• Tuberculosis and Respiratory Diseases
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• v.48 no.2
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• pp.155-165
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• 2000

Background: The phagolysosomal function of alveolar macrophage against M. tuberculosis infection is influenced by Nramp1, which is encoded by the NRAMP1 gene. There are several genetic polymorphisms in NRAMP1, and these polymorphisms affect the innate host resistance through the defect in production and function of Nramp1. To investigate this relationship, the NRAMP1 genetic polymorphism in patients with primary tuberculous pleurisy was determined. Methods: Fifty-six primary tuberculous pleurisy patient, who were diagnosed by pleural biopsy, were designated to the pleurisy group and 45 healthy adults were designated to the healthy control group. Three genetic polymorphisms of NRAMP1, such as a single point mutation in intron 4(469+14G/C, INT4), a nonconservative single-base substitution at codon 543 that changes aspartic acid to asparagine(D543N) and a TGTG deletion in the 3' untranslated region(1729+55delI4, 3'UTR), were determined. Polymerase chain reaction(PCR) and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) were used. Results: The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in pleurisy group(p=0.001, p=0.023). But the frequencies of D543N were not significantly different between the two groups(p=0.079). The odds ratios, which are a comparison with wild genotype for determining mutant genotypes, were 8. 022(95% confidence interval=2.422-26.572) for INT4 and 5.733(95% confidence interval = 1.137~28.916) for 3'UTR ; these were statistically significant But the ratio for D543N was not significant In the combined analysis of the INT4 and 3'UTR polymorphisms, the odds ratios were 6.000(95% confidence interval = 1.461~24.640) for GC/++ genotype and 14.000(95% confidence interval=1.610~121.754) for GC/+del when compared with GG/++ homozygotes ; these were statistically significant. Conclusion: Among the NRAMP1 genetic polymorphisms, a single point mutation in intron 4(469+14G/C, INT4) and a TGTG deletion in the 3' untranslated region(1729+55del4, 3'UTR) were closely related to the primary tuberculous pleurisy.

• Journal of Life Science
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• v.19 no.4
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• pp.549-552
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• 2009

Genetic mutations by gene fusion result from chromosomal rearrangement, trans-splicing, and intergenic splicing. Trans-splicing is a phenomenon in which two pre-mRNAs grow together into one. We analyzed the trans-splicing products in embryonic stem cells. By using bioinformatic tools, 70 trans-splicing transcripts were identified. They are classified into 6 types according to fusion pattern: 5'UTR-5'UTR, 5'UTR-3'UTR, 3'UTR-3'UTR, 5'UTR-CDS, 3'UTR-CDS, CDS-CDS. The fusion products are more abundant in CDS regions than in UTR regions, which contain multiple intron numbers. Chromosome analysis showing gene fusion via trans-splicing indicated that chromosomes 17 and 19 were activated. These data are of great use for further studies in relation to fusion genes and human diseases.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.69-76
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• 2017

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene on chromosome 7q21.3, and a type of urea cycle disorder that causes hyperammonemia. Although neonatal intrahepatic cholestasis and adult-onset type II citrullinemia, a type of citrin deficiency, have been described well in many articles for several decades, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), the other type of citrin deficiency, has been only identified recently. There was previously no case report about FTTDCD in Korea. Patients with FTTDCD could present with loss of appetite, fatigue, failure to thrive, hypoglycemia, hypercitrullinemia, dyslipidemia, and an increased lactate/pyruvate ratio. Routine evaluation may not reveal the cause of hypoglycemia caused by citrin deficiency. We recently had a case that presented with recurrent hypoglycemia in a 30-month-old boy. Chemistry profiling, urine organic acid analysis, plasma acylcarnitine analysis, and hormone studies indicated values within the normal range or non-specific findings. Mutation analysis to identify the cause of hypoglycemia identified the subject as a compound heterozygote carrying each of the c.852_855del ($p.Met285Profs^*2$), and c.1177+1G>A mutant alleles. We report here on this unusual case of citrin deficiency presenting with FTTDCD for the first time in Korea.

