OMIA:002228-9615 : Coat colour, phaeomelanin dilution, KITLG-related in Canis lupus familiaris
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611664 (trait) , 184745 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2020
Cross-species summary: or pheomelanin dilution, pigment intensity
Molecular basis: Weich et al. (2020) " identified a 6 kb copy number variant (CNV) 152 kb upstream of KITLG . . . [showing] a significant association between an increased copy number with the dark-red coat color [pheomelanin pigment intensity] in NSDTR". The authors also reported that the same CNV is " significantly associated with coat color variation in both eumelanin and pheomelanin-based Poodles . . . and across other breeds. Moreover, the copy number correlated with pigment intensity along the hair shaft in both pheomelanin and eumelanin coats."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KITLG||KIT ligand||Canis lupus familiaris||15||NC_051819.1 (30311189..30230533)||KITLG||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|
|1145||Nova Scotia Duck Tolling retriever Poodle||Pigment intensity||KITLG||repeat variation||Naturally occurring variant||CanFam3.1||15||Weich et al. (2020): "the reference genome shows two tandem copies of the CNV spanning a region of approximately 12 kb. The CNV is located in an intergenic region about 152 kb upstream from the closest gene, KITLG." 200922: g. info moved here (g.29821450_29832950) until it can be standardised||2020||31936656|
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||[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.|
|2021||Bannasch, D.L., Affolter, V.K., York, D., Rebhun, R.B., Grahn, R.A., Weich, K.M., Kallenberg, A. :|
|Correction: Weich, K., et al. Pigment intensity in dogs is associated with a copy number variant upstream of KITLG. Genes 2020, 11, 75. Genes (Basel) 12:, 2021. Pubmed reference: 33804589 . DOI: 10.3390/genes12030357.|
|2020||Weich, K., Affolter, V., York, D., Rebhun, R., Grahn, R., Kallenberg, A., Bannasch, D. :|
|Pigment intensity in dogs is associated with a copy number variant upstream of <i>KITLG</i>. Genes (Basel) 11:75, 2020. Pubmed reference: 31936656 . DOI: 10.3390/genes11010075.|
- Created by Frank Nicholas on 27 Jan 2020
- Changed by Imke Tammen2 on 20 Apr 2021