OMIA 002228-9615 : Coat colour, phaeomelanin dilution, KITLG-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611664 (trait) , 184745 (gene)

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."

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

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.

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

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.
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.
Brancalion, L., Haase, B., Wade, C.M. :
Canine coat pigmentation genetics: a review. Anim Genet :, 2021. Pubmed reference: 34751460. DOI: 10.1111/age.13154.
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.

Edit History


  • Created by Frank Nicholas on 27 Jan 2020
  • Changed by Imke Tammen2 on 20 Apr 2021