GEPHE SUMMARY
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									Gephebase Gene
					
		
	
									Entry Status
					
		
													Published
					
	
									GepheID
					
		
													GP00000530
					
	
									Main curator
					
		
													Martin
					
	
            		PHENOTYPIC CHANGE
            	            
	                
	
									Trait Category
					
		
	
									Trait State in Taxon A
					
		
													Homo sapiens
					
	
									Trait State in Taxon B
					
		
													Homo sapiens
					
	
									Ancestral State
					
		
													Data not curated
					
	
									Taxonomic Status
					
		
	Taxon A
					
									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 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
					
		
																			LCT
					
	
									Synonyms
					
		
																			LAC; LPH; LPH1
					
	
									String
					
		
	
									Sequence Similarities
					
		
																			Belongs to the glycosyl hydrolase 1 family.
					
	
							GO - Molecular Function
						
						
																														GO:0008422 : beta-glucosidase activity
							
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							GO - Biological Process
						
						
																														GO:0005975 : carbohydrate metabolic process
							
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							GO - Cellular Component
						
						
																														GO:0005886 : plasma membrane
							
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									Presumptive Null
					
		
	
									Molecular Type
					
		
	
									Aberration Type
					
		
	
									Molecular Details of the Mutation
					
		
													C-13907G
					
	
									Experimental Evidence
					
		
	
				Authors
	
	
									Tishkoff SA; Reed FA; Ranciaro A; Voight BF; Babbitt CC; Silverman JS; Powell K; Mortensen HM; et al.
									
					... show more
										
							Abstract
					
		
																			A SNP in the gene encoding lactase (LCT) (C/T-13910) is associated with the ability to digest milk as adults (lactase persistence) in Europeans, but the genetic basis of lactase persistence in Africans was previously unknown. We conducted a genotype-phenotype association study in 470 Tanzanians, Kenyans and Sudanese and identified three SNPs (G/C-14010, T/G-13915 and C/G-13907) that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro. These SNPs originated on different haplotype backgrounds from the European C/T-13910 SNP and from each other. Genotyping across a 3-Mb region demonstrated haplotype homozygosity extending >2.0 Mb on chromosomes carrying C-14010, consistent with a selective sweep over the past approximately 7,000 years. These data provide a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits-animal domestication and adult milk consumption.
					
	
				Additional References
	
	
            RELATED GEPHE
        
	
					   		Related Genes
					
					
													No matches found.
											
				
								Related Haplotypes
					
					
				
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