OMIA:001416-9615 : Coat colour, dominant black in Canis lupus familiaris
In other species: gray wolf , coyote , water buffalo
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 606611 (gene)
Links to MONDO diseases: No links.
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."
|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|
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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||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 (Î”G23)"||rs851502010||rs851502010||2007||17947548||Genomic location provided by Professor Claire Wade August 2018. Allele designations taken from Ollivier et al. (2013)|
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.
|2023||Arizmendi, A., Rudd Garces, G., Crespi, J.A., Olivera, L.H., Barrientos, L.S., Peral García, P., Giovambattista, G. :|
|Analysis of Doberman Pinscher and Toy Poodle samples with targeted next-generation sequencing. Gene 853:147069, 2023. Pubmed reference: 36427679 . DOI: 10.1016/j.gene.2022.147069.|
|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.|
|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 53:230-231, 2022. Pubmed reference: 35037272 . DOI: 10.1111/age.13171.|
|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 .|
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