• Journal of Animal Science and Technology
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• v.52 no.1
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• pp.9-16
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• 2010

A previous study has shown that the g.17924G>A polymorphism of fatty acid synthase (FASN) is associated with unsaturated fatty acid composition in the Hanwoo beef, hence this study was conducted to evaluate the effect of single nucleotide polymorphisms (SNPs) within FASN gene on the selection phenotypes of Hanwoo breeding stock. A total of 925 progeny test steers were used to genotype g.11280G>A, g.13125T>C, and g.17924G>A polymorphisms and significant associations were found among g.11280G>A, g.17924G>A, and carcass traits, such as carcass weight, backfat thickness, and beef quantity index. No significant association was found between g.13125T>C and carcass traits. Although the degree of linkage disequilibrium (LD) was not strong among g.11280G>A, g.13125T>C, and g.17924G>A in the LD analysis, four major haplotype classes were formed with the genotypic information within the FASN gene; the frequencies of the halpotypeswere -GCG-[0.378], -ATG-[0.301], -GTA-[0.191], and -ACG-[0.063], respectively. Phenotypic association was performed among these haploptypes, and the haplotype 2 (-ATG-)was significantly associated with higher carcass weight when compared to the other haplotypes, i.e. haplotype 1 (-GCG-) and haplotype 3 (-GTA-). A copy number of the FASN haplotype 3 (-GTA-) had also a significant association with carcass weight of subjects. In conclusion, it was observed that two polymorphisms (g.11280G>A and g.17924G>A) and their haplotypes within the FASN gene are consistently associated with carcass traits. Therefore, it is desirable to use the FASN polymorphisms for pre-selection program as genetic marker with improved carcass yield and beef quality of the Hanwoo sire at the Hanwoo Improvement Center as well as for commercial Hanwoo producers, the FASN genotypic information can be used for a part of selecting Hanwoo dam for superior calf production.

• Journal of Animal Science and Technology
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• v.50 no.6
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• pp.753-762
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• 2008

The primers for RT-PCR and RACE-PCR were designed by aligning the pig genomic sequence and the human complement factor B(CFB) coding sequence(CDS) from the GenBank. Each PCR product was amplified in pig cDNA and sequencing was carried out. The CDS length of pig CFB gene was determined to be 2298 bp. In addition, the pig CDS was more longer than human and mouse orthologs because of insertion and deletion. The identities of porcine nucleotide sequences with those of human and mice were 84% and 80%, and the identities of amino acids were 79% to 77%, respectively. Three complement control protein(CCP) domains, one Von Willebrand factor A(VWFA) domain and a serine protease domain, that are revealed typically in mammals, were found in the pig CFB gene. Based on the CDSs determined, the primers were designed in intron regions for amplification of entire length of exons. In amplification and direct sequencing with genomic DNAs of six pig breeds, three cSNPs(coding single nucleotide polymorphisms) were identified and verified as missense mutations. Using the Multiplex-ARMS method, we genotyped and verified the mutations identified from direct sequencing. To demonstrate recrudescence, we performed both direct sequencing and Multiplex-ARMS with two randomly selected DNA samples. The genotype of each sample exhibited the same results using both methods. Therefore, three cSNPs were identified from pig CFB gene and that can be used for haplotype analysis of the swine leukocyte antigen(SLA) class III region. Moreover, the results indicate that the Multiplex-ARMS method should be powerful for genotyping of genes in the SLA region.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.105-110
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• 2008

