• Title/Summary/Keyword: single nucleotide polymorphism(SNP)

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ITS Sequence Variations in Populations of Ilex cornuta (Aquifoliaceae) (호랑가시나무(Ilex cornuta) 개체군의 ITS 염기서열 변이 분석)

  • Son, Sung-won;Kim, Joo-Hwan;Kim, Yong-Shik;Park, Seon-Joo
    • Korean Journal of Plant Taxonomy
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    • v.37 no.2
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    • pp.131-141
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    • 2007
  • Genetic variation of Ilex cornuta Lindley et Paxton was examined by sequence analyses of ITS for 65 individuals from Korea and China. The length of ITS 1 ranged from 253 to 259 bp. The 5.8S was 159 bp and ITS2 was observed to be 231 bp. A total of 8 different ITS types (Single Nucleotide Polymorphism haplotypes), which showed the difference of 1 - 6 bp, were detected from 65 individuals. The sequence polymorphisms of ITS appeared at 9 different sites. All of four individuals collected at Daejeong-eup in Jeju-do exhibited different types, but all individuals from Naju-si and Muan-gun in Jeollanam-do were identical. The variation of ITS was higher in Jeju-do population than in inland population. Since I. cornuta contains various types of ITS sequences, ITS analyses will provide important information on genetic diversity and conservation of this species.

Association of the Genotypes of Single Nucleotide Polymorphism Marker rs81437607 with Capric Acid Contents in longissimus dorsi Muscle in Pigs (돼지 등심 내 카프르산 함량과 단일염기다형 마커 rs81437607 유전자형의 상관)

  • Kim, Sang-Geum;Park, Hee-Bok;Kang, Yong-Jun;Shin, Hyunsook;Cho, Sang-Rae;Lee, Wang-Shik;Han, Sang-Hyun;Cho, In-Cheol
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.235-242
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    • 2016
  • This study tested the association between genotypes of the single nucleotide polymorphism (SNP) marker, rs81437607 and capric acid (FA_C10_0) compositions in longissimus dorsi muscle in pigs. Eighteen fatty acid (FA) compositions were measured in a total of 974 $F_2$ animals among 1,106 $F_2$ progeny produced between Landrace and Jeju Black Pig (JBP). Among FA compositions tested, we identified a cluster of highly significant SNPs for capric acid compositions on 58 Mb position of Sus scrofa chromosome 12 (SSC12) using genome-wide association study (GWAS) with $F_2$ genotypes from SNP panel analysis. GWAS results showed that the rs81437607 was the highest trait-related SNP marker with capric acid levels. Three genotypes (C/C, C/T and T/T) of rs81437607 marker were found in $F_2$ population by further pyrosequencing. Association analysis results showed the significant differences between rs81437607 genotypes and capric acid compositions (P<0.05). The $F_2$ pigs harboring rs81437607 C/C ($0.119{\pm}0.002%$) and C/T ($0.116{\pm}0.002%$) genotypes showed additively higher levels of capric acid content than those of T/T homozygotes ($0.109{\pm}0.002%$) ($P=1.30{\times}10^{-12}$). These results suggested that the genetic variations of rs81437607 may be helpful to find causative variants and assist as molecular genetic markers for improving the capric acid contents in longissimus dorsi muscle in pigs.

Genome-wide Association Study to Identify Quantitative Trait Loci for Meat and Carcass Quality Traits in Berkshire

  • Iqbal, Asif;Kim, You-Sam;Kang, Jun-Mo;Lee, Yun-Mi;Rai, Rajani;Jung, Jong-Hyun;Oh, Dong-Yup;Nam, Ki-Chang;Lee, Hak-Kyo;Kim, Jong-Joo
    • Asian-Australasian Journal of Animal Sciences
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    • v.28 no.11
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    • pp.1537-1544
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    • 2015
  • Meat and carcass quality attributes are of crucial importance influencing consumer preference and profitability in the pork industry. A set of 400 Berkshire pigs were collected from Dasan breeding farm, Namwon, Chonbuk province, Korea that were born between 2012 and 2013. To perform genome wide association studies (GWAS), eleven meat and carcass quality traits were considered, including carcass weight, backfat thickness, pH value after 24 hours (pH24), Commission Internationale de l'Eclairage lightness in meat color (CIE L), redness in meat color (CIE a), yellowness in meat color (CIE b), filtering, drip loss, heat loss, shear force and marbling score. All of the 400 animals were genotyped with the Porcine 62K SNP BeadChips (Illumina Inc., USA). A SAS general linear model procedure (SAS version 9.2) was used to pre-adjust the animal phenotypes before GWAS with sire and sex effects as fixed effects and slaughter age as a covariate. After fitting the fixed and covariate factors in the model, the residuals of the phenotype regressed on additive effects of each single nucleotide polymorphism (SNP) under a linear regression model (PLINK version 1.07). The significant SNPs after permutation testing at a chromosome-wise level were subjected to stepwise regression analysis to determine the best set of SNP markers. A total of 55 significant (p<0.05) SNPs or quantitative trait loci (QTL) were detected on various chromosomes. The QTLs explained from 5.06% to 8.28% of the total phenotypic variation of the traits. Some QTLs with pleiotropic effect were also identified. A pair of significant QTL for pH24 was also found to affect both CIE L and drip loss percentage. The significant QTL after characterization of the functional candidate genes on the QTL or around the QTL region may be effectively and efficiently used in marker assisted selection to achieve enhanced genetic improvement of the trait considered.

