most coat phenotypes in purebred dogs in the United States. Thus, an array of varied and seemingly complex phenotypes can be reduced to the combinatorial effects of only a few genes.

1 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
2 Veterinary Genetics Laboratory, University of California, Davis, CA, 95616, USA.
3 Department of Biology, University of Utah, Salt Lake City, UT 84112, USA.
4 Department of Ecology and Evolutionary Biology, University of California, Los Angeles, CA, 90095, USA.
5 Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY 14853, USA.
6 UMR 6061, CNRS, Université de Rennes 1, Faculté de Médecine, CS 34317, Rennes, France.
7 Affymetrix Corporation, Santa Clara, CA 95051, USA.

* Present address: Genetics Navigenics, Foster City, CA 94404, USA.

{dagger} To whom correspondence should be addressed. E-mail: eostrand{at}mail.nih.gov

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