GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00001477
					
	
									Main curator
					
		
													Prigent
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait
					
		
	
									Trait State in Taxon A
					
		
													Gray wolf of 38 to 66 kg
					
	
									Trait State in Taxon B
					
		
													Dog of 5.5 kg on average
					
	
									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
					
		
																			human
					
	
									Synonyms
					
		
																			human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
			
			
							Parent
					
		
	
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													No
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			SMAD2
					
	
									Synonyms
					
		
																				-
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the dwarfin/SMAD family.
					
	
							GO - Molecular Function
						
						
																														GO:0042803 : protein homodimerization activity
							
									 ... show more
										
																					
					
							GO - Biological Process
						
						
																														GO:0009952 : anterior/posterior pattern specification
							
									 ... show more
										
																					
					
							GO - Cellular Component
						
						
																														GO:0005737 : cytoplasm
							
									 ... show more
										
																					
					
									UniProtKB
																							
Canis lupus familiaris
						
					Canis lupus familiaris
									GenebankID or UniProtKB
													
						
					
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Deletion Size
					
		
													1-10 kb
					
	
									Molecular Details of the Mutation
					
		
													9.9 kb deletion 24-kb dowstream from coding region
					
	
									Experimental Evidence
					
		
	
				Main Reference
	
	
				Authors
	
	
									Rimbault M; Beale HC; Schoenebeck JJ; Hoopes BC; Allen JJ; Kilroy-Glynn P; Wayne RK; Sutter NB; et al.
									
					... show more
										
							Abstract
					
		
																			Selective breeding of dogs by humans has generated extraordinary diversity in body size. A number of multibreed analyses have been undertaken to identify the genetic basis of this diversity. We analyzed four loci discovered in a previous genome-wide association study that used 60,968 SNPs to identify size-associated genomic intervals, which were too large to assign causative roles to genes. First, we performed fine-mapping to define critical intervals that included the candidate genes GHR, HMGA2, SMAD2, and STC2, identifying five highly associated markers at the four loci. We hypothesize that three of the variants are likely to be causative. We then genotyped each marker, together with previously reported size-associated variants in the IGF1 and IGF1R genes, on a panel of 500 domestic dogs from 93 breeds, and identified the ancestral allele by genotyping the same markers on 30 wild canids. We observed that the derived alleles at all markers correlated with reduced body size, and smaller dogs are more likely to carry derived alleles at multiple markers. However, breeds are not generally fixed at all markers; multiple combinations of genotypes are found within most breeds. Finally, we show that 46%-52.5% of the variance in body size of dog breeds can be explained by seven markers in proximity to exceptional candidate genes. Among breeds with standard weights <41 kg (90 lb), the genotypes accounted for 64.3% of variance in weight. This work advances our understanding of mammalian growth by describing genetic contributions to canine size determination in non-giant dog breeds. 
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
								Related Haplotypes
					
					
													No matches found.
											
				
            EXTERNAL LINKS
        
    
            COMMENTS
        
	
					each variant is potentially causal. Deletion could potentially affect transcription efficiency as predicted by the loss of a transcription factor binding site cluster
				
			
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