Morphometric Traits and Melanocortin 1 Receptor (MC1R) Gene Polymorphism of Indonesian Muscovy Ducks of Different Plumage Color Population

In our study PCR-temporal temperature gelelectrophoresis (TTGE) and MeltINGENY bioinformatic program were used to analyse the mutations in the genes of melanocortin-1 receptor (MC1R) and pituitary adenylate-cyclase activating polypeptide (PACAP) in cattle. Amplification of target DNA by PCR was performed with GC-clamp primers and non-GC-clamp primers in simplex PCR reactions. The fragments were separated by denaturing polyacrylamide gelelectrophoresis (denaturing agents: high temperature, urea) after PCR reactions.MC1R homozygous individuals were used for the reaction. We concluded that MeltINGENY program makes the decision and detection system easier, and more simple as the melting profile of target sequence is determined by the software. In case of MC1R gene, PCR-TTGE method is appropriate for SNP detection, however PACAP gene polymorphism can not be identified by the method, because PACAP mutations are not included in melting domains, therefore PCR-TTGE cannot detect them.

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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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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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The “Extended Brown” Plumage Color Mutant of Blue-Breasted Quail (Coturnix chinensis) is Associated with a Mutation in the Melanocortin 1-Receptor Gene (MC1R)

The Journal of Poultry Science ◽

10.2141/jpsa.0180006 ◽

2018 ◽

Vol 55 (4) ◽

pp. 233-238 ◽

Cited By ~ 4

Author(s):

Miho Kageyama ◽

Atsushi Takenouchi ◽

Keiji Kinoshita ◽

Yoshiaki Nakamura ◽

Masaoki Tsudzuki

Keyword(s):

Receptor Gene ◽

Plumage Color ◽

Melanocortin 1 Receptor ◽

Color Mutant

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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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