• 제목/요약/키워드: Genome-wide

검색결과 697건 처리시간 0.028초

Deducing Isoform Abundance from Exon Junction Microarray

  • Kim Po-Ra;Oh S.-June;Lee Sang-Hyuk
    • Genomics & Informatics
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    • 제4권1호
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    • pp.33-39
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    • 2006
  • Alternative splicing (AS) is an important mechanism of producing transcriptome diversity and microarray techniques are being used increasingly to monitor the splice variants. There exist three types of microarrays interrogating AS events-junction, exon, and tiling arrays. Junction probes have the advantage of monitoring the splice site directly. Johnson et al., performed a genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays (Science 302:2141-2144, 2003), which monitored splicing at every known exon-exon junctions for more than 10,000 multi-exon human genes in 52 tissues and cell lines. Here, we describe an algorithm to deduce the relative concentration of isoforms from the junction array data. Non-negative Matrix Factorization (NMF) is applied to obtain the transcript structure inferred from the expression data. Then we choose the transcript models consistent with the ECgene model of alternative splicing which is based on mRNA and EST alignment. The probe-transcript matrix is constructed using the NMF-consistent ECgene transcripts, and the isoform abundance is deduced from the non-negative least squares (NNLS) fitting of experimental data. Our method can be easily extended to other types of microarrays with exon or junction probes.

Current Status of Plasmodiophora brassicae Researches in Korea

  • Kim, Hong Gi;Lim, Yong Pyo
    • 한국균학회소식:학술대회논문집
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    • 한국균학회 2015년도 춘계학술대회 및 임시총회
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    • pp.29-29
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    • 2015
  • Clubroot disease is caused by the soil-born obligate plant pathogen Plasmodiophora brassicae. This pathogen can infect all cruciferous vegetables and oil crops, including Brassica rapa, B. oleracea, B. napus, and other Brassica species. Clubroot disease is now considered to be a major problem in Chinese cabbage production in China, Korea, and Japan. We collected several hundreds of P. brassicae infected galls from Korea, and isolated the single spore from the collection. For establishment of novel isolation, and mass-propagation methods for singe spore isolates of P. brassicae pathogen, we developed new filtration method using both cellulose nitrate filter and syringe filter. Accurate detection of P. brassicae pathogen in the field was done by using real-time PCR in the potential infested soil. When we tested the different pathogenicity on commercial Chinese cabbage varieties, P. brassicae from collected galls showed various morphological patterns about clubroot symptom on roots. To date, 8 CR loci have been identified in the B. rapa genome using the quantitative trait loci (QTL) mapping approach, with different resistant sources and isolates. We are trying to develop the molecular marker systems for detect all 8 CR resistant genes. Especially for the study on the interaction between pathogens and CR loci which are not well understood until now, genome wide association studies are doing using the sequenced inbred lines of Chinese cabbage to detect the novel CR genes.

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Genetic and Epigenetic Biomarkers on the Personalized Nutrition

  • An Sung-Whan
    • 한국식품영양과학회:학술대회논문집
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    • 한국식품영양과학회 2004년도 Annual Meeting and International Symposium
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    • pp.271-274
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    • 2004
  • Nutritional genomics is a new field of study of how nutrition interacts with an individual's genome or individual responds to individual diets. Systematic approach of nutritional genomics will likely provide important clues about responders and non-responders. The current interest in personalizing health stems from the breakthroughs emerging in integrative technologies of genomics and epigenomics and the identification of genetic and epigentic diversity in individual's genetic make-up that are associated with variations in many aspects of health, including diet-related diseases. Microarray is a powerful screen system that is being also currently employed in nutritional research. Monitoring of gene expression at genome level is now possible with this technology, which allows the simultaneous assessment of the transcription of tens of thousands of genes and of their relative expression of pathological cells such tumor cells compared with that of normal cells. Epigenetic events such as DNA methylation can result in change of gene expression without involving changes in gene sequence. Recent developed technology of DNAarray-based methylation assay will facilitate wide study of epigenetic process in nutrigenomics. Some of the areas that would benefitfrom these technologies include identifying molecular targets (Biomarkers) for the risk and benefit assessment. These characterized biomarkers can reflect expose, response, and susceptibility to foods and their components. Furthermore the identified new biomarker perhaps can be utilized as a indicator of delivery system fur optimizing health.