Purpose: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for preeclampsia, and ICAM-1 plasma levels and/or function is genetically influenced. Therefore, we evaluated the distribution of ICAM-1 gene K469E polymorphism in pregnant Korean women with preeclampsia and evaluated the association between this polymorphism and preeclampsia. Methods: The K469E polymorphism was analyzed in peripheral blood samples from 197 preeclamptic pregnancies and 193 normotensive pregnancies by a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypic and allelic frequencies of ICAM-1 gene polymorphism (K469E) did not differ between preeclamptic and normotensive pregnancies. The distributions of the KK, KE, and EE genotypes were 40.6%, 43.7%, and 15.7%, respectively, in preeclamptic pregnancies and 38.9%, 45.1%, and 16.1%, respectively, in normotensive pregnancies. The frequencies of K and E alleles were 0.62 and 0.38, respectively, in preeclamptic pregnancies and 0.61 and 0.39, respectively, in normotensive pregnancies. By multiple logistic regression analysis, there was no increased risk of preeclampsia in subjects with ICAM-1 KE (OR, 1.08; P=0.74) or EE (OR, 1.07; P=0.88) genotypes. Conclusion: This study suggests that the ICAM-1 gene K469E polymorphism does not associate with an increased risk of preeclampsia in pregnant Korean women.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.7
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• pp.2951-2957
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• 2014

Background: Gastric carcinogenesis is a complicated process that involves environmental and genetic factors like interleukin-4 (IL-4) and IL-8. Single nucleotide polymorphisms in their genes are associated with changed levels of gene expression. Here, we investigated the association between IL4-590 C>T and IL8-251T>A and gastric cancer (GC) risk in Sichuan of Southwestern China. Materials and Methods: We surveyed the research subjects using a self-designed questionnaire with questions on demographic factors and putative risk factors. Approximately 2-5ml of whole blood was collected after field survey to analyze IL4-590 C>T and IL8-251T>A genotypes using MALDI-TOF MS. Results: Our study recruited 308 pairs of GC patients and controls, including 224 (72.7%) men and 84 (27.3%) women in each group. There were 99 cardia and 176 noncardia GC patients in the case group. The case and control groups had an average age of $57.7{\pm}10.6$ ($mean{\pm}SD$) and $57.6{\pm}11.1$ years. GC patients reported a significantly greater proportion of family history of cancer (29.9% vs 10.7%, p<0.01) and drinking (54.6% vs 43.2%, p<0.01) than did controls. Variant genotypes of IL-4-590 C>T and IL-8-251 T>A were not associated with overall GC risk (adjusted OR, 0.89; 95%CI, 0.61-1.28 for CT or CC vs TT; adjusted OR, 1.14; 95%CI, 0.86-1.79 for TA or AA vs TT). Stratification analysis of two SNPs for risk by subsites only found that variant IL-8-251 TA or AA genotype was associated with increased noncardia GC risk (adjusted OR, 2.58; 95%CI, 1.19-5.57). We did not observe interactions between the IL-8-251 T>A genotype and smoking (adjusted OR, 0.38; 95%CI, 0.08-1.79) or drinking (adjusted OR, 0.36; 95%CI, 0.08-1.65) for risk of noncardia GC. Conclusions: Our data indicate no association between the two SNPs of IL-4-590 and IL-8-251 with overall GC risk, while the IL-8-251 TA or AA genotype conferred risk of cardia GC. Our findings contribute to the evidence body for risk of SNPs associated with the development of gastric cancer in this region.

• Food Science of Animal Resources
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• v.24 no.4
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• pp.349-354
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• 2004

Stress-susceptible pigs have been known as the porcine stress syndrome (PSS), swine PSS, also known as malignant hyperthermia (MH), is characterized as sudden death and production of poor meat quality such as PSE (pale, soft and exudative) meat after slaughtering. PSS and PSE meat cause major economic losses in the pig industry. A point mutation in the gene coding for the ryanodine receptor (RYR1) in porcine skeletal muscle, also known calcium (Ca$^{2+}$) release channel, has been associated with swine PSS and halothane sensitivity. We used the PCR-RFLP(restriction fragment length polymorphism) and PCR-SSCP (single strand conformation polymorphism) methods to detect the PSS gene mutation (C1843T) in the RYR1 gene and to estimate genotype frequencies of PSS gene in Korean pig breed populations. In PCR-RFLP and SSCP analyses, three genotypes of homozygous normal (N/M), heterozygous carrier (N/n) and homozygous recessive mutant (n/n) were detected using agarose or polyacrylamide gel electrophoresis, respectively. The proportions of normal, carrier and PSS pigs were 57.1, 35.7 and 7.1％ for Landrace, 82.5, 15.8 and 1.7％ far L. Yorkshire, 95.2, 4.8 and 0.0％ for Duroc and 72.0, 22.7 and 5.3％ for Crossbreed. Consequently, DNA-based diagnosis for the identification of stress-susceptible pigs of PSS and pigs producing PSE meat is a powerful technique. Especially, PCR-SSCP method may be useful as a rapid, sensitive and inexpensive test for the large-scale screening of PSS genotypes and pigs with PSE meat in the pork industry.y.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.68 no.3
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• pp.134-146
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• 2023

