Chocolate coated cats: TYRP1 mutations for brown color in domestic cats

Leslie A Lyons, Ian T. Foe, Hyung Chul Rah, Robert A Grahn

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Brown coat color phenotypes caused by mutations in tyrosinase-related protein-1 (TYRP1) are recognized in many mammals. Brown variations are also recognized in the domestic cat, but the causative mutations are unknown. In cats, Brown, B, has a suggested allelic series, B > b > b l. The B allele is normal wild-type black coloration. Cats with the brown variation genotypes, bb or bb l, are supposedly phenotypically chocolate (aka chestnut) and the light brown genotype, b lbl, are supposedly phenotypically cinnamon (aka red). The complete coding sequence of feline TYRP1 and a portion of the 5′ UTR was analyzed by direct sequencing of genomic DNA of wild-type and brown color variant cats. Sixteen single nucleotide polymorphisms (SNPs) were identified. Eight SNPs were in the coding regions, six are silent mutations. Two exon 2 on mutations cause amino acid changes. The C to T nonsense mutation at position 298 causes an arginine at amino acid 100 to be replaced by the opal (UGA) stop codon. This mutation is consistent with the cinnamon phenotype and is the putative light brown, b l, mutation. An intron 6 mutation that potentially disrupts the exon 6 downstream splice-donor recognition site is associated with the chocolate phenotype and is the putative brown, b, mutation. The allelic series was confirmed by segregation and sequence analyses. Three microsatellite makers had significant linkage to the brown phenotype and two for the TYRP1 mutations in a 60-member pedigree. These mutations could be used to identify carriers of brown phenotypes in the domestic cat.

Original languageEnglish (US)
Pages (from-to)356-366
Number of pages11
JournalMammalian Genome
Volume16
Issue number5
DOIs
StatePublished - May 2005

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Cats
Color
Mutation
Phenotype
Cinnamomum zeylanicum
Terminator Codon
Single Nucleotide Polymorphism
Exons
Genotype
Chocolate
tyrosinase-related protein-1
Amino Acids
RNA Splice Sites
Nonsense Codon
5' Untranslated Regions
Felidae
Pedigree
DNA Sequence Analysis
Microsatellite Repeats
Introns

ASJC Scopus subject areas

  • Genetics

Cite this

Chocolate coated cats : TYRP1 mutations for brown color in domestic cats. / Lyons, Leslie A; Foe, Ian T.; Rah, Hyung Chul; Grahn, Robert A.

In: Mammalian Genome, Vol. 16, No. 5, 05.2005, p. 356-366.

Research output: Contribution to journalArticle

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