A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus)

The Melanocortin 1 receptor (MC1R) is one of the main genes implicated in the determination of the coat colour in mammals. This locus showed a relevant genetic variation between breeds that can be exploited for breed traceability of the animal productions. Modicana, Cinisara and Sardo-Modicana are three Italian endangered cattle breeds. Genetic characterisation by molecular markers is a fundamental prerequisite for managing genetic resources and for developing potential genetic traceability protocols. In order to improve the knowledge on Modicana, Cinisara and Sardo-Modicana breeds and to evaluate the possibility to develop DNA-based protocols for their mono-breeds products traceability, the genetic structure of MC1R gene was analysed. Four main alleles were observed in a representative sample of 162 animals. In the black coated Cinisara breed (n = 42), the ED and E+ alleles segregated with a frequency of 0.93 for ED allele. In the red coated Modicana (n = 60) and Sardo-Modicana (n = 60) breeds the E+ and E1 alleles segregated with frequencies of 0.42, 0.57 and 0.52, 0.47, respectively. The recessive allele e showed a low frequency (0.01) in both breeds. Sequencing a subsample of 34 animals the rare E2 allele was found only in Modicana and Sardo-Modicana at a good frequency (0.50). A new PCR-RFLP test, based on BstOI restriction endonuclease, was devised to assay for this allele. Results of the work indicate that red coat in Modicana and Sardo-Modicana cattle is genetically determined by the E+ and E1 alleles instead of the e allele at homozygote status, as occurs in other red European breeds. In these three Italian breeds of local importance, MC1R polymorphisms can be used to discriminate Cinisara from Modicana and Sardo-Modicana, but it was not able to distinguish between the two red coat populations.

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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

Animals ◽

10.3390/ani10101878 ◽

2020 ◽

Vol 10 (10) ◽

pp. 1878

Author(s):

Karolina Kasprzak-Filipek ◽

Wioletta Sawicka-Zugaj ◽

Zygmunt Litwińczuk ◽

Witold Chabuz ◽

Rūta Šveistienė ◽

...

Keyword(s):

Receptor Gene ◽

Restriction Enzymes ◽

Strong Relationship ◽

Coat Colour ◽

Melanocortin 1 Receptor ◽

Mc1r Gene ◽

Central European ◽

Cattle Breeds ◽

Pcr Rflp ◽

European Cattle

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 ED 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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High Polymorphism at the Human Melanocortin 1 Receptor Locus

Genetics ◽

10.1093/genetics/151.4.1547 ◽

1999 ◽

Vol 151 (4) ◽

pp. 1547-1557 ◽

Cited By ~ 4

Author(s):

Brinda K Rana ◽

David Hewett-Emmett ◽

Li Jin ◽

Benny H-J Chang ◽

Naymkhishing Sambuughin ◽

...

Keyword(s):

Protein Sequence ◽

Nucleotide Diversity ◽

Coat Color ◽

Low Frequency ◽

Melanocortin Receptor ◽

Human Populations ◽

Melanocortin 1 Receptor ◽

Mc1r Gene ◽

Southeast Asians ◽

Color Changes

Abstract Variation in human skin/hair pigmentation is due to varied amounts of eumelanin (brown/black melanins) and phaeomelanin (red/yellow melanins) produced by the melanocytes. The melanocortin 1 receptor (MC1R) is a regulator of eu- and phaeomelanin production in the melanocytes, and MC1R mutations causing coat color changes are known in many mammals. We have sequenced the MC1R gene in 121 individuals sampled from world populations with an emphasis on Asian populations. We found variation at five nonsynonymous sites (resulting in the variants Arg67Gln, Asp84Glu, Val92Met, Arg151Cys, and Arg163Gln), but at only one synonymous site (A942G). Interestingly, the human consensus protein sequence is observed in all 25 African individuals studied, but at lower frequencies in the other populations examined, especially in East and Southeast Asians. The Arg163Gln variant is absent in the Africans studied, almost absent in Europeans, and at a low frequency (7%) in Indians, but is at an exceptionally high frequency (70%) in East and Southeast Asians. The MC1R gene in common and pygmy chimpanzees, gorilla, orangutan, and baboon was sequenced to study the evolution of MC1R. The ancestral human MC1R sequence is identical to the human consensus protein sequence, while MC1R varies considerably among higher primates. A comparison of the rates of substitution in genes in the melanocortin receptor family indicates that MC1R has evolved the fastest. In addition, the nucleotide diversity at the MC1R locus is shown to be several times higher than the average nucleotide diversity in human populations, possibly due to diversifying selection.

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Interaction between the melanocortin 1 receptor (MC1R) and agouti signalling protein genes (ASIP), and their association with black and brown coat colour phenotypes in peruvian alpaca

Italian Journal of Animal Science ◽

10.1080/1828051x.2020.1850216 ◽

2020 ◽

Vol 19 (1) ◽

pp. 1508-1512

Author(s):

Stefano Pallotti ◽

Bathrachalam Chandramohan ◽

Dario Pediconi ◽

Cristina Nocelli ◽

Antonietta La Terza ◽

...

