• Journal of Animal Science and Technology
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• v.53 no.2
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• pp.107-111
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• 2011

This study was undertaken to reveal the relationship between genetic variations and the basic coat color classification system in Jeju horses. Genetic variations of the melanocortinreceptor 1 (MC1R) and agouti signaling protein (ASIP) genes were investigated using pyrosequencing technique. A nucleotide substitution mutation for MC1R g.901C>T and an ASIP 11-bp deletion mutation were screened. Black horses had MC1R $E^+$/- ($E^+/E^+$ or $E^+/E^e$) and ASIP $A^a/A^a$ genotypes. In contrast, chestnut horse genotypes were MC1R $E^e/E^e$ and ASIP -/-. Thus, black and bay horses have at least one dominant MC1R allele, $E^+$, whereas chestnut horses have homozygous recessive alleles $E^e/E^e$. This suggests that the MC1R genotypes determine chestnut or black/bay coat color, regardless of the genotype distribution of ASIP. In addition, the horses with MC1R $E^+$/- and a dominant ASIP $A^A$/- allele showed bay coat color, but not black, suggesting that the ASIP $A^A$ allele represses black coat color development in the hairs of the body, but not in the mane and all four legs. Pedigree analysis showed a consistent relationship between the genotype distribution of the MC1R and ASIP genes and basic coat color patterns, even in the $F_1$ progeny. The results of this study revealed the relationship between the coat color phenotype and genetic background and suggested that useful information may be provided for molecular breeding of Jeju horses.

• Animal Bioscience
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• v.35 no.10
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• pp.1479-1488
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• 2022

Objective: This work was to determine coat inheritance and evaluate production performance for crossbred pigs from Berkshire×Chenghua (BC) compared with Chinese indigenous Chenghua (CH) pigs. Methods: The coat color phenotypes were recorded for more than 16,000 pigs, and the genotypes of melanocortin 1 receptor (MCIR) gene were identified by sequencing. The reproductive performance of 927 crossbred BC F4 gilts and 320 purebred CH gilts was recorded. Sixty pigs of each breed were randomly selected at approximately 60 days of age to determine growth performance during fattening period, which lasted for 150 days for BC pigs and 240 days for CH pigs. At the end of the fattening period, 30 pigs of each breed were slaughtered to determine carcass composition and meat quality. Results: The coat color of BC pigs exhibits a "dominant black" hereditary pattern, and all piglets derived from boars or sows genotyped E^D1 E^D1 homozygous for MC1R gene showed a uniform black coat phenotype. The BC F4 gilts displayed a good reproductive performance, showing a higher litter and tear size and were heavier at farrowing litter and at weaning litter than the CH gilts, but they reached puberty later than the CH gilts. BC F4 pigs exhibited improved growth and carcass characteristics with a higher average daily live weight gain, lower feed-to-gain ratio, and higher carcass lean meat rate than CH pigs. Like CH pigs, BC F4 pigs produced superior meat-quality characteristics, showing ideal pH and meat-color values, high intramuscular fat content and water-holding capacity, and acceptable muscle-fiber parameters. C18:1, C16:0, C18:0, and C18:2 were the main fatty acids in M. longissimus lumborum in the two breeds, and a remarkably high polyunsaturated/saturated fatty acid ratio of ~0.39 was observed in the BC F4 pigs. Conclusion: The BC F4 pigs exhibit a uniform black coat pattern and acceptable total production performance.

• Korean Journal of Agricultural Science
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• v.38 no.3
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• pp.453-458
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• 2011

