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. 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.
| 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