Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color that involves darkly pigmented skin. The genetic basis of this color, due to the absence of pigment in the hairs, was suggested to correspond t...

Full description

Saved in:
Bibliographic Details
Published in:Genes 2019-05, Vol.10 (5), p.386
Main Authors: Hédan, Benoit, Cadieu, Edouard, Botherel, Nadine, Dufaure de Citres, Caroline, Letko, Anna, Rimbault, Maud, Drögemüller, Cord, Jagannathan, Vidhya, Derrien, Thomas, Schmutz, Sheila, Leeb, Tosso, André, Catherine
Format: Article
Language:English
Subjects:
Animals
Chromosome 20
Chromosomes
Coloration
Consortia
dog breeds
Dogs
Domestication
exons
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype & phenotype
horses
Horses - genetics
humans
Hypotheses
Life Sciences
loci
Melanins - genetics
Membrane Proteins - genetics
Mice
Mutation, Missense
Pigmentation
sequence analysis
Skin Pigmentation - genetics
Whole genome sequencing
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color that involves darkly pigmented skin. The genetic basis of this color, due to the absence of pigment in the hairs, was suggested to correspond to extreme dilution of the phaeomelanin, by both the expression of only phaeomelanin (locus E) and its extreme dilution (locus I). To go further, we performed genome-wide association studies (GWAS) using a multiple breed approach. The first GWAS, using 34 white dogs and 128 non-white dogs, including White Shepherds, Poodles, Cotons de Tulear and Bichons allowed us to identify two significantly associated loci on the locus E and a novel locus on chromosome 20. A second GWAS using 15 other breeds presenting extreme phaeomelanin dilution confirmed the position of locus I on the chromosome 20 (position 55 Mb = 6 × 10 ). Using whole-genome sequencing, we identified a missense variant in the first exon of , a gene recently identified to be involved in human, mouse and horse pigmentation. We confirmed the role of this variant in phaeomelanin dilution of numerous canine breeds, and the conserved role of in mammalian pigmentation.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes10050386