• Title/Summary/Keyword: Genome-wide

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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.

Effect of Genetic Correlations on the P Values from Randomization Test and Detection of Significant Gene Groups (유전자 연관성이 랜덤검정 P값과 유의 유전자군의 탐색에 미치는 영향)

  • Yi, Mi-Sung;Song, Hae-Hiang
    • The Korean Journal of Applied Statistics
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    • v.22 no.4
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    • pp.781-792
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    • 2009
  • At an early stage of genomic investigations, a small sample of microarrays is used in gene expression experiments to identify small subsets of candidate genes for a further accurate investigation. Unlike the statistical analysis methods for a large sample of microarrays, an appropriate statistical method for identifying small subsets is a randomization test that provides exact P values. These exact P values from a randomization test for a small sample of microarrays are discrete. The possible existence of differentially expressed genes in the sample of a full set of genes can be tested for the null hypothesis of a uniform distribution. Subsets of smaller P values are of prime interest for a further accurate investigation and identifying these outlier cells from a multinomial distribution of P values is possible by M test of Fuchs et al. (1980). Above all, the genome-wide gene expressions in microarrays are correlated, but the majority of statistical analysis methods in the microarray analysis are based on an independence assumption of genes and ignore the possibly correlated expression levels. We investigated with simulation studies the effect that correlated gene expression levels could have on the randomization test results and M test results, and found that the effects are often not ignorable.

Study on the Associations of Dietary Variety and Nutrition Intake Level by the Number of Survey Days (식이조사 일수에 따른 식사 다양성과 영양소 섭취 수준과의 관계연구)

  • Lee Ji Eun;Ahn Younjhin;Kimm Kuchan;Park Chan
    • Journal of Nutrition and Health
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    • v.37 no.10
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    • pp.908-916
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    • 2004
  • Due to the common dietary practice of preparing foods in various ways using the same food item, in addition to rather a large number of food items that average Koreans consume, it is difficult to accurately assess the nutritional adequacy. In an effort to identify a reliable means of assessing the nutritional adequacy of Korean adults, we analyzed the association between the scores of dietary diversity (DDS) and dietary variety (DVS), and the quality of nutrient intake as assessed by Nutrient Adequacy Ratio (NAR) and Mean Adequacy Ratio (MAR). A three day-dietary record was obtained from each of 324 inhabitants, aged 40 to 69 years (mean :t SD,52.4 $\pm$ 8.7), of a rural area (Ansung) and a mid-sized city (Ansan) of Korea. These individuals were randomly selected among the participants of the Korean Health and Genome Study. The number of consumed foods and food groups were assesses by DDS (scored 1 to 5) and DVS (ranked 30 $\leq$,31 - 40, 41 - 50, 51 - 60, and 60 <) over three-day period, respectively. As DDS/DVS increased, mean daily food intakes tended to increase, and NARIMAR was improved. Thus, DDS and DVS were significantly correlated with the quality of nutrient intake. Over 95% of the subjects scored less than 2 in DDS for the first one-day period, whilst over 62% recorded 4 during the full three-day period (p < .0001). The mean number of consumed food items increased from 24.9 to 44.4 as a function of days of the record period (p < .0001). We also analyzed the association of DDS and DVS with MAR, using regression analysis, controlling age and sex as covariates. For DDS, the adjusted coefficient determination (adj $R^2$) values were 8.7%,15.8%,23.3% of MAR, also increasing as a function of the record duration, whereas they were 27.3%, 33.3%, 37.6% for DVS, respectively, demonstrating that NAR/MAR has a better correlation with DVS than DDS. Our data show that DDS, and DVS in particular, are useful parameters for evaluating nutrient intake in the Korean population. Our data also support that one day-dietary records are by no means adequate for accurately describing a wide variety of food choices offered for average Koreans, and that dietary assessment at least for 3 days or longer should be obtained for a reliable evaluation of dietary quality using DDS or DVS.

