Melanocortin 1 receptor (MC1R) gene polymorphisms in three Italian cattle breeds

2011 ◽  
Vol 51 (11) ◽  
pp. 1039 ◽  
Author(s):  
Anna Maria Guastella ◽  
Silvia Sorbolini ◽  
Antonio Zuccaro ◽  
Elia Pintus ◽  
Salvatore Bordonaro ◽  
...  

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.

Animals ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 1878
Author(s):  
Karolina Kasprzak-Filipek ◽  
Wioletta Sawicka-Zugaj ◽  
Zygmunt Litwińczuk ◽  
Witold Chabuz ◽  
Rūta Šveistienė ◽  
...  

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.


2007 ◽  
Vol 6 (3) ◽  
pp. 257-272 ◽  
Author(s):  
Vincenzo Russo ◽  
Luca Fontanesi ◽  
Emilio Scotti ◽  
Marco Tazzoli ◽  
Stefania Dall’Olio ◽  
...  

Genetics ◽  
1999 ◽  
Vol 151 (4) ◽  
pp. 1547-1557 ◽  
Author(s):  
Brinda K Rana ◽  
David Hewett-Emmett ◽  
Li Jin ◽  
Benny H-J Chang ◽  
Naymkhishing Sambuughin ◽  
...  

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.


2015 ◽  
Vol 49 (6) ◽  
pp. 852-857 ◽  
Author(s):  
E. E. Bashmakova ◽  
V. V. Krasitskaya ◽  
A. A. Bondar ◽  
A. V. Kozlova ◽  
T. G. Ruksha ◽  
...  

2019 ◽  
Vol 48 ◽  
Author(s):  
Yi-Chen Tu ◽  
Liang-Yuan Wei ◽  
Yi-Ying Chang ◽  
Hsiu-Chou Liu ◽  
Hsien-Hsiung Lee ◽  
...  

BMC Genetics ◽  
2010 ◽  
Vol 11 (1) ◽  
pp. 59 ◽  
Author(s):  
Luca Fontanesi ◽  
Emilio Scotti ◽  
Michela Colombo ◽  
Francesca Beretti ◽  
Lionel Forestier ◽  
...  

Mljekarstvo ◽  
2020 ◽  
Vol 71 (1) ◽  
pp. 3-12
Author(s):  
Ante Ivanković ◽  

Over the past three decades, the scientific and public interest has been initiated by studies in which the negative effect of milk consumption of beta-casein A1 variant has been observed on consumers’ health. The production of “A2 milk” is one of the ways to economically increase the competitiveness of small and medium-sized dairy farms. Breeders of endangered local breeds are also interested in reaffirmation through production of “A2 milk”. The aim of this study is to determine frequencies of A1 and A2 variants of beta-casein in three commercial and three local breeds of cattle in Croatia, and their relationship with production indicators of commercial breeds in the first three lactations. The genomic DNA was extracted from hair and determination of CSN2 genotypes was conducted by PCR RFLP method. Data for milk yield and chemical composition were provided by the central database. The dominant presence of A2 variant beta-casein in the investigated cattle breeds (0.650-0.758) and the increase in the frequency of A2 beta-casein in the population of Simmental and Istrian cattle were determined. The association of A2A2 and A1A1 genotypes of beta-casein with lactation production and milk fat content in the first and second lactation was observed (p<0.05). The dominance of the A2 allelic variation of beta-casein makes the researched conventional and local breeds suitable for the production of “A2 milk”. The breeding extension of A2 allelic variation of beta-casein within local cattle breeds should be carried out carefully trying not to lose part of the existing genetic variability.


BMC Genetics ◽  
2009 ◽  
Vol 10 (1) ◽  
Author(s):  
Luca Fontanesi ◽  
Francesca Beretti ◽  
Valentina Riggio ◽  
Stefania Dall'Olio ◽  
Elena Gómez González ◽  
...  

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