• Genomics & Informatics
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• v.6 no.3
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• pp.142-146
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• 2008

In order to understand the protein functions that are related to disease, it is important to detect the correlation between amino acid mutations and disease. Many mutation studies about disease-related proteins have been carried out through molecular biology techniques, such as vector design, protein engineering, and protein crystallization. However, experimental protein mutation studies are time-consuming, be it in vivo or in vitro. We therefore performed a bioinformatic analysis of known disease-related mutations and their protein structure changes in order to analyze the correlation between mutation and disease. For this study, we selected 111 diseases that were related to 175 proteins from the PDB database and 710 mutations that were found in the protein structures. The mutations were acquired from the Human Gene Mutation Database (HGMD). We selected point mutations, excluding only insertions or deletions, for detecting structural changes. To detect a structural change by mutation, we analyzed not only the structural properties (distance of pocket and mutation, pocket size, surface size, and stability), but also the physico-chemical properties (weight, instability, isoelectric point (IEP), and GRAVY score) for the 710 mutations. We detected that the distance between the pocket and disease-related mutation lay within $20\;{\AA}$ (98.5%, 700 proteins). We found that there was no significant correlation between structural stability and disease-causing mutations or between hydrophobicity changes and critical mutations. For large-scale mutational analysis of disease-causing mutations, our bioinformatics approach, using 710 structural mutations, called "Structural Mutatomics," can help researchers to detect disease-specific mutations and to understand the biological functions of disease-related proteins.

• Korean Journal of Plant Taxonomy
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• v.50 no.1
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• pp.8-16
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• 2020

Complete chloroplast genome sequences provide detailed information about any structural changes of the genome, instances of phylogenetic reconstruction, and molecular markers for fine-scale analyses. Recent developments of next-generation sequencing (NGS) tools have led to the rapid accumulation of genomic data, especially data pertaining to chloroplasts. Short reads deposited in public databases such as the Sequence Read Archive of the NCBI are open resources, and the corresponding chloroplast genomes are yet to be completed. The V. dilatatum complex in Korea consists of four morphologically similar species: V. dilatatum, V. erosum, V. japonicum, and V. wrightii. Previous molecular phylogenetic analyses based on several DNA regions did not resolve the relationship at the species level. In order to examine the level of variation of the chloroplast genome in the V. dilatatum complex, raw reads of V. dilatatum deposited in the NCBI database were used to reconstruct the whole chloroplast genome, with these results compared to the genomes of V. erosum, V. japonicum, and three other species in Viburnum. These comparative genomics results found no significant structural changes in Viburnum. The degree of interspecific variation among the species in the V. dilatatum complex is very low, suggesting that the species of the complex may have been differentiated recently. The species of the V. dilatatum complex share large unique deletions, providing evidence of close relationships among the species. A phylogenetic analysis of the entire genome of the Viburnum showed that V. dilatatum is a sister to one of two accessions of V. erosum, making V. erosum paraphyletic. Given that the overall degree of variation among the species in the V. dilatatum complex is low, the chloroplast genome may not provide a phylogenetic signal pertaining to relationships among the species.

• YAKHAK HOEJI
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• v.51 no.2
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• pp.108-114
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• 2007

The predominant Macrolides-Lincosamide-Streptogramin B (MLS$_B$) antibiotics resistance genes in staphylococci are erm(A) and erm(C). There is the phenomenon that the ratio of constitutively MLS$_B$ antibiotics resistance (cMLS) in erm(A) is much higher than in erm(C). Thus, we confirmed that the difference of the mutation ratio between erm(A) and erm(C) makes the phenomenon. We examined 8 staphylococci carrying inducibly expressed (iMLS) erm(A) or erm(C) genes. After overnight incubation in the presence of the non-inducer MLS$_B$ antibiotics, spontaneous mutants constitutively expressed MLS$_B$ resistance were selected. Against our expectation, the mutation ratio of erm(A) was lower than erm(C). Therefore, possibilities of other factors determining the ratio of cMLS phenotype might be concerned. All the mutants showed sequence alterations in translational attenuator and all the alterations seemed to give rise to change the second structure of mRNA to express constitutively. For erm(A), 4 different types of sequence deletions ranging from 72 bp to 122 bp and 3 different types of duplications ranging 24 bp to 93 bp were detected. Also, there were 9 different types of duplications ranging 15bp to 154bp in erm(C).

