• Title/Summary/Keyword: Human genetics

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Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population

  • Lim, Ji Eun;Oh, Bermseok
    • Genomics & Informatics
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    • v.11 no.2
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    • pp.93-96
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    • 2013
  • The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.

Molecular Identification of Adenocephalus pacificus (Cestoda) from Three Human Cases in Lima Province, Peru

  • Mondragon-Martinez, Aaron;Martinez-Rojas, Rosa;Garcia-Candela, Enrique;Delgado-Escalante, Abraham;Tantalean-Vidaurre, Manuel;Cruz-Neyra, Lidia
    • Parasites, Hosts and Diseases
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    • v.58 no.4
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    • pp.457-460
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    • 2020
  • The Pacific tapeworm Adenocephalus pacifcus (syn. Diphyllobothrium pacificum) is a causative agent of diphyllobothriosis occurred in Pacific coast of South America, mainly in Peru. Source of infections are traditional meal from raw or undercooked marine fish such as "cebiche". We confirmed 3 new cases, one including scolex and the other two headless. A strobila 46 cm long without scolex was discharged from an 8-year-old boy before treatment. Specimens were confirmed morphologically by presence of tegumental protuberances on proglottids and small sized eggs. Partial sequence of cytochrome c oxidase subunit 1 gene was congruent with A. pacificus sequences.

The Chronic Health Effects of Work-Related Stressors Experienced by Police Communications Workers

  • Perez, Rodolfo A.;Jetelina, Katelyn K.;Reingle Gonzalez, Jennifer M.
    • Safety and Health at Work
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    • v.12 no.3
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    • pp.365-369
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    • 2021
  • Background: Law enforcement communications (i.e., 911 dispatch and call takers) is a challenging and stressful occupation. The purpose of this study is to identify the main stressors associated with employment in law enforcement communications, and to identify and provide context to how these stressors affect workers' health and wellbeing. Methods: This research study included focus groups with 23 call takers and 911 dispatchers employed by a large, urban law enforcement agency in 2018. Thematic analyses were conducted to identify trends. Results: Four themes of stressors emerged (i.e., the high stakes nature of some 911 calls for service, understaffing, supervisor-related stress, and recruiting practice). Two health-related themes emerged as being occupation-related: weight gain and poor sleep patterns/insufficient sleep). Specifically, participants reported negative eating habits resulting in weight gain and obesity, lack of sleep and irregular sleep schedules, and development of hypertension and/or diabetes since beginning their jobs. Conclusion: Law enforcement communications professionals experience a number of the same stressors facing law enforcement officers in patrol. These stressors, combined with the sedentary nature of the job, could result in long-term, chronic health problems.

Improvement of Nitrogen Use Efficiency for Sustainable and Productive Agriculture (지속 가능한 농업생산성 증대를 위한 질소 이용 효율 향상)

  • Chang, Ancheol;Choi, Ji-Young;Park, Soon-Ki;Kim, Dong-Hern;Bae, Shin-Chul
    • Korean Journal of Breeding Science
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    • v.43 no.5
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    • pp.349-359
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    • 2011
  • Agriculture plays a vital role in the sustenance of human society and is the fundamental of developing economies. Nitrogen is one of the most critical inputs that define crop productivity. To ensure better value for investment as well as to minimize the adverse impacts of the accumulative nitrogen species in environment, improving nitrogen use efficiency of crop plants is of key importance. Efforts have been made to study the genetic and molecular biological basis as well as the biochemical mechanisms involved in nitrogen uptake, assimilation, translocation and remobilization in crops and model plants. This review gives an overview of metabolic, enzymatic, genetic and biotechnological aspects of nitrogen uptake, assimilation, remobilization and regulation. This review presents the complexity of nitrogen use efficiency and the need for an integrated approach combining physiology, quantitative trait genetics, system biology, soil science, ecophysiology and biotechnological interventions to improve nitrogen use efficiency.

