• Title/Summary/Keyword: Individual genome

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Bitter Taste Receptor TAS2R38 Genetic Variation (rs10246939), Dietary Nutrient Intake, and Bio-Clinical Parameters in Koreans

  • Benish;Jeong-Hwa Choi
    • Clinical Nutrition Research
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    • v.12 no.1
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    • pp.40-53
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    • 2023
  • Differential bitterness perception associated with genetic polymorphism in the bitter taste receptor gene taste 2 receptor member 38 (TAS2R38) may influence an individual's food preferences, nutrition consumption, and eventually chronic nutrition-related disorders including cardiovascular disease. Therefore, the effect of genetic variations on nutritional intake and clinical markers needs to be elaborated for health and disease prevention. In this study, we conducted sex-stratified analysis to examine the association between genetic variant TAS2R38 rs10246939 A > G with daily nutritional intake, blood pressure, and lipid parameters in Korean adults (males = 1,311 and females = 2,191). We used the data from the Multi Rural Communities Cohort, Korean Genome and Epidemiology Study. Findings suggested that the genetic variant TAS2R38 rs10246939 was associated with dietary intake of micronutrients including calcium (adjusted p = 0.007), phosphorous (adjusted p = 0.016), potassium (adjusted p = 0.022), vitamin C (adjusted p = 0.009), and vitamin E (adjusted p = 0.005) in females. However, this genetic variant did not influence blood glucose, lipid profile parameters, and other blood pressure markers. These may suggest that this genetic variation is associated with nutritional intake, but its clinical effect was not found. More studies are needed to explore whether TAS2R38 genotype may be a potential predictive marker for the risk of metabolic diseases via modulation of dietary intake.

Current Status of Cattle Genome Sequencing and Analysis using Next Generation Sequencing (차세대유전체해독 기법을 이용한 소 유전체 해독 연구현황)

  • Choi, Jung-Woo;Chai, Han-Ha;Yu, Dayeong;Lee, Kyung-Tai;Cho, Yong-Min;Lim, Dajeong
    • Journal of Life Science
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    • v.25 no.3
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    • pp.349-356
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    • 2015
  • Thanks to recent advances in next-generation sequencing (NGS) technology, diverse livestock species have been dissected at the genome-wide sequence level. As for cattle, there are currently four Korean indigenous breeds registered with the Domestic Animal Diversity Information System of the Food and Agricultural Organization of the United Nations: Hanwoo, Chikso, Heugu, and Jeju Heugu. These native genetic resources were recently whole-genome resequenced using various NGS technologies, providing enormous single nucleotide polymorphism information across the genomes. The NGS application further provided biological such that Korean native cattle are genetically distant from some cattle breeds of European origins. In addition, the NGS technology was successfully applied to detect structural variations, particularly copy number variations that were usually difficult to identify at the genome-wide level with reasonable accuracy. Despite the success, those recent studies also showed an inherent limitation in sequencing only a representative individual of each breed. To elucidate the biological implications of the sequenced data, further confirmatory studies should be followed by sequencing or validating the population of each breed. Because NGS sequencing prices have consistently dropped, various population genomic theories can now be applied to the sequencing data obtained from the population of each breed of interest. There are still few such population studies available for the Korean native cattle breeds, but this situation will soon be improved with the recent initiative for NGS sequencing of diverse native livestock resources, including the Korean native cattle breeds.

