• 제목/요약/키워드: high throughout sequencing

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Genomic DNA Chip: Genome-wide profiling in Cancer

  • 이종호
    • Proceedings of the Korean Society for Bioinformatics Conference
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    • 2001.10a
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    • pp.61-86
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    • 2001
  • All cancers are caused by abnormalities in DNA sequence. Throughout life, the DNA in human cells is exposed to mutagens and suffers mistakes in replication, resulting in progressive, subtle changes in the DNA sequence in each cell. Since the development of conventional and molecular cytogenetic methods to the analysis of chromosomal aberrations in cancers, more than 1,800 recurring chromosomal breakpoints have been identified. These breakpoints and regions of nonrandom copy number changes typically point to the location of genes involved in cancer initiation and progression. With the introduction of molecular cytogenetic methodologies based on fluorescence in situ hybridization (FISH), namely, comparative genomic hybridization (CGH) and multicolor FISH (m-FISH) in carcinomas become susceptible to analysis. Conventional CGH has been widely applied for the detection of genomic imbalances in tumor cells, and used normal metaphase chromosomes as targets for the mapping of copy number changes. However, this limits the mapping of such imbalances to the resolution limit of metaphase chromosomes (usually 10 to 20 Mb). Efforts to increase this resolution have led to the "new"concept of genomic DNA chip (1 to 2 Mb), whereby the chromosomal target is replaced with cloned DNA immobilized on such as glass slides. The resulting resolution then depends on the size of the immobilized DNA fragments. We have completed the first draft of its Korean Genome Project. The project proceeded by end sequencing inserts from a library of 96,768 bacterial artificial chromosomes (BACs) containing genomic DNA fragments from Korean ethnicity. The sequenced BAC ends were then compared to the Human Genome Project′s publicly available sequence database and aligned according to known cancer gene sequences. These BAC clones were biotinylated by nick translation, hybridized to cytogenetic preparations of metaphase cells, and detected with fluorescein-conjugated avidin. Only locations of unique or low-copy Portions of the clone are identified, because high-copy interspersed repetitive sequences in the probe were suppressed by the addition of unlabelled Cotl DNA. Banding patterns were produced using DAPI. By this means, every BAC fragment has been matched to its appropriate chromosomal location. We have placed 86 (156 BAC clones) cytogenetically defined landmarks to help with the characterization of known cancer genes. Microarray techniques would be applied in CGH by replacement of metaphase chromosome to arrayed BAC confirming in oncogene and tumor suppressor gene: and an array BAC clones from the collection is used to perform a genome-wide scan for segmental aneuploidy by array-CGH. Therefore, the genomic DNA chip (arrayed BAC) will be undoubtedly provide accurate diagnosis of deletions, duplication, insertions and rearrangements of genomic material related to various human phenotypes, including neoplasias. And our tumor markers based on genetic abnormalities of cancer would be identified and contribute to the screening of the stage of cancers and/or hereditary diseases

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Chromosomal Assembly of Tegillarca granosa Genome using Third-generation DNA Sequencing and Hi-C Technology (3세대 DNA 염기서열 분석과 Hi-C기술을 이용한 꼬막 게놈의 유전체 연구)

  • Kim, Jinmu;Lee, Seung Jae;Jo, Euna;Choi, Eunkyung;Cho, Minjoo;Shin, So Ryung;Lee, Jung Sick;Park, Hyun
    • Journal of Marine Life Science
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    • v.6 no.2
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    • pp.97-105
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    • 2021
  • Tegillarca granosa, is one of the most important fishery resources throughout Asia. However, due to industrialization factories, marine environmental pollution, and global warming, the marine fishery production has drop sharply. In order to understand the genetic factors of the blood clam, which is a major fishery resource on the southern coast of Korea, the whole genome of blood clam was studied. The assembled genome of T. granosa was 915.4 Mb, and 19 chromosomes were identified. 25,134 genes were identified, and 22,745 genes were functionally annotated. As a result of performing gene gain and loss analysis between the blood clam genome and eight other types of shellfish, it was confirmed that 725 gene groups were expanded, and 479 gene groups were contracted. The homeobox gene cluster of blood clam showed a well-preserved genetic structure within lophotrochozoan ancestor. T. granosa genome showed high similarity between three hemoglobin genes with Scarpharca broughtonii. The blood clam genome will provide information for the genetic and physiological characteristics of blood clam adaptation, evolution, and the development of aquaculture industry.

Isolation and Identification of Fungi Associated with Decay of Quercus mongolica (신갈나무의 부후에 관여하는 곰팡이 분리 및 동정)

  • HAM, Youngseok;AN, Ji-Eun;LEE, Soo Min;CHUNG, Sang-Hoon;KIM, Sun Hee;PARK, Mi-Jin
    • Journal of the Korean Wood Science and Technology
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    • v.49 no.3
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    • pp.234-253
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    • 2021
  • The Quercus mongolica has a high utilization value in industrial economic sector. The species is distributed throughout Korea, however, the damage caused by deterioration such as discoloration and decay is severe. For this reason, the deterioration of Q. mongolica is an obstacle to its use as wood, but research on deterioration factors is insufficient. In this study, we focused on fungi as a factor influencing the deterioration of Q. mongolica, and isolated and identified the fungi from the deteriorated Q. mongolica. In additions, in order to confirm whether the identified fungi actually affects wood deterioration, enzyme activities of the identified fungi were evaluated and related mass loss of wood treated with the fungi was measured by wood decay test. As a result of sequencing analysis using the ITS region of the genomic DNA of the fungi isolated from Q. mongolica, Mucor circinelloides, Cunninghamella elegans, and Umbelopsis isabellina 3 species belonging to Mucoromycota phylum, and Ophiostoma piceae and Aureobasidium melanogenum 2 species belonging to Ascomycota phylum were identified. These five fungi had enzyme (i.e. cellulase, laccase) activities related to wood decay and reduced the mass of heartwood and sapwood of Q. mongolica in practice. In particular, O. piceae and A. melanogenum, which have both cellulase and laccase activities, showed 6.9% and 1.5% mass loss, respectively. These results indicated that five fungi identified in this study influence the deterioration of Q. mongolica and are wood decaying fungi for Q. mongolica potentially.