• Title/Summary/Keyword: Marker nucleotide

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Analyses of single nucleotide polymorphisms and haplotypes of BoLA-DRB3 gene in Holstein and Hanwoo (홀스타인종과 한우에 있어서 BoLA-DRB3 유전자의 단일염기다형과 반수체 분석)

  • Jeong, Hang-Jin;Yu, Seong-Lan;Hoque, M.R.;Lee, Jun-Heon;Do, Chang-Hee;Ryoo, Seung-Heui;Sang, Byung-Chan
    • Korean Journal of Agricultural Science
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    • v.38 no.1
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    • pp.51-63
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    • 2011
  • BoLA (bovine leukocyte antigens) have been known as gene complex related with bovine diseases and immunological traits. This study was conducted to find out the characteristics of BoLA-DRB3 gene related to mastitis and BL(bovine leukocyte) from 280 cattle [193 animals of Holstein cattle and 87 animals of Hanwoo]. As a result, five PCR-RFLP types (b, d, e, f and g) using HaeIII restriction enzyme, three BstYI restriction patterns (b, d and e) and eight RsaI restriction types(b, d, f, I, j, n, o and w) were identified. Moreover, we identified new d' type ($197{\rightarrow}175$/22), having one more cutting site by BstYI enzyme than d type allele and n' type ($180{\rightarrow}169$/11) having one more cutting site by RsaI enzyme than n allele was additionally identified. Next, we identified 53 SNPs in BoLA-DRB3 exon2 from 280 cattle. SNP frequency and heterozygosity of Holstein and Hanwoo were investigated in all the SNP genotype. These results might be based on research for identifying marker associated with bovine diseases.

Polymorphism, Expression of Natural Resistance-associated Macrophage Protein 1 Encoding Gene (NRAMP1) and Its Association with Immune Traits in Pigs

  • Ding, Xiaoling;Zhang, Xiaodong;Yang, Yong;Ding, Yueyun;Xue, Weiwei;Meng, Yun;Zhu, Weihua;Yin, Zongjun
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.8
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    • pp.1189-1195
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    • 2014
  • Natural resistance-associated macrophage protein 1 encoding gene (NRAMP1) plays an important role in immune response against intracellular pathogens. To evaluate the effects of NRAMP1 gene on immune capacity in pigs, tissue expression of NRAMP1 mRNA was observed by real time quantitative polymerase chain reaction (PCR), and the results revealed NRAMP1 expressed widely in nine tissues. One single nucleotide polymorphism (SNP) (ENSSSCG00000025058: g.130 C>T) in exon1 and one SNP (ENSSSCG00000025058: g.657 A>G) in intron1 region of porcine NRAMP1 gene were demonstrated by DNA sequencing and PCR-RFLP analysis. A further analysis of SNP genotypes associated with immune traits including contain of white blood cell (WBC), granulocyte, lymphocyte, monocyte (MO), rate of cytotoxin in monocyte (MC) and $CD4^-CD8^+$ T lymphocyte subpopulations in blood was carried out in four pig populations including Large White and three Chinese indigenous breeds (Wannan Black, Huai pig and Wei pig). The results showed that the SNP (ENSSSCG00000025058: g.130 C>T) was significantly associated with level of WBC % (p = 0.031), MO% (p = 0.024), MC% (p = 0.013) and $CD4^-CD8^+$ T lymphocyte (p = 0.023). The other SNP (ENSSSCG00000025058: g.657 A>G) was significantly associated with the level of MO% (p = 0.012), MC% (p = 0.019) and $CD4^-CD8^+$ T lymphocyte (p = 0.037). These results indicate that the NRAMP1 gene can be regarded as a molecular marker for genetic selection of disease susceptibility in pig breeding.