Identification of Domesticated Silkworm Varieties Using a Whole Genome Single Nucleotide Polymorphisms-based Decision Tree (전장유전체 SNP 기반 decision tree를 이용한 누에 품종 판별)

  • Park, Jong Woo;Park, Jeong Sun;Jeong, Chan Young;Kwon, Hyeok Gyu;Kang, Sang Kuk;Kim, Seong-Wan;Kim, Nam-Suk;Kim, Kee Young;Kim, Iksoo
    • Journal of Life Science
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    • v.32 no.12
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    • pp.947-955
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    • 2022
  • Silkworms, which have recently shown promise as functional health foods, show functional differences between varieties; therefore, the need for variety identification is emerging. In this study, we analyzed the whole silkworm genome to identify 10 unique silkworm varieties (Baekhwang, Baekok, Daebaek, Daebak, Daehwang, Goldensilk, Hansaeng, Joohwang, Kumkang, and Kumok) using single nucleotide polymorphisms (SNP) present in the genome as biomarkers. In addition, nine SNPs were selected to discriminate between varieties by selecting SNPs specific to each variety. We subsequently created a decision tree capable of cross-verifying each variety and classifying the varieties through sequential analysis. Restriction fragment length polymorphism (RFLP) was used for SNP867 and SNP9183 to differentiate between the varieties of Daehwang and Goldensilk and between Kumkang and Daebak, respectively. A tetra-primer amplification refractory (T-ARMS) mutation was used to analyze the remaining SNPs. As a result, we could isolate the same group or select an individual variety using the nine unique SNPs from SNP780 to SNP9183. Furthermore, nucleotide sequence analysis for the region confirmed that the alleles were identical. In conclusion, our results show that combining SNP analysis of the whole silkworm genome with the decision tree is of high value as a discriminative marker for classifying silkworm varieties.

Cloning and Sequence Analysis of the Full-length cDNA of Coxsackievirus B3 Isolated in Korea (한국에서 분리된 콕사키 바이러스 B3 cDNA의 클로닝 및 전체 염기서열 분석)

  • Chung, Yoon-Seok;Kim, Ki-Soon;Park, Jeong-Koo;Lee, Yoon-Sung;Shin, Soo-Youn;Cheon, Doo-Seong;Jee, Young-Mee;Kim, Moon-Bo;Na, Byoung-Kuk;Yoon, Jae-Deuk;Lee, Kwang-Ho;Song, Chul-Yong
    • The Journal of Korean Society of Virology
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    • v.30 no.1
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    • pp.71-81
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    • 2000
  • We have determined and analyzed the full-length cDNA sequence of a coxsackievirus B3 (CVB3) Korean isolate (CVB3-Korea/97) which has been known as a general human pathogen. The whole genome contains 7,400 nucleotides and has a single large open reading frame with 6,555 nucleotides that encodes a potential polyprotein precursor of 2,185 amino acids. The genome also contains a 5' non-coding region (NCR) of 741 bases and a 3' NCR of 104 bases followed by poly(A) tail. Sequence homologies of nucleotides and deduced amino acids between the CVB3-Korea/97 strain and the prototype (Nancy strain) were 81.7% and 91.5%, respectively. The genes encoding the functional proteins including viral protease and RNA dependent RNA polymerase showed higher homology than those encoding the structural proteins. We have further analyzed the sequences of 5' NCR, VP1 and VP2 of CVB3-Korea/97, which are known as cardiovirulent determining factors at the nucleotide and amino acid levels. Although the CVB 3-Korea/97 strain was isolated from an aseptic meningitis patient without cardiomyopathy, its 234th nucleotide and 165th amino acid were uracil and Asn as same as those of other cardiovirulent strains one. However, the 155th amino acid of VP1, which closely associated with cardiovirulence, was replaced with $Arg^{155}$ by single nucleotide substitution from $A^{2916}$ to $T^{2916}$. Moreover, additional amino acid substitutions were observed in the flanking region of $Asp^{155}$. Taken together, amino acid(s) substitution in VP1 may playa critical role in determining cardiovirulence of the CVB3-Korea/97 strain rather than individual nucleotide replacements in the 5' NCR and/or an amino acid substitution in VP2.

