GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00001389
					
	
									Main curator
					
		
													Courtier
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Mouse
					
	
									Trait State in Taxon B
					
		
													Cattle
					
	
									Ancestral State
					
		
													Taxon A
					
	
									Taxonomic Status
					
		
	Taxon A
					
									Latin Name
					
		
	
									Common Name
					
		
																			house mouse
					
	
									Synonyms
					
		
																			house mouse; mouse; Mus musculus Linnaeus, 1758; mice C57BL/6xCBA/CaJ hybrid
					
	
									Rank
					
		
																			species
					
	
		Lineage
	
	
															
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						i; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
			
			
							Parent
					
		
	
							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?
					
		
																													No
					
	
            GENOTYPIC CHANGE
            	            
	                
	
									Generic Gene Name
					
		
																			Ptch1
					
	
									Synonyms
					
		
																			Ptc; mes; wig; Ptc1; Ptch; A230106A15Rik
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the patched family.
					
	
							GO - Molecular Function
						
						
																														GO:0008270 : zinc ion binding
							
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							GO - Biological Process
						
						
																														GO:0007165 : signal transduction
							
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							GO - Cellular Component
						
						
																														GO:0005886 : plasma membrane
							
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									UniProtKB
																							
Mus musculus
						
					Mus musculus
									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Molecular Details of the Mutation
					
		
													LRM enhancer located between coding exons 15 and 19 at 37 kb of the transcription start site - exact causing mutation(s) unknown - Loss of activity of the LRM enhancer that normally upregulates Ptch1 expression in the limb-bud mesenchyme in response to SHH signalling
					
	
									Experimental Evidence
					
		
	
				Authors
	
	
									Lopez-Rios J; Duchesne A; Speziale D; Andrey G; Peterson KA; Germann P; Unal E; Liu J; et al.
									
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							Abstract
					
		
																			The large spectrum of limb morphologies reflects the wide evolutionary diversification of the basic pentadactyl pattern in tetrapods. In even-toed ungulates (artiodactyls, including cattle), limbs are adapted for running as a consequence of progressive reduction of their distal skeleton to symmetrical and elongated middle digits with hoofed phalanges. Here we analyse bovine embryos to establish that polarized gene expression is progressively lost during limb development in comparison to the mouse. Notably, the transcriptional upregulation of the Ptch1 gene, which encodes a Sonic hedgehog (SHH) receptor, is disrupted specifically in the bovine limb bud mesenchyme. This is due to evolutionary alteration of a Ptch1 cis-regulatory module, which no longer responds to graded SHH signalling during bovine handplate development. Our study provides a molecular explanation for the loss of digit asymmetry in bovine limb buds and suggests that modifications affecting the Ptch1 cis-regulatory landscape have contributed to evolutionary diversification of artiodactyl limbs. 
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
					   		Related Genes
					
					
													No matches found.
											
				
								Related Haplotypes
					
					
													No matches found.
											
				
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