Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color phenotype

Dávila, S. G.; Gil, M. G.; Resino-Talaván, P.; Campo, J. L.

doi:10.3382/ps.2013-03611

Cited by 25 publications

(33 citation statements)

References 24 publications

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“…As typically observed in the Ko‐Shamo breed, wheaten‐colour females possessed the H2 haplotype (A427G, Thr143Ala), supporting the previous reports that A427G substitution enhances the production of pheomelanin and leads to wheaten‐coloured plumage (Ellett & Okimoto , Ling et al ; Guo et al, ; Dávila et al ). The Nagoya breed, which has buff columbian plumage, was fixed with the wheaten allele (A427G; H2 haplotype in the present study), which is in accordance with the finding of Takeuchi et al ().…”

Section: Discussionsupporting

confidence: 80%

“…The breeds in which both sexes exhibit wt (black‐breasted red) or wt‐like plumage patterns (Iwate‐Jidori, Kawachi Yakko, Koeyoshi, Minohiki Chabo, Onagadori, Ryujin‐Jidori, Satsumadori, Tosa‐Jidori, Shôkoku, Tôtenkô, Uzura Chabo and Brown Leghorn), possessed the same haplotypes (H0 and H1 in the present study) as reported for the wt in the literature (GenBank: ; Kerje et al and Ellett & Okimoto ; Ling et al ), despite their feather pigmentation, apparently supporting the accuracy of the previous studies. Exceptionally, the black‐breasted white variety of Satsumadori did not possess the wt haplotypes (H0 and H1), and was fixed with the haplotype H6 (buttercup, e bc ) (Ellett & Okimoto ; Ling et al ; Tixier‐Boichard et al ; Guo et al, ; Dávila et al ), although this variety possessed a wt plumage pattern. This is the first finding in this breed.…”

Section: Discussionmentioning

confidence: 99%

“…For example, the non‐synonymous amino acid substitution Glu92Lys resulting from the MC1R gene mutation is associated with melanic plumage in several avian species including chickens, Japanese quail, blue‐breasted quail and bananaquit, and coat colour in several mammalian species including mice, pigs and sheep (Takeuchi et al ; Kerje et al ; Nadeau et al ; Kageyama et al ; Theron et al ; Robbins et al ; Kijas et al ; Våge et al ). In chickens, the MC1R gene is an intron‐less single exon gene on chromosome 11 (Takeuchi et al ; Schioth et al ) and is apparently associated with a traditional plumage colour locus extended black ( E ), including extended black ( E ), birchen ( E R ), dominant wheaten ( e wh ), wt ( e + ), brown ( e b ), buttercup ( e bc ) and recessive wheaten ( e y ) alleles (Smyth ; Tixier‐Boichard et al ; Yang et al ; Guo et al ; Dávila et al ). Among these genes, no difference was observed between e wh and e y and between e b and e bc in the ORF of the MC1R gene (Ellett & Okimoto ; Ling et al ; Kerje et al ).…”

Section: Introductionmentioning

confidence: 99%

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Discovery of a new nucleotide substitution in the MC1R gene and haplotype distribution in native and non‐Japanese chicken breeds

et al. 2020

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Summary Melanocortin 1‐receptor (MC1R) is one of the major genes that controls chicken plumage colour. In this study, we investigated the sequence and haplotype distribution of the MC1R gene in native Japanese chickens, along with non‐Japanese chicken breeds. In total, 732 and 155 chickens from 30 Japanese and eight non‐Japanese breeds respectively were used. Three synonymous and 11 non‐synonymous nucleotide substitutions were detected, resulting in 15 haplotypes (H0–H14). Of these, three were newly found haplotypes (H9, H13 and H14), of which one (H9) was composed of known substitutions C69T, T212C, G274A and G636A. The second one (H13) possessed newly found non‐synonymous substitution C919G, apart from the known substitutions C69T, G178A, G274A, G636A and T637C. The third one (H14) comprised a newly discovered substitution C919G in addition to the known C69T, G274A and G409A substitutions. The homozygote for this new haplotype exhibited wt like plumage despite the presence of G274A. In addition to discovering a new nucleotide substitution (C919G) and three new haplotypes, we defined the plumage colour of the bird that was homozygous for the A644C substitution (H5 haplotype) as wheaten‐like for the first time; although the substitution has been already reported, its effect was not revealed. Besides detecting the new plumage colour, we also confirmed that the A427G and G274A substitutions contribute in expressing brownish and black plumage colour respectively, as reported by the previous studies. Moreover, we confirmed that the buttercup allele does not express black plumage despite possessing a G274A substitution, under the suppression effect of A644C. In contrast, the birds homozygous for the birchen allele presented solid black plumage, which was contradictory to the previous reports. In conclusion, we revealed a large diversity in the MC1R gene of native Japanese chicken breeds, along with the discovery of a new non‐synonymous nucleotide substitution (C919G) and three novel haplotypes (H9, H13 and H14).

