• Genomics & Informatics
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• 제12권4호
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• pp.136-144
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• 2014

Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases. Recent experimental findings have shed light on the links between different genome architectures and CNV mutagenesis. In this review, we summarize various genomic features and discuss their contributions to CNV formation. Genomic repeats, including both low-copy and high-copy repeats, play important roles in CNV instability, which was initially known as DNA recombination events. Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. Our review highlights that genome architecture, from DNA sequence to high-order genomic organization, is an important molecular factor in CNV mutagenesis and human genomic instability.

• Genomics & Informatics
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• 제17권1호
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• pp.4.1-4.7
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• 2019

In this paper, we propose a window-based mechanism visualization approach as an alternative way to measure the seriousness of the difference among data-insights extracted from a composite biodata point. The approach is based on two components: undirected graph and Mosaab-metric space. The significant application of this approach is to visualize the segmented genome of a virus. We use Influenza and Ebola viruses as examples to demonstrate the robustness of this approach and to conduct comparisons. This approach can provide researchers with deep insights about information structures extracted from a segmented genome as a composite biodata point, and consequently, to capture the segmented genetic variations and diversity (variants) in composite data points.

• Genomics & Informatics
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• 제12권1호
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• pp.42-47
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• 2014

Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies. Here, we identified ethnically specific variants and then investigated their distribution across Asian ethnic groups. We obtained 58,960 Pan-Asian single nucleotide polymorphisms of 1,953 individuals from 72 ethnic groups of 11 Asian countries. We selected 9,306 ethnic variant single nucleotide polymorphisms (ESNPs) and 5,167 ethnic variant copy number polymorphisms (ECNPs) using the nearest shrunken centroid method. We analyzed ESNPs and ECNPs in 3 hierarchical levels: superpopulation, subpopulation, and ethnic population. We also identified ESNP- and ECNP-related genes and their features. This study represents the first attempt to identify Asian ESNP and ECNP markers, which can be used to identify genetic differences and predict disease susceptibility and drug effectiveness in Asian ethnic populations.

• 소성∙가공
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• 제30권3호
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• pp.125-133
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• 2021

In this study, response surface method (RSM), back propagation neural network (BPNN), and genetic algorithm (GA) were used for modeling and multi-objective optimization of the parameters of AA5052-H32 in incremental sheet forming (ISF). The goal of optimization is to determine the maximum forming angle and minimum surface roughness, while varying the production process parameters, such as tool diameter, tool spindle speed, step depth, and tool feed rate. A Box-Behnken experimental design (BBD) was used to develop an RSM model and BPNN model to model the variations in the forming angle and surface roughness based on variations in process parameters. Subsequently, the RSM model was used as the fitness function for multi-objective optimization of the ISF process the GA. The results showed that RSM and BPNN can be effectively used to control the forming angle and surface roughness. The optimized Pareto front produced by the GA can be utilized as a rational design guide for practical applications of AA5052 in the ISF process

• 한국환경성돌연변이발암원학회지
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• 제23권1호
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• pp.7-10
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• 2003

Hypertension is characterized by multiple genetic and environmental factors. To establish the genetic basis of hypertension in Koreans, we investigated the genetic variations of dopamine D3 receptor (DRD3) gene in the Korean patients with hypertension and normotensive controls. There were no significant differences in the genotype and allele frequencies of Bal I RFLP in the DRD3 gene between two groups, respectively (P > 0.05). Our finding shows lack of association between a genetic marker of DRD3 gene and hypertension, suggesting that the genetic variation of DRD3 gene does not playa major role in the determination of hypertension in Korean population. Further studies in other ethnic groups will be required.

• Preventive Nutrition and Food Science
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• 제20권1호
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• pp.1-7
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• 2015

Obesity has become one of the major public health problems all over the world. Recent novel eras of research are opening for the effective management of obesity though gene and nutrient intake interactions because the causes of obesity are complex and multifactorial. Through GWASs (genome-wide association studies) and genetic variations (SNPs, single nucleotide polymorphisms), as the genetic factors are likely to determine individuals' obesity predisposition. The understanding of genetic approaches in nutritional sciences is referred as "nutrigenomics". Nutrigenomics explores the interaction between genetic factors and dietary nutrient intake on various disease phenotypes such as obesity. Therefore, this novel approach might suggest a solution for the effective prevention and treatment of obesity through individual genetic profiles and help improve health conditions.

