• 제목/요약/키워드: Human Genome

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소금민감성유전자와 비만 (Salt-sensitive genes and their relation to obesity)

  • 전용필;이명숙
    • Journal of Nutrition and Health
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    • 제50권3호
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    • pp.217-224
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    • 2017
  • Purpose: Although it is well known thatmortality and morbidity due to cardiovascular diseases are higher in salt-sensitive subjects than in salt-resistant subjects, their underlying mechanisms related to obesity remain unclear. Here, we focused on salt-sensitive gene variants unrelated to monogenic obesity that interacted with sodium intake in humans. Methods: This review was written based on the modified $3^rd$ step of Khans' systematic review. Instead of the literature, subject genes were based on candidate genes screened from our preliminary Genome-Wide Association Study (GWAS). Finally, literature related to five genes strongly associated with salt sensitivity were analyzed to elucidate the mechanism of obesity. Results: Salt sensitivity is a measure of how blood pressure responds to salt intake, and people are either salt-sensitive or salt-resistant. Otherwise, dietary sodium restriction may not be beneficial for everyone since salt sensitivity may be associated with inherited susceptibility. According to our previous GWAS studies, 10 candidate genes and 11 single nucleotide polymorphisms (SNPs) associated with salt sensitivity were suggested, including angiotensin converting enzyme (ACE), ${\alpha}$-adducin1 (ADD1), angiotensinogen (AGT), cytochrome P450 family 11-subfamily ${\beta}$-2 ($CYP11{\beta}$-2), epithelial sodium channel (ENaC), G-protein b3 subunit (GNB3), G protein-coupled receptor kinases type 4 (GRK4 A142V, GRK4 A486V), $11{\beta}$-hydroxysteroid dehydrogenase type-2 (HSD $11{\beta}$-2), neural precursor cell-expressed developmentally down regulated 4 like (NEDD4L),and solute carrier family 12(sodium/chloride transporters)-member 3 (SLC 12A3). We found that polymorphisms of salt-sensitive genes such as ACE, $CYP11{\beta}$-2, GRK4, SLC12A3, and GNB3 may be positively associated with human obesity. Conclusion: Despite gender, ethnic, and age differences in genetics studies, hypertensive obese children and adults who are carriers of specific salt-sensitive genes are recommended to reduce their sodium intake. We believe that our findings can contribute to the prevention of early-onset of chronic diseases in obese children by facilitating personalized diet-management of obesity from childhood to adulthood.

Development of a multiplex PCR method for identification of four genetically modified maize lines and its application in living modified organism identification

  • Park, Jin Ho;Seol, Min-A;Eum, Soon-Jae;Kim, Il Ryong;Lim, Hye Song;Lee, Jung Ro;Choi, Wonkyun
    • Journal of Plant Biotechnology
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    • 제47권4호
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    • pp.309-315
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    • 2020
  • Advances in biotechnology have led to progress in crop genetic engineering to improve agricultural productivity. The use of genetically modified (GM) crops has increased, as have consumers' and regulators' concerns about the safety of GM crops to human health, and ecological biodiversity. As such, the identification of GM crops is a critical issue for developers and distributors, and their labeling is mandatory. Multiplex polymerase chain reaction (PCR) has been developed and its use validated for the detection and identification of GM crops in quarantine. Herein, we established a simultaneous detection method to identify four GM maize events. Event-specific primers were designed between the junction region of transgene and genome of four GM maize lines, namely 5307, DAS-40278-9, MON87460, and MON87427. To verify the efficiency and accuracy of the multiplex PCR we used specificity analysis, limit of detection evaluation, and mixed certified reference materials identification. The multiplex PCR method was applied to analyze 29 living, modified maize volunteers collected in South Korea in 2018 and 2019. We performed multiplex PCR analysis to identify events and confirmed the result by simplex PCR using each event-specific primer. As a result, rather than detecting each event individually, the simultaneous detection PCR method enabled the rapid analysis of 29 GM maize volunteers. Thus, the novel multiplex PCR method is applicable for living modified organism volunteer identification.