Phytophthora root rot (PRR) is a major soybean disease caused by an oomycete, Phytophthora sojae. PRR can be severe in poorly drained fields or wet soils. The disease management primarily relies on resistance genes called Rps (resistance to P. sojae). This study aimed to identify resistance loci associated with resistance to P. sojae isolate 40468 in Daepung × CheonAl recombinant inbred line (RIL) population. CheonAl is resistant to the isolate, while Daepung is generally susceptible. We genotyped the parents and RIL population via high-throughput single nucleotide polymorphism genotyping and constructed a set of genetic maps. The presence or absence of resistance to P. sojae was evaluated via hypocotyl inoculation technique, and phenotypic distribution fit to a ratio of 1:1 (R:S) (χ² = 0.57, p = 0.75), indicating single gene mediated inheritance. Single-marker association and the linkage analysis identified a highly significant genomic region of 55.9~56.4 megabase pairs on chromosome 18 that explained ~98% of phenotypic variance. Many previous studies have reported several Rps genes in this region, and also it contains nine genes that are annotated to code leucine-rich repeat or serine/threonine kinase within the approximate 500 kilobase pairs interval based on the reference genome database. CheonAl is the first domestic soybean genotype characterized for resistance against P. sojae isolate 40468. Therefore, CheonAl could be a valuable genetic source for breeding resistance to P. sojae.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.3
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• pp.327-334
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• 2018

Objective: The objective of the present study was to validate genes and genomic regions associated with carcass weight using a low-density single nucleotide polymorphism (SNP) Chip in Hanwoo cattle breed. Methods: Commercial Hanwoo steers (n = 220) were genotyped with 20K GeneSeek genomic profiler BeadChip. After applying the quality control of criteria of a call rate ${\geq}90%$ and minor allele frequency (MAF) ${\geq}0.01$, a total of 15,235 autosomal SNPs were left for genome-wide association (GWA) analysis. The GWA tests were performed using single-locus mixed linear model. Age at slaughter was fitted as fixed effect and sire included as a covariate. The level of genome-wide significance was set at $3.28{\times}10^{-6}$ (0.05/15,235), corresponding to Bonferroni correction for 15,235 multiple independent tests. Results: By employing EMMAX approach which is based on a mixed linear model and accounts for population stratification and relatedness, we identified 17 and 16 loci significantly (p<0.001) associated with carcass weight for the additive and dominant models, respectively. The second most significant (p = 0.000049) SNP (ARS-BFGL-NGS-28234) on bovine chromosome 4 (BTA4) at 21 Mb had an allele substitution effect of 43.45 kg. Some of the identified regions on BTA2, 6, 14, 22, and 24 were previously reported to be associated with quantitative trait loci for carcass weight in several beef cattle breeds. Conclusion: This is the first genome-wide association study using SNP chips on commercial Hanwoo steers, and some of the loci newly identified in this study may help to better DNA markers that determine increased beef production in commercial Hanwoo cattle. Further studies using a larger sample size will allow confirmation of the candidates identified in this study.

