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