Sex-specific differences in the association of a common aldehyde dehydrogenase 2 gene polymorphism and alcohol consumption with stroke risk in a Korean population: a prospective cohort study

  • Shin, Chol;Kwack, KyuBum;Cho, Nam H.;Kim, Seong Hwan;Baik, Inkyung
    • Nutrition Research and Practice
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    • v.9 no.1
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    • pp.79-86
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    • 2015
  • BACKGROUND/OBJECTIVES: It is well-known that alcohol consumption is associated with stroke risk as well as with aldehyde dehydrogenase 2 gene (ALDH2) polymorphisms. However, it is unclear whether ALDH2 polymorphisms are associated with stroke risk independent of alcohol consumption and whether such association is modified by sex. We evaluated sex-specific associations of a common ALDH2 polymorphism and alcohol consumption with stroke risk in a Korean population. SUBJECTS/METHODS: We conducted a prospective cohort study involving 8,465 men and women, aged 40-69 years and free of stroke between June, 2001 and January, 2003, and followed for the development of stroke. We identified new cases of stroke, which were self-reported or ascertained from vital registration data. Based on genome-wide association data, we selected a single-nucleotide polymorphism (rs2074356), which shows high linkage disequilibrium with the functional polymorphism of ALDH2. We conducted Cox proportional hazards regression analysis considering potential risk factors collected from a baseline questionnaire. RESULTS: Over the median follow-up of 8 years, 121 cases of stroke were identified. Carrying the wild-type allele of the ALDH2 polymorphism increased stroke risk among men. The multivariate hazard ratio [95% confidence interval] of stroke was 2.02 [1.03-3.99] for the wild-type allele compared with the mutant alleles, but the association was attenuated after controlling for alcohol consumption. Combinations of the wild-type allele and other risk factors of stroke, such as old age, diabetes mellitus, and habitual snoring, synergistically increased the risk among men. Among women, however, the ALDH2 polymorphism was not associated with stroke risk. CONCLUSIONS: The prospective cohort study showed a significant association between a common ALDH2 polymorphism and stroke risk in Korean men, but not in Korean women, and also demonstrated that men with genetic disadvantages gain more risk when having risk factors of stroke. Thus, these men may need to make more concerted efforts to control modifiable risk factors of stroke.

TEST DB: The intelligent data management system for Toxicogenomics (독성유전체학 연구를 위한 지능적 데이터 관리 시스템)

  • Lee, Wan-Seon;Jeon, Ki-Seon;Um, Chan-Hwi;Hwang, Seung-Young;Jung, Jin-Wook;Kim, Seung-Jun;Kang, Kyung-Sun;Park, Joon-Suk;Hwang, Jae-Woong;Kang, Jong-Soo;Lee, Gyoung-Jae;Chon, Kum-Jin;Kim, Yang-Suk
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2003.10a
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    • pp.66-72
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    • 2003
  • Toxicogenomics is now emerging as one of the most important genomics application because the toxicity test based on gene expression profiles is expected more precise and efficient than current histopathological approach in pre-clinical phase. One of the challenging points in Toxicogenomics is the construction of intelligent database management system which can deal with very heterogeneous and complex data from many different experimental and information sources. Here we present a new Toxicogenomics database developed as a part of 'Toxicogenomics for Efficient Safety Test (TEST) project'. The TEST database is especially focused on the connectivity of heterogeneous data and intelligent query system which enables users to get inspiration from the complex data sets. The database deals with four kinds of information; compound information, histopathological information, gene expression information, and annotation information. Currently, TEST database has Toxicogenomics information fer 12 molecules with 4 efficacy classes; anti cancer, antibiotic, hypotension, and gastric ulcer. Users can easily access all kinds of detailed information about there compounds and simultaneously, users can also check the confidence of retrieved information by browsing the quality of experimental data and toxicity grade of gene generated from our toxicology annotation system. Intelligent query system is designed for multiple comparisons of experimental data because the comparison of experimental data according to histopathological toxicity, compounds, efficacy, and individual variation is crucial to find common genetic characteristics .Our presented system can be a good information source for the study of toxicology mechanism in the genome-wide level and also can be utilized fur the design of toxicity test chip.

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Copy Number Deletion Has Little Impact on Gene Expression Levels in Racehorses