The MC1R (Melanocortin 1 receptor) gene has been known as a causative gene of the coat colors in mammals and responsible for the E (Extension) locus which has three alleles ($E^D$, $E^+$, e) that determines coat colors. The dominant allele $E^D$ produces black or brown colors due to the missense mutation and the recessive e allele has frameshift mutation which shows red or yellow coat colors. Whereas the wild type $E^+$ produces variety of colors due to the interaction with A (Agouti) locus. In this study, PCR-RFLP was performed using two restriction enzymes (BsrF I and MspA1 I) in order to obtain MC1R genotypes in Korean brindle cattle and black cattle. The results showed that all of the animals have the $E^+$ alleles, indicating the $E^+$ allele might related with black coat colors. Later on, the experiments expanded to the 260 Korean candidate bulls whether these animals have the same $E^+$ allele. Among 260 samples investigated, 5% (13/260) of the animals had $E^+$e genotypes, indicating the $E^+$ allele is also present in the candidate bulls in a low frequency. Even though we expected that A locus also affect the black coat color in cattle, all the black coat color animals (brindle and black) have $E^+$ alleles in this study. Therefore, the genotyping of the MC1R gene in candidate bulls will recommended be applied for eliminating of black coat colors in Hanwoo population, if the farmers need to have the brown coat colors only.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.9
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• pp.1229-1238
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• 2016

This study was conducted to determine the relationships of five intragenic single nucleotide polymorphism (SNP) markers (protein kinase adenosine monophosphate-activated ${\gamma}3$ subunit [PRKAG3], fatty acid synthase [FASN], calpastatin [CAST], high mobility group AT-hook 1 [HMGA1], and melanocortin-4 receptor [MC4R]) and meat quality traits of Duroc breeding stocks in Korea. A total of 200 purebred Duroc gilts from 8 sires and 40 dams at 4 pig breeding farms from 2010 to 2011 reaching market weight (110 kg) were slaughtered and their carcasses were chilled overnight. Longissimus dorsi muscles were removed from the carcass after 24 h of slaughter and used to determine pork properties including carcass weight, backfat thickness, moisture, intramuscular fat, $pH_{24h}$, shear force, redness, texture, and fatty acid composition. The PRKAG3, FASN, CAST, and MC4R gene SNPs were significantly associated with the meat quality traits (p<0.003). The meats of PRKAG3 (A 0.024/G 0.976) AA genotype had higher pH, redness and texture than those from PRKAG3 GG genotype. Meats of FASN (C 0.301/A 0.699) AA genotype had higher backfat thickness, texture, stearic acid, oleic acid and polyunsaturated fatty acid than FASN CC genotype. While the carcasses of CAST (A 0.373/G 0.627) AA genotype had thicker backfat, and lower shear force, palmitoleic acid and oleic acid content, they had higher stearic acid content than those from the CAST GG genotype. The MC4R (G 0.208/A 0.792) AA genotype were involved in increasing backfat thickness, carcass weight, moisture and saturated fatty acid content, and decreasing unsaturated fatty acid content in Duroc meat. These results indicated that the five SNP markers tested can be a help to select Duroc breed to improve carcass and meat quality properties in crossbred pigs.

• Journal of Animal Science and Technology
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• v.54 no.1
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• pp.1-8
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• 2012

This study aimed to investigate the single nucleotide polymorphisms (SNPs) of the porcine MC4R gene and validate the effect of the MC4R genotype for marker assisted selection (MAS). Six amplicons were produced to analyze the entire base sequences of the porcine MC4R gene and six SNPs were detected (c.-780C>G, c.-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His, c.892A>G-Asp298Asn, and c.*430A>T). Linkage disequilibrium (LD) of the six SNPs was analyzed by performing haploid analysis. There was a perfect linkage disequilibrium in c.-780C>G, c.-135C>T, c.175C>T-Leu59Leu, c.707A>G-Arg236His, and c.*430A>T. Only the c.892A>G (Asp298Asn) SNP showed a very low LD with an $r^2$ value of 0.028 and the D' value of 0.348. As a result, the two SNPs-c.707A>G (Arg236His) and c.892A>G (Asp298Asn)-were selected to extract the genotype frequencies from the 5 pig breeds by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genotype analysis method. The SNP frequency of c.707A>G (Arg236His) indicated the presence of the A (His) allele only in Yorkshire, while the G allele was fixed in the KNP, Landrace, Berkshire, and Duroc. Association analysis was carried out in 484 pigs with the c.707A>G (Arg236His) SNP and the meat quality traits of four different pig cross populations: a significant association was noted in crude fat, sirloin moisture, meat color, and the degree of red and yellow coloration. The frequency of the c.892A>G(Asp298Asn) SNP genotype varied among the breeds; while Duroc showed the highest frequency of the A (Asn) allele, KNP showed the highest frequency of the G (Asp) allele. Association analysis was carried out in 1126 pigs with the c.892A>G (Asp298Asn) SNP and the meat quality traits of four pig populations: a highly significant linkage was noted in the back-fat thickness (P<0.002). It was found that the back-fat thickness was higher in individuals with the AA genotype than in those with the AG or GG genotype. Thus, in this study, we verified that the c.892A>G (Asp298Asn) SNP in the pig MC4R gene has a sufficient effect as a gene marker for MAS in Korean pork industry.

