• 제목/요약/키워드: Individual genome

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정밀영양: 개인 간 대사 다양성을 이해하기 위한 접근 (Precision nutrition: approach for understanding intra-individual biological variation)

  • 김양하
    • Journal of Nutrition and Health
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    • 제55권1호
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    • pp.1-9
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    • 2022
  • In the past few decades, great progress has been made on understanding the interaction between nutrition and health status. But despite this wealth of knowledge, health problems related to nutrition continue to increase. This leads us to postulate that the continuing trend may result from a lack of consideration for intra-individual biological variation on dietary responses. Precision nutrition utilizes personal information such as age, gender, lifestyle, diet intake, environmental exposure, genetic variants, microbiome, and epigenetics to provide better dietary advices and interventions. Recent technological advances in the artificial intelligence, big data analytics, cloud computing, and machine learning, have made it possible to process data on a scale and in ways that were previously impossible. A big data platform is built by collecting numerous parameters such as meal features, medical metadata, lifestyle variation, genome diversity and microbiome composition. Sophisticated techniques based on machine learning algorithm can be used to integrate and interpret multiple factors and provide dietary guidance at a personalized or stratified level. The development of a suitable machine learning algorithm would make it possible to suggest a personalized diet or functional food based on analysis of intra-individual metabolic variation. This novel precision nutrition might become one of the most exciting and promising approaches of improving health conditions, especially in the context of non-communicable disease prevention.

Complete Genome Sequence of the RNAs 3 and 4 Segments of Rice stripe virus Isolates in Korea and their Phylogenetic Relationships with Japan and China Isolates

  • Jonson, Miranda Gilda;Choi, Hong-Soo;Kim, Jeong-Soo;Choi, Il-Ryong;Kim, Kook-Hyung
    • The Plant Pathology Journal
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    • 제25권2호
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    • pp.142-150
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    • 2009
  • The complete genome sequences of RNA3 and RNA4 of the 13 different Rice stripe virus (RSV) isolates were determined and characterized in this study to address the possible causes of the recent re-emergence of RSV that affected many rice fields in Korea. The genome size of each RNA segment varied among isolates and significant differences were observed in the intergenic region. There was up to 4% average divergence in the RNA4 nucleotide sequence among 13 Korean isolates and only 1.4% in the RNA3. Phylogenetic relationships among different Korean isolates revealed that there were at least 2 types of RNA3 and 4 distinct types of RNA4 genomes present in Korea. However, Korean isolates with one type of RNA3 predominate over the other while the occurrences of the RSV Korean isolates with the 4 types of RNA4 genome were not correlated to specific geographical areas. Results further indicate that RNA4 had diverged more than RNA3 and these differences in accumulation of mutations in the individual RNA segments indicate that genetic reassortment were likely to contribute to the genetic divergence in the 13 Korean isolates. All of the Korean-RNA3 sequences except for one isolate grouped with Chinese isolates (JY and Z). In contrast, the RNA 4 sequences segregated together with either Chinese (JY and Z) and Japanese (M and T) isolates but genetic relationships of Korean isolates- RNAs 3 and 4 segments to Chinese-Y isolate were low. Altogether, these results suggest that the occurrence of mixtures of RNAs 3 and 4 genotypes in the natural population of RSV may have contributed to the sudden outbreak in Korea.

Genome-wide Analysis of Aberrant DNA Methylation for Identification of Potential Biomarkers in Colorectal Cancer Patients

  • Fang, Wei-Jia;Zheng, Yi;Wu, Li-Ming;Ke, Qing-Hong;Shen, Hong;Yuan, Ying;Zheng, Shu-Sen
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.1917-1921
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    • 2012
  • Background: Colorectal cancer is one of the leading causes of mortality worldwide. Genome wide analysis studies have identified sequence mutations causing loss-of-function that are associated with disease occurrence and severity. Epigenetic modifications, such DNA methylation, have also been implicated in many cancers but have yet to be examined in the East Asian population of colorectal cancer patients. Methods: Biopsies of tumors and matched non-cancerous tissue types were obtained and genomic DNA was isolated and subjected to the bisulphite conversion method for comparative DNA methylation analysis on the Illumina Infinium HumanMethylation27 BeadChip. Results: Totals of 258 and 74 genes were found to be hyper- and hypo-methylated as compared to the individual's matched control tissue. Interestingly, three genes that exhibited hypermethylation in their promoter regions, CMTM2, ECRG4, and SH3GL3, were shown to be significantly associated with colorectal cancer in previous studies. Using heatmap cluster analysis, eight hypermethylated and 10 hypomethylated genes were identified as significantly differentially methylated genes in the tumour tissues. Conclusions: Genome-wide methylation profiling facilitates rapid and simultaneous analysis of cancerous cells which may help to identify methylation markers with high sensitivity and specificity for diagnosis and prognosis. Our results show the promise of the microarray technology in identification of potential methylation biomarkers for colorectal cancers.

Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts

  • Shim, Unjin;Kim, Han-Na;Sung, Yeon-Ah;Kim, Hyung-Lae
    • Genomics & Informatics
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    • 제12권4호
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    • pp.195-202
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    • 2014
  • Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies (GWASs), important susceptibility loci have been identified. However, GWASs focus more on individual single-nucleotide polymorphisms (SNPs), explaining only a small portion of genetic heritability. To overcome this limitation, pathway analyses are being applied to GWAS datasets. The aim of this study is to elucidate the biological pathways involved in the pathogenesis of MetS through pathway analysis. Cohort data from the Korea Associated Resource (KARE) was used for analysis, which include 8,842 individuals (age, $52.2{\pm}8.9years$ ; body mass index, $24.6{\pm}3.2kg/m^2$). A total of 312,121 autosomal SNPs were obtained after quality control. Pathway analysis was conducted using Meta-analysis Gene-Set Enrichment of Variant Associations (MAGENTA) to discover the biological pathways associated with MetS. In the discovery phase, SNPs from chromosome 12, including rs11066280, rs2074356, and rs12229654, were associated with MetS (p < $5{\times}10^{-6}$), and rs11066280 satisfied the Bonferroni-corrected cutoff (unadjusted p < $1.38{\times}10^{-7}$, Bonferroni-adjusted p < 0.05). Through pathway analysis, biological pathways, including electron carrier activity, signaling by platelet-derived growth factor (PDGF), the mitogen-activated protein kinase kinase kinase cascade, PDGF binding, peroxisome proliferator-activated receptor (PPAR) signaling, and DNA repair, were associated with MetS. Through pathway analysis of MetS, pathways related with PDGF, mitogen-activated protein kinase, and PPAR signaling, as well as nucleic acid binding, protein secretion, and DNA repair, were identified. Further studies will be needed to clarify the genetic pathogenesis leading to MetS.

Chromosome numbers and polyploidy events in Korean non-commelinids monocots: A contribution to plant systematics

  • JANG, Tae-Soo;WEISS-SCHNEEWEISS, Hanna
    • 식물분류학회지
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    • 제48권4호
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    • pp.260-277
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    • 2018
  • The evolution of chromosome numbers and the karyotype structure is a prominent feature of plant genomes contributing to or at least accompanying plant diversification and eventually leading to speciation. Polyploidy, the multiplication of whole chromosome sets, is widespread and ploidy-level variation is frequent at all taxonomic levels, including species and populations, in angiosperms. Analyses of chromosome numbers and ploidy levels of 252 taxa of Korean non-commelinid monocots indicated that diploids (ca. 44%) and tetraploids (ca. 14%) prevail, with fewer triploids (ca. 6%), pentaploids (ca. 2%), and hexaploids (ca. 4%) being found. The range of genome sizes of the analyzed taxa (0.3-44.5 pg/1C) falls well within that reported in the Plant DNA C-values database (0.061-152.33 pg/1C). Analyses of karyotype features in angiosperm often involve, in addition to chromosome numbers and genome sizes, mapping of selected repetitive DNAs in chromosomes. All of these data when interpreted in a phylogenetic context allow for the addressing of evolutionary questions concerning the large-scale evolution of the genomes as well as the evolution of individual repeat types, especially ribosomal DNAs (5S and 35S rDNAs), and other tandem and dispersed repeats that can be identified in any plant genome at a relatively low cost using next-generation sequencing technologies. The present work investigates chromosome numbers (n or 2n), base chromosome numbers (x), ploidy levels, rDNA loci numbers, and genome size data to gain insight into the incidence, evolution and significance of polyploidy in Korean monocots.

