Harlequin colour pattern

The harlequin coat refers to a type of coat coloration pattern characterized by a white background with darker shaded spots.

Definition

The harlequin trait refers to a characteristic coat pattern corresponding to a white background with darker colored spots. The variant is found in the PSMB7 gene (also known as the H locus), which encodes one of the subunits that are part of the proteasome.

Genetic basis

The harlequin trait presents a dominant form of inheritance, therefore, the presence of a single copy of the c.146T>G variant increases the probability of presenting the trait. Even so, at least one copy of the variant encoding the merle trait at the M locus (not analyzed in our test) is required for the trait to be expressed. Presenting two copies of the c.146T>G variant poses a risk, as it causes death in early stages of embryogenesis. For this reason, crossing two dogs carrying one or two copies of the c.146T>G variant is not recommended.

Other relevant information

The trait arises as a consequence of the interaction of the PMEL gene (M locus) and the PSMB7 gene (H locus). The presence of one copy of the variant at the M locus and one copy of the variant at the H locus is sufficient to express the "harlequin" colouring pattern. In addition to this gene interaction, the A locus can also interfere with the final expression of the phenotype. This type of characteristic colouring pattern is present only in the Great Dane breed.

Bibliography

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