• BMB Reports
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• v.45 no.12
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• pp.724-729
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• 2012

In this study, we evaluated the anti-melanogenesis effects of Caffeoylserotonin (CaS) in B16 melanoma cells. Treatment with CaS reduced the melanin content and tyrosinase (TYR) activity in B16 melanoma cells in a dose-dependent manner. CaS inhibited the expression of melanogenesis-related proteins, including microphthalmia-associated transcription factor (MITF), TYR, and tyrosinase-related protein-1 (TRP-1), but not TRP-2. ${\alpha}$-MSH is known to interact with melanocortin 1 receptor (MC1R) thus activating adenylyl cyclase and increasing intracellular cyclic AMP (cAMP) levels. Furthermore, cAMP activates extracellular signal-regulated kinase 2 (ERK2) via phosphorylation, which phosphorylates MITF, thereby targeting the transcription factor to proteasomes for degradation. The CaS reduced intracellular cAMP levels to unstimulated levels and activated ERK phosphorylation within 30 min. The ERK inhibitor PD98059 abrogated the suppressive effect of CaS on ${\alpha}$-MSH-induced melanogenesis. Based on this study, the inhibitory effects of CaS on melanogenesis are derived from the downregulation of MITF signaling via the inhibition of intracellular cAMP levels, as well as acceleration of ERK activation.

• Journal of Life Science
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• v.19 no.3
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• pp.384-389
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• 2009

This study was carried out to elucidate the relation between expression levels of three melanin synthesis genes (Tyrosinase, Tyrosinase-related protein 1 and Dopachrome tautomerase) according to the Melanocortin-1 receptor genotypes with coat color patterns in Hanwoo cattle, Jeju black cattle and Holsteins. Using real-time semiquantitative reverse transcription-PCR assay (RT-PCR), the expression levels of these three genes were analyzed in skin tissues from four representative coat colored areas: yellowish-brown from MC1R e/e Hanwoo, wild type black from $E^+/E^+$ Jeju black cattle (JBC), and dominant black and white pied regions from $E^D/E^D$ Holstein. The TYR, TYRP1 and DCT genes showed higher expression levels of 4.5, 2.3 and 2.5 times higher in the black skin area of Holsteins than those of from JBC, respectively (p<0.001). In addition, the expression levels of these three genes from JBC were significantly higher than those from Hanwoo cattle (p<0.001). These results show that coat color phenotypes in Hanwoo cattle, JBC and Holsteins is directly correlated with TRY, TYRP1 and DCT transcription levels, which probably reflected involvement with MC1R genotypes; e/e in Hanwoo, $E^+/E^+$ in JBC and $E^D/E^D$ in Holsteins. Consequently, this study suggested that the status of MC1R protein may not only induce the transcription activities of a series of TYR and its related genes responsible for melanin synthesis, but also determine the levels of total melanin contents in bovine skin.

