Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L99P
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MC1R

NM_002386.4:p.L99P

Associated Papers

Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.

Wang Z et al.

Cell Genomics, 2025

40712570 (PubMed )
Supplement: mmc4.xlsx › Table_S7

Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats.

Kawaguchi F et al.

Animals : an Open Access Journal From Mdpi, 2025

Genetic diversity and recent ancestry based on whole-genome sequencing of endangered Swedish cattle breeds.

Harish A et al.

Bmc Genomics, 2024

Open AccessLack of association between coat color abnormalities in Bali cattle (Bos javanicus) and the coding regions of the MC1R and KIT genes.

Jakaria J et al.

Veterinary World, 2023

Hereditary Basis of Coat Color and Excellent Feed Conversion Rate of Red Angus Cattle by Next-Generation Sequencing Data.

He Y et al.

Animals : an Open Access Journal From Mdpi, 2022

Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds.

Hauser M et al.

Animal Genetics, 2022

Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Goud TS et al.

Journal, Genetic Engineering & Biotechnology, 2021

[Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed].

Hauser M et al.

Schweizer Archiv Fur Tierheilkunde, 2020

Identification and sequence characterization of melanocortin 1 receptor gene (MC1R) in Bos indicus versus (Bos taurus X Bos indicus).

Goud TS et al.

Animal Biotechnology, 2020

MC1R and KIT Haplotypes Associate With Pigmentation Phenotypes of North American Yak (Bos grunniens).

Petersen JL et al.

The Journal of Heredity, 2020

Genotypes and allele frequencies of buried SNPs in a bovine single-nucleotide polymorphism array in Japanese Black cattle.

Sasaki S et al.

Animal Science Journal = Nihon Chikusan Gakkaiho, 2019

Identification of MC1R SNPs and their Association with Plumage Colors in Asian Duck.

Sultana H et al.

The Journal of Poultry Science, 2017

Temporal variation in coat colour (genotypes) supports major changes in the Nordic cattle population after Iron Age.

Niemi M et al.

Animal Genetics, 2016

The genetics of brown coat color and white spotting in domestic yaks (Bos grunniens).

Zhang MQ et al.

Animal Genetics, 2014

Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian Blue Cattle.

Druet T et al.

Bmc Genomics, 2014

Ancient homology underlies adaptive mimetic diversity across butterflies.

Gallant JR et al.

Nature Communications, 2014

25198507 (PubMed )
Supplement: ncomms5817-s2.xlsx › Table_S5_-_selected_genes

New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle.

Zhang Y et al.

Animal Genetics, 2014

Agouti signalling protein is an inverse agonist to the wildtype and agonist to the melanic variant of the melanocortin-1 receptor in the grey squirrel (Sciurus carolinensis).

McRobie HR et al.

Febs Letters, 2014

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Hu HH et al.

Biomed Research International, 2014

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

Identification of the e allele at the Extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation.

Hepp D et al.

Genetics and Molecular Research : Gmr, 2012

Nucleotide diversity of the melanocortin 1 receptor gene (MC1R) in the gayal (Bos frontalis).

Xi D et al.

Molecular Biology Reports, 2012

Isolation and characteristics of the melanocortin 1 receptor gene (MC1R) in the Chinese yakow (Bos grunniens×Bos taurus).

Xi D et al.

Gene, 2012

The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Benned-Jensen T et al.

Plos One, 2011

Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.

Fontanesi L et al.

Bmc Genetics, 2009

Pigmentation in Black-boned sheep (Ovis aries): association with polymorphism of the MC1R gene.

Deng WD et al.

Molecular Biology Reports, 2009

Sequence characterization of the MC1R gene in yak (Poephagus grunniens) breeds with different coat colors.

Chen SY et al.

Journal of Biomedicine & Biotechnology, 2009

The loci of evolution: how predictable is genetic evolution?

Stern DL et al.

Evolution; International Journal of Organic Evolution, 2008

18616572 (PubMed )
Supplement: evo0062-2155-sd1.xls › Excluded

Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds.

Dun G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2007

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

The coding sequence of the ASIP gene is identical in nine wild-type coloured cattle breeds.

Royo LJ et al.

Journal of Animal Breeding and Genetics = Zeitschrift Fur Tierzuchtung Und Zuchtungsbiologie, 2005

Molecular genetics and evolution of melanism in the cat family.

Eizirik E et al.

Current Biology : Cb, 2003

A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs.

Kijas JM et al.

Genetics, 2001

Melanocortin 1 receptor variation in the domestic dog.

Newton JM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2000

Presence of the dominant extension allele E(D) in red and mosaic cattle.

Klungland H et al.

Pigment Cell Research, 1999

Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.

Kijas JM et al.

Genetics, 1998

A ligand-mimetic model for constitutive activation of the melanocortin-1 receptor.

Lu D et al.

Molecular Endocrinology (baltimore, Md.), 1998

Homologous pigmentation mutations in human, mouse and other model organisms.

Jackson IJ

Human Molecular Genetics, 1997

A first genotyping assay of French cattle breeds based on a new allele of the extension gene encoding the melanocortin-1 receptor (Mc1r).

Rouzaud F et al.

Genetics, Selection, Evolution : Gse, 0

Independent nonframeshift deletions in the MC1R gene are not associated with melanistic coat coloration in three mustelid lineages.

Hosoda T et al.

The Journal of Heredity, 0

The genetic basis of melanism in the gray squirrel (Sciurus carolinensis).

McRobie H et al.

The Journal of Heredity, 0

MC1R c.310G>- and c.871G > A determine the coat color of Kumamoto sub-breed of Japanese Brown cattle.

Matsumoto H et al.

Animal Science Journal = Nihon Chikusan Gakkaiho, 0

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