• Title/Summary/Keyword: Human genome

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Next-Generation Sequencing and Epigenomics Research: A Hammer in Search of Nails

  • Sarda, Shrutii;Hannenhalli, Sridhar
    • Genomics & Informatics
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    • v.12 no.1
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    • pp.2-11
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    • 2014
  • After the initial enthusiasm of the human genome project, it became clear that without additional data pertaining to the epigenome, i.e., how the genome is marked at specific developmental periods, in different tissues, as well as across individuals and species-the promise of the genome sequencing project in understanding biology cannot be fulfilled. This realization prompted several large-scale efforts to map the epigenome, most notably the Encyclopedia of DNA Elements (ENCODE) project. While there is essentially a single genome in an individual, there are hundreds of epigenomes, corresponding to various types of epigenomic marks at different developmental times and in multiple tissue types. Unprecedented advances in next-generation sequencing (NGS) technologies, by virtue of low cost and high speeds that continue to improve at a rate beyond what is anticipated by Moore's law for computer hardware technologies, have revolutionized molecular biology and genetics research, and have in turn prompted innovative ways to reduce the problem of measuring cellular events involving DNA or RNA into a sequencing problem. In this article, we provide a brief overview of the epigenome, the various types of epigenomic data afforded by NGS, and some of the novel discoveries yielded by the epigenomics projects. We also provide ample references for the reader to get in-depth information on these topics.

Sustained Viral Activity of Epstein-Barr Virus Contributes to Cellular Immortalization of Lymphoblastoid Cell Lines

  • Jeon, Jae-Pil;Nam, Hye-Young;Shim, Sung-Mi;Han, Bok-Ghee
    • Molecules and Cells
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    • v.27 no.2
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    • pp.143-148
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    • 2009
  • EBV-transformed lymphoblastoid cell lines (LCLs) are used as a resource for human genetic, immunological, and pharmacogenomic studies. We investigated the biological activity of 20 LCL strains during continuous long-term subculture up to a passage number of 160. Out of 20 LCL strains, 17 proliferated up to a passage number of 160, at which point LCLs are generally considered as "immortalized". The other three LCL strains lost the ability to proliferate at an average passage number of 41, during which these LCLs may have undergone cellular crisis. These non-immortal LCL strains exhibited no telomerase activity, decreased EBV gene expression, and a lower copy number of the EBV genome and mitochondrial DNA when compared with immortal LCLs. Thus, this study suggests that sustained EBV viral activity as well as telomerase activity may be required for complete LCL immortalization.

Strategy Considerations in Genome Cohort Construction in Korea (한국 유전체 코호트 구축의 전략적 고려사항)

  • Sung, Joo-Hon;Cho, Sung-Il
    • Journal of Preventive Medicine and Public Health
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    • v.40 no.2
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    • pp.95-101
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    • 2007
  • Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and follow-up strategy of the cohort. Considering the epidemiologic characteristics of Korean population as well as strengths and drawbacks of current research environment, we tried to tailor the experience of other existing cohorts into proposals for this Korean study. Currently 100,000 individuals have been participating the new Genome Cohort in Korea. Target size of de novo collection is recommended to be set as between 300,000 to 500,000. This target size would allow acceptable power to detect genetic and environmental factors of moderate effect size and possible interactions between them. Family units and/or special subgroups are recommended to parallel main body of adult individuals to increase the overall efficiency of the study. Given that response rate to the conventional re-contact method may not be satisfactory, successful follow-up is the main key to the achievement of the Korean Genome Cohort. Access to the central database such as National Health Insurance data can provide enormous potential for near-complete case detection. Efforts to build consensus amongst scientists from broad fields and stakeholders are crucial to unleash the centralized database as well as to refine the commitment of this national project.

A Linguistic Approach to Communication Strategies of Biological Systems (생물체의 정보소통전략에 대한 언어학적 접근)

  • Kim, Soo-Yeon;Oh, Duk Jae
    • KSBB Journal
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    • v.32 no.1
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    • pp.29-34
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    • 2017
  • The completion of the Human Genome Project that identified all 3 billion base pairs in the human genome can be seen as a step towards understanding the relay of information and intention within an organism, or in other words, the language of life. The faculty of human language, key to differentiating humans from other animate species, works for conveying information to others by mapping meaning to sound based on syntactic structures. This resemblance between life and language has not gone unnoticed; the literature on RNA transcription and translation research regularly uses linguistic metaphors and the biolinguistic perspective of language has also been studied. By examining the biological characteristics of language and the linguistic characteristics of life, this study aims to identify key mechanisms shared between the two systems in order to promote a stronger connection between them. It furthers this goal by pointing out two general messages to which these mechanisms aim, productivity and accuracy, and discovers what lesson these messages give to a human society geared for sustainability.

