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OMIA 002228-9615 : Coat colour, pigment intensity in Canis lupus familiaris

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2020

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."

Associated gene:

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

Variants

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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.

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
Nova Scotia Duck Tolling retriever Poodle Pigment intensity KITLG repeat variation 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
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Reference


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:, 2020. Pubmed reference: 31936656. DOI: 10.3390/genes11010075.

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  • Created by Frank Nicholas on 27 Jan 2020