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Foldback Intercoil DNA and the Mechanism of DNA Transposition

  • Kim, Byung-Dong
    • Genomics & Informatics
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    • 제12권3호
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    • pp.80-86
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    • 2014
  • Foldback intercoil (FBI) DNA is formed by the folding back at one point of a non-helical parallel track of double-stranded DNA at as sharp as $180^{\circ}$ and the intertwining of two double helixes within each other's major groove to form an intercoil with a diameter of 2.2 nm. FBI DNA has been suggested to mediate intra-molecular homologous recombination of a deletion and inversion. Inter-molecular homologous recombination, known as site-specific insertion, on the other hand, is mediated by the direct perpendicular approach of the FBI DNA tip, as the attP site, onto the target DNA, as the attB site. Transposition of DNA transposons involves the pairing of terminal inverted repeats and 5-7-bp tandem target duplication. FBI DNA configuration effectively explains simple as well as replicative transposition, along with the involvement of an enhancer element. The majority of diverse retrotransposable elements that employ a target site duplication mechanism is also suggested to follow the FBI DNA-mediated perpendicular insertion of the paired intercoil ends by non-homologous end-joining, together with gap filling. A genome-wide perspective of transposable elements in light of FBI DNA is discussed.

A Follow-up Association Study of Genetic Variants for Bone Mineral Density in a Korean Population

  • Ham, Seokjin;Roh, Tae-Young
    • Genomics & Informatics
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    • 제12권3호
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    • pp.114-120
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    • 2014
  • Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

Gene-Gene Interaction Analysis for the Accelerated Failure Time Model Using a Unified Model-Based Multifactor Dimensionality Reduction Method

  • Lee, Seungyeoun;Son, Donghee;Yu, Wenbao;Park, Taesung
    • Genomics & Informatics
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    • 제14권4호
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    • pp.166-172
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    • 2016
  • Although a large number of genetic variants have been identified to be associated with common diseases through genome-wide association studies, there still exits limitations in explaining the missing heritability. One approach to solving this missing heritability problem is to investigate gene-gene interactions, rather than a single-locus approach. For gene-gene interaction analysis, the multifactor dimensionality reduction (MDR) method has been widely applied, since the constructive induction algorithm of MDR efficiently reduces high-order dimensions into one dimension by classifying multi-level genotypes into high- and low-risk groups. The MDR method has been extended to various phenotypes and has been improved to provide a significance test for gene-gene interactions. In this paper, we propose a simple method, called accelerated failure time (AFT) UM-MDR, in which the idea of a unified model-based MDR is extended to the survival phenotype by incorporating AFT-MDR into the classification step. The proposed AFT UM-MDR method is compared with AFT-MDR through simulation studies, and a short discussion is given.

A Newly Isolated Bacteriophage, PBES 02, Infecting Cronobacter sakazakii

  • Lee, Hyung Ju;Kim, Wan Il;Kwon, Young Chan;Cha, Kyung Eun;Kim, Minjin;Myung, Heejoon
    • Journal of Microbiology and Biotechnology
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    • 제26권9호
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    • pp.1629-1635
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    • 2016
  • A novel bacteriophage, PBES 02, infecting Cronobacter sakazakii was isolated and characterized. It has a spherical head of 90 nm in diameter and a tail of 130 nm in length, and belongs to Myoviridae as observed under a transmission electron microscope. The major virion protein appears to be 38 kilodaltons (kDa) in size. The latent period of PBES 02 is 30 min and the burst size is 250. Infectivity of the phage remained intact after exposure to temperatures ranging from 4℃ to 55℃ for 1 h. It was also stable after exposure to pHs ranging from 6 to 10 for 1 h. The phage effectively removed contaminating Cronobacter sakazakii from broth infant formula. PBES 02 has a double-stranded DNA genome of 149,732 bases. Its GC ratio is 50.7%. Sequence analysis revealed that PBES 02 has 299 open reading frames (ORFs) and 14 tRNA genes. Thirty-nine ORFs were annotated, including 24 related to replication and regulation functions, 10 related to structural proteins, and 5 related to DNA packaging. The genome of PBES 02 is closely related to that of two other C. sakazakii phages, CR3 and CR8. Comparison of DNA sequences of genes encoding the major capsid protein revealed a wide geographical distribution of related phages over Asia, Europe, and America.

