GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001154
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Felis catus
Trait State in Taxon B
Felis catus - chocolate
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; Korat cats L.
Rank
species
Lineage
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thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
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; Korat cats L.
Rank
species
Lineage
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thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Felis catus - chocolate
GENOTYPIC CHANGE
Generic Gene Name
Tyrp1
Synonyms
b; isa; Oca3; TRP1; Tyrp; TRP-1; brown; Tyrp-1
String
Sequence Similarities
Belongs to the tyrosinase family.
GO - Molecular Function
GO:0042803 : protein homodimerization activity
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GO - Biological Process
GO:0032438 : melanosome organization
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GO - Cellular Component
GO:0016021 : integral component of membrane
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Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
Two mutations associated with the chocolate (b) allele - 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 -exact causing change unknown
Experimental Evidence
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.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
EXTERNAL LINKS
COMMENTS
@Splicing @AllelicSeries https://omia.org/OMIA001249/9685/
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