GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001366
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Dog (Basset Hounds and Pembroke Welsh Corgis) and wolf and coyotte ; saddle tan
Trait State in Taxon B
Basset hounds and Pembroke Welsh Corgis ; Black and tan
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Dog (Basset Hounds and Pembroke Welsh Corgis) and wolf and coyotte ; saddle tan
Taxon B
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Basset hounds and Pembroke Welsh Corgis ; Black and tan
GENOTYPIC CHANGE
UniProtKB
Homo sapiens
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Insertion Size
10-99 bp
Molecular Details of the Mutation
16 bpduplication g.1875_1890dupCCCCAGGTCAGAGTTT in intron
Experimental Evidence
Authors
Dreger DL; Parker HG; Ostrander EA; Schmutz SM
Abstract
The causative mutation for the black-and-tan (a (t) ) phenotype in dogs was previously shown to be a SINE insertion in the 5' region of Agouti Signaling Protein (ASIP). Dogs with the black-and-tan phenotype, as well as dogs with the saddle tan phenotype, genotype as a (t) /_ at this locus. We have identified a 16-bp duplication (g.1875_1890dupCCCCAGGTCAGAGTTT) in an intron of hnRNP associated with lethal yellow (RALY), which segregates with the black-and-tan phenotype in a group of 99 saddle tan and black-and-tan Basset Hounds and Pembroke Welsh Corgis. In these breeds, all dogs with the saddle tan phenotype had RALY genotypes of +/+ or +/dup, whereas dogs with the black-and-tan phenotype were homozygous for the duplication. The presence of an a (y) /_ fawn or e/e red genotype is epistatic to the +/_ saddle tan genotype. Genotypes from 10 wolves and 1 coyote indicated that the saddle tan (+) allele is the ancestral allele, suggesting that black-and-tan is a modification of saddle tan. An additional 95 dogs from breeds that never have the saddle tan phenotype have all three of the possible RALY genotypes. We suggest that a multi-gene interaction involving ASIP, RALY, MC1R, DEFB103, and a yet-unidentified modifier gene is required for expression of saddle tan.
Additional References
COMMENTS
@Epistasis - recessive
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