GEPHE SUMMARY Print
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
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?
Canis canis; Canis domesticus; Canis familiaris; dog; dogs
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?
Generic Gene Name
CMM5; MSH-R; SHEP2; MSHR
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO:0008528 : G protein-coupled peptide receptor activity ... show more
GO - Biological Process
GO:0007275 : multicellular organism development ... show more
GO - Cellular Component
GO:0005886 : plasma membrane ... show more
Molecular Details of the Mutation
R306ter; deletes 12 of 17 a.a. from C-terminus
Newton JM; Wilkie AL; He L; Jordan SA; Metallinos DL; Holmes NG; Jackson IJ; Barsh GS
The melanocortin 1 receptor (Mc1r) is encoded by the Extension locus in many different mammals, where a loss-of-function causes exclusive production of red/yellow pheomelanin, and a constitutively activating mutation causes exclusive production of black/brown eumelanin. In the domestic dog, breeds with a wild-type E allele, e. g., the Doberman, can produce either pigment type, whereas breeds with the e allele, e.g., the Golden Retriever, produce exclusively yellow pigment. However, a black coat color in the Newfoundland and similar breeds is thought to be caused by an unusual allele of Agouti, which encodes the physiologic ligand for the Mc1r. Here we report that the predicted dog Mc1r is 317 residues in length and 96% identical to the fox Mc1r. Comparison of the Doberman, Newfoundland, Black Labrador, Yellow Labrador, Flat-coated Retriever, Irish Setter, and Golden Retriever revealed six sequence variants, of which two, S90G and R306ter, partially correlated with a black/brown coat and red/yellow coat, respectively. R306ter was found in the Yellow Labrador, Golden Retriever, and Irish Setter; the latter two had identical haplotypes but differed from the Yellow Labrador at three positions other than R306ter. In a larger survey of 194 dogs and 19 breeds, R306ter and a red/yellow coat were completely concordant except for the Red Chow. These results indicate that the e allele is caused by a common Mc1r loss-of-function mutation that either reoccurred or was subject to gene conversion during recent evolutionary history, and suggest that the allelic and locus relationships for dog coat color genes may be more analogous to those found in other mammals than previously thought.
10 (Agouti (ASIP), PMEL17, beta-defensin 103 (CBD103), FGF3; FGF4; FGF19; ORAOV1, Melanophilin (MLPH), Microphtalmia-associated transcription factor, PSMB7, tyrosinase-related protein 1 (TYRP1), beta-defensin 103 (CBD103) [pseudo-replicate of Dog entry; introgression of Dog allele], RALY (hnRNP associated with lethal yellow))
YOUR FEEDBACK is welcome!