  • Park, Kyung-Do;Kim, Hyeongmin;Hwang, Jae Yeon;Lee, Chang-Kyu;Do, Kyoung-Tag;Kim, Heui-Soo;Yang, Young-Mok;Kwon, Young-Jun;Kim, Jaemin;Kim, Hyeon Jeong;Song, Ki-Duk;Oh, Jae-Don;Kim, Heebal;Cho, Byung-Wook;Cho, Seoae;Lee, Hak-Kyo
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.9
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    • pp.1345-1354
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    • 2014
  • Copy number variations (CNVs), important genetic factors for study of human diseases, may have as large of an effect on phenotype as do single nucleotide polymorphisms. Indeed, it is widely accepted that CNVs are associated with differential disease susceptibility. However, the relationships between CNVs and gene expression have not been characterized in the horse. In this study, we investigated the effects of copy number deletion in the blood and muscle transcriptomes of Thoroughbred racing horses. We identified a total of 1,246 CNVs of deletion polymorphisms using DNA re-sequencing data from 18 Thoroughbred racing horses. To discover the tendencies between CNV status and gene expression levels, we extracted CNVs of four Thoroughbred racing horses of which RNA sequencing was available. We found that 252 pairs of CNVs and genes were associated in the four horse samples. We did not observe a clear and consistent relationship between the deletion status of CNVs and gene expression levels before and after exercise in blood and muscle. However, we found some pairs of CNVs and associated genes that indicated relationships with gene expression levels: a positive relationship with genes responsible for membrane structure or cytoskeleton and a negative relationship with genes involved in disease. This study will lead to conceptual advances in understanding the relationship between CNVs and global gene expression in the horse.

Personalized Dietary SikdanOme Recommendation based on Obesity Related SNP Genotype and Phenotype (비만 관련 SNP genotype-phenotype 정보기반의 맞춤 식단옴 추천)

  • Shin, Ga-Hee;Lee, Sang-Min;Kang, Byeong-Chul;Jang, Dai-Ja;Kwon, Dae Young;Kim, Min-Jung;Kim, Ri-Rang;Kim, Jin-Hee;Yang, Hye Jeong
    • The Journal of the Korea Contents Association
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    • v.16 no.10
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    • pp.435-442
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    • 2016
  • Obesity extends the global economic burden and it causes that the failure of a reduction of physical activity, and diet management. In this work, nutritional information and personalized diet based on calorie supply system and is discriminatory utilized the obesity-related SNP information in order to recommend a personalized functional foods. This study performed a GWAS analysis for the excavation of a Korean-specific and obesity-related SNP, which utilizes genetic information were recommended by entering a personalized diet in accordance with the SNP genotype-phenotype information. In addition, we integrated Database with relation of nutrient for utilizing the USDA Food information and it was applied to recommend with Sickdanome. As a result, the obesity-related SNP information was confirmed in the sample which has the normal value BMI. In this study, we have recognized that the phenotype information related obesity, BMI is inconsistent with the SNP genotype information. This result is shown that it is necessary to provide the personalized dietary SickdanOme recommendation based on the both pheotype-genotype information.

Acinetobacter pullorum sp. nov., Isolated from Chicken Meat

  • Elnar, Arxel G.;Kim, Min-Gon;Lee, Ju-Eun;Han, Rae-Hee;Yoon, Sung-Hee;Lee, Gi-Yong;Yang, Soo-Jin;Kim, Geun-Bae
    • Journal of Microbiology and Biotechnology
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    • v.30 no.4
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    • pp.526-532
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    • 2020
  • A bacterial strain, designated B301T and isolated from raw chicken meat obtained from a local market in Korea, was characterized and identified using a polyphasic taxonomic approach. Cells were gram-negative, non-motile, obligate-aerobic coccobacilli that were catalase-positive and oxidase-negative. The optimum growth conditions were 30℃, pH 7.0, and 0% NaCl in tryptic soy broth. Colonies were round, convex, smooth, and cream-colored on tryptic soy agar. Strain B301T has a genome size of 3,102,684 bp, with 2,840 protein-coding genes and 102 RNA genes. The 16S rRNA gene analysis revealed that strain B301T belongs to the genus Acinetobacter and shares highest sequence similarity (97.12%) with A. celticus ANC 4603T and A. sichuanensis WCHAc060041T. The average nucleotide identity and digital DNA-DNA hybridization values for closely related species were below the cutoff values for species delineation (95-96% and 70%, respectively). The DNA G+C content of strain B301T was 37.0%. The major respiratory quinone was Q-9, and the cellular fatty acids were primarily summed feature 3 (C16:1 ω6c/C16:1 ω7c), C16:0, and C18:1 ω9c. The major polar lipids were phosphatidylethanolamine, diphosphatidyl-glycerol, phosphatidylglycerol, and phosphatidyl-serine. The antimicrobial resistance profile of strain B301T revealed the absence of antibiotic-resistance genes. Susceptibility to a wide range of antimicrobials, including imipenem, minocycline, ampicillin, and tetracycline, was also observed. The results of the phenotypic, chemotaxonomic, and phylogenetic analyses indicate that strain B301T represents a novel species of the genus Acinetobacter, for which the name Acinetobacter pullorum sp. nov. is proposed. The type strain is B301T (=KACC 21653T = JCM 33942T).