Identification of New Microsatellite DNAs in the Chromosomal DNA of the Korean Cattle (Hanwoo)

  • Kim, J.W.;Hong, J.M.;Lee, Y.S.;Chae, S.H.;Choi, C.B.;Choi, I.H.;Yeo, J.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.10
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    • pp.1329-1333
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    • 2004
  • To isolate the microsatellites from the chromosomal DNA of the Korean cattle (Hanwoo) and to use those for the genetic selection, four bacteriophage genomic libraries containing the chromosomal DNA of six Hanwoo steers showing the differences in meat quality and quantity were used. Screening of the genomic libraries using $^{32}P-radiolabeled 5'-({CA})_{12}-3$nucleotide as a probe, resulted in isolation of about 3,000 positive candidate bacteriophage clones that contain $(CA)_n$-type dinucleotide microsatellites. After confirming the presence of microsatellite in each positive candidate clone by Southern blot analysis, the DNA fragments that include microsatellite and flanking sequences possessing less than 2 kb in size, were subcloned into plasmid vector. Results from the analysis of microsatellite length polymorphism, using twenty-two PCR primers designed from flanking region of each microsatellite DNA, demonstrated that 208 and 210 alleles of HW-YU-MS#3 were closely related to the economic traits such as marbling score, daily gain, backfat thickness and M. longissimus dorsi area in Hanwoo. Interestingly, HW-YU-MS#3 microsatellite was localized in bovine chromosome 17 on which QTLs related to regulation of the body fat content and muscle ypertrophy locus are previously known to exist. Taken together, the results from the present study suggest the possible use of the two alleles as a DNA marker related to economic trait to select the Hanwoo in the future.

A Restricted Partition Method to Detect Single Nucleotide Polymorphisms for a Carcass Trait in Hanwoo

  • Lee, Ji-Hong;Kim, Dong-Chul;Kim, Jong-Joo;Lee, Jea-Young
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.11
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    • pp.1525-1528
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    • 2011
  • The purpose of this study was to detect SNPs that were responsible for a carcass trait in Hanwoo populations. A non-parametric model applying a restricted partition method (RPM) was used, which exploited a partitioning algorithm considering statistical criteria for multiple comparison testing. Phenotypic and genotypic data were obtained from the Hanwoo Improvement Center, National Agricultural Cooperation Federation, Korea, in which the pedigree structure comprised 229 steers from 16 paternal half-sib proven sires that were born in Namwon or Daegwanryong livestock testing station between spring of 2002 and fall of 2003. A carcass trait, longissimus dorsi muscle area for each steer was measured after slaughter at approximately 722 days. Three SNPs (19_1, 18_4 and 28_2) near the microsatellite marker ILSTS035 on BTA6, around which the quantitative trait loci (QTL) for meat quality were previously detected, were used in this study. The RPM analyses resulted in two significant interaction effects between SNPs (19_1 and 18_4) and (19_1 and 28_2) at ${\alpha}$ = 0.05 level. However, under a general linear (parametric) model no interaction effect between any pair of the three SNPs was detected, while only one main effect for SNP19_1 was found for the trait. Also, under another non-parametric model using a multifactor dimensionality reduction (MDR) method, only one interaction effect of the two SNPs (19_1 and 28_2) explained the trait significantly better than the parametric model with the main effect of SNP19_1. Our results suggest that RPM is a good alternative to model choices that can find associations of the interaction effects of multiple SNPs for quantitative traits in livestock species.

POU class 1 homeobox 1 gene polymorphisms associated with growth traits in Korean native chicken

  • Manjula, Prabuddha;Choi, Nuri;Seo, Dongwon;Lee, Jun Heon
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.5
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    • pp.643-649
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    • 2018
  • Objective: POU class 1 homeobox 1 (POU1F1) mediates growth hormone expression and activity by altering transcription, eventually resulting in growth rate variations. Therefore, we aimed to identify chicken POU1F1 polymorphisms and evaluate the association between single nucleotide polymorphisms (SNPs) and growth-related traits, and logistic growth curve parameter traits (${\alpha}$, ${\beta}$, and ${\gamma}$). Methods: Three SNPs (M_1 to M_3) were used to genotype 585 $F_1$ and 88 $F_0$ birds from five Korean native chicken lines using a polymerase chain reaction-restriction fragment length polymorphism method. Results: Single marker analyses and traits association analyses showed that M_2 was significantly associated with body weight at two weeks, weight gain from hatch to 2 weeks, and weight gain from 16 to 18 weeks (p<0.05). M_3 was significantly associated with weight gain from 14 to 16 weeks and from 16 to 18 weeks, and asymptotic body weight (${\alpha}$) (p<0.05). No traits were associated with M_1. The POU1F1 haplogroups were significantly associated with weight gain from 14 to 16 weeks (p = 0.020). Linkage disequilibrium test and Haploview analysis shown one main haploblock between M_2 and M_3 SNP. Conclusion: Thus, POU1F1 significantly affects the growth of Korean native chickens and their growth curve traits.

