OMIA 001416-9615 : Coat colour, dominant black in Canis lupus familiaris

In other species: gray wolf , coyote , water buffalo

Possibly relevant human trait(s) and/or gene(s) (MIM number): 606611 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2007

Cross-species summary: Also known as the K locus

History: Kerns et al. (2003) designated this locus as the K locus.

Molecular basis: Candille et al. (2007) reported the causal mutation as "a 3–base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)".

Prevalence: Ollivier et al. (2003) reported that "Our results suggest that the KB allele was present in European dogs as early as the Mesolithic 11 000 to 8 000 cal. BP (a remain from an homozygote dog-morphotype specimen has been found in Icoana, Romania, . . . ). To our knowledge there is no earlier evidence of “black” dogs (nor wolves) in Eurasia."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CBD103 beta-defensin 103 Canis lupus familiaris 16 NC_051820.1 (57081626..57083181) CBD103 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
458 Coat colour, dominant black CBD103 ΔG23 = K^B deletion, small (<=20) Naturally occurring variant CanFam3.1 16 g.58965449_58965451del c.231_233del p.(G78del) "a 3-base pair (bp) deletion in the second exon of CBD103, the ortholog of human DEFB103, that predicts an in-frame glycine deletion (ΔG23)" rs851502010 rs851502010 2007 17947548 Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)

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 Hrckova Turnova, E., Bielikova, M., Kostal, V., Turna, J., Dudas, A. :
Occurrence of the dominant black K^B allele of CBD103 in German Shepherd dogs. Anim Genet :, 2022. Pubmed reference: 35037272. DOI: 10.1111/age.13171.
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.
2013 Ollivier, M., Tresset, A., Hitte, C., Petit, C., Hughes, S., Gillet, B., Duffraisse, M., Pionnier-Capitan, M., Lagoutte, L., Arbogast, R.M., Balasescu, A., Boroneant, A., Mashkour, M., Vigne, J.D., Hänni, C. :
Evidence of coat color variation sheds new light on ancient canids. PLoS One 8:e75110, 2013. Pubmed reference: 24098367. DOI: 10.1371/journal.pone.0075110.
2011 Oguro-Okano, M., Honda, M., Yamazaki, K., Okano, K. :
Mutations in the melanocortin 1 receptor, β-defensin103 and agouti signaling protein genes, and their association with coat color phenotypes in Akita-inu dogs. J Vet Med Sci 73:853-8, 2011. Pubmed reference: 21321476.
2009 Anderson, TM., Vonholdt, BM., Candille, SI., Musiani, M., Greco, C., Stahler, DR., Smith, DW., Padhukasahasram, B., Randi, E., Leonard, JA., Bustamante, CD., Ostrander, EA., Tang, H., Wayne, RK., Barsh, GS. :
Molecular and evolutionary history of melanism in North American gray wolves. Science 323:1339-43, 2009. Pubmed reference: 19197024. DOI: 10.1126/science.1165448.
2007 Candille, SI., Kaelin, CB., Cattanach, BM., Yu, B., Thompson, DA., Nix, MA., Kerns, JA., Schmutz, SM., Millhauser, GL., Barsh, GS. :
A beta-defensin mutation causes black coat color in domestic dogs. Science 318:1418-23, 2007. Pubmed reference: 17947548. DOI: 10.1126/science.1147880.
Kerns, JA., Cargill, EJ., Clark, LA., Candille, SI., Berryere, TG., Olivier, M., Lust, G., Todhunter, RJ., Schmutz, SM., Murphy, KE., Barsh, GS. :
Linkage and segregation analysis of black and brindle coat color in domestic dogs. Genetics 176:1679-89, 2007. Pubmed reference: 17483404. DOI: 10.1534/genetics.107.074237.
2005 Hirobe, T. :
Role of keratinocyte-derived factors involved in regulating the proliferation and differentiation of mammalian epidermal melanocytes. Pigment Cell Res 18:2-12, 2005. Pubmed reference: 15649147. DOI: 10.1111/j.1600-0749.2004.00198.x.
2003 Kerns, JA., Olivier, M., Lust, G., Barsh, GS. :
Exclusion of melanocortin-1 receptor (mc1r) and agouti as candidates for dominant black in dogs. J Hered 94:75-9, 2003. Pubmed reference: 12692166.

Edit History


  • Created by Frank Nicholas on 20 Nov 2010
  • Changed by Frank Nicholas on 10 Aug 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 18 Dec 2020
  • Changed by Imke Tammen2 on 20 Jan 2022