GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00000060
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Canis familiaris
Trait State in Taxon B
Canis familiaris - 8 breeds with a black-and-tan or tricolor phenotype
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs
Rank
subspecies
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs
Rank
subspecies
Lineage
Show more ... tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.244G>T + 248G>A ; p.A82S + p.R83H
A82S and R83H in Linkage Disequilibrium
a G-to-T transversion and a G-to-A transition in exon 4 at positions corresponding to residues 244 and 248 of the cDNA sequence
It is unknown if one or both substitutions alter Agouti protein function
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Berryere TG; Kerns JA; Barsh GS; Schmutz SM
Abstract
The type of pigment synthesized in mammalian hair, yellow-red pheomelanin or black-brown eumelanin, depends on the interaction between Agouti protein and the Melanocortin 1 receptor. Although the genetics of pigmentation is broadly conserved across most mammalian species, pigment type-switching in domestic dogs is unusual because a yellow-tan coat with variable amounts of dark hair is thought to be caused by an allele of the Agouti locus referred to as fawn or sable (a(y)). In a large survey covering thirty seven breeds, we identified an Agouti allele with two missense alterations, A82S and R83H, which was present (heterozygous or homozygous) in 41 dogs (22 breeds) with a fawn or sable coat, but was absent from 16 dogs (8 breeds) with a black-and-tan or tricolor phenotype. In an additional 33 dogs (14 breeds) with a eumelanic coat, 8 (German Shepherd Dogs, Groenendaels, Schipperkes, or Shetland Sheepdogs) were homozygous for a previously reported mutation, non-agouti R96C; the remainder are likely to have carried dominant black, which is independent of and epistatic to Agouti. This work resolves some of the complexity in dog coat color genetics and provides diagnostic opportunities and practical guidelines for breeders.
Additional References
EXTERNAL LINKS
COMMENTS
@Epistasis https://omia.org/OMIA000201/9615/
YOUR FEEDBACK is welcome!