GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000270
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Coturnix japonica
					
	
									Trait State in Taxon B
					
		
													Coturnix japonica - panda (white-spotting ; recessive)
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			Japanese quail
					
	
									Synonyms
					
		
																			Coturnix coturnix Japonicus; Coturnix coturnix japanica; Coturnix coturnix japonica; Coturnix japonica japonica; Japanese quail; Coturnix japonica Temminck & Schlegel, 1849
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
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						ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
			
			
							Parent
					
		
	
							NCBI Taxonomy ID
					
		
	
									is Taxon A an Infraspecies?
					
		
																													No
					
	Taxon B
					
									Latin Name
					
		
	
									Common Name
					
		
																			Japanese quail
					
	
									Synonyms
					
		
																			Coturnix coturnix Japonicus; Coturnix coturnix japanica; Coturnix coturnix japonica; Coturnix japonica japonica; Japanese quail; Coturnix japonica Temminck & Schlegel, 1849
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
				Show more ... 
						ha; Tetrapoda; Amniota; Sauropsida; Sauria; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Perdicinae; Coturnix
			
			
							Parent
					
		
	
							NCBI Taxonomy ID
					
		
	
									is Taxon B an Infraspecies?
					
		
																													Yes
					
	
							Taxon B Description
					
		
													Coturnix japonica - panda (white-spotting)
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			Ednrb
					
	
									Synonyms
					
		
																			ETb; ET-B; ET-BR; ETR-b; Sox10m1
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.
					
	
							GO - Molecular Function
						
						
																														GO:0017046 : peptide hormone binding
							
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							GO - Biological Process
						
						
																														GO:0043066 : negative regulation of apoptotic process
							
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							GO - Cellular Component
						
						
																														GO:0016021 : integral component of membrane
							
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									UniProtKB
																							
Mus musculus
						
					Mus musculus
									GenebankID or UniProtKB
													
						
					
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									SNP Coding Change
					
		
													Nonsynonymous
					
	
									Molecular Details of the Mutation
					
		
													c.995G>A p.R332H
					
	
									Experimental Evidence
					
		
	| Taxon A | Taxon B | Position | |
|---|---|---|---|
| Codon | - | - | - | 
| Amino-acid | Arg | His | 332 | 
				Main Reference
	
	
				Authors
	
	
									Miwa M; Inoue-Murayama M; Aoki H; Kunisada T; Hiragaki T; Mizutani M; Ito S
										
							Abstract
					
		
																			The panda mutant in Japanese quail (Coturnix japonica) displays spots of wild-type plumage on a white background and is controlled by an autosomal recessive allele (s). The dotted white is controlled by a third allele (s(dw)) of the s locus with s(dw)/s(dw) quail having less pigmentation than s/s quail. We mapped the s locus to the Japanese quail chromosome 4 (CJA04) in a previous study. The orthologous region of the chicken (Gallus gallus) genome includes endothelin receptor B2 (EDNRB2), an avian-specific paralog of endothelin receptor B (EDNRB). EDNRB mutations in mammals retard the migration of neural crest cells (NCCs), which results in a spotted coat colour and an enteric nervous defect. In the present study, we investigated the association between the s locus and EDNRB2 in Japanese quail. Sequence comparison among transcripts from livers of wild-type, panda and dotted white quail revealed a nucleotide substitution (c.995G>A) leading to a p.R332H amino acid change that was specific to panda, whereas no amino acid substitution was found in dotted white birds. The amino acid position 332 is located in the sixth transmembrane domain and is highly conserved in both avian and mammalian endothelin receptors. The A allele at nucleotide position 995 was specific to panda (s/s) birds among 10 strains, and was mapped to the same chromosomal region as the s locus. Quantitative RT-PCR revealed that EDNRB2 transcripts were reduced in both panda and dotted white mutants compared with wild-type. However, there was no difference between the early embryos of wild-type and panda with respect to the migration of NCCs. The genetic association of EDNRB2 with plumage colour in birds was found for the first time in this study.
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
								Related Haplotypes
					
					
													No matches found.
											
				
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					https://omia.org/OMIA000375/93934/
				
			
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