Coat Colour H-locus (Harlequin)
        
            Breeds
        
    
    
                
                Relevance Rating: There is moderate evidence or research available  in this breed 
                
            
            
            
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
        
        
        
            GTPs
        
    
    General
        
            Disease Name
        
    
    
            Coat Colour H-locus (Harlequin)
            
        
        
        
            OMIA
        
    
    
            1454
            
        
        
        
            Gene Name
        
    
    
            PSMB7
            
        
        
        
            Mutation
        
    
    
            c.146T>G
            
        
        
        
            Mutation 2
        
    
    
            p.V6G
            
        
        
        
            Test Type
        
    
    
            Other Genetic Traits
            
        
        
        
            Details
        
    
    
            Harlequin coat pattern in Great Danes is influenced by the PSMB7 gene, also known as H-Locus. Harlequin is a pattern resulting from interaction of the Merle (M-locus) gene and the Harlequin (H-locus) gene on black pigment. The Harlequin pattern is only expressed if a dog has at least one copy of the M allele in combination with at least one copy of the E or Em allele on the E-locus. If a Merle dog also inherits one copy of the Harlequin gene, the dark spots increase in size and the background pigment is removed (turns white). The result is the characteristic "torn" spots as opposed as the round spots on a Dalmatian. The coat pattern starts to become apparent within a few hours after birth, to full expression several weeks after birth. Please note, that the Harlequin mutation in Great Danes is in homozygous state (two copies of the mutation) considered embryonic lethal as no live dogs with two copies of the mutation have been observed. Many registration bodies and Breed Clubs ban or discourage any matings between Harlequin x Harlequin dogs for this reason.
            
        
        
        
            Details 2
        
    
    
            Harlequin coat pattern in Great Danes is influenced by the PSMB7 gene, also known as H-Locus. Harlequin is a pattern resulting from interaction of the Merle (M-locus) gene and the Harlequin (H-locus) gene on black pigment. The Harlequin pattern is only expressed if a dog has at least one copy of the M allele in combination with at least one copy of the E or Em allele on the E-locus. If a Merle dog also inherits one copy of the Harlequin gene, the dark spots increase in size and the background pigment is removed (turns white). The result is the characteristic "torn" spots as opposed as the round spots on a Dalmatian. The coat pattern starts to become apparent within a few hours after birth, to full expression several weeks after birth.
            
        
        
        
            Published
        
    
    
            Clark, LA., Tsai, KL., Starr, AN., Nowend, KL., Murphy, KE. : A missense mutation in the 20S proteasome ?2 subunit of Great Danes having harlequin coat patterning. Genomics 97:244-8, 2011. Pubmed reference: 21256207. DOI: 10.1016/j.ygeno.2011.01.003
            
        
        
        
            Published 2
        
    
    
            Clark, LA., Starr, AN., Tsai, KL., Murphy, KE. : Genome-wide linkage scan localizes the harlequin locus in the Great Dane to chromosome 9. Gene 418:49-52, 2008. Pubmed reference: 18513894. DOI: 10.1016/j.gene.2008.04.006.
            
        
        
        
            Published 3
        
    
    
            O'Sullivan, N., Robinson, R. : Harlequin colour in the Great Dane dog. Genetica 78:215-8, 1988. Pubmed reference: 3270445.
            
        
        
        
            Published 4
        
    
    
            Sponenberg, D.P. : Inheritance of the harlequin color in Great Dane dogs Journal of Heredity 76:224-225, 1985. Pubmed reference: 3998446.
            
        
        
        
            Body/System/Process
        
    
    
            Coat Colour/Pattern/Type
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
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        Breed Specific Info
        
            Researched Breeds
        
    
    
            Great Dane
            
        
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