Draft genome sequence of Fusobacterium animalis KCOM 1280 isolated from a human subgingival plaque of periodontitis lesion (사람 치주염 병소의 치은연하지면세균막에서 분리된 Fusobacterium animalis KCOM 1280의 유전체 염기서열 해독)

  • Park, Soon-Nang;Lim, Yun Kyong;Shin, Ja Young;Roh, Hanseong;Kook, Joong-Ki
    • Korean Journal of Microbiology
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    • v.54 no.2
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    • pp.146-148
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    • 2018
  • Fusobacterium animalis (formerly Fusobacterium nucleatum subsp. animalis) is a Gram-negative, anaerobic, and filament-shaped bacterium. F. animalis may be a part of normal flora and a periodontopathogen of human oral cavity. F. animalis KCOM 1280 (= ChDC F318) was isolated from a human periodontitis lesion. In this report, we present the draft genome sequence of F. animalis KCOM 1280.

Complete genome sequence of Cutibacterium acnes KCOM 1861 isolated from a human jaw osteomyelitis lesion (사람 악골 골수염에서 분리된 Cutibacterium acnes KCOM 1861의 유전체 염기서열 해독)

  • Park, Soon-Nang;Roh, Hanseong;Lim, Yun Kyong;Kook, Joong-Ki
    • Korean Journal of Microbiology
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    • v.53 no.2
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    • pp.126-128
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    • 2017
  • Cutibacterium acnes (formerly Propionibacterium acnes) is an anaerobic, Gram-positive rod and that is a normal flora of human skin and mucosal surface as well as an opportunistic pathogen related to acnes vulgaris, sarcoidosis, brain abscess, endocarditis, periodontitis, and endodontic infections. C. acnes KCOM 1861 (= ChDC B594) was isolated from a human jaw osteomyelitis lesion. Here, we present the complete genome sequence of C. acnes KCOM 1861.

Draft genome sequence of Streptococcus constellatus KCOM 1039 isolated from human postoperative maxillary cyst lesion (사람 수술후 상악낭종 병소에서 분리된 Streptococcus constellatus KCOM 1039의 유전체 염기서열 완전 해독)

  • Park, Soon-Nang;Lim, Yun Kyong;Hong, Seong-Chul;Shin, Ja Young;Roh, Hanseong;Kook, Joong-Ki
    • Korean Journal of Microbiology
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    • v.55 no.1
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    • pp.67-68
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    • 2019
  • Streptococcus constellatus is Gram-stain-positive, facultative anaerobic, and non-spore forming coccus. It is a member of normal flora of human oral cavity. S. constellatus KCOM 1039 was isolated from human postoperative maxillary cyst lesion. In this report, we present the draft genome sequence of S. constellatus KCOM 1039.

Post-GWAS Strategies

  • Kim, Sang-Soo;Bhak, Jong
    • Genomics & Informatics
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    • v.9 no.1
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    • pp.1-4
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    • 2011
  • Genome-wide association (GWA) studies are the method of choice for discovering loci associated with common diseases. More than a thousand GWA studies have reported successful identification of statistically significant association signals in human genomes for a variety of complex diseases. In this review, I discuss some of the issues related to the future of GWA studies and their biomedical applications.

Screening for Natural Bioactive Compounds Targeting the Intracellular Signal Transduction Pathway: Natural Products Modulating the Expression of the Interleukin-2 gene

  • Hakamatsuka, Takashi
    • Proceedings of the PSK Conference
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    • 2003.10a
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    • pp.60-61
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    • 2003
  • Human Genome Project has recently been completed and the information on nucleotide sequences of our whole genome is now available at the public or commercial data banks. Next goals are to identify the functions of each gene and to elucidate the intracellular signal transduction pathways regulating gene expression. We have established a PCR-based bioassay to search for biologically active compounds that can modulate the expression of genes encoding important proteins. (omitted)

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Transposable Elements: No More 'Junk DNA'

  • Kim, Yun-Ji;Lee, Jungnam;Han, Kyudong
    • Genomics & Informatics
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    • v.10 no.4
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    • pp.226-233
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    • 2012
  • Since the advent of whole-genome sequencing, transposable elements (TEs), just thought to be 'junk' DNA, have been noticed because of their numerous copies in various eukaryotic genomes. Many studies about TEs have been conducted to discover their functions in their host genomes. Based on the results of those studies, it has been generally accepted that they have a function to cause genomic and genetic variations. However, their infinite functions are not fully elucidated. Through various mechanisms, including de novo TE insertions, TE insertion-mediated deletions, and recombination events, they manipulate their host genomes. In this review, we focus on Alu, L1, human endogenous retrovirus, and short interspersed element/variable number of tandem repeats/Alu (SVA) elements and discuss how they have affected primate genomes, especially the human and chimpanzee genomes, since their divergence.