Coat Colour H-locus (Harlequin)
Breed: ALL
Generic Phene Data
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
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
AD
Breed Specific Info
Researched Breeds
Great Dane
HSP Test-Specific Data
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
GTP- or Breed-Specific Publications
Clark LA, KL Tsai, AN Starr, KL Nowend and KE Murphy. 2011. A missense mutation in the 20S proteasome ?2 subunit of Great Danes having harlequin coat patterning. Genomics 97(4):244-248.
FCI Number
-20
GTP Breed
ALL
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
FCI Number
-20
GTP Breed
ALL
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
Gene Name
PSMB7
Mutation
c.146T>G
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
-20
GTP Breed
ALL