GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001153
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Felis catus
Trait State in Taxon B
Felis catus - cinnamon
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Felis catus - cinnamon
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsense
Molecular Details of the Mutation
premature UAG stop codon at position 100 of TYRP1; AAG>TAG
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Schmidt-Küntzel A; Eizirik E; O'Brien SJ; Menotti-Raymond M
Abstract
The genes encoding enzymes of the tyrosinase family are strong candidates for coat color variation in mammals. To investigate their influence in domestic cat coat color, we determined the complete nucleotide coding sequence of the domestic cat genes tyrosinase (TYR)--a plausible candidate gene for the albino (C) locus, and tyrosinase related protein 1 (TYRP1)--a candidate gene for the brown (B) locus. Sequence variants between individuals exhibiting variation in pigmentation were submitted to association studies. In TYR, two nonsynonymous substitutions encoding TYR-G301R and TYR-G227W were associated with the siamese and burmese phenotypes of the albino locus, respectively. TYRP1 was mapped on chromosome D4 within 5 cM of a highly polymorphic microsatellite, previously found to be fixed in a cat breed selected for the chocolate (b) allele of the B locus, which reinforced TYRP1 as a candidate gene for the B locus in the domestic cat. Two DNA polymorphisms, one leading to a TYRP1-A3G substitution in the signal peptide and another to an in-frame insertion TYRP1-421ins17/18 caused by a donor splice site mutation in intron 6, were associated with the chocolate (b) allele. A premature UAG stop codon at position 100 of TYRP1 was associated with a second allele of the B locus, cinnamon (b(l)). The results provide very strong evidence that the specific nucleotide variants of feline TYR (chromosome D1) are causative of the siamese (c(s)) and burmese (c(b)) alleles of the albino locus, as well as nucleotide variants of TYRP1 (chromosome D4) as specifying the chocolate (b) and cinnamon (b(l)) alleles of the B locus.
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