naked truth: Sphynx and Devon Rex cat breed mutations in KRT71

• Published in: Mammalian genome 2010-10, Vol.21 (9-10), p.509-515
• Main Authors: Gandolfi, Barbara, Outerbridge, Catherine A, Beresford, Leslie G, Myers, Jeffrey A, Pimentel, Monica, Alhaddad, Hasan, Grahn, Jennifer C, Grahn, Robert A, Lyons, Leslie A
• Format: Article
• Language: English
• Subjects: 3' Untranslated Regions - genetics; Alleles; Alternative Splicing; Animal Genetics and Genomics; Animals; Base Sequence; Biomedical and Life Sciences; Cats - genetics; Cell Biology; Genotype; Hair - physiology; Hair Color - genetics; Hair Follicle; Human Genetics; Keratins, Hair-Specific - genetics; Life Sciences; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; RNA Splice Sites; Sequence Analysis, DNA
• ISSN: 0938-8990; 1432-1777
• DOI: 10.1007/s00335-010-9290-6

Hair is a unique structure, characteristic of mammals, controlling body homeostasis, as well as cell and tissue integration. Previous studies in dog, mouse, and rat have identified polymorphisms in Keratin 71 (KRT71) as responsible for the curly/wavy phenotypes. The coding sequence and the 3′ UTR of KRT71 were directly sequenced in randomly bred and pedigreed domestic cats with different pelage mutations, including hairless varieties. A SNP altering a splice site was identified in the Sphynx breed and suggested to be the hairless (hr) allele, and a complex sequence alteration, also causing a splice variation, was identified in the Devon Rex breed and suggested to be the curly (re) allele. The polymorphisms were genotyped in approximately 200 cats. All the Devon Rex were homozygous for the complex alterations and most of the Sphynx were either homozygous for the hr allele or compound heterozygotes with the Devon-associated re allele, suggesting that the phenotypes are a result of the identified SNPs. Two Sphynx carrying the proposed hr mutation did not carry the Devon-associated alteration. No other causative mutations for eight different rexoid and hairless cat phenotypes were identified. The allelic series KRT71 ⁺ > KRT71 hr > KRT71 re is suggested.