GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000686
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Bos taurus
					
	
									Trait State in Taxon B
					
		
													Bos taurus - Maine-Anjou
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			cattle
					
	
									Synonyms
					
		
																			Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
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						a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon A an Infraspecies?
					
		
																													No
					
	Taxon B
					
									Latin Name
					
		
	
									Common Name
					
		
																			cattle
					
	
									Synonyms
					
		
																			Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
			
			
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													Yes
					
	
							Taxon B Description
					
		
													Bos taurus - Maine-Anjou
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			MSTN
					
	
									Synonyms
					
		
																			GDF8; MSLHP
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the TGF-beta family.
					
	
							GO - Molecular Function
						
						
																														GO:0042802 : identical protein binding
							
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							GO - Biological Process
						
						
					
							GO - Cellular Component
						
						
																														GO:0005737 : cytoplasm
							
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									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Indel Size
					
		
													10-99 bp
					
	
									Molecular Details of the Mutation
					
		
													nt419 7bp deletion and 10bp insertion; leading to a premature stop codon at position 140 c.419_425del7, c418_426ins10
					
	
									Experimental Evidence
					
		
	
				Main Reference
	
	
				Authors
	
	
									Grobet L; Poncelet D; Royo LJ; Brouwers B; Pirottin D; Michaux C; Ménissier F; Zanotti M; et al.
									
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							Abstract
					
		
																			We have determined the entire myostatin coding sequence for 32 double-muscled cattle sampled from ten European cattle breeds. Seven DNA sequence polymorphisms were identified, of which five would be predicted to disrupt the function of the protein, one is a conservative amino acid substitution, and one a silent DNA sequence variant. Four additional DNA sequence polymorphisms were identified in myostatin intronic sequences. In all but two breeds, all double-muscled animals were either homozygous or compound heterozygotes for one of the five loss-of-function mutations. The absence of obvious loss-of-function mutations in the coding sequence of the two remaining breeds points either towards additional mutations in unexplored segments of the gene, or towards locus heterogeneity of double-muscling.
					
	
				Additional References
	
	
            EXTERNAL LINKS
        
    
            COMMENTS
        
	
					@Parallelism @AllelicSeries https://omia.org/OMIA000683/9913/
				
			
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