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      Polymorphism of the Melanocortin 1 Receptor ( MC1R) Gene and its Role in Determining the Coat Colour of Central European Cattle Breeds

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          Abstract

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          Animal coat colour has been the subject of numerous studies for many years. While most phenotypic features of animals result from the interaction of genetic and environmental factors, coat colour is considered to be almost exclusively genetically determined. Differences in coat colour underscore the distinct character of a given breed or group of animals, testify to its uniqueness, and sometimes serve as selection criteria. Observations of changes in cattle coat colour are an important source of information used to track domestication processes and discover how animals were selected for breeding. One of the genes responsible for variation in coat colour is the melanocortin receptor ( MC1R) gene locus, which controls the production of black and red pigments that determine basic colours. Other interacting genes also influence cattle phenotypes. In view of the complexity of the genetic factors influencing cattle coat colour, this study investigated the genetic basis of different coat colours of Central European cattle breeds.

          Abstract

          There are many genes responsible for the appearance of different coat colours, among which the melanocortin 1 receptor gene ( MC1R) plays an important role. The aim of the study was to characterize genetic variation in Central European cattle breeds based on polymorphism of the MC1R gene and factors determining their coat colour. The study was conducted on 290 individuals of the following breeds: Polish White-Backed (PW), Lithuanian White-Backed (LW), Polish Red (PR), Lithuanian Red (LR), Carpathian Brown (CB), Ukrainian Grey (UG), and Slovak Pinzgau (SP). Polymorphism at the MC1R gene locus was analysed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using two restriction enzymes: Cfr10I and SsiI. The proportions of alleles and genotypes in the MC1R locus indicates a strong relationship between polymorphism and the coat colour of cattle: The E D allele proved to be characteristic for the breeds with a white-backed coat (PW and LW), while the dominant allele in the red breeds (PR and LR) was E +. It is noteworthy that coat colour in the SP population was determined only by the recessive e allele, which resulted in the formation of a separate clade in the phylogenetic tree.

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          Genetic Distance between Populations

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            Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.

            Melanin pigmentation protects the skin from the damaging effects of ultraviolet radiation (UVR). There are two types of melanin, the red phaeomelanin and the black eumelanin, both of which are present in human skin. Eumelanin is photoprotective whereas phaeomelanin, because of its potential to generate free radicals in response to UVR, may contribute to UV-induced skin damage. Individuals with red hair have a predominance of phaeomelain in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from UVR. In mammals the relative proportions of phaeomelanin and eumelanin are regulated by melanocyte stimulating hormone (MSH), which acts via its receptor (MC1R), on melanocytes, to increase the synthesis of eumelanin and the product of the agouti locus which antagonises this action. In mice, mutations at either the MC1R gene or agouti affect the pattern of melanogenesis resulting in changes in coat colour. We now report the presence of MC1R gene sequence variants in humans. These were found in over 80% of individuals with red hair and/or fair skin that tans poorly but in fewer than 20% of individuals with brown or black hair and in less than 4% of those who showed a good tanning response. Our findings suggest that in humans, as in other mammals, the MC1R is a control point in the regulation of pigmentation phenotype and, more importantly, that variations in this protein are associated with a poor tanning response.
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              The cloning of a family of genes that encode the melanocortin receptors.

              Melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH) regulate pigmentation and adrenal cortical function, respectively. These peptides also have a variety of biological activities in other areas, including the brain, the pituitary, and the immune system. A complete understanding of the biological activities of these hormones requires the isolation and characterization of their corresponding receptors. The murine and human MSH receptors (MSH-Rs) and a human ACTH receptor (ACTH-R) were cloned. These receptors define a subfamily of receptors coupled to guanine nucleotide-binding proteins that may include the cannabinoid receptor.
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                Author and article information

                Journal
                Animals (Basel)
                Animals (Basel)
                animals
                Animals : an Open Access Journal from MDPI
                MDPI
                2076-2615
                14 October 2020
                October 2020
                : 10
                : 10
                : 1878
                Affiliations
                [1 ]Sub-Department of Cattle Breeding and Genetic Resources Conservation, Institute of Animal Breeding and Biodiversity Conservation, University of Life Sciences in Lublin, Akademicka 13, 20-950 Lublin, Poland; karolina.kasprzak-filipek@ 123456up.lublin.pl (K.K.-F.); zygmunt.litwinczuk@ 123456up.lublin.pl (Z.L.); witold.chabuz@ 123456up.lublin.pl (W.C.)
                [2 ]Animal Science Institute, Lithuanian University of Health Sciences, A. Mickeviciaus 9, LT 44307 Kaunas, Lithuania; ruta.sveistiene@ 123456lsmuni.lt
                [3 ]Department of Animal Physiology, Slovak University of Agriculture in Nitra, A. Hlinku 2, 94976 Nitra, Nitriansky Kraj, Slovakia; bulla@ 123456uniag.sk
                Author notes
                [* ]Correspondence: wioletta.sawicka@ 123456up.lublin.pl ; Tel.: +48-81-445-60-92
                Author information
                https://orcid.org/0000-0001-6083-1007
                Article
                animals-10-01878
                10.3390/ani10101878
                7602488
                33066670
                3f12af02-009e-4872-acd9-8465fe0db41a
                © 2020 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 17 September 2020
                : 12 October 2020
                Categories
                Article

                mc1r,coat colour determination,central european cattle breeds

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