Genome-wide identification and expression profiling of the pectin methylesterase gene family in Citrus sinensis (L.) Osbeck

  • Ho Bang Kim;Chang Jae Oh;Nam-Hoon Kim;Cheol Woo Choi;Minju Kim;Sukman Park;Seong Beom Jin;Su-Hyun Yun;Kwan Jeong Song
    • Journal of Plant Biotechnology
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    • 제49권4호
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    • pp.271-291
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    • 2022
  • Pectin methylesterase (PME) plays an important role in vegetative and reproductive development and biotic/abiotic stress responses by regulating the degree of methyl-esterification of pectic polysaccharides in the plant cell wall. PMEs are encoded by a large multigene family in higher land plant genomes. In general, the expression of plant PME genes shows tissue- or cell-specific patterns and is induced by endogenous and exogenous stimuli. In this study, we identified PME multigene family members (CsPMEs) from the sweet orange genome and report detailed molecular characterization and expression profiling in different citrus tissues and two fruit developmental stages. We also discussed the possible functional roles of some CsPME genes by comparing them with the known functions of PMEs from other plant species. We identified 48 CsPME genes from the citrus genome. A phylogenetic tree analysis revealed that the identified CsPMEs were divided into two groups/types. Some CsPMEs showed very close phylogenetic relationships with the PMEs whose functions were formerly addressed in Arabidopsis, tomato, and maize. Expression profiling showed that some CsPME genes are highly or specifically expressed in the leaf, root, flower, or fruit. Based on the phylogenetic relationships and gene expression profiling results, we suggest that some CsPMEs could play functional roles in pollen development, pollen tube growth, cross incompatibility, root development, embryo/seed development, stomata movement, and biotic/abiotic stress responses. Our results shed light on the biological roles of individual CsPME isoforms and contribute to the search for genetic variations in citrus genetic resources.

PCR-RAPD 기법에 의한 무지개송어 Genome DNA 의 다형현상 (Genomic Polymorphisms of Genome DNA by Polymerase Chain Reaction-RAPD Analysis Using Arbitrary Primers in Rainbow Trout)

  • Yoon, J.M.
    • 한국가축번식학회지
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    • 제23권4호
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    • pp.303-311
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    • 1999
  • 본 연구는 정자세포로부터 분리된 genome 내 DNA를 PCR 기법으로 증폭시킨 후 random amplified polymorphic DNA(RAPD) 분석을 통해 무지개송어의 품종 내 유전적 특성과 변이성을 해석하고 품종의 특이 유전적 표지를 개발하기 위해서 수행되었다. 20 종류의 primer를 사용하여 RAPD 양상을 검색한 후 다형현상의 출현빈도와 band 수에 기초하여 이들 중 6개의 primer를 선정하여 이용하였다. 그 중에 4개의 primer는 17개의 RAPD marker를 나타내었고, 그중 primer 당 8개인 48개 (28%)의 band 가 다형성을 보여주었다. 6개의 primer 중 4개는 개체들 사이에 다형성을 나타내는 band를 나타내었다. Bandsharing 의 경우 연어와 비교될 만큼 무지개송어는 3개의 특이적인 DNA marker를 가지고 있었다 (2.3. 2.0 및 1.3kb). 같은 무작위 primer를 이용해서 나타난 개별적인 band는 단일 primer 가 무지개송어의 정자핵 DNA의 경우 적어도 3개의 독립적인 genome 내 다형성을 탐지해 낼 수 있다는 것을 제시하고 있다. 이러한 primer에 의해서 나타난 RAPD 다형성은 개체식별을 위한 유전적 표지인자로서 사용될 수 있는 가능성을 제시하였으며, RAPD-PCR은 많은 어종에서 다형현상을 밝혀내는 기술이라 할 수 있다. 본 연구는 RAPD marker가 풍부하고 재현성이 있으며 RAPD 다형성을 지닌 marker를 사용하여 이러한 중요한 양식대상어종에서 미래의 gene mapping과 MAS 를 위한 기초를 제공해 줄 수 있다. RAPD 다형성은 어류의 품종 분화를 위한 유전적 표지로서 유용한 것으로 결론지을 수 있을 것이다.