Development of a CAPS Marker Derived from the Pg-Actin Gene Sequences and RAPD Markers in Platycodon grandiflorum (도라지에서의 RAPD 마커 분석과 Actin 유전자 염기서열에서 유래한 CAPS 분자표지 개발)

  • Kim, Munhwi;Jeong, Eunah;Jeong, Jeongsu;Kwon, Soontae;Jeon, Ikjo;Jeong, Jeong Hag;Lee, Je Min;Yeam, Inhwa
    • Korean Journal of Plant Resources
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    • v.28 no.5
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    • pp.648-655
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    • 2015
  • Balloon flower (Platycodon grandiflorum A. DC.) is a perennial plant of mainly Campanulaceae family, which have been widely used as a food ingredient and herbal medicine in East Asia. Although demands on related products and yearly cultivation area for balloon flower are increasing, diverse fundamental technologies and molecular breeding studies are not very well supported in Platycodons. In this study, 30 random amplification of polymorphic DNA (RAPD) primers were test in an attempt to explore genetic diversities. In addition, sequences information of the actin gene, a well conserved gene encoding a globular protein that forms microfilaments, was retrieved and analyzed. Two actin homologs were recovered; 3.4 kb fragment is a Pg-actin and 1.4 kb fragment is a Pg-actin homolog with 28.6% similarity. We have confirmed that the Pg-actin gene is configured into 4 exons and 3 introns. A single nucleotide polymorphism (SNP), G↔A, was detected on the intron 3, which served as a target for the CAPS marker development. The marker Pg-Actin-Int3 was applied to 32 balloon flower accessions. Balloon flower DNA sequence information generated in this study is expected to contribute to the analysis and molecular breeding and genetic diversity analysis of balloon flowers.

Study on the fatty acid profile of phospholipid and neutral lipid in Hanwoo beef and their relationship to genetic variation

  • Beak, Seok-Hyeon;Lee, Yoonseok;Lee, Eun Bi;Kim, Kyoung Hoon;Kim, Jong Geun;Bok, Jin Duck;Kang, Sang-Kee
    • Journal of Animal Science and Technology
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    • v.61 no.2
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    • pp.69-76
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    • 2019
  • Maize which has very high omega-6 fatty acid content has been used as a main feed grain for Hanwoo beef production to increase marbling, and thus omega-6 to omega-3 fatty acids ratio in Hanwoo beef is expected to be biased. To elucidate the current status of omega fatty acids ratio in Hanwoo beef, fatty acid profiles of neutral lipid and phospholipid fraction were analyzed separately using 55 Hanwoo steers' longissimus dorsi muscle slaughtered at Pyeongchang, Korea from Oct. to Nov. 2015. In addition, an association study was conducted to evaluate associations between single nucleotide polymorphism (SNP) markers from references and omega fatty acid profiles in phospholipid of Hanwoo beef samples using analysis of variance (ANOVA). In neutral lipid fraction, composition of saturated and monounsaturated fatty acids was higher and polyunsaturated fatty acids was lower compared to those in phospholipid fraction. The mean n-6/n-3 ratios of Hanwoo were $56.059{\pm}16.180$ and $26.811{\pm}6.668$ in phospholipid and neutral lipid, respectively. There were three SNPs showing statistically significant associations with omega fatty acid content. GA type of rs41919985 in fatty acid synthase (FASN) was significantly associated with the highest amount of C20:5 n-3 (p = 0.031). CC type of rs41729173 in fatty acid-binding protein 4 (FABP4) was significantly associated with the lowest amount of C22:2n-6 (p = 0.047). AG type of rs42187261 in FADS1 was significantly linked to the lowest concentration of C20:4 n-6 (p = 0.044). The total n-6/n-3 ratio of the steer which has all four SNP types in above loci (27.905) was much lower than the mean value of the total n-6/n-3 ratio in phospholipid of the 55 Hanwoo steers ($56.059{\pm}16.180$). It was found that phospholipid and neutral lipid of Hanwoo have very high n-6/n-3 ratios compared to the reported data from different cow breeds. Four SNPs in genes related with fatty acid metabolism showed significant associations with the fatty acid profile of phospholipid and may have potential as SNP markers to select Hanwoo steers in terms of n-6/n-3 balance in the future.