• Journal of Animal Science and Technology
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• v.54 no.4
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• pp.255-265
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• 2012

The objectives of this study were to investigate MC1R genotype, coat color, and muzzle phenotype variationsin the Korean native brindle cattle (KNBC) maintaining family lines and to establish the mating system for increased brindle coat color appearance. KNBC with genotype and phenotype records were selected as experimental animals. The relationship between melanocortin 1 receptor (MC1R) genotypes, verified by PCR-RFLP, and brindle coat color appearance was determined. Fragments of the MC1R gene amplified by PCR were digested with MspI and RFLP was determined. KNBC had $E^+E^+$, $E^+e$, and ee genotypes. The $E^+e$ genotype was most common with 65%, compared to $E^+E^+$ (33.33%), or ee (1.67%). When the sire had $E^+e$ genotype and the dam had $E^+E^+$ genotype, and both of them had the whole body-brindle coat color, all of their offspring (4/4) had whole body-brindle coat color. When the sire had $E^+E^+$ genotype and the dam had $E^+e$ genotype, and both had whole body-brindle coat color, 44.44% (4/9) of the offspring had whole body-brindle coat color. The mating between the sires and dams with these two genotypes with whole body-brindle coat color may have the highest whole body-brindle coat color appearance in their offspring. Muzzle grades 3 or 4 were more common than other muzzle grades. This is the first report indicating the segregation of MC1R genotypes and the inheritance of coat color through family lines in KNBC. The mating system proposed from this study may increase the possibility of brindle coat color appearance in KNBC.

• Genomics & Informatics
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• v.9 no.2
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• pp.59-63
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• 2011

Obesity provokes many serious human diseases, including various cardiovascular diseases and diabetes. Body mass index (BMI) is a highly heritable trait that is broadly used to diagnose obesity. To identify genetic loci associated with obesity in Asians, we conducted a genome-wide association study (GWAS) of a population of Korean adults (n=6,742, age 40~60 years) and detected six BMI risk loci (TNR, FAM124B, RGS12, NFE2L3, MC4R and FTO) having p< $1{\times}10^{-5}$. However, in the replication study, only melanocortin 4 receptor gene (MC4R) (rs9946888, p=$4.58{\times}10^{-7}$) was replicated with marginal significance (p<0.05) in the second cohort (n=5,102, age 40~60 years). This study indicates that each locus associated with BMI has very weak genetic effect.

• Journal of Ginseng Research
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• v.47 no.6
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• pp.714-725
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• 2023

Background: Our previous investigation indicated that the preparation of Panax ginseng Meyer (P. ginseng) inhibited melanogenesis. It comprised salicylic acid (SA), protocatechuic acid (PA), p-coumaric acid (p-CA), vanillic acid (VA), and caffeic acid (CA). In this investigation, the regulatory effects of P. ginseng phenolic acid monomers on melanin production were assessed. Methods: In vitro and in vivo impact of phenolic acid monomers were assessed. Results: SA, PA, p-CA and VA inhibited tyrosinase (TYR) to reduce melanin production, whereas CA had the opposite effects. SA, PA, p-CA and VA significantly downregulated the melanocortin 1 receptor (MC1R), cycle AMP (cAMP), protein kinase A (PKA), cycle AMP-response element-binding protein (CREB), microphthalmia-associated transcription factor (MITF) pathway, reducing mRNA and protein levels of TYR, tyrosinase-related protein 1 (TYRP1), and TYRP2. Moreover, CA treatment enhanced the cAMP, PKA, and CREB pathways to promote MITF mRNA level and phosphorylation. It also alleviated MITF protein level in α-MSH-stimulated B16F10 cells, comparable to untreated B16F10, increasing the expression of phosphorylation glycogen synthase kinase 3β (p-GSK3β), β-catenin, p-ERK/ERK, and p-p38/p38. Furthermore, the GSK3β inhibitor promoted p-GSK3β and p-MITF expression, as observed in CA-treated cells. Moreover, p38 and ERK inhibitors inhibited CA-stimulated p-p38/p38, p-ERK/ERK, and p-MITF increase, which had negative binding energies with MC1R, as depicted by molecular docking. Conclusion: P. ginseng roots' phenolic acid monomers can safely inhibit melanin production by bidirectionally regulating melanin synthase transcription. Furthermore, they reduced MITF expression via MC1R/cAMP/PKA signaling pathway and enhanced MITF post-translational modification via Wnt/mitogen-activated protein kinase signaling pathway.