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Evidence of genome duplication revealed by sequence analysis of multi-loci expressed sequence tagesimple sequence repeat bands in Panax ginseng Meyer

  • Kim, Nam-Hoon;Choi, Hong-Il;Kim, Kyung Hee;Jang, Woojong;Yang, Tae-Jin
    • Journal of Ginseng Research
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    • 제38권2호
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    • pp.130-135
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    • 2014
  • Background: Panax ginseng, the most famous medicinal herb, has a highly duplicated genome structure. However, the genome duplication of P. ginseng has not been characterized at the sequence level. Multiple band patterns have been consistently observed during the development of DNA markers using unique sequences in P. ginseng. Methods: We compared the sequences of multiple bands derived from unique expressed sequence tagsimple sequence repeat (EST-SSR) markers to investigate the sequence level genome duplication. Results: Reamplification and sequencing of the individual bands revealed that, for each marker, two bands around the expected size were genuine amplicons derived from two paralogous loci. In each case, one of the two bands was polymorphic, showing different allelic forms among nine ginseng cultivars, whereas the other band was usually monomorphic. Sequences derived from the two loci showed a high similarity, including the same primer-binding site, but each locus could be distinguished based on SSR number variations and additional single nucleotide polymorphisms (SNPs) or InDels. A locus-specific marker designed from the SNP site between the paralogous loci produced a single band that also showed clear polymorphism among ginseng cultivars. Conclusion: Our data imply that the recent genome duplication has resulted in two highly similar paralogous regions in the ginseng genome. The two paralogous sequences could be differentiated by large SSR number variations and one or two additional SNPs or InDels in every 100 bp of genic region, which can serve as a reliable identifier for each locus.

유전체맞춤의료를 둘러싼 인체유래물 및 인간유전체 정보의 도덕성 논쟁 - 잊혀질 권리와 공유할 의무를 중심으로 - (Moral Debate on the Use of Human Materials and Human Genome Information in Personalized Genomic Medicine: - A Study Focusing on the Right to be Forgotten and Duty to Share -)

  • 정창록
    • 의료법학
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    • 제17권1호
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    • pp.45-105
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    • 2016
  • 본 논문은 현대 유전체 맞춤 의료에서 인간유전체 정보를 둘러싼 잊혀질 권리와 공유할 의무를 중심으로 전개되는 논쟁들을 살펴보고 그 의의를 고찰하는 것을 목적으로 한다. 이 목적을 위해 필자는 먼저 인간유전체 맞춤 의료의 정의와 이슈를 정리해 볼 것이다. 이후 본 논문은 인체유래물 및 인간유전체 정보를 둘러싼 논란을 크게 두 방향에서 전개한다. 두 방향이란 인간유전체 정보의 소위 개인적인 측면과 공동체적 측면을 말한다. 인간유전체 정보는 과연 누구의 것일까? 한 개인의 것일까? 그 개인이 속한 가족이나 공동체의 것일까? 필자는 인간유전체 정보가 이 두 속성을 모두 갖는다고 본다. 그리고 이 두 속성은 정보가공과 관련하여 개인과 공동체의 입장차를 중심으로 정보가공자인 연구자와 정보소유를 둘러싼 몇몇 문제를 제기한다. 그리고 이렇게 제기된 문제는 또 다른 의문을 불러일으킨다. 인체유래물로부터 그 정보를 가공한 연구자는 그 정보에 대해 얼마만큼의 소유권을 주장할 수 있을 것인가? 본 논문에서 필자는 이러한 문제의식들을 가지고 헬라세포(HeLa cell), 트리스탄 다 쿠나(Tristan da Cunha)섬 사람들의 천식유전자 특허, 과이미(Guaymi)여성 세포주, 하가하이(Hagahai)남성 세포주 등의 사례를 통해 유전체 맞춤의료를 위한 연구와 유전정보데이터베이스 구축에서 벌어지는 다양한 논쟁점들을 고찰해 보려 노력한다. 마지막으로 필자는 인체유래물 및 인간유전체 정보의 잊혀질 권리와 공유할 의무의 변증법적 종합을 몇몇 도덕철학자들의 입장을 통해 시도해 본다.

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Quantitative structure-activity relationships (QSAR) on use of multi-valued AND/OR networks

  • Aoyama, Tomoo;Nagashima, Umpei
    • 제어로봇시스템학회:학술대회논문집
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    • 제어로봇시스템학회 2002년도 ICCAS
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    • pp.89.5-89
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    • 2002
  • The technology to predict new chemical compounds by using properties of already known compounds is a kind of data mining and an important technology in chemical industrial fields. Many knowledge have been accumulated in the fields, and especially nowadays in the field of medicine development industry, the technology is connected with the post genome technology, and generates a new conception, physiome. The word is defined as followings. It is the quantitative and integrated description of the functional behavior of the physiological state of an individual or species. The physiome describes the physiological of the normal intact organism and is built on information and structure, that is geno...

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