Hemicastration induced spermatogenesis-related DNA methylation and gene expression changes in mice testis

  • Wang, Yixin;Jin, Long;Ma, Jideng;Chen, Li;Fu, Yuhua;Long, Keren;Hu, Silu;Song, Yang;Shang, Dazhi;Tang, Qianzi;Wang, Xun;Li, Xuewei;Li, Mingzhou
    • Asian-Australasian Journal of Animal Sciences
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    • v.31 no.2
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    • pp.189-197
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    • 2018
  • Objective: Hemicastration is a unilateral orchiectomy to remove an injured testis, which can induce hormonal changes and compensatory hypertrophy of the remaining testis, and may influence spermatogenesis. However, the underlying molecular mechanisms are poorly understood. Here, we investigated the impact of hemicastration on remaining testicular function. Methods: Prepubertal mice (age 24 days) were hemicastrated, and their growth was monitored until they reached physical maturity (age 72 days). Subsequently, we determined testis DNA methylation patterns using reduced representation bisulfite sequencing of normal and hemicastrated mice. Moreover, we profiled the testicular gene expression patterns by RNA sequencing (RNA-seq) to examine whether methylation changes affected gene expression in hemicastrated mice. Results: Hemicastration did not significantly affect growth or testosterone (p>0.05) compared with control. The genome-wide DNA methylation pattern of remaining testis suggested that substantial genes harbored differentially methylated regions (1,139) in gene bodies, which were enriched in process of protein binding and cell adhesion. Moreover, RNA-seq results indicated that 46 differentially expressed genes (DEGs) involved in meiotic cell cycle, synaptonemal complex assembly and spermatogenesis were upregulated in the hemicastration group, while 197 DEGs were downregulated, which were related to arachidonic acid metabolism. Integrative analysis revealed that proteasome 26S subunit ATPase 3 interacting protein gene, which encodes a protein crucial for homologous recombination in spermatocytes, exhibited promoter hypomethylation and higher expression level in hemicastrated mice. Conclusion: Global profiling of DNA methylation and gene expression demonstrated that hemicastration-induced compensatory response maintained normal growth and testicular morphological structure in mice.

Genome-wide DNA methylation pattern in a mouse model reveals two novel genes associated with Staphylococcus aureus mastitis

  • Wang, Di;Wei, Yiyuan;Shi, Liangyu;Khan, Muhammad Zahoor;Fan, Lijun;Wang, Yachun;Yu, Ying
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.2
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    • pp.203-211
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    • 2020
  • Objective: Staphylococcus aureus (S. aureus) is one of the major microorganisms responsible for subclinical mastitis in dairy cattle. The present study was designed with the aim to explore the DNA methylation patterns using the Fluorescence-labeled methylation-sensitive amplified polymorphism (F-MSAP) techniques in a S. aureus-infected mouse model. Methods: A total of 12 out-bred Institute of Cancer Research female mice ranging from 12 to 13 weeks-old were selected to construct a mastitis model. F-MSAP analysis was carried out to detect fluctuations of DNA methylation between control group and S. aureus mastitis group. Results: Visible changes were observed in white cell counts in milk, percentage of granulocytes, percentage of lymphocytes, CD4+/CD8+ ratio (CD4+/CD8+), and histopathology of mice pre- and post-challenge with S. aureus. These findings showed the suitability of the S. aureus-infected mouse model. A total of 369 fragments was amplified from udder tissue samples from the two groups (S. aureus-infected mastitis group and control group) using eight pairs of selective primers. Results indicated that the methylation level of mastitis mouse group was higher than that in the control group. In addition, NCK-associated protein 5 (Nckap5) and transposon MTD were identified to be differentially methylated through secondary polymerase chain reaction and sequencing in the mastitis group. These observations might play an important role in the development of S. aureus mastitis. Conclusion: Collectively, our study suggests that the methylation modification in Nckap5 and transposon MTD might be considered as epigenetic markers in resistance to S. aureus-infected mastitis and provided a new insight into S. aureus mastitis research in dairy industry and public health.