Rapid Detection and Isolation of Known and Putative $\alpha-L-Arabinofuranosidase$ Genes Using Degenerate PCR Primers

  • Park, Jung-Mi;Han, Nam-Soo;Kim, Tae-Jip
    • Journal of Microbiology and Biotechnology
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    • 제17권3호
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    • pp.481-489
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    • 2007
  • [ $\alpha$ ]-L-Arabinofuranosidases (AFases; EC 3.2.1.55) are exo-type enzymes, which hydrolyze terminal nonreducing arabinose residues from various polysaccharides such as arabinan and arabinoxylan. Genome-wide BLAST search showed that various bacterial strains possess the putative AFase genes with well-conserved motif sequences at the nucleotide and amino acid sequence levels. In this study, two sets of degenerate PCR primers were designed and tested to detect putative AFase genes, based on their three highly conserved amino acid blocks (PGGNFV, GNEMDG; and DEWNVW). Among 20 Bacillus-associated species, 13 species were revealed to have putative AFase genes in their genome and they share over 67% of amino acid identities with each other. Based on the partial sequence obtained from an isolate, an AFase from Geobacillus sp. was cloned and expressed in E. coli. Enzymatic characterization has verified that the resulting enzyme corresponds to a typical AFase. Accordingly, degenerate PCR primers developed in this work can be used for fast, easy, and specific detection and isolation of putative AFase genes from bacterial cells.

유전체정보활용 한우개량효율 증진 (Implementation of genomic selection in Hanwoo breeding program)

  • 이승환;조용민;이준헌;오성종
    • 농업과학연구
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    • 제42권4호
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    • pp.397-406
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    • 2015
  • Quantitative traits are mostly controlled by a large number of genes. Some of these genes tend to have a large effect on quantitative traits in cattle and are known as major genes primarily located at quantitative trait loci (QTL). The genetic merit of animals can be estimated by genomic selection, which uses genome-wide SNP panels and statistical methods that capture the effects of large numbers of SNPs simultaneously. In practice, the accuracy of genomic predictions will depend on the size and structure of reference and training population, the effective population size, the density of marker and the genetic architecture of the traits such as number of loci affecting the traits and distribution of their effects. In this review, we focus on the structure of Hanwoo reference and training population in terms of accuracy of genomic prediction and we then discuss of genetic architecture of intramuscular fat(IMF) and marbling score(MS) to estimate genomic breeding value in real small size of reference population.

사람 치주질환병소의 치은연하지면세균막에서 분리된 Fusobacterium nucleatum KCOM 1323의 유전체 염기서열 해독 (Complete genome sequence of Fusobacterium nucleatum KCOM 1323 isolated from a human subgingival plaque of periodontitis lesion)

  • 박순낭;임윤경;신자영;노한성;국중기
    • 미생물학회지
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    • 제53권3호
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    • pp.219-221
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    • 2017
  • Fusobacterium nucleatum는 그람 음성이면서, 절대 혐기성 및 막대 또는 가는 섬유 모양의 세균이다. F. nucleatum는 사람의 구강 내 정상세균총의 하나이고, 치주질환의 원인인자이면서 다양한 전신질환과도 연관성이 있다. F. nucleatum KCOM 1323 (= ChDC F317) 균주가 사람 치주질환 병소의 치은연하치면세균막에서 분리되었다. F. nucleatum KCOM 1323 균주 유전체 염기서열을 해독하여 보고한다.