Generation of Full-Length Infectious cDNA Clones of Middle East Respiratory Syndrome Coronavirus

  • Lee, Jeong Yoon;Bae, Sojung;Myoung, Jinjong
    • Journal of Microbiology and Biotechnology
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    • v.29 no.6
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    • pp.999-1007
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    • 2019
  • Middle East respiratory syndrome coronavirus (MERS-CoV) was first identified in Saudi Arabia in 2012 and related infection cases have been reported in over 20 countries. Roughly 10,000 human cases have so far been reported in total with fatality rates at up to 40%. The majority of cases have occurred in Saudi Arabia with mostly sporadic outbreaks outside the country except for the one in South Korea in 2015. The Korean MERS-CoV strain was isolated from the second Korean patient and its genome was fully sequenced and deposited. To develop virus-specific protective and therapeutic agents against the Korean isolate and to investigate molecular determinants of virus-host interactions, it is of paramount importance to generate its full-length cDNA. Here we report that two full-length cDNAs from a Korean patient-isolated MERS-CoV strain were generated by a combination of conventional cloning techniques and efficient Gibson assembly reactions. The full-length cDNAs were validated by restriction analysis and their sequence was verified by Sanger method. The resulting cDNA was efficiently transcribed in vitro and the T7 promoter-driven expression was robust. The resulting reverse genetic system will add to the published list of MERS-CoV cDNAs and facilitate the development of Korean isolate-specific antiviral measures.

Increased Hepatic Lipogenesis Elevates Liver Cholesterol Content

  • Berger, Jean-Mathieu;Moon, Young-Ah
    • Molecules and Cells
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    • v.44 no.2
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    • pp.116-125
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    • 2021
  • Cardiovascular diseases (CVDs) are the most common cause of death in patients with nonalcoholic fatty liver disease (NAFLD) and dyslipidemia is considered at least partially responsible for the increased CVD risk in NAFLD patients. The aim of the present study is to understand how hepatic de novo lipogenesis influences hepatic cholesterol content as well as its effects on the plasma lipid levels. Hepatic lipogenesis was induced in mice by feeding a fat-free/high-sucrose (FF/HS) diet and the metabolic pathways associated with cholesterol were then analyzed. Both liver triglyceride and cholesterol contents were significantly increased in mice fed an FF/HS diet. Activation of fatty acid synthesis driven by the activation of sterol regulatory element binding protein (SREBP)-1c resulted in the increased liver triglycerides. The augmented cholesterol content in the liver could not be explained by an increased cholesterol synthesis, which was decreased by the FF/HS diet. HMG-CoA reductase protein level was decreased in mice fed an FF/HS diet. We found that the liver retained more cholesterol through a reduced excretion of bile acids, a reduced fecal cholesterol excretion, and an increased cholesterol uptake from plasma lipoproteins. Very low-density lipoproteintriglyceride and -cholesterol secretion were increased in mice fed an FF/HS diet, which led to hypertriglyceridemia and hypercholesterolemia in Ldlr-/- mice, a model that exhibits a more human like lipoprotein profile. These findings suggest that dietary cholesterol intake and cholesterol synthesis rates cannot only explain the hypercholesterolemia associated with NAFLD, and that the control of fatty acid synthesis should be considered for the management of dyslipidemia.

Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach

  • Ray, Manisha;Rath, Surya Narayan;Sarkar, Saurav;Sable, Mukund Namdev
    • Genomics & Informatics
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    • v.20 no.1
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    • pp.5.1-5.10
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    • 2022
  • Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to ravel the genetic aetiology in NSHL progression and to screen out potential target genes using computational approaches. The reported NSHL target genes (2009-2020) have been studied by analyzing different biochemical and signaling pathways, interpretation of their functional association network, and discovery of important regulatory interactions with three previously established miRNAs in the human inner ear as well as in NSHL such as miR-183, miR-182, and miR-96. This study has identified SMAD4 and SNAI2 as the most putative target genes of NSHL. But pathogenic and deleterious non-synonymous single nucleotide polymorphisms discovered within SMAD4 is anticipated to have an impact on NSHL progression. Additionally, the identified deleterious variants in the functional domains of SMAD4 added a supportive clue for further study. Thus, the identified deleterious variant i.e., rs377767367 (G491V) in SMAD4 needs further clinical validation. The present outcomes would provide insights into the genetics of NSHL progression.