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Genetic diversity among cultivated and wild Panax ginseng populations revealed by high-resolution microsatellite markers

  • Jang, Woojong;Jang, Yeeun;Kim, Nam-Hoon;Waminal, Nomar Espinosa;Kim, Young Chang;Lee, Jung Woo;Yang, Tae-Jin
    • Journal of Ginseng Research
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    • v.44 no.4
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    • pp.637-643
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    • 2020
  • Background: Ginseng (Panax ginseng Meyer) is one of the world's most valuable medicinal plants with numerous pharmacological effects. Ginseng has been cultivated from wild mountain ginseng collections for a few hundred years. However, the genetic diversity of cultivated and wild ginseng populations is not fully understood. Methods: We developed 92 polymorphic microsatellite markers based on whole-genome sequence data. We selected five markers that represent clear allele diversity for each of their corresponding loci to elucidate genetic diversity. These markers were applied to 147 individual plants, including cultivars, breeding lines, and wild populations in Korea and neighboring countries. Results: Most of the 92 markers displayed multiple-band patterns, resulting from genome duplication, which causes confusion in interpretation of their target locus. The five high-resolution markers revealed 3 to 8 alleles from each single locus. The proportion of heterozygosity (He) ranged from 0.027 to 0.190, with an average of 0.132, which is notably lower than that of previous studies. Polymorphism information content of the markers ranged from 0.199 to 0.701, with an average of 0.454. There was no statistically significant difference in genetic diversity between cultivated and wild ginseng groups, and they showed intermingled positioning in the phylogenetic relationship. Conclusion: Ginseng has a relatively high level of genetic diversity, and cultivated and wild groups have similar levels of genetic diversity. Collectively, our data demonstrate that current breeding populations have abundant genetic diversity for breeding of elite ginseng cultivars.

Genetic diversity and population structure in five Inner Mongolia cashmere goat populations using whole-genome genotyping

  • Tao Zhang;Zhiying Wang;Yaming Li;Bohan Zhou;Yifan Liu;Jinquan Li;Ruijun Wang;Qi Lv;Chun Li;Yanjun Zhang;Rui Su
    • Animal Bioscience
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    • v.37 no.7
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    • pp.1168-1176
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    • 2024
  • Objective: As a charismatic species, cashmere goats have rich genetic resources. In the Inner Mongolia Autonomous Region, there are three cashmere goat varieties named and approved by the state. These goats are renowned for their high cashmere production and superior cashmere quality. Therefore, it is vitally important to protect their genetic resources as they will serve as breeding material for developing new varieties in the future. Methods: Three breeds including Inner Mongolia cashmere goats (IMCG), Hanshan White cashmere goats (HS), and Ujimqin white cashmere goats (WZMQ) were studied. IMCG were of three types: Aerbas (AEBS), Erlangshan (ELS), and Alashan (ALS). Nine DNA samples were collected for each population, and they were genomically re-sequenced to obtain high-depth data. The genetic diversity parameters of each population were estimated to determine selection intensity. Principal component analysis, phylogenetic tree construction and genetic differentiation parameter estimation were performed to determine genetic relationships among populations. Results: Samples from the 45 individuals from the five goat populations were sequenced, and 30,601,671 raw single nucleotide polymorphisms (SNPs) obtained. Then, variant calling was conducted using the reference genome, and 17,214,526 SNPs were retained after quality control. Individual sequencing depth of individuals ranged from 21.13× to 46.18×, with an average of 28.5×. In the AEBS, locus polymorphism (79.28) and expected heterozygosity (0.2554) proportions were the lowest, and the homologous consistency ratio (0.1021) and average inbreeding coefficient (0.1348) were the highest, indicating that this population had strong selection intensity. Conversely, ALS and WZMQ selection intensity was relatively low. Genetic distance between HS and the other four populations was relatively high, and genetic exchange existed among the other four populations. Conclusion: The Inner Mongolia cashmere goat (AEBS type) population has a relatively high selection intensity and a low genetic diversity. The IMCG (ALS type) and WZMQ populations had relatively low selection intensity and high genetic diversity. The genetic distance between HS and the other four populations was relatively high, with a moderate degree of differentiation. Overall, these genetic variations provide a solid foundation for resource identification of Inner Mongolia Autonomous Region cashmere goats in the future.