Identification of SNPs in TG and EDG1 genes and their relationships with carcass traits in Korean cattle (Hanwoo) (한우에서 TG와 EDG1 유전자의 단일염기다형 확인 및 도체형질과의 연관성 분석)

  • Cahyadi, Muhammad;Maharani, Dyah;Ryoo, Seung Heui;Lee, Seung Hwan;Lee, Jun Heon
    • Korean Journal of Agricultural Science
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    • v.39 no.3
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    • pp.349-355
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    • 2012
  • Thyroglobulin (TG) gene was known to be regulated fat cell growth and differentiation and the endothelial differentiation sphingolipid G-protein-coupled receptor 1 (EDG1) gene involves blood vessel formation and known to be affecting carcass traits in beef cattle. The aim of this study was to identify the single nucleotide polymorphisms (SNPs) in both TG and EDG1 genes and to analyze the association with carcass traits in Korean cattle (Hanwoo). The T354C SNP in TG gene located at the 3' flanking region and c.-312A>G SNP located at 3'-UTR of EDG1 gene were used for genotyping the animals using PCR-RFLP method. Three genotypes were identified in T354C SNP in TG gene and only two AA and AG genotypes were observed for the c.-312A>G SNP in EDG1 gene. The results indicated that T354C SNP in TG gene was not significantly associated with carcass traits. However, the c.-312A>G SNP in EDG1 gene had significant effects on backfat thickness (BF) and yield index (YI). These results may provide valuable information for further candidate gene studies affecting carcass traits in Korean cattle and may use as marker assisted selection for improving the quality of meat in Hanwoo.

Identification of a Bromodomain-containing Protein 2 (BRD2) Gene Polymorphic Variant and Its Effects on Pork Quality Traits in Berkshire Pigs

  • Lee, Dong Ju;Hwang, Jung Hye;Ha, Jeongim;Yu, Go Eun;Kwon, Seulgi;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;An, Sang Mi;Kim, Chul Wook
    • Food Science of Animal Resources
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    • v.38 no.4
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    • pp.703-710
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    • 2018
  • Bromodomain-containing protein 2 (BRD2) is a nuclear serine/threonine kinase involved in transcriptional regulation. We investigated the expression and association of the BRD2 gene as a candidate gene for meat quality traits in Berkshire pigs. BRD2 mRNA was expressed at relatively high levels in muscle tissue. Statistical analysis revealed that the c.1709G>C polymorphism of the BRD2 gene was significantly associated with carcass weight, meat color ($a^*$, redness), protein content, cooking loss, water-holding capacity, carcass temperatures 4, 12 and 24 h postmortem, and the 24 h postmortem pH in 384 Berkshire pigs. Therefore, this polymorphism in the porcine BRD2 gene may be used as a candidate genetic marker to improve meat quality traits in pigs.

Effects of a Novel p.A41P Mutation in the Swine Myogenic factor 5 (MYF5) Gene on Protein Stabilizing, Muscle Fiber Characteristics and Meat Quality

  • Ryu, Youn-Chul;Lee, Eun-A;Chai, Han-Ha;Park, Jong-Eun;Kim, Jun-Mo
    • Food Science of Animal Resources
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    • v.38 no.4
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    • pp.711-717
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    • 2018
  • Myogenic factor 5 (MYF5) plays an important role in regulating skeletal muscle fiber characteristics, consequently affecting meat production and quality. We identified a novel p.A41P mutation in exon1 of the porcine MYF5 gene by direct sequencing. The mutation was predicted to be destabilizing in protein structure based on the resultant amino acid substitution. We estimated the significant substitution effect of p.A41P on the energy stabilization of Myf5 protein structure. Then, we demonstrated that the mutation in Yorkshire population significantly affected muscle fiber type I composition (p<0.05), loin-eye area of lean meat content (p<0.05) and filter-fluid uptake of meat quality (p<0.01). Furthermore, dominant effects significantly influenced total muscle fiber number (p<0.05). This study suggests that the novel p.A41P mutation in porcine MYF5 may be a valuable genetic marker to affect the muscle fiber characteristics and consequently improve meat production quality and quantity.

