GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000945
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Canis familiaris - various breeds
					
	
									Trait State in Taxon B
					
		
													Canis familiaris - various breeds
					
	
									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
			
			
							Parent
					
		
	
							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
					
		
																			Rspo2
					
	
									Synonyms
					
		
																			ftls; AA673245; D430027K22; 2610028F08Rik
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the R-spondin family.
					
	
							GO - Molecular Function
						
						
																														GO:0008201 : heparin binding
							
									 ... show more
										
																					
					
							GO - Biological Process
						
						
																														GO:0001649 : osteoblast differentiation
							
									 ... show more
										
																					
					
							GO - Cellular Component
						
						
																														GO:0005576 : extracellular region
							
									 ... show more
										
																					
					
									UniProtKB
																							
Mus musculus
						
					Mus musculus
									GenebankID or UniProtKB
													
						
					
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Insertion Size
					
		
													100-999 bp
					
	
									Molecular Details of the Mutation
					
		
													a 167bp insertion within the 3'UTR at position  which leads to a threefold increase in transcription of RSPO2 in muzzle skin of dogs with furnishings
					
	
									Experimental Evidence
					
		
	
				Authors
	
	
									Cadieu E; Neff MW; Quignon P; Walsh K; Chase K; Parker HG; Vonholdt BM; Rhue A; et al.
									
					... show more
										
							Abstract
					
		
																			Coat color and type are essential characteristics of domestic dog breeds. Although the genetic basis of coat color has been well characterized, relatively little is known about the genes influencing coat growth pattern, length, and curl. We performed genome-wide association studies of more than 1000 dogs from 80 domestic breeds to identify genes associated with canine fur phenotypes. Taking advantage of both inter- and intrabreed variability, we identified distinct mutations in three genes, RSPO2, FGF5, and KRT71 (encoding R-spondin-2, fibroblast growth factor-5, and keratin-71, respectively), that together account for most coat phenotypes in purebred dogs in the United States. Thus, an array of varied and seemingly complex phenotypes can be reduced to the combinatorial effects of only a few genes.
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
					   		Related Genes
					
					
				
								Related Haplotypes
					
					
													No matches found.
											
				
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					https://omia.org/OMIA001531/9615/
				
			
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