• Journal of Life Science
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• v.24 no.2
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• pp.181-185
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• 2014

We identified SNPs (single nucleotide polymorphisms) for endothelial nitric oxide synthase (eNOS) genes in the Korean genome. eNOS is present in the vascular endothelium, platelets, and several other cell types that continuously produce modest amounts of NO. Endothelium-derived NO plays a key role in the regulation of vascular tone, and the impaired effects of NO on the cardiovascular system appear to be responsible for coronary atherosclerosis and thrombosis. In recent studies, a missense variant within exon 7 of the eNOS gene in patients with coronary spastic angina-GAG to GAT substitution, which results in the replacement of glutamic acid by aspartic acid (Glu298Asp [G894T])-has been identified and is known to be significantly associated with coronary spasm. We prepared PCR primers based on sequences in Genbank. Primers were prepared for normal and SNPs separately, as reported for other Asian countries, such as G894T. Their sequences were different only at the 3' ends so that primer extension could only by possible when base pairs between templates and primers matched. We also employed ARMS (Amplification Refractory Mutation System) technology to improve the specificity of the PCR reaction. In conclusion, we were able to demonstrate the eNOS G894A polymorphism in Korean gemone. This study should facilitate research on the cause of myocardial infarction and development on further therapy at the genetic level.

• Journal of Ginseng Research
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• v.42 no.1
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• pp.116-121
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• 2018

Background: Black ginseng (BG) has greatly enhanced pharmacological activities relative to white or red ginseng. However, the effect and molecular mechanism of BG on muscle growth has not yet been examined. In this study, we investigated whether BG could regulate myoblast differentiation and myotube hypertrophy. Methods: BG-treated C2C12 myoblasts were differentiated, followed by immunoblotting for myogenic regulators, immunostaining for a muscle marker, myosin heavy chain or immunoprecipitation analysis for myogenic transcription factors. Results: BG treatment of C2C12 cells resulted in the activation of Akt, thereby enhancing hetero-dimerization of MyoD and E proteins, which in turn promoted muscle-specific gene expression and myoblast differentiation. BG-treated myoblasts formed larger multinucleated myotubes with increased diameter and thickness, accompanied by enhanced Akt/mTOR/p70S6K activation. Furthermore, the BG treatment of human rhabdomyosarcoma cells restored myogenic differentiation. Conclusion: BG enhances myoblast differentiation and myotube hypertrophy by activating Akt/mTOR/p70S6k axis. Thus, our study demonstrates that BG has promising potential to treat or prevent muscle loss related to aging or other pathological conditions, such as diabetes.

• Journal of Plant Biotechnology
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• v.34 no.2
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• pp.139-144
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• 2007

Hypocotyl explants of Chinese cabbage (cvs. "Jeong Sang") produced transgenic calli on callus induction medium (MS salt, B5 vitamin, 5 mg/L acetosyringone, 1 mg/L 2,4-D, 3% sucrose, 400 mg/L cefotaxime, 100 mg/L paromomycin, pH 5.8) after cocultivation with strains of Agrobacterium tumefaciens (EHA101, LBA4404, GV3101) harboring the pPTN290 containing paromomycin-resistance gene as a selectable marker, and then they transferred to root induction medium (1/2MS salt, MS vitamins, 2% sucrose, 100 mg/L paromomycin, 100 mg/L cefotaxime, pH 5.8) and shoot induction medium (MS salt, B5 vitamin, 4 mg/L $AgNO_3$, 4 mg/L 6-benzyladenine, 3 mg/L alpha-naphthaleneacetic acid, 100 mg/L paromomycin, 100 mg/L cefotaxime, 3% sucrose, pH 5.8) in order. There was a significant difference in the frequency of transgenic calli depending on Agrobacterium strains. In particular, the highest frequency (6.1%) of transgenic calli was obtained from the hypocotyls cocultivated with EHA101 strains. Also, the frequency (%) of transgenic root and plants from each transgenic callus clone were obtained with 60.7% and 38.2% in EHA101, with 8.3% and 0% in LBA4404, with 20.5% and 85.7% in GV3101 strains, respectively. They were grown to maturity in a greenhouse and normally produced $T_2$ seeds. GUS histochemical assay for progeny ($T_2$) revealed that the transgenes was expressed in the plant genome, and progeny analysis from 7 independent transgenic events demonstrated that the transformants transmitted the transgene as a single or multiple functional locus.