Effects of TGF ${\beta}_1$ on the Growth and Biochemical Changes in Cultured Rat Glial Cells (Transforming growth factor ${\beta}_1$이 배양랫트 신경교세포의 성장 및 생화학적 변화에 미치는 영향)

  • Kim, Yong-Sik;Youn, Yong-Ha;Park, Nan-Hyang;Park, Chan-Woong
    • The Korean Journal of Pharmacology
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    • v.30 no.2
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    • pp.167-179
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    • 1994
  • Recent evidence indicates that glial cells have a wide range of funtions which are critical for maintaining a balanced homeostatic environment in the central nervous system(CNS) peripheral nervous system(PNS). Morever, astrocytes are known to participate in the tissue repair and neuroimmunologic events within the CNS through many kinds of growth factors and cytokines. We investigated the effect of $TGF\;{\beta}_1$, on the growth and biochemical changes of rat glial cells in culture. The proliferative effect was determined by $^3H-thymidine$ uptake and the double immunostain with anti-cell-specific marker and anti-Bromodeoxyuridine(BrdU) antibody. To check the effect of biochemical changes we compared the amounts of glial fibrillar acidic protein(GFAP) and the activity of glutamine synthetase(GS) in astrocyte. And the amounts of myelin basic protein and the activity of 2',3'-cyclic nucleotide phosphohydrolase(CNPase) were measured in oligodendrocyte and the amounts of peripheral myelin in Schwann cell. When $TGF\;{\beta}_1$, was treated for 2 days with cultured glial cell, $TGF\;{\beta}_1$, decreased the $^3H-thymidine$ uptake and proliferation index of double immunostain of astrocytes, which indicates the inhibition of astroglial DNA synthesis, but stimulated the growth of Schwann cell. Also, $TGF\;{\beta}_1$, decrease the GS activity and increased the amounts of GFAP in astrocyte. In the case of Schwann cells the amounts of peripheral myelin was increased when treated with $TGF\;{\beta}_1$. However, $TGF\;{\beta}_1$, didn't show any effect on the proliferation and biochemical changes in oligodendrocyte. These results suggest that $TGF\;{\beta}_1$, might have a critical action in the regulation of proliferation and biochemical changes in glial cells, especially astrocyte.

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Sample Size and Statistical Power Calculation in Genetic Association Studies

  • Hong, Eun-Pyo;Park, Ji-Wan
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.117-122
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    • 2012
  • A sample size with sufficient statistical power is critical to the success of genetic association studies to detect causal genes of human complex diseases. Genome-wide association studies require much larger sample sizes to achieve an adequate statistical power. We estimated the statistical power with increasing numbers of markers analyzed and compared the sample sizes that were required in case-control studies and case-parent studies. We computed the effective sample size and statistical power using Genetic Power Calculator. An analysis using a larger number of markers requires a larger sample size. Testing a single-nucleotide polymorphism (SNP) marker requires 248 cases, while testing 500,000 SNPs and 1 million markers requires 1,206 cases and 1,255 cases, respectively, under the assumption of an odds ratio of 2, 5% disease prevalence, 5% minor allele frequency, complete linkage disequilibrium (LD), 1:1 case/control ratio, and a 5% error rate in an allelic test. Under a dominant model, a smaller sample size is required to achieve 80% power than other genetic models. We found that a much lower sample size was required with a strong effect size, common SNP, and increased LD. In addition, studying a common disease in a case-control study of a 1:4 case-control ratio is one way to achieve higher statistical power. We also found that case-parent studies require more samples than case-control studies. Although we have not covered all plausible cases in study design, the estimates of sample size and statistical power computed under various assumptions in this study may be useful to determine the sample size in designing a population-based genetic association study.