GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000060
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait
					
		
	
									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
					
									Latin Name
					
		
	
									Common Name
					
		
																			dog
					
	
									Synonyms
					
		
																			Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
					
	
									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
					
									Latin Name
					
		
	
									Common Name
					
		
																			dog
					
	
									Synonyms
					
		
																			Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
					
	
									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
            	            
	                
	
									Generic Gene Name
					
		
																			Asip
					
	
									Synonyms
					
		
																			As; ASP; A<y>; ASIP; a
					
	
									String
					
		
	
									Sequence Similarities
					
		
																				-
					
	
							GO - Molecular Function
						
						
																														GO:0031779 : melanocortin receptor binding
							
									 ... show more
										
																					
					
							GO - Biological Process
						
						
																														GO:0008343 : adult feeding behavior
							
									 ... show more
										
																					
					
							GO - Cellular Component
						
						
																														GO:0005576 : extracellular region
							
									 ... show more
										
																					
					
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									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
	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 | - | - | - | 
				Main Reference
	
	
				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
	
	
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					@Epistasis
https://omia.org/OMIA000201/9615/
				
			
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