• The KIPS Transactions:PartA
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• v.12A no.2 s.92
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• pp.151-160
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• 2005

The exponential growth of Web users requires the web serves with high expandability and reliability. It leads to the excessive transmission traffic and system overload problems. To solve these problems, cluster systems are widely studied. In conventional cluster systems, when the request size is large owing to such types as multimedia and CGI, the particular server load and response time tend to increase even if the overall loads are distributed evenly. In this paper, a cluster system is proposed where each Web server in the system has different contents and loads are distributed efficiently using the Web server resource information such as CPU, memory and disk utilization. Web servers having different contents are mutually connected and managed with a network file system to maintain information consistency required to support resource information updates, deletions, and additions. Load unbalance among contents group owing to distribution of contents can be alleviated by reassignment of Web servers. Using a simulation method, we showed that our method shows up to $50\%$ about average throughput and processing time improvement comparing to systems using each LC method and RR method.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.12 no.7
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• pp.3227-3235
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• 2011

In this paper, a relational embedded DBMS was designed and a prototype 'Miracle' RDBMS (MDB) was developed. MDB is written in C and works on Unix, Linux and Windows platforms locally. It accesses database through SQL interfaces and API functions and uses $B^+$ tree index. It guarantees ACID in transactions and supports low concurrency control and processes SQL statements on a single table. To evaluate the performance of MDB on an ARM board EZ-S3C6410 and to compare the performance of MDB with that of SQLite, an experiment was carried out to estimate processing times for insertion, selection, update and deletion operations. The result shows that the average times for selections and insertions in MDB were 38.46% and 22.86% faster than those in SQLite, respectively, but the average times for updates and deletions in SQLite were 28.33% and 26.00% faster than MDB, respectively, This experiment shows that fetching data from database and sending data to database in MDB is faster than in SQLite, but $B^+$ tree index is implemented more effectively in SQlite than in MDB.

• Journal of KIISE:Databases
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• v.36 no.1
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• pp.1-7
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• 2009

Flash memory has its unique characteristics: i.e., (1) the write operation is much more costly than the read operation. (2) In-place updating is not allowed. In this paper, we first analyze how these characteristics affect the performance of record management in flash memory, and discuss the problems with previous methods for record management when they are applied to flash memory environment. Next, we propose a new record management method to be suitable for flash memory environment. The proposed method employs a new concept of a container that makes it possible to overwrite data on flash memory several times when performing insertions, deletions, and modifications of records. As a result, this method reduces the number of overwrite operations, and consequently does the number of erase operations. The results of experiments show that our method improves the performance by up to 34%, compared with the previous one.

• Korean Journal of Veterinary Service
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• v.39 no.4
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• pp.259-266
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• 2016

Porcine epidemic diarrhea virus (PEDV) causes an acute and lethal watery diarrhea in piglets that is great economic losses to the swine country worldwide. The spike (S) glycoprotein is an important determinant for PEDV biological properties. In the present study, we determined the full-length S gene sequences of five Chung-nam PEDV field isolates collected in 2016. The S gene was amplified by RT-PCR, purificated, sequenced, analyzed and then compared with published sequences of other PEDV strains. 5 field strains share 98.5%~99.9% homologies with each other at the nucleotide sequence level and 96.7%~99.9% homologies with each other at the amino acids sequence level. Most field strains have nucleotide insertions, deletions and mutation regions, and show lower homologies (93.1~93.8%) with classical and vaccine strains, however higher homologies (99.1%~99.5%) with US PEDV isolates in 2013. By phylogenetic tree analysis based on nucleotide sequence, five PEDV field isolates were clustered into Genogroup 2b but differ genetically from the vaccine strains (SM-98 and DR-13).

• Journal of Life Science
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• v.23 no.11
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• pp.1305-1310
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• 2013

Dill (Anethum graveolens L.) is an annual herb with a long history and it is mainly used as a spice and as a medicine that is effective as a digestive aid, a sedative, and a narcotic, and that helps remove bad breath. Dill grows wild in the districts along the shores of the Mediterranean Sea, West Asia, China, and Korea. An estimate of the phylogenetic relationships within dill accessions in 20 countries was inferred using data from the rps16-trnK3-intergenic spacer. The aligned data sets for dill ranged from 747 to 779 nucleotides (bp) as a result of the differences in the insert/delete nucleotides. The sequence variation within the dill accessions was mostly due to nucleotide substitutions, although several small insertions and deletions can be found. Among 100 accessions from 20 countries, the Eastern Asia accessions were more closely related to the North American accessions than to the Central Asia and European accessions. Although some accessions were not congruent completely with geographical locations, the dill accessions with rps16-trnK analysis resulted in plants with better-resolved clades.

• Journal of Genetic Medicine
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• v.11 no.2
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• pp.79-82
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• 2014

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.27-33
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• 2020

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.