• Title/Summary/Keyword: Human genetics

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Current Understanding in Neurobiology of Depressive Disorders : Imaging Genetic Studies on Serotonin Transporter (우울장애의 신경생물학적 최신 지견 : 세로토닌 전달체에 대한 영상 유전학적 연구를 중심으로)

  • Ham, Byung-Joo
    • Korean Journal of Biological Psychiatry
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    • v.18 no.4
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    • pp.176-180
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    • 2011
  • Depressive disorders have strong genetic components. However, conventional linkage and association studies have not yielded definitive results. These might be due to the absence of objective diagnostic tests, the complex nature of human behavior or the incomplete penetrance of psychiatric traits. Imaging genetics explores the influences of genetic variation on the brain function or structure. This technique could provide a more sensitive assessment than traditional behavioral measures in psychiatric studies. Imaging genetics is a relatively new field of psychiatric researches, and may improve our understanding on neurobiology of psychiatric disorders. In this review, current understanding in neurobiology of depressive disorders, especially imaging genetic studies on serotonin transporter will be discussed.

Genomic Research as a Means to Understand Bacterial Phylogeny and Ecological Adaptation of the Genus Bifidobacterium (Bifidobacterium의 분자생물학적 연구 동향)

  • Kim, Geun-Bae
    • 한국유가공학회:학술대회논문집
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    • 2007.09a
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    • pp.21-29
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    • 2007
  • The field of microbiology has in recent years been transformed by huge increasing number of publicly available whole-genome sequences. This sequence information has significantly enhanced our understanding of the physiology, genetics, and evolutionary development of bacteria. Among the gastrointestinal microorganisms, bifidobacteria represent important human commensals because of their perceived contribution to maintaining a balanced gastrointestinal tract microbiota. In recent years bifidobacteria have drawn much scientific attention due to their use as live bacteria in numerous food products with various health-related claims. For this reason, these bacteria constitute a growing area of interest with respect to genomics, molecular biology, and genetics. Recent genome sequencing of a number of bifidobacterial species has allowed access to the complete genetic make-up of these bacteria. This review will focus how genomic data has allowed us to understand bifidobacterial evolution, while also revealing genetic functions that explains their presence in the particular ecological environment of the gastrointestinal tract.

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Genome-Wide Identification and Classification of MicroRNAs Derived from Repetitive Elements

  • Gim, Jeong-An;Ha, Hong-Seok;Ahn, Kung;Kim, Dae-Soo;Kim, Heui-Soo
    • Genomics & Informatics
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    • v.12 no.4
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    • pp.261-267
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    • 2014
  • MicroRNAs (miRNAs) are known for their role in mRNA silencing via interference pathways. Repetitive elements (REs) share several characteristics with endogenous precursor miRNAs. In this study, 406 previously identified and 1,494 novel RE-derived miRNAs were sorted from the GENCODE v.19 database using the RepeatMasker program. They were divided into six major types, based on their genomic structure. More novel RE-derived miRNAs were confirmed than identified as RE-derived miRNAs. In conclusion, many miRNAs have not yet been identified, most of which are derived from REs.

A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data

  • Wang, Shuoguo;Xing, Jinchuan
    • Genomics & Informatics
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    • v.11 no.4
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    • pp.191-199
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    • 2013
  • High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to discover variants that are different from the reference genome, and to prioritize/rank the variants for the question of interest. The recent development of many computational algorithms and programs has vastly improved the ability to translate sequence data into valuable information for disease gene identification. However, the NGS data analysis is complex and could be overwhelming for researchers who are not familiar with the process. Here, we outline the analysis pipeline and describe some of the most commonly used principles and tools for analyzing NGS data for disease gene identification.

A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

  • Lee, Juyeen;Kim, Won Duck;Kim, Hae Sook;Lee, Eun Kyung;Park, Hyung Doo
    • Journal of Genetic Medicine
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    • v.14 no.1
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    • pp.27-30
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    • 2017
  • Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

Understanding the Roles of Host Defense Peptides in Immune Modulation: From Antimicrobial Action to Potential as Adjuvants

  • Ju Kim;Byeol-Hee Cho;Yong-Suk Jang
    • Journal of Microbiology and Biotechnology
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    • v.33 no.3
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    • pp.288-298
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    • 2023
  • Host defense peptides are expressed in various immune cells, including phagocytic cells and epithelial cells. These peptides selectively alter innate immune pathways in response to infections by pathogens, such as bacteria, fungi, and viruses, and modify the subsequent adaptive immune environment. Consequently, they play a wide range of roles in both innate and adaptive immune responses. These peptides are of increasing importance due to their broad-spectrum antimicrobial activity and their functions as mediators linking innate and adaptive immune responses. This review focuses on the pleiotropic biological functions and related mechanisms of action of human host defense peptides and discusses their potential clinical applications.