Noodle consumption is positively associated with incident hypertension in middle-aged and older Korean women

  • Kim, Jiwon;Kim, Jihye;Kang, Yunhee
    • Nutrition Research and Practice
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    • 제13권2호
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    • pp.141-149
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    • 2019
  • BACKGROUND/OBJECTIVES: This study examined the association between refined grain consumption by subtype and the incidence of hypertension from the Korean Genome and Epidemiology Study data. SUBJECTS/METHODS: In total, 5,018 participants (2,439 men and 2,579 women) from 40 to 69 years without hypertension were recruited at the beginning (2001-2002). Blood pressure and antihypertensive medication use were assessed biennially for the incidence of hypertension during the 8-year follow-up period (2009-2010). Hypertension was diagnosed as systolic blood pressure ${\geq}140mmHg$ or diastolic blood pressure ${\geq}90mmHg$ or antihypertensive medication use. Dietary intake including refined grains was assessed by a food frequency questionnaire at baseline and the follow-up (2005-2006). A multivariate Cox proportional hazard model was used to examine hazard ratios (HRs) and 95% confidence intervals (CIs) for incident hypertension according to refined-grain consumption. RESULTS: A total of 1,377 cases of hypertension (710 men and 667 women) were newly ascertained. Frequent noodle consumers (${\geq}5servings/week$) among the women had a 2.3-fold higher risk of hypertension than infrequent noodle consumers after adjustment for potential confounders (HR = 2.31, 95% CI = 1.33-4.01, P for trend = 0.0001). However, no significant association was found among the men. The intake of other refined grain products such as white rice and breads was not associated with the incidence of hypertension. CONCLUSION: Frequent noodle consumption was positively associated with a risk of incident hypertension in South Korean women.

Comparative Genomics Approaches to Understanding Virulence and Antimicrobial Resistance of Salmonella Typhimurium ST1539 Isolated from a Poultry Slaughterhouse in Korea

  • Kim, Eunsuk;Park, Soyeon;Cho, Seongbeom;Hahn, Tae-Wook;Yoon, Hyunjin
    • Journal of Microbiology and Biotechnology
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    • 제29권6호
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    • pp.962-972
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    • 2019
  • Non-typhoidal Salmonella (NTS) is one of the most frequent causes of bacterial foodborne illnesses. Considering that the main reservoir of NTS is the intestinal tract of livestock, foods of animal origin are regarded as the main vehicles of Salmonella infection. In particular, poultry colonized with Salmonella Typhimurium (S. Typhimurium), a dominant serotype responsible for human infections, do not exhibit overt signs and symptoms, thereby posing a potential health risk to humans. In this study, comparative genomics approaches were applied to two S. Typhimurium strains, ST1539 and ST1120, isolated from a duck slaughterhouse and a pig farm, respectively, to characterize their virulence and antimicrobial resistance-associated genomic determinants. ST1539 containing a chromosome (4,905,039 bp; 4,403 CDSs) and a plasmid (93,876 bp; 96 CDSs) was phylogenetically distinct from other S. Typhimurium strains such as ST1120 and LT2. Compared to the ST1120 genome (previously deposited in GenBank; CP021909.1 and CP021910.1), ST1539 possesses more virulence determinants, including ST64B prophage, plasmid spv operon encoding virulence factors, genes encoding SseJ effector, Rck invasin, and biofilm-forming factors (bcf operon and pefAB). In accordance with the in silico prediction, ST1539 exhibited higher cytotoxicity against epithelial cells, better survival inside macrophage cells, and faster mice-killing activity than ST1120. However, ST1539 showed less resistance against antibiotics than ST1120, which may be attributed to the multiple resistanceassociated genes in the ST1120 chromosome. The accumulation of comparative genomics data on S. Typhimurium isolates from livestock would enrich our understanding of strategies Salmonella employs to adapt to diverse host animals.

