title: An insertion in the RSPO2 gene correlates with improper coat in the Portuguese water dog.
abstract: We recently showed that genes at 3 loci account for the majority of variation in canine fur. Allelic variation at genes controlling length of fur, texture, and curl is responsible for the striking phenotypic variety observed among purebred dogs in the United States today. In this paper, we investigate the phenomenon of "improper coat" (IC) or a coat that is not typical of the breed. IC is occasionally observed among specific breeds, such as the Portuguese Water Dog (PWD), and is characterized by short hair on the head, face, and lower legs, rather than a thick and even coat covering the whole body. The IC is reminiscent of that observed on the curly or flat-coated retriever, thus making such dogs unable to compete effectively in conformation events. We have found that the presence of the wild-type allele, rather than the expected variant allele at the R-spondin 2 (RSPO2) gene, accounts for this phenotype. The development of a genetic test that distinguishes these 2 allelic types would allow breeders to easily avoid producing PWD with ICs.
authors.affiliation: Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: Heidi G
authors.initials: HG
authors.lastname: Parker
authors.forename: Kevin
authors.initials: K
authors.lastname: Chase
authors.forename: Edouard
authors.initials: E
authors.lastname: Cadieu
authors.forename: Karl Gordon
authors.initials: KG
authors.lastname: Lark
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Ostrander
mesh_terms: D000483:Alleles; D000818:Animals; D001947:Breeding; D004285:Dogs / Q000235:genetics*; D051521:Fibroblast Growth Factor 5 / Q000235:genetics; D006197:Hair / Q000033:anatomy & histology / Q000502:physiology*; D016254:Mutagenesis, Insertional; D010641:Phenotype; D019699:Thrombospondins / Q000235:genetics*; D000099262:Thrombospondin 2
chemical_list: D051521:Fibroblast Growth Factor 5; D019699:Thrombospondins; D000099262:Thrombospondin 2