Effects of the interaction between seaweed consumption and the polygenic risk score on inflammation in Korean adults (한국 성인의 해조류 섭취와 다유전자 위험 점수 간의 상호작용이 염증에 미치는 영향)

  • Gayeon Hong;Dayeon Shin
    • Journal of Nutrition and Health
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    • v.57 no.2
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    • pp.211-227
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    • 2024
  • Introduction: Seaweed is a sustainable and underexplored source of bioactive compounds with potent anti-inflammatory activities. However, studies on the interaction between seaweed and genes on inflammation are limited. Purpose: We aimed to evaluate the relationships between seaweed consumption and the polygenic risk scores (PRS) and their interactions with high-sensitivity C-reactive protein (hs-CRP) levels. Methods: Information on seaweed consumption was collected using a food frequency questionnaire, which included laver, kelp, and sea mustard among the items consumed. A total of 31 hs-CRP-related single nucleotide polymorphisms (SNPs) were selected using genome-wide association studies and clumping analysis, and the individual PRS were calculated by weighting the effect size of each allele in the selected SNPs of 39,369 middle-aged (≥40 years) Koreans using the Korean Genome and Epidemiology Study (KoGES)-Health Examinees (HEXA) cohort data. To investigate the interaction between seaweed intake and the PRS on hs-CRP levels >1 mg/L, hazard ratios (HRs) and 95% confidence intervals (CIs) were assessed using multivariable Cox proportional hazards models. Results: During a mean follow-up period of 4.8 years, we recorded 436 patients with elevated hs-CRP levels. Women in the highest tertile of the PRS with the lowest quartile of seaweed intake had an increased incidence of elevated hs-CRP levels compared with women in the lowest tertile of the PRS with the lowest seaweed intake quartile (HR 2.34, 95% CI 1.23-4.45). No significant association was observed among the men. Conclusion: In conclusion, we identified a new interaction between the PRS, seaweed intake, and inflammation in Korean women, and this study suggests that the interaction between the identification of genetic predisposition and dietary seaweed intake may have an impact on determining the risk of developing hyperinflammation in the future.

Microarray Data Analysis of Perturbed Pathways in Breast Cancer Tissues

  • Kim, Chang-Sik;Choi, Ji-Won;Yoon, Suk-Joon
    • Genomics & Informatics
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    • v.6 no.4
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    • pp.210-222
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    • 2008
  • Due to the polygenic nature of cancer, it is believed that breast cancer is caused by the perturbation of multiple genes and their complex interactions, which contribute to the wide aspects of disease phenotypes. A systems biology approach for the identification of subnetworks of interconnected genes as functional modules is required to understand the complex nature of diseases such as breast cancer. In this study, we apply a 3-step strategy for the interpretation of microarray data, focusing on identifying significantly perturbed metabolic pathways rather than analyzing a large amount of overexpressed and underexpressed individual genes. The selected pathways are considered to be dysregulated functional modules that putatively contribute to the progression of disease. The subnetwork of protein-protein interactions for these dysregulated pathways are constructed for further detailed analysis. We evaluated the method by analyzing microarray datasets of breast cancer tissues; i.e., normal and invasive breast cancer tissues. Using the strategy of microarray analysis, we selected several significantly perturbed pathways that are implicated in the regulation of progression of breast cancers, including the extracellular matrix-receptor interaction pathway and the focal adhesion pathway. Moreover, these selected pathways include several known breast cancer-related genes. It is concluded from this study that the present strategy is capable of selecting interesting perturbed pathways that putatively play a role in the progression of breast cancer and provides an improved interpretability of networks of protein-protein interactions.

