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H316

The 20S proteasome ß2 subunit (PSMB7) gene is responsible for the Harlequin coat pattern in Great Danes.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

The 20S proteasome ß2 subunit (PSMB7) gene is responsible for the Harlequin coat pattern in Great Danes. This gene is 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 gene can modify the Merle gene. The Harlequin pattern is only expressed if on the M-locus at least one copy of the M allele is present in combination with at least one copy of the E or Em allele on the E-locus.

Clinical features

Dogs that are not merle, or only have red pigment, cannot express the Harlequin gene. The dominant Merle gene produces dark spots on a solid or piebald background. 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).

Additional information

References

Pubmed ID: 21256207

Omia ID: 1454

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