• Journal of Species Research
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• 제1권1호
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• pp.100-103
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• 2012

Nutria Myocastor coypus is one of a well known invasive riparian mammal found species around world from North America to Eurasia and Africa. In South Korea, feral nutrias inhabit areas from the Nakdonggang and Namgang (River) to their tributaries and Upo Wetland where they have had devastating effects on environment. Nevertheless, there has been little research about nutrias in Korea. This study is to analyze the genetic structure of the nutria population in the Upo Wetland and identify the origin of the source populations. Twenty individuals from the Upo Wetland were genotyped using 25 microsatellite loci. When compared with another introduced population, that of the Blackwater Nation Wildlife Refuge in U.S., the Upo population contains considerable genetic variations. Tests for Hardy-Weinberg equilibrium and Bayesian clustering analysis suggest the Upo population is genetically structured and has at least two source populations. This preliminary study presents the need for further in-depth studies about this species which should combine genetic and ecological studies.

• Mycobiology
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• 제43권4호
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• pp.444-449
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• 2015

Arbuscular mycorrhizal fungi (AMF) are ubiquitous in the rhizosphere and form symbiotic relationships with most terrestrial plant roots. In this study, four strains of Rhizophagus clarus were cultured and variations in their growth characteristics owing to functional diversity and resultant effects on host plant were investigated. Growth characteristics of the studied R. clarus strains varied significantly, suggesting that AMF retain high genetic variability at the intraspecies level despite asexual lineage. Furthermore, host plant growth response to the R. clarus strains showed that genetic variability in AMF could cause significant differences in the growth of the host plant, which prefers particular genetic types of fungal strains. These results suggest that the intraspecific genetic diversity of AMF could be result of similar selective pressure and may be expressed at a functional level.

• ALGAE
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• 제33권3호
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• pp.205-214
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• 2018

Red algae in the genus Portieria produce secondary halogenated monoterpenes, which are effective deterrents against herbivores, as secondary metabolites. Portieria hornemannii samples from various sites contain different concentrations of these metabolites, suggesting the existence of genetic diversity and cryptic species. To evaluate the genetic diversity and species distribution of Portieria in the northwest Pacific, we analyzed rbcL sequences of samples collected from Korea, Japan, and Taiwan. The phylogenetic analysis revealed five distinct lineages at the species level. One was recognized as Portieria japonica and the others were cryptic lineages in P. hornemannii. The rbcL haplotypes of P. japonica were genetically fragmented into two subgroups of geographic origin; Korean and Japanese. The four cryptic lineages within P. hornemannii were also geographically structured at a much finer scale. These results suggest that different genetic lineages in Portieria evolved from variable microhabitats, consequently influencing secondary metabolites. Further study is required to resolve the relationships between genetic and secondary metabolite variations in Portieria.

• 한국발생생물학회지:발생과생식
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• 제17권4호
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• pp.363-367
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• 2013

PCR analysis generated on the genetic data showed that the geographic hairtail (Trichiurus lepturus) population from Korea in the Yellow Sea was more or less separated from geographic hairtail population from China in the South Sea. The average bandsharing value ($mean{\pm}SD$) within hairtail population from Korea showed $0.859{\pm}0.031$, whereas $0.752{\pm}0.039$ within population from China. Also, bandsharing values between two hairtail populations ranged from 0.470 to 0.611, with an average of $0.542{\pm}0.059$. As compared separately, the bandsharing values of individuals within hairtail population from Korea were comparatively higher than those of individuals within population from China. The hierarchical dendrogram resulted from reliable oligonucleotides primers, indicating two genetic clusters composed of cluster 1 (KOREANHAIR1~KOREANHAIR11) and cluster 2 (CHINESEHAI12~CHINESEHAI22). The genetic distances between two geographic populations ranged from 0.038 to 0.476. Individual No. 11 within hairtail population from Korea was genetically closely related with No. 10 (genetic distance=0.038). The longest genetic distance (0.476) displaying significant molecular difference was also between individual No. 01 within hairtail population from Korea and No. 22 from Chinese. In the present study, PCR analysis has revealed significant genetic distances between two hairtail population pairs (P<0.05).