Antifungal Mechanism of Action of Lauryl Betaine Against Skin-Associated Fungus Malassezia restricta

  • Do, Eunsoo;Lee, Hyun Gee;Park, Minji;Cho, Yong-Joon;Kim, Dong Hyeun;Park, Se-Ho;Eun, Daekyung;Park, Taehun;An, Susun;Jung, Won Hee
    • Mycobiology
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    • 제47권2호
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    • pp.242-249
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    • 2019
  • Betaine derivatives are considered major ingredients of shampoos and are commonly used as antistatic and viscosity-increasing agents. Several studies have also suggested that betaine derivatives can be used as antimicrobial agents. However, the antifungal activity and mechanism of action of betaine derivatives have not yet been fully understood. In this study, we investigated the antifungal activity of six betaine derivatives against Malassezia restricta, which is the most frequently isolated fungus from the human skin and is implicated in the development of dandruff. We found that, among the six betaine derivatives, lauryl betaine showed the most potent antifungal activity. The mechanism of action of lauryl betaine was studied mainly using another phylogenetically close model fungal organism, Cryptococcus neoformans, because of a lack of available genetic manipulation and functional genomics tools for M. restricta. Our genome-wide reverse genetic screening method using the C. neoformans gene deletion mutant library showed that the mutants with mutations in genes for cell membrane synthesis and integrity, particularly ergosterol synthesis, are highly sensitive to lauryl betaine. Furthermore, transcriptome changes in both C. neoformans and M. restricta cells grown in the presence of lauryl betaine were analyzed and the results indicated that the compound mainly affected cell membrane synthesis, particularly ergosterol synthesis. Overall, our data demonstrated that lauryl betaine influences ergosterol synthesis in C. neoformans and that the compound exerts a similar mechanism of action on M. restricta.

Technical requirements for cultured meat production: a review

  • Ramani, Sivasubramanian;Ko, Deunsol;Kim, Bosung;Cho, Changjun;Kim, Woosang;Jo, Cheorun;Lee, Chang-Kyu;Kang, Jungsun;Hur, Sunjin;Park, Sungkwon
    • Journal of Animal Science and Technology
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    • 제63권4호
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    • pp.681-692
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    • 2021
  • Environment, food, and disease have a selective force on the present and future as well as our genome. Adaptation of livestock and the environmental nexus, including forest encroachment for anthropological needs, has been proven to cause emerging infectious diseases. Further, these demand changes in meat production and market systems. Meat is a reliable source of protein, with a majority of the world population consumes meat. To meet the increasing demands of meat production as well as address issues, such as current environmental pollution, animal welfare, and outbreaks, cellular agriculture has emerged as one of the next industrial revolutions. Lab grown meat or cell cultured meat is a promising way to pursue this; however, it still needs to resemble traditional meat and be assured safety for human consumption. Further, to mimic the palatability of traditional meat, the process of cultured meat production starts from skeletal muscle progenitor cells isolated from animals that proliferate and differentiate into skeletal muscle using cell culture techniques. Due to several lacunae in the current approaches, production of muscle replicas is not possible yet. Our review shows that constant research in this field will resolve the existing constraints and enable successful cultured meat production in the near future. Therefore, production of cultured meat is a better solution that looks after environmental issues, spread of outbreaks, antibiotic resistance through the zoonotic spread, food and economic crises.

Analysis of gene expression profiles to study malaria vaccine dose efficacy and immune response modulation

  • Dey, Supantha;Kaur, Harpreet;Mazumder, Mohit;Brodsky, Elia
    • Genomics & Informatics
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    • 제20권3호
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    • pp.32.1-32.15
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    • 2022
  • Malaria is a life-threatening disease, and Africa is still one of the most affected endemic regions despite years of policy to limit infection and transmission rates. Further, studies into the variable efficacy of the vaccine are needed to provide a better understanding of protective immunity. Thus, the current study is designed to delineate the effect of each dose of vaccine on the transcriptional profiles of subjects to determine its efficacy and understand the molecular mechanisms underlying the protection this vaccine provides. Here, we used gene expression profiles of pre and post-vaccination patients after various doses of RTS,S based on samples collected from the Gene Expression Omnibus datasets. Subsequently, differential gene expression analysis using edgeR revealed the significantly (false discovery rate < 0.005) 158 downregulated and 61 upregulated genes between control vs. controlled human malaria infection samples. Further, enrichment analysis of significant genes delineated the involvement of CCL8, CXCL10, CXCL11, XCR1, CSF3, IFNB1, IFNE, IL12B, IL22, IL6, IL27, etc., genes which found to be upregulated after earlier doses but downregulated after the 3rd dose in cytokine-chemokine pathways. Notably, we identified 13 cytokine genes whose expression significantly varied during three doses. Eventually, these findings give insight into the dual role of cytokine responses in malaria pathogenesis. The variations in their expression patterns after various doses of vaccination are linked to the protection as it decreases the severe inflammatory effects in malaria patients. This study will be helpful in designing a better vaccine against malaria and understanding the functions of cytokine response as well.