Characterization of gene expression and genetic variation of horse ERBB receptor feedback inhibitor 1 in Thoroughbreds

  • Choi, Jae-Young;Jang, Hyun-Jun;Park, Jeong-Woong;Oh, Jae-Don;Shin, Donghyun;Kim, Nam Young;Oh, Jin Hyeog;Song, Ki-Duk;Cho, Byung-Wook
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.3
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    • pp.309-315
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    • 2018
  • Objective: This study aimed to test the expression patterns of ERBB receptor feedback inhibitor 1 (ERRFI1) before and after exercise and the association of non-synonymous single-nucleotide polymorphisms (nsSNPs) of horse ERRFI1 with racing traits in Thoroughbreds. Methods: We performed bioinformatics and gene expression analyses for horse ERRFI1. Transcription factor (TF) binding sites in the 5'-regulatory region of this gene were identified through a tool for prediction of TF-binding site (PROMO). A general linear model was used to detect the association between the nsSNP (LOC42830758 A to G) and race performance. Results: Quantitative polymerase chain reaction analysis showed that expression level of ERRFI1 after exercise was 1.6 times higher than that before exercise. Ten transcription factors were predicted from the ERRFI1 regulatory region. A novel nsSNP (LOC42830758 A to G) was found in ERRFI1, which was associated with three racing traits including average prize money, average racing index, and 3-year-old starts percentile ranking. Conclusion: Our analysis will be helpful as a basis for studying genes and SNPs that affect race performance in racehorses.

Categorical Variable Selection in Naïve Bayes Classification (단순 베이즈 분류에서의 범주형 변수의 선택)

  • Kim, Min-Sun;Choi, Hosik;Park, Changyi
    • The Korean Journal of Applied Statistics
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    • v.28 no.3
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    • pp.407-415
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    • 2015
  • $Na{\ddot{i}}ve$ Bayes Classification is based on input variables that are a conditionally independent given output variable. The $Na{\ddot{i}}ve$ Bayes assumption is unrealistic but simplifies the problem of high dimensional joint probability estimation into a series of univariate probability estimations. Thus $Na{\ddot{i}}ve$ Bayes classier is often adopted in the analysis of massive data sets such as in spam e-mail filtering and recommendation systems. In this paper, we propose a variable selection method based on ${\chi}^2$ statistic on input and output variables. The proposed method retains the simplicity of $Na{\ddot{i}}ve$ Bayes classier in terms of data processing and computation; however, it can select relevant variables. It is expected that our method can be useful in classification problems for ultra-high dimensional or big data such as the classification of diseases based on single nucleotide polymorphisms(SNPs).

Cluster Analysis of SNPs with Entropy Distance and Prediction of Asthma Type Using SVM (엔트로피 거리와 SVM를 이용한 SNP 군집분석과 천식 유형 예측)

  • Lee, Jung-Seob;Shin, Ki-Seob;Wee, Kyu-Bum
    • The KIPS Transactions:PartB
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    • v.18B no.2
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    • pp.67-72
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    • 2011
  • Single nucleotide polymorphisms (SNPs) are a very important tool for the study of human genome structure. Cluster analysis of the large amount of gene expression data is useful for identifying biologically relevant groups of genes and for generating networks of gene-gene interactions. In this paper we compared the clusters of SNPs within asthma group and normal control group obtained by using hierarchical cluster analysis method with entropy distance. It appears that the 5-cluster collections of the two groups are significantly different. We searched the best set of SNPs that are useful for diagnosing the two types of asthma using representative SNPs of the clusters of the asthma group. Here support vector machines are used to evaluate the prediction accuracy of the selected combinations. The best combination model turns out to be the five-locus SNPs including one on the gene ALOX12 and their accuracy in predicting aspirin tolerant asthma disease risk among asthmatic patients is 66.41%.

Association of an Anti-inflammatory Cytokine Gene IL4 Polymorphism with the Risk of Type 2 Diabetes Mellitus in Korean Populations

  • Go, Min-Jin;Min, Hae-Sook;Lee, Jong-Young;Kim, Sung-Soo;Kim, Yeon-Jung
    • 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.

Major gene identification for LPL gene in Korean cattles (엘피엘 유전자에 대한 한우의 우수 유전자 조합 선별)

  • Jin, Mi-Hyun;Oh, Dong-Yep;Lee, Jea-Young
    • Journal of the Korean Data and Information Science Society
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    • v.24 no.6
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    • pp.1331-1339
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    • 2013
  • The lipoprotein lipase (LPL) gene can be considered a functional candidate gene that regulates fatty acid composition. Oh etc (2013) investigated the relationship between unsaturated fatty acids and five novel SNPs, and had confirmed that three polymorphic SNPs (c.322G>A, c.329A>T and c.1591G>A) were associated with fatty acid composition. We have used generalized linear model for adjusted environmental effects and multifactor dimensionality reduction (MDR) method to identify gene-gene interaction effect of statistical model in general. We applied the MDR method on the identify major interaction effects of exonic single nucleotide polymorphisms (SNPs) in the LPL gene for economic traits in Korean cattles population.