Assessment of Genetic Variability in Two North Indian Buffalo Breeds Using Random Amplified Polymorphic DNA (RAPD) Markers

  • Sodhi, M.;Mukesh, M.;Anand, A.;Bhatia, S.;Mishra, B.P.
    • Asian-Australasian Journal of Animal Sciences
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    • v.19 no.9
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    • pp.1234-1239
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    • 2006
  • Murrah and NiliRavi are the important North Indian buffalo breeds occupying the prominent position of being the highest milk producers. These breeds are more or less similar at morphological as well as physiological levels. The technique of RAPD-PCR was applied in the present study to identify a battery of suitable random primers to detect genetic polymorphism, elucidation of the genetic structure and rapid assessment of the differences in the genetic composition of these two breeds. A total of 50 random primers were screened in 24 animals each of Murrah and NiliRavi buffaloes to generate RAPD patterns. Of these, 26 (52%) primers amplified the buffalo genome generating 263 reproducible bands. The number of polymorphic bands for the 26 chosen RAPD primers varied from 3 (OPG 06 and B4) to 26 (OPJ 04) with an average of 10.1 bands per primer and size range of 0.2 to 3.2 kb. DNA was also pooled and analyzed to search for population specific markers. Two breed specific RAPD alleles were observed in each of Murrah (OPA02 and OPG16) and NiliRavi (OPG09) DNA pools. RAPD profiles revealed that 11 (4.2%) bands were common to all the 48 individuals of Murrah and NiliRavi buffaloes. Pair-wise band sharing calculated among the individual animals indicated considerable homogeneity of individuals within the breeds. Within breed, band sharing values were relatively greater than those of interbreed values. The low genetic distance (Nei's) value (0.109) estimated in this study is in accordance with the origin and geographical distribution of these breeds. The RAPD analysis indicated high level of genetic similarity between these two important North Indian buffalo breeds.

Characterization and Electron Microscopic Visualization of the Plasmid and the Gene Expression in the Escherichia coli (E. coli의 유전자 발현 및 플라스미드 DNA 구조의 특성에 관한 연구)

  • Kim, Sung-Jun;Park, Yeal;Lee, Sook-Young;Kim, Hong-Seob;Kim, Woo-Kap
    • Applied Microscopy
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    • v.20 no.2
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    • pp.57-70
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    • 1990
  • Characterization and electron microscopic visualization of the plasmid and the gene expression of Escherichia coli were carried out. Transcriptional units of active structural genes were observed after lysis of Escherichia coli cells. The ribosomes attached to the E. coli genome on mRNA molecule as polyribosomes. From this gradient of polyribosome length, we estimated location of mRNA synthesis initiation site. In this experiment, a granule is ofen present which may correspond to a RNA polymerase at the promoter site. pOX1, pOX7, pOX7A, $pOX7{\Delta}1$, pSTP36, pSTP21, pBR322, and pJH12 were visualized by way of electron microscope, and their estimated sizes were determined to be $5.70{\pm}0.08{\mu}m,\;2.15{\pm}0.10{\mu}m,\;2.14{\pm}0.12{\mu}m,\;7.39{\pm}0.08{\mu}m,\;4.03{\pm}0.04{\mu}m,\;1.50{\pm}0.03{\mu}m\;and\;1.25{\pm}0.09{\mu}m$ respectively. One micrometer of measured length corresponded to about 3.0 Kb. Mica-press adsorption method that allows selectivs visualization of the plasmid DNA released in situ from the bacterial cell is rapid and useful for visualization of plasmids. The released plasmid DNA was adsorbed preferently on mica in a divalent cation-free solution. Miller chromatin-spreading method was useful to observe the plasmid and transcripts. BAC method and cytochrome C monolayer were useful to observe the plasmid DNA. Our ability to visualize ultrastructural aspects of the expression of E. coli has given us a unique tool with which to study the regulation the level of an individual gene.

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