Recent Insights into Cellular Crosstalk in Respiratory and Gastrointestinal Mucosal Immune Systems

  • Sae-Hae Kim;Yong-Suk Jang
    • IMMUNE NETWORK
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    • v.20 no.6
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    • pp.44.1-44.19
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    • 2020
  • The human body is continuously threatened by pathogens, and the immune system must maintain a balance between fighting infection and becoming over-activated. Mucosal surfaces cover several anatomically diverse organs throughout the body, such as the respiratory and gastrointestinal tracts, and are directly exposed to the external environment. Various pathogens invade the body through mucosal surfaces, making the mucosa the frontline of immune defense. The immune systems of various mucosal tissues display distinctive features that reflect the tissues' anatomical and functional characteristics. This review discusses the cellular components that constitute the respiratory and gastrointestinal tracts; in particular, it highlights the complex interactions between epithelial and immune cells to induce Ag-specific immune responses in the lung and gut. This information on mucosal immunity may facilitate understanding of the defense mechanisms against infectious agents that invade mucosal surfaces, such as severe acute respiratory syndrome coronavirus 2, and provide insight into effective vaccine development.

Isolation and Biological Properties of Novel Cell Cycle Inhibitor, HY558, Isolated from Penicillium minioluteum F558

  • Lee, Chul-Hoon;Lim, Hae-Young;Kim, Min-Kyoung;Cho, Youl-Hee;Oh, Deok-Kun;Kim, Chang-Jin;Lim, Yoon-Gho
    • Journal of Microbiology and Biotechnology
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    • v.12 no.3
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    • pp.470-475
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    • 2002
  • In the course of screening for a novel cell cycle inhibitor, a potent Cdk 1 inhibitor, HY558, was found from the culture broth of Penicillium minioluteum F558 isolated from a soil sample. The molecular ion of HY558 was identified at m/z 329 (MH+) with a molecular formula of $C_20H_44ON_2$. HY558 exhibited selective antiproliferative effects on various human cancer cell lines. Its $IC_50$ values were estimated to be 0.29 mM on HepG2, 0.30 mM on HeLa, 0.30 mM on HL6O, 0.33 mM on HT-29, and 0.25 mM on AGS cells. Interestingly, Hy558 demonstrated no antiproliferative effect with normal lymphocytes used as the control, and a low level of inhibition on the proliferation of A549 cancer cells. A flow cytometric analysis of HepG2 cells revealed an appreciable arrest of cells at the G1 and G2/M phases of the cell cycle following treatment with Hy558. furthermore, DNA fragmentation due to apoptosis was observed in HeLa cells treated with 0.46 mM of HY558.

Discovery of Cyclin-dependent Kinase Inhibitor, CR229, Using Structure-based Drug Screening

  • Kim, Min-Kyoung;Min, Jae-Ki;Choi, Bu-Young;Lim, Hae-Young;Cho, Youl-Hee;Lee, Chul-Hoon
    • Journal of Microbiology and Biotechnology
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    • v.17 no.10
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    • pp.1712-1716
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    • 2007
  • To generate new scaffold candidates as highly selective and potent cyelin-dependent kinase (CDK) inhibitors, structure-based drug screening was performed utilizing 3D pharmacophore conformations of known potent inhibitors. As a result, CR229 (6-bromo-2,3,4,9-tetrahydro-carbolin-1-one) was generated as the hit-compound. A computational docking study using the X-ray crystallographic structure of CDK2 in complex with CR229 was evaluated. This predicted binding mode study of CR229 with CDK2 demonstrated that CR229 interacted effectively with the Leu83 and Glu81 residues in the ATP-binding pocket of CDK2 for the possible hydrogen bond formation. Furthermore, biochemical studies on inhibitory effects of CR229 on various kinases in the human cervical cancer HeLa cells demonstrated that CR229 was a potent inhibitor of CDK2 ($IC_{50}:\;3\;{\mu}M$), CDKI ($IC_{50}:\;4.9\;{\mu}M$), and CDK4 ($IC_{50}:\;3\;{\mu}M$), yet had much less inhibitory effect ($IC_{50}:>20\;{\mu}M$) on other kinases, such as casein kinase 2-${\alpha}1$ (CK2-${\alpha}1$), protein kinase A (PKA), and protein kinase C (PKC). Accordingly, these data demonstrate that CR229 is a potent CDK inhibitor with anticancer efficacy.