OMIA 001454-9615 : Coat colour, harlequin in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 604030 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: 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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
33 Great Dane 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.

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.
2021 Brancalion, L., Haase, B., Wade, C.M. :
Canine coat pigmentation genetics: a review. Anim Genet :, 2021. 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