• Asian-Australasian Journal of Animal Sciences
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• v.26 no.5
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• pp.625-629
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• 2013

The melanocortin 1 receptor (MC1R) gene is related to the plumage color variations in chicken. Initially, the MC1R gene from 30 individuals was sequenced and nine polymorphisms were obtained. Of these, three and six single nucleotide polymorphisms (SNPs) were confirmed as synonymous and nonsynonymous mutations, respectively. Among these, three selected SNPs were genotyped using the restriction fragment length polymorphism (RFLP) method in 150 individuals from five chicken breeds, which identified the plumage color responding alleles. The neighbor-joining phylogenetic tree using MC1R gene sequences indicated three well-differentiated different plumage pigmentations (eumelanin, pheomelanin and albino). Also, the genotype analyses indicated that the TT, AA and GG genotypes corresponded to the eumelanin, pheomelanin and albino plumage pigmentations at nucleotide positions 69, 376 and 427, respectively. In contrast, high allele frequencies with T, A and G alleles corresponded to black, red/yellow and white plumage color in 69, 376 and 427 nucleotide positions, respectively. Also, amino acids changes at position Asn23Asn, Val126Ile and Thr143Ala were observed in melanin synthesis with identified possible alleles, respectively. In addition, high haplotype frequencies in TGA, CGG and CAA haplotypes were well discriminated based on the plumage pigmentation in chicken breeds. The results obtained in this study can be used for designing proper breeding and conservation strategies for the Korean native chicken breeds, as well as for the developing breed identification markers in chicken.

• Journal of Animal Science and Technology
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• v.49 no.3
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• pp.295-302
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• 2007

Leptin, the product of the obese(ob) gene, is an adipocyte-derived hormone for the regulation of whole- body energy storage and energy usage. It has been reported that the homozygous mutations in the gene for leptin(LEP) induce obesity and reduce energy expenditure. In cattle, LEP has significant roles directly or indirectly related with phenotypes such as body weight and fat deposits, therefore SNPs of LEP have been considered important genetic marker to estimate carcass fat content in cattle. In this study, SNPs were screened in LEP(2,222 bp) between intron 1 to 3'-UTR from 24 independent Hanwoo(Korean cattle) by PCR and DNA sequencing. Total 25 SNPs were found and two nonsynonymous SNPs including T1163A(V19E) and G3256A(G132D) were newly detected only from Hanwoo. Among 20 SNPs previously reported in cattle, 16 SNPs were found in Hanwoo; however, the frequencies of some SNPs were significantly different between Hanwoo and western cattle breeds. The other 4 SNPs were not detected from Hanwoo. These Hanwoo specific SNP patterns in LEP will be used in development of molecular marker and application to genetic improvement of Hanwoo.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.8
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• pp.1073-1079
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• 2008

The objectives of this study were to identify polymorphisms of insulin-like growth factor I (IGF-I) gene and to investigate their association with growth traits in Nanjiang Huang goats. Five hundred and ninety-two animals were used to detect the polymorphisms in the complete coding sequence, part of introns and the 5'-regulatory region of the IGF-I gene by means of PCR-SSCP. A new single nucleotide polymorphism (G to C transversion) was identified at intron 4 of the IGF-I gene in the goats. Two alleles and three genotypes were observed in this group. The frequency of G and C alleles was 54.6 and 45.4%, respectively. The statistical analysis showed that polymorphism of the IGF-I gene had a significant association (p<0.05) with birth weight (BW), body weight at 6 months (W6) and at 12 months (W12), heart girth at 2 months (G2), body length at 6 months (L6), wither height at 6 months (H6) and at 12 months (H12) and heart girth at 12 months (G12). The goats with genotype CC had significantly higher BW, W6, W12, G2, L6, H6, H12 and G12 than those with genotype GC and had significantly higher W12, H6, H12 and G12 than those with genotype GG. Therefore, genotype CC may be the most advantageous for growth traits in the Nanjiang Huang goat. However, no significant association between SNP genotypes and other growth traits was observed. These results indicated that the SNP marker of the IGF-I gene may be a potential molecular marker for growth traits in Nanjiang Huang goats.