Kelps in Korea: from population structure to aquaculture to potential carbon sequestration

  • Hwang, Eun Kyoung;Boo, Ga Hun;Graf, Louis;Yarish, Charles;Yoon, Hwan Su;Kim, Jang Kyun
    • ALGAE
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    • v.37 no.2
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    • pp.85-103
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    • 2022
  • Korea is one of the most advanced countries in kelp aquaculture. The brown algae, Undaria pinnatifida and Saccharina japonica are major aquaculture species and have been principally utilized for human food and abalone feed in Korea. This review discusses the diversity, population structure and genomics of kelps. In addition, we have introduced new cultivar development efforts considering climate change, and potential carbon sequestration of kelp aquaculture in Korea. U. pinnatifida showed high diversity within the natural populations but reduced genetic diversity in cultivars. However, very few studies of S. japonica have been conducted in terms of population structure. Since studies on cultivar development began in early 2000s, five U. pinnatifida and one S. japonica varieties have been registered to the International Union for the Protection of New Varieties of Plants (UPOV). To meet the demands for seaweed biomass in various industries, more cultivars should be developed with specific traits to meet application demands. Additionally, cultivation technologies should be diversified, such as integrated multi-trophic aquaculture (IMTA) and offshore aquaculture, to achieve environmental and economic sustainability. These kelps are anticipated to be important sources of blue carbon in Korea.

Genetic Structure of the Jellyfish Rhopilema esculentum (Scyphozoa: Rhizostomatidae) in Korean Coastal Waters

  • Soo-Jung Chang;Jang-Seu Ki;Won-Duk Yoon;Ga-Eun Jun
    • Animal Systematics, Evolution and Diversity
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    • v.39 no.4
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    • pp.264-271
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    • 2023
  • The edible jellyfish Rhopilema esculentum occurs in waters throughout northeastern Asia, including in Korea, China, and Japan. In Korean waters, R. esculentum has appeared in two regions (Gangwha and Muan). Based on the appearance of young medusae and coastal distribution records, these two regions may be key R. esculentum breeding sites. In the present study, we investigate and compare the genetic structure of R. esculentum in the two regions using mitochondrial sequences (16S ribosomal RNA and cytochrome c oxidase subunit I). The genetic diversity of the R. esculentum population at Ganghwa exceeded that of the population at Muan. Despite considerable geographic separation (400 km) between the two regions(Gangwha and Muan), our haplotype network suggests that the Gangwha and Muan populations of R. esculentum are related. The simple and monotonous genetic structure of the Muan population shows that R. esculentum emergence is relatively recent. In contrast, the Gangwha population shows evolution. Moreover, jellyfish of the Gangwha population are genetically diverse and remain constant despite environmental fluctuations in the Han River. The Gangwha area is considered to be the old origin of R. esculentum in Korea.

The Role of Upper Airway Microbiome in the Development of Adult Asthma

  • Purevsuren Losol;Jun-Pyo Choi;Sae-Hoon Kim;Yoon-Seok Chang
    • IMMUNE NETWORK
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    • v.21 no.3
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    • pp.19.1-19.18
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    • 2021
  • Clinical and molecular phenotypes of asthma are complex. The main phenotypes of adult asthma are characterized by eosinophil and/or neutrophil cell dominant airway inflammation that represent distinct clinical features. Upper and lower airways constitute a unique system and their interaction shows functional complementarity. Although human upper airway contains various indigenous commensals and opportunistic pathogenic microbiome, imbalance of this interactions lead to pathogen overgrowth and increased inflammation and airway remodeling. Competition for epithelial cell attachment, different susceptibilities to host defense molecules and antimicrobial peptides, and the production of proinflammatory cytokine and pattern recognition receptors possibly determine the pattern of this inflammation. Exposure to environmental factors, including infection, air pollution, smoking is commonly associated with asthma comorbidity, severity, exacerbation and resistance to anti-microbial and steroid treatment, and these effects may also be modulated by host and microbial genetics. Administration of probiotic, antibiotic and corticosteroid treatment for asthma may modify the composition of resident microbiota and clinical features. This review summarizes the effect of some environmental factors on the upper respiratory microbiome, the interaction between host-microbiome, and potential impact of asthma treatment on the composition of the upper airway microbiome.