OMIA 001416-9615 : Coat colour, dominant black in Canis lupus familiaris |
In other species:
gray wolf
,
coyote
,
water buffalo
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)".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CBD103 | beta-defensin 103 | Canis lupus familiaris | 16 | NC_006598.3 (58966773..58965216) | CBD103 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Coat colour, dominant black | CBD103 | deletion, small (<=20) | CanFam3.1 | 16 | g.58965449_58965451ins>del | "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)" | 2007 | 17947548 | Genomic location and other details provided by Professor Claire Wade August 2018. |
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.
| 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