Harlequin Pattern In Great Danes

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(H-Locus) Harlequin Pattern In Great Danes

Description:

Harlequin is a coat pattern recognized only in the Great Dane breed. Research conducted by Dr. Leigh Anne Clark at Clemson University identified a variant, T>G in the PSMB7 gene as the mutation associated with the Harlequin phenotype.

 

The Harlequin pattern is a result of a complex interaction between variances in the Merle (PMEL17) and the Harlequin (PSMB7) genes. The Harlequin variant acts as a modifier of Merle and all harlequin dogs must have one or two copies of the mutation responsible for Merle. Harlequin cannot be expressed in dogs that are not Merle, or only have red pigment.

 

The dominant Merle gene, by itself produces a coat consisting of dark spots on a diluted background. If a Merle dog also inherits a single copy of the Harlequin gene, the dark spots increase in size and the background pigment is eliminated.

 

Harlequin is presumed to be homozygous embryonic lethal as no animals have been observed with 2 copies of the mutated gene. There for, all Harlequin patterned dogs have 1 copy of the mutated gene.

 

According to research conducted Dr. Leigh Anne Clark over 59% of Harlequin-bred blacks or non Merle dogs (includes Mantles) carry the harlequin mutation.

H Locus Testing:

Animal Genetics offers a test for the H-Locus to determine if your dog carries a copy of the gene mutation. Dogs can be DNA tested at ANY age.

Sample Type:

Animal Genetics accepts buccal swab, blood, and dewclaw samples for testing. Sample collection kits are available and can be ordered at Canine Test Now.

Testing Is Relevant For The Following Breeds:

Great Dames.

Results:

Animal Genetics offers DNA testing for PSMB7 mutation. The genetic test verifies the presence of the mutation and presents results as one of the following:

Harlequin Pattern Results:

H/H Lethal Embryonic lethal
N/H Black Animal tests positive for 1 copy of the PSMB7 mutation. Harlequin mutation is present. In order to express the Harlequin pattern the dog must carry at least one copy of both Merle (M) and on copy of black (E) pigment. When breeding 2 N/H dogs there is a 25% chance of an embryonic lethal offspring.
N/N Brown Animal tests negative for PSMB7 mutation. No copies of Harlequin mutation are present.

References:

Clark LA, KL Tsai, AN Starr, KL Nowend and KE Murphy. 2011. A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning. Genomics 97(4):244-248.