MC1R variants affect the expression of melanocortin and melanogenic genes and the association between melanocortin genes and coloration.
The melanocortin-1 receptor (MC1R) gene influences coloration by altering the expression of genes acting downstream in the melanin synthesis. MC1R belongs to the melanocortin system, a genetic network coding for the ligands that regulate MC1R and other melanocortin receptors controlling different physiological and behavioural traits. The impact of MC1R variants on these regulatory melanocortin genes was never considered, even though MC1R mutations could alter the influence of these genes on coloration (e.g. by decreasing MC1R response to melanocortin ligands). Using barn owl growing feathers, we investigated the differences between MC1R genotypes in the (co)expression of six melanocortin and nine melanogenic-related genes and in the association between melanocortin gene expression and phenotype (feather pheomelanin content). Compared to the MC1R rufous allele, responsible for reddish coloration, the white allele was not only associated with an expected lower expression of melanogenic-related genes (TYR, TYRP1, OCA2, SLC45A2, KIT, DCT) but also with a lower MC1R expression and a higher expression of ASIP, the MC1R antagonist. More importantly, the expression of PCSK2, responsible for the maturation of the MC1R agonist, α-melanocyte-stimulating hormone, was positively related to pheomelanin content in MC1R white homozygotes but not in individuals carrying the MC1R rufous allele. These findings indicate that MC1R mutations not only alter the expression of melanogenic-related genes but also the association between coloration and the expression of melanocortin genes upstream of MC1R. This suggests that MC1R mutations can modulate the regulation of coloration by the pleiotropic melanocortin genes, potentially decoupling the often-observed associations between coloration and other phenotypes.
Department of Ecology and Evolution, University of Lausanne, Biophore Building, CH-1015, Lausanne, Switzerland.
Luis M
LM
San-Jose
Department of Ecology and Evolution, University of Lausanne, Biophore Building, CH-1015, Lausanne, Switzerland.
Anne-Lyse
AL
Ducrest
Department of Ecology and Evolution, University of Lausanne, Biophore Building, CH-1015, Lausanne, Switzerland.
Valérie
V
Ducret
Department of Ecology and Evolution, University of Lausanne, Biophore Building, CH-1015, Lausanne, Switzerland.
Céline
C
Simon
Centre for Integrative Genomics, Genomic Technologies Facility, University of Lausanne, Genopode Building, CH-1015, Lausanne, Switzerland.
Hannes
H
Richter
Department of Chemistry, Fujita Health University School of Health Sciences, Toyoake, Aichi, 470-1192, Japan.
Kazumasa
K
Wakamatsu
Department of Ecology and Evolution, University of Lausanne, Biophore Building, CH-1015, Lausanne, Switzerland.
Alexandre
A
Roulin
D000483:Alleles; D000818:Animals; D005241:Feathers; D053263:Gene Regulatory Networks; D005838:Genotype; D053486:Melanocortins / Q000235:genetics*; D010858:Pigmentation / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D020305:Strigiformes / Q000235:genetics*
D053486:Melanocortins; D044102:Receptor, Melanocortin, Type 1
barn owl; colour genetics; colour polymorphism; gene expression; melanin; pleiotropy