Keyword(s):

Coat Colour ◽

Melanocortin 1 Receptor

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A bioluminescent assay for detecting melanocortin-1 receptor (MC1R) gene polymorphisms R160W, R151C, and D294H

Molecular Biology ◽

10.1134/s0026893315050039 ◽

2015 ◽

Vol 49 (6) ◽

pp. 852-857 ◽

Cited By ~ 3

Author(s):

E. E. Bashmakova ◽

V. V. Krasitskaya ◽

A. A. Bondar ◽

A. V. Kozlova ◽

T. G. Ruksha ◽

...

Keyword(s):

Gene Polymorphisms ◽

Melanocortin 1 Receptor ◽

Mc1r Gene ◽

Bioluminescent Assay

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Effects of melanocortin 1 receptor (MC1R) gene polymorphisms on plumage color in mule ducks

Revista Brasileira de Zootecnia ◽

10.1590/rbz4820180180 ◽

2019 ◽

Vol 48 ◽

Author(s):

Yi-Chen Tu ◽

Liang-Yuan Wei ◽

Yi-Ying Chang ◽

Hsiu-Chou Liu ◽

Hsien-Hsiung Lee ◽

...

Keyword(s):

Gene Polymorphisms ◽

Plumage Color ◽

Melanocortin 1 Receptor ◽

Mc1r Gene

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Characterisation of the melanocortin-1 receptor gene in alpaca and identification of possible markers associated with phenotypic variations in colour

Animal Production Science ◽

10.1071/an09005 ◽

2009 ◽

Vol 49 (8) ◽

pp. 675 ◽

Cited By ~ 21

Author(s):

N. L. Feeley ◽

K. A. Munyard

Keyword(s):

Mus Musculus ◽

Bos Taurus ◽

Receptor Gene ◽

Nucleotide Polymorphisms ◽

Wild Type ◽

Single Nucleotide ◽

Melanocortin 1 Receptor ◽

Mc1r Gene ◽

Pcr Products ◽

Phenotypic Variations

The aim of this study was to determine if any correlation exists between melanocortin-1 receptor (MC1R) polymorphisms and skin and fibre colour in alpacas. Primers capable of amplifying the entire alpaca MC1R gene were designed from a comparative alignment of Bos taurus and Mus musculus MC1R gene sequences. The complete MC1R gene of 41 alpacas exhibiting a range of fibre colours, and which were sourced from farms across Australia, was sequenced from PCR products. Twenty-one single nucleotide polymorphisms were identified within MC1R. Two of these polymorphisms (A82G and C901T) have the potential to reduce eumelanin production by disrupting the activity of MC1R. No agreement was observed between fibre colour alone and MC1R genotype in the 41 animals in this study. However, when the animals were assigned to groups based on the presence or absence of eumelanin in their fibre and skin, only animals that had at least one allele with the A82/C901 combination expressed eumelanin. We propose that A82/C901 is the wild-type dominant ‘E’ MC1R allele, while alpacas with either G82/T901 or G82/Y901 are homozygous for the recessive ‘e’ MC1R allele and are therefore unable to produce eumelanin.

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Assessing losses of genetic variability in the endangered Mallorquí horse

Czech Journal of Animal Science ◽

10.17221/1700-cjas ◽

2010 ◽

Vol 55 (No. 10) ◽

pp. 456-462 ◽

Cited By ~ 8

Author(s):

I. Álvarez ◽

L.J. Royo ◽

L. Pérez-Pardal ◽

I. Fernández ◽

L. Payeras ◽

...

Keyword(s):

Genetic Variability ◽

Gene Diversity ◽

Receptor Gene ◽

Reference Population ◽

Coat Colour ◽

Conservation Strategies ◽

Effective Number ◽

Total Contribution ◽

Melanocortin 1 Receptor ◽

Future Viability

Information contained in the studbook of the endangered Mallorquí horse was analysed to assess the genetic variability of the breed. Also, the effect of selection for coat colour variation was assessed using a set of 15 microsatellites genotyped on 68 Mallorquí reproductive individuals previously diagnosed for the presence of the chestnut allele on the melanocortin-1 receptor gene. Mean inbreeding for the whole pedigree (310 individuals) was 2.5% while that for the individuals born during the last three years of recording (reference population) was 4.7%. Only 70% of all the founders have genetic representation in the reference population. A comparison of the parameters such as effective number of founders, effective number of ancestors and founder genome equivalents documented that the losses of founder genes occurred very soon after the implementation of conservation strategies. The parameter F<sub>IS</sub> computed from genealogical information was positive (0.029) for the whole population and negative (–0.024) for the reference population, thus illustrating the effort of the Mallorquí horse breeders to avoid matings between relatives in later generations. A total of 14 individuals were heterozygotes for the chestnut allele (allele frequency of 10.6%). The rejection for reproduction of the chestnut heterozygote individuals would not affect the overall gene diversity of the population. However, the total allelic richness would decrease both at the within-subpopulation (1.2%) and total contribution level (0.4%). The chestnut heterozygote individuals are a within-breed reservoir of rare alleles that should be preserved to avoid risks for the future viability of the breed.

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