• Journal of Microbiology and Biotechnology
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• v.28 no.11
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• pp.1916-1927
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• 2018

Corynebacterium glutamicum is an excellent platform for the production of amino acids, and is widely used in the fermentation industry. Most industrial strains are traditionally obtained by repeated processes of random mutation and selection, but the genotype of these strains is often unclear owing to the absence of genomic information. As such, it is difficult to improve the growth and amino acid production of these strains via metabolic engineering. In this study, we generated a complete genome map of an industrial L-valine-producing strain, C. glutamicum XV. In order to establish the relationship between genotypes and physiological characteristics, a comparative genomic analysis was performed to explore the core genome, structural variations, and gene mutations referring to an industrial L-leucine-producing strain, C. glutamicum CP, and the widely used C. glutamicum ATCC 13032. The results indicate that a 36,349 bp repeat sequence in the CP genome contained an additional copy each of lrp and brnFE genes, which benefited the export of L-leucine. However, in XV, the kgd and panB genes were disrupted by nucleotide insertion, which increase the availability of precursors to synthesize L-valine. Moreover, the specific amino acid substitutions in key enzymes increased their activities. Additionally, a novel strategy is proposed to remodel central carbon metabolism and reduce pyruvate consumption without having a negative impact on cell growth by introducing the CP-derived mutant $H^+$/citrate symporter. These results further our understanding regarding the metabolic networks in these strains and help to elucidate the influence of different genotypes on these processes.

• Journal of Aquaculture
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• v.11 no.3
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• pp.353-361
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• 1998

Genetic analysis of body pigmentation pattern has been conducted by the reciprocal monohybrid and back crosses using the wild type zebrafish, Danio rerio, and its aquarium morphs (mutants), leopard danio. Also, the effect fo pigmentation mutation was investigated with regard to the survival rates of eggs and larvae for the first 15 days after fertilization. As a result, the pattern pigment distribution was inherited by a single gene having two alleles, and which was basically followed by the principle of dominace and segregaion in Mendelian inheritance. A locus for pigment pattern turned out to be located on an autosomal chromosome. Average survival rates estimated from the various crosses between, and within, wild type zebrafish and leopard danio were as follows ; they were 80.6${\pm}$4.8% from the crosses within leopard danios ($L{\times}L$), 70.6${\pm}$4.2% between leopard female and wild type male ($L{\times}Z$), 73.2${\pm}$2.0% between wild type female and leopard male ($Z{\times}L$), and 83.8${\pm}$6.7% within wild type zebrafish ($Z{\times}Z$). These results indicated that the leopard danio, which were reported as an "aquarium morph" several decades ago and also known as a mutant in pigmentation pattern of the wild type zebrafish, seemed to be genetically stable like the wild type of zebrafish.zebrafish.

• Journal of Life Science
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• v.23 no.1
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• pp.24-30
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• 2013

The purpose of this study was to identify genetic polymorphisms of the mitochondrial cytochrome b (mtDNA cyt b) gene in Korean black (KB) cattle breed and to analyze the genetic relationship between the KB and other breeds. We determined the complete sequence of the mtDNA cyt b gene in 38 KB cattle. We also analyzed their genetic diversity, and phylogenetic analysis was performed by comparison with Korean cattle (KC, called Hanwoo) and breeds from China and Japan. A nucleotide substitution was detected in the KB cattle, and two haplotypes were defined. In the neighbor-joining (NJ) tree, the haplotypes of KB were located in Bos taurus lineage with those of KC, Japanese black (JB), Yanbian and Zaosheng breeds. However, the haplotypes of Chinese breeds, excluding Yanbian and Zaosheng, were separated into B. taurus and B. indicus lineages. In the NJ tree of breeds based on Dxy genetic distances, Chinese breeds mixed with B. taurus and B. indicus lineages were located between B. indicus and B. taurus lineages. KB was contained within B. taurus lineage and was determined to be genetically more closely related to two Chinese (Yanbian and Zaosheng) breeds than to KC and JB. The haplotype distribution and the results of the phylogenetic analysis suggest that KB and KC have genetic differences in their mtDNA cyt b gene sequences.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.33 no.1
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• pp.46-54
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• 2007

PURPOSE Osteosarcoma occurring in the head and neck region is known as a malignant tumor that shows a relatively poor prognosis and, despite various treatments, clinicians have often been confounded by it. The existence or non-existence of the mutation of the gene $p16^{INK4a}$ has been used in prognosis assessment. In this study, author have attempted to determine whether methylation of the gene $p16^{INK4a}$ could be applied to forecast the progress of osteosarcomas in the head and neck region having been given poor prognoses in the diagnostic process and the early stage of treatment. RESEARCH SUBJECT AND METHOD Clinicopathologic investigations, immunohistochemical examinations, a methylation specific polymerase reaction (MSP) analysis, and a survival analysis were conducted on the tissues of 20 patients with mandibulofacial osteosarcoma. RESULTS Neither age, sex, size, smoking or non-smoking, nor region have showed a statistical significance with methylation or unmethylation of the gene $p16^{INK4a}$ and expression rates demonstrated by immunohisto- chemical examinations. A chi-square test indicated that recurrence inclination has no relation with the expression rate of p16 protein (p=0.6615), but it showed a statistical significance with methylation of the gene $p16^{INK4a}$ (p=0.0033). With respect to investigations of the survival rates, a Kaplan-Meier survival analysis found that the manifestation rate of p16 protein did not have an impact on survival (p=0.8864), but that the methylation of the gene $p16^{INK4a}$ resulted in significant differences in survival rates (p=0.0105). CONCLUSIONS The above results show that methylation of the gene $p16^{INK4a}$ could be one of the major factors that help determine the recurrence inclination and prognosis of osteosarcomas occurring in the head and neck region.