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Section: Discussionsupporting

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Discovery of a new nucleotide substitution in the MC1R gene and haplotype distribution in native and non‐Japanese chicken breeds

et al. 2020

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“…; Dávila et al . ). The V126I mutation found here in the barn owl is located in the third transmembrane domain of the MC1R (Fig.…”

Section: Discussionmentioning

confidence: 97%

Effect of the MC1R gene on sexual dimorphism in melanin‐based colorations

et al. 2015

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Variants of the melanocortin-1 receptor (MC1R) gene result in abrupt, naturally selected colour morphs. These genetic variants may differentially affect sexual dimorphism if one morph is naturally selected in the two sexes but another morph is naturally or sexually selected only in one of the two sexes (e.g. to confer camouflage in reproductive females or confer mating advantage in males). Therefore, the balance between natural and sexual selections can differ between MC1R variants, as suggest studies showing interspecific correlations between sexual dimorphism and the rate of nonsynonymous vs. synonymous amino acid substitutions at the MC1R. Surprisingly, how MC1R is related to within-species sexual dimorphism, and thereby to sex-specific selection, has not yet been investigated. We tackled this issue in the barn owl (Tyto alba), a species showing pronounced variation in the degree of reddish pheomelanin-based coloration and in the number and size of black feather spots. We found that a valine (V)-to-isoleucine (I) substitution at position 126 explains up to 30% of the variation in the three melanin-based colour traits and in feather melanin content. Interestingly, MC1R genotypes also differed in the degree of sexual colour dimorphism, with individuals homozygous for the II MC1R variant being 2 times redder and 2.5 times less sexually dimorphic than homozygous individuals for the VV MC1R variant. These findings support that MC1R interacts with the expression of sexual dimorphism and suggest that a gene with major phenotypic effects and weakly influenced by variation in body condition can participate in sex-specific selection processes.

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“…Melanocyte pigment production is dependent upon the Golgi apparatus and smooth endoplasmic activities. Perturbations to this delicate process appear to correlate with allelic alterations at certain loci (eg, “extended black” loci [ E ]) . For example, the characteristic white feathering present in White Leghorns is the result of a lack of pigment production, likely because of a loss‐of‐function mutation in the melanocortin 1‐receptor ( MC1R ), which is responsible for the accumulation of the eumelanin precursor (tyrosine) in the cytoplasm of melanocytes .…”

Section: Introductionmentioning

confidence: 99%

Morphological diversity of integumentary traits in fowl domestication: Insights from disparity analysis and embryonic development

Núñez-León

Aguirre-Fernández

Steiner

et al. 2019

Developmental Dynamics

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The domestication of the fowl resulted in a large diversity of integumental structures in chicken breeds. Several integumental traits have been investigated from a developmental genetics perspective. However, their distribution among breeds and their developmental morphology remain unexplored. We constructed a discrete trait‐breed matrix and conducted a disparity analysis to investigate the variation of these structures in chicken breeds; 20 integumental traits of 72 chicken breeds and the red junglefowl were assessed. The analyses resulted in slight groupings of breed types comparable to standard breed classification based on artificial selection and chicken type use. The red junglefowl groups together with bantams and European breeds. We provide new data on the red junglefowl and four chicken breeds, demonstrating where and when variation arises during embryonic development. We document variation in developmental timing of the egg tooth and feather formation, as well as other kinds of developmental patterning as in the anlagen of different type of combs. Changes in epithelial‐mesenchymal signaling interactions may drive the highly diverse integument in chickens. Experimental and comparative work has revealed that the cranial neural crest mesenchyme mediates its interactions with the overlying epithelium and is the likely source of patterning that generates diversity in integumental structures.

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Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color phenotype

Cited by 25 publications

References 24 publications

Discovery of a new nucleotide substitution in the MC1R gene and haplotype distribution in native and non‐Japanese chicken breeds

Discovery of a new nucleotide substitution in the MC1R gene and haplotype distribution in native and non‐Japanese chicken breeds

Effect of the MC1R gene on sexual dimorphism in melanin‐based colorations

Morphological diversity of integumentary traits in fowl domestication: Insights from disparity analysis and embryonic development

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