OMIA:001454-9615 : Coat colour, harlequin in Canis lupus familiaris (dog) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604030 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: no
Key variant known: yes
Year key variant first reported: 2011
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
PSMB7 | proteasome subunit beta 7 | Canis lupus familiaris | 9 | NC_051813.1 (59449060..59512699) | PSMB7 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
33 | Great Dane (Dog) | Harlequin | PSMB7 | missense | Naturally occurring variant | CanFam3.1 | 9 | g.58530295T>G | c.146T>G | p.(V49G) | XM_022422504.1; XP_022278212.1 | 2011 | 21256207 | Genomic position in CanFam3.1 provided by Mateo Etcheveste. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:001454-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2022 | [No authors listed] : |
Canine coat pigmentation genetics: a review. Anim Genet 53:474-475, 2022. Pubmed reference: 35510419. DOI: 10.1111/age.13185. | |
Brancalion, L., Haase, B., Wade, C.M. : | |
Canine coat pigmentation genetics: a review. Anim Genet 53:33-34, 2022. Pubmed reference: 34751460. DOI: 10.1111/age.13154. | |
2019 | Dreger, D.L., Hooser, B.N., Hughes, A.M., Ganesan, B., Donner, J., Anderson, H., Holtvoigt, L., Ekenstedt, K.J. : |
True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One 14:e0223995, 2019. Pubmed reference: 31658272. DOI: 10.1371/journal.pone.0223995. | |
2011 | Clark, LA., Tsai, KL., Starr, AN., Nowend, KL., Murphy, KE. : |
A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning. Genomics 97:244-8, 2011. Pubmed reference: 21256207. DOI: 10.1016/j.ygeno.2011.01.003. | |
2008 | 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. | |
1988 | O'Sullivan, N., Robinson, R. : |
Harlequin colour in the Great Dane dog. Genetica 78:215-8, 1988. Pubmed reference: 3270445. | |
1985 | Sponenberg, D.P. : |
Inheritance of the harlequin color in Great Dane dogs Journal of Heredity 76:224-225, 1985. Pubmed reference: 3998446. |
Edit History
- Created by Frank Nicholas on 12 Jul 2011
- Changed by Frank Nicholas on 10 Aug 2011
- Changed by Frank Nicholas on 26 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011