• Korean Journal of Plant Resources
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• v.25 no.1
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• pp.142-151
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• 2012

This study was carried out to evaluate genetic variation of early-heading rice (Oryza sativa L. cv. Dongjin 1) lines derived from gamma-ray ($^{60}Co$, 300 Gy) irradiation. The average heading date of the 5 early-heading lines in $M_7$ and $M_8$ generation was faster than that of untreated control as 11 (line ${\gamma}$-2), 10 (line ${\gamma}$-5), 6 (${\gamma}$-1 line), 5 (${\gamma}$-3) and 4 days (line ${\gamma}$-4), respectively. According to ISSR analysis, polymorphic rate of the early-heading lines (from 5.9% to 23.4%) was higher than that of control (4.3%). The result indicates that the gamma-ray promote variation at DNA level. When genetic variations of rps16-trnK region were evaluated by nucleotide analysis, nucleotide length of the rps16-trnK region was 664 bp in all the early-heading lines and control. Out of 5 sites of nucleotide transposition detected in the region, however, 2 sites were appeared only in the early-heading lines.

• Journal of the Korea Institute of Information Security & Cryptology
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• v.30 no.5
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• pp.847-857
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• 2020

As IoT equipment is commercialized, Bluetooth or wireless networks will be built into general living devices such as IP cameras, door locks, cars and TVs. Security for IoT equipment is becoming more important because IoT equipment shares a lot of information through the network and collects personal information and operates the system. In addition, web-based attacks and application attacks currently account for a significant portion of cyber threats, and security experts are analyzing the vulnerabilities of cyber attacks through manual analysis to secure them. However, since it is virtually impossible to analyze vulnerabilities with only manual analysis, researchers studying system security are currently working on automated vulnerability detection systems, and Firm-AFL, published recently in USENIX, proposed a system by conducting a study on fuzzing processing speed and efficiency using a coverage-based fuzzer. However, the existing tools were focused on the fuzzing processing speed of the firmware, and as a result, they did not find any vulnerability in various paths. In this paper, we propose IoTFirmFuzz, which finds more paths, resolves constraints, and discovers more crashes by strengthening the mutation process to find vulnerabilities in various paths not found in existing tools.

• Microbiology and Biotechnology Letters
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• v.49 no.1
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• pp.75-87
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• 2021

Type I Interferons (IFNα) are known for their role as biological anticancer agents owing to their cell-apoptosis inducing properties. Development of an appropriate, cost-effective host expression system is crucial for meeting the increasing demand for proteins. Therefore, this study aims to develop codon-optimized IFNα-2b in L. lactis NZ3900. These cells express extracellular protein using the NICE system and Usp₄₅ signal peptide. To validate the mature form of the expressed protein, the recombinant IFNα-2b was screened in a human colorectal cancer cell line using the cytotoxicity assay. The IFNα-2b was successfully cloned into the pNZ8148 vector, thereby generating recombinant L. lactis pNZ8148-SP_Usp45-IFNα-2b. The computational analysis of codon-optimized IFNα-2b revealed no mutation and amino acid changes; additionally, the codon-optimized IFNα-2b showed 100% similarity with native human IFNα-2b, in the BLAST analysis. The partial size exclusion chromatography (SEC) of extracellular protein yielded a 19 kDa protein, which was further confirmed by its positive binding to anti-IFNα-2b in the western blot analysis. The crude protein and SEC-purified partial fraction showed IC₅₀ values of 33.22 ㎍/ml and 127.2 ㎍/ml, respectively, which indicated better activity than the metabolites of L. lactis NZ3900 (231.8 ㎍/ml). These values were also comparable with those of the regular anticancer drug tamoxifen (105.5 ㎍/ml). These results demonstrated L. lactis as a promising host system that functions by utilizing the pNZ8148 NICE system. Meanwhile, codon-optimized usage of the inserted gene increased the optimal protein