Two novel mutations in ALDH18A1 and SPG11 genes found by whole-exome sequencing in spastic paraplegia disease patients in Iran

  • Komachali, Sajad Rafiee;Siahpoosh, Zakieh;Salehi, Mansoor
    • Genomics & Informatics
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    • 제20권3호
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    • pp.30.1-30.9
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    • 2022
  • Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

Development of reverse transcription loop-mediated isothermal amplification assays for point-of-care testing of avian influenza virus subtype H5 and H9

  • Zhang, Songzi;Shin, Juyoun;Shin, Sun;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제18권4호
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    • pp.40.1-40.8
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    • 2020
  • Avian influenza (AIV) outbreaks can induce fatal human pulmonary infections in addition to economic losses to the poultry industry. In this study, we aimed to develop a rapid and sensitive point-of-care AIV test using loop-mediated isothermal amplification (LAMP) technology. We designed three sets of reverse transcription LAMP (RT-LAMP) primers targeting the matrix (M) and hemagglutinin (HA) genes of the H5 and H9 subtypes. RT-LAMP targeting the universal M gene was designed to screen for the presence of AIV and RT-LAMP assays targeting H5-HA and H9-HA were designed to discriminate between the H5 and H9 subtypes. All three RT-LAMP assays showed specific amplification results without nonspecific reactions. In terms of sensitivity, the detection limits of our RT-LAMP assays were 100 to 1,000 RNA copies per reaction, which were 10 times more sensitive than the detection limits of the reference reverse-transcription polymerase chain reaction (RT-PCR) (1,000 to 10,000 RNA copies per reaction). The reaction time of our RT-LAMP assays was less than 30 min, which was approximately four times quicker than that of conventional RT-PCR. Altogether, these assays successfully detected the existence of AIV and discriminated between the H5 or H9 subtypes with higher sensitivity and less time than the conventional RT-PCR assay.

Genetic diversity of the H5N1 viruses in live bird markets, Indonesia

  • Dharmayanti, Ni Luh Putu Indi;Hewajuli, Dyah Ayu;Ratnawati, Atik;Hartawan, Risza
    • Journal of Veterinary Science
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    • 제21권4호
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    • pp.56.1-56.13
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    • 2020
  • Background: The live bird market (LBM) plays an important role in the dynamic evolution of the avian influenza H5N1 virus. Objectives: The main objective of this study was to monitor the genetic diversity of the H5N1 viruses in LBMs in Indonesia. Methods: Therefore, the disease surveillance was conducted in the area of Banten, West Java, Central Java, East Java, and Jakarta Province, Indonesia from 2014 to 2019. Subsequently, the genetic characterization of the H5N1 viruses was performed by sequencing all 8 segments of the viral genome. Results: As a result, the H5N1 viruses were detected in most of LBMs in both bird' cloacal and environmental samples, in which about 35% of all samples were positive for influenza A and, subsequently, about 52% of these samples were positive for H5 subtyping. Based on the genetic analyses of 14 viruses isolated from LBMs, genetic diversities of the H5N1 viruses were identified including clades 2.1.3 and 2.3.2 as typical predominant groups as well as reassortant viruses between these 2 clades. Conclusions: As a consequence, zoonotic transmission to humans in the market could be occurred from the exposure of infected birds and/or contaminated environments. Moreover, new virus variants could emerge from the LBM environment. Therefore, improving pandemic preparedness raised great concerns related to the zoonotic aspect of new influenza variants because of its high adaptivity and efficiency for human infection.