GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00000521
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Vulpes vulpes
Trait State in Taxon B
Vulpes vulpes - platinum (farm-bred)
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
red fox
Synonyms
Canis vulpes; red fox; silver fox
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Vulpes
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
red fox
Synonyms
Canis vulpes; red fox; silver fox
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Vulpes
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Vulpes vulpes - platinum (farm-bred)
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
splice mutation; G to A substitution in the first nucleotide of intron 17; leads to skipping of exon 17.
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Johnson JL; Kozysa A; Kharlamova AV; Gulevich RG; Perelman PL; Fong HW; Vladimirova AV; Oskina IN; et al. ... show more
Abstract
The red fox (Vulpes vulpes) demonstrates a variety of coat colors including platinum, a common phenotype maintained in farm-bred fox populations. Foxes heterozygous for the platinum allele have a light silver coat and extensive white spotting, whereas homozygosity is embryonic lethal. Two KIT transcripts were identified in skin cDNA from platinum foxes. The long transcript was identical to the KIT transcript of silver foxes, whereas the short transcript, which lacks exon 17, was specific to platinum. The KIT gene has several copies in the fox genome: an autosomal copy on chromosome 2 and additional copies on the B chromosomes. To identify the platinum-specific KIT sequence, the genomes of one platinum and one silver fox were sequenced. A single nucleotide polymorphism (SNP) was identified at the first nucleotide of KIT intron 17 in the platinum fox. In platinum foxes, the A allele of the SNP disrupts the donor splice site and causes exon 17, which is part of a segment that encodes a conserved tyrosine kinase domain, to be skipped. Complete cosegregation of the A allele with the platinum phenotype was confirmed by linkage mapping (LOD 25.59). All genotyped farm-bred platinum foxes from Russia and the US were heterozygous for the SNP (A/G), whereas foxes with different coat colors were homozygous for the G allele. Identification of the platinum mutation suggests that other fox white-spotting phenotypes, which are allelic to platinum, would also be caused by mutations in the KIT gene.

© 2015 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
1
COMMENTS
@Splicing Dominance: All genotyped farm-bred platinum foxes from Russia and the US were heterozygous for the SNP (A/G); Parallelism: The loss of KIT exon 17 has been shown to cause the Sabino spotting pattern in horses and in combination with a duplication of the normal copy of the KIT gene to cause a dominant white phenotype in pigs. Interestingly; the mutation in pigs that leads to the skipping of exon 17 is the same as in the platinum fox
YOUR FEEDBACK is welcome!