• Asian-Australasian Journal of Animal Sciences
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• v.24 no.6
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• pp.744-751
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• 2011

Meat production and quality traits in beef cattle are largely affected by genetic factors. Acetyl-Coenzyme A carboxylase-${\alpha}$ (ACACA) plays a key role in the regulation and metabolism of fatty acid biosynthesis in mammalian animals. The gene encoding ACACA enzyme was chosen as a candidate gene for carcass and meat traits. In this study, we investigated effects of single nucleotide polymorphisms (SNPs) in the ACACA gene on beef carcass and meat traits in Hanwoo (Korean cattle) populations. We have sequenced a fragment of intron I region of the Hanwoo ACACA gene and identified two SNPs. Genotyping of the two SNP markers (g.2344T>C and g.2447C>A) was carried out using PCR-SSCP analysis in 309 Hanwoo steers to evaluate their association with carcass and meat production traits. The g.2344C SNP marker showed a significant increasing effect on LW (p = 0.009) and CW (p = 0.017). Animals with the CC genotype had higher CW and LW compared with TT and TC genotypes (p<0.05). The g.2447A SNP marker was associated with higher MC (p = 0.019). Animals with the AA genotype had higher MC than animals with CC and CA genotypes (p<0.05). Although the degree of linkage disequilibrium (LD) was not strong between g.2344T>C and g.2447C>A in the LD analysis, four major haplotype classes were formed with two SNP information within the ACACA gene. We constructed haplotypes using the HaploView software package program and analyzed association between haplotypes and carcass traits. The haplotype of ACACA gene significantly affected the LW (p = 0.027), CW (p = 0.041) and MC (p = 0.036). The effect of h1 haplotype on LW and CW was larger than that of h3 haplotype. Animals with the h1 haplotype also had greater MC than did animals with h2 haplotype. Consequently, the ACACA gene could be useful as a DNA marker for meat production traits such as carcass yield and meat contents in Hanwoo.

• The Journal of Internal Korean Medicine
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• v.31 no.4
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• pp.752-762
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• 2010

Objective : In the present study, we investigated genetic distribution of eight single nucleotide polymorphisms of PON1 between Dampness and Phlegm and non Dampness and Phlegm pattern identification(PI) among Korean stroke patients. Materials and Methods : One hundred forty stroke subject without Dampness and Phlegm and fifty eight stroke subjects with Dampness and Phlegm were participated in this study. After informed consents, eight single nucleotide polymorphisms(SNPs) in PON1 of each subjects were identified by DNA sequencing and primer extension method and statistical analysis was performed to determine the significant difference between Dampness and Phlegm and non Dampness and Phlegm groups. Results : Among anthropometric characteristics and blood parameters, waist circumference and total cholesterol were significantly higher in Dampness and Phlegm. Among 8 SNPs of PON1, frequency of M allele and subjects with M allele in L55M SNP were significantly higher in Dampness and Phlegm group (p=0.0032 and p=0.0053, respectively) but subjects with T allele in C-2033T SNP were lower in Dampness and Phlegm group(p=0.0302). Effect of L55M and C-2033T on Dampness and Phlegm were 3.07% and 1.75%, respectively. Conclusion : Our results suggest that L55M SNP in exon and C-2033T in promoter region of PON1 maybe affect to Dampness and Phlegm pattern identification. However, further study should be carried out to find out the detailed mechanism how L55M and C-2033T can affect Dampness and Phlegm stroke patients.

• BMB Reports
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• v.44 no.4
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• pp.238-243
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• 2011

We generated 16,993 expressed sequence tags (ESTs) from two libraries containing full-length cDNAs from the brain and liver of the Korean Jindo dog. An additional 365,909 ESTs from other dog breeds were identified from the NCBI dbEST database, and all ESTs were clustered into 28,514 consensus sequences using StackPack. We selected the 7,305 consensus sequences that could be assembled from at least five ESTs and estimated that 12,533 high-quality single nucleotide polymorphisms (SNPs) were present in 97,835 putative SNPs from the 7,305 consensus sequences. We identified 58 Jindo dog-specific SNPs in comparison to other breeds and predicted seven synonymous SNPs and ten non-synonymous SNPs. Using PolyPhen, a program that predicts changes in protein structure and potential effects on protein function caused by amino acid substitutions, three of the non-synonymous SNPs were predicted to result in changes in protein function for proteins expressed by three different genes (TUSC3, ITIH2, and NAT2).

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.2
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• pp.184-194
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• 2016

The peroxisome proliferator-activated receptor gamma ($PPAR{\gamma}$) gene plays an important role in the biosynthesis process controlled by a number of fatty acid transcription factors. This study investigates the relationships between 130 single-nucleotide polymorphisms (SNPs) in the $PPAR{\gamma}$ gene and the fatty acid composition of muscle fat in the commercial population of Korean native cattle. We identified 38 SNPs and verified relationships between 3 SNPs (g.1159-71208 A>G, g.42555-29812 G>A, and g.72362 G>T) and the fatty acid composition of commercial Korean native cattle (n = 513). Cattle with the AA genotype of g.1159-71208 A>G and the GG genotype of g.42555-29812 G>A and g.72362 G>T had higher levels of monounsaturated fatty acids and carcass traits (p<0.05). The results revealed that the 3 identified SNPs in the $PPAR{\gamma}$ gene affected fatty acid composition and carcass traits, suggesting that these 3 SNPs may improve the flavor and quality of beef in commercial Korean native cattle.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.2
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• pp.157-162
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• 2018

Objective: The aim of this study is to identify single nucleotide polymorphisms (SNPs) and genes related to pig IMF and estimate the heritability of intramuscular fat content (IMF). Methods: Genome-wide association study (GWAS) on 704 inbred Berkshires was performed for IMF. To consider the inbreeding among samples, associations of the SNPs with IMF were tested as random effects in a mixed linear model using the genetic relationship matrix by GEMMA. Significant genes were compared with reported pig IMF quantitative trait loci (QTL) regions and functional classification of the identified genes were also performed. Heritability of IMF was estimated by GCTA tool. Results: Total 365 SNPs were found to be significant from a cutoff of p-value <0.01 and the 365 significant SNPs were annotated across 120 genes. Twenty five genes were on pig IMF QTL regions. Bone morphogenetic protein-binding endothelial cell precursor-derived regulator, forkhead box protein O1, ectodysplasin A receptor, ring finger protein 149, cluster of differentiation, tyrosine-protein phosphatase non-receptor type 1, SRY (sex determining region Y)-box 9 (SOX9), MYC proto-oncogene, and macrophage migration inhibitory factor were related to mitogen-activated protein kinase pathway, which regulates the differentiation to adipocytes. These genes and the genes mapped on QTLs could be the candidate genes affecting IMF. Heritability of IMF was estimated as 0.52, which was relatively high, suggesting that a considerable portion of the total variance of IMF is explained by the SNP information. Conclusion: Our results can contribute to breeding pigs with better IMF and therefore, producing pork with better sensory qualities.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1255-1262
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• 2014

Background: The aim of the study was to investigate any associations between benign prostate hyperplasia (BPH) and single nucleotide polymorphisms (SNPs) in the VDR gene (FokI, BsmI, ApaI and Taq${\alpha}$I loci) and the CYP17 gene (MspA1I locus), as well as TA repeat polymorphism in SRD5A2 gene among Lebanese men. Materials and Methods: DNA extracted from blood of 68 subjects with confirmed BPH and 79 age-matched controls was subjected to PCR/PCR-restriction fragment length polymorphism analysis. The odds ra=tio (OR) of having a genotype and the relative risk (RR) of developing BPH for having the genotype were calculated and the alleles were designated risk-bearing or protective. Results: Our data indicated that the A and B alleles of the VDR ApaI and BsmI SNPs were highly associated with increased risk of BPH (p=0.0168 and 0.0002, respectively). Moreover, 63% of the controls compared to 43% of the subjects with BPH were homozygous for none of the risk-bearing alleles (p=0.0123) whereas 60% of the controls and 28% of the subjects with BPH were homozygous for two or more protective alleles (p<0.0001). Conclusions: For the first time, our study demonstrated that ApaI and BsmI of the VDR gene are associated with risk of BPH among Lebanese men. Our study also indicated that overall polymorphism profile of all the genes involved in prostate physiology could be a better predictor of BPH risk.

• Genomics & Informatics
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• v.9 no.3
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• pp.114-120
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• 2011

Chronic inflammation has been implicated as one of the important etiological factors in insulin resistance and type 2 diabetes mellitus (T2DM). To investigate the role of anti-inflammatory cytokines in the development of T2DM, we conducted a case-control study to assess the association between IL4/IL4R polymorphisms and disease risk. We firstly identified single nucleotide poly-morphisms (SNP) at IL4 and IL4RA loci by sequencing the loci in Korean participants. Case-control studies were conducted by genotyping the SNPs in 474 T2DM cases and 470 non-diabetic controls recruited from community-based cohorts. Replication of the associated signals was performed in 1,216 cases and 1,352 controls. We assessed effect of IL4 -IL4RA interaction on T2DM using logistic regression method. The functional relevance of the SNP associated with disease risk was determined using a reporter expression assay. We identified a strong association between the IL4 promoter variant rs2243250 and T2DM risk (OR=0.77; 95% CI, 0.67~0.88; p=$1.65{\times}10^{－4}$ in the meta-analysis). The reporter gene expression assay demonstrated that the presence of rs2243250 might affect the gene expression level with ~1.5-fold allele difference. Our findings contribute to the identification of IL4 as a T2D susceptibility locus, further supporting the role of anti-inflammatory cytokines in T2DM disease development.