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Coat Colour H-locus (Harlequin)

Breed: Great Dane

Generic Phene Data

Breeds

General

Disease Name
Coat Colour H-locus (Harlequin)
Disease Name 2
Harelquin Coat Color
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
Inheritance
AD

Breed Specific Data

CAG GmbH Center for Animal Genetics

Link to GTP
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test

DNA My Dog

Link to GTP
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
Breed
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test

Laboklin Gmbh & Co. KG

Link to GTP
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Nature of test
mutation test

Paw Print Genetics

Link to GTP
Breed
Gene Name
PSMB7
Mutation
c.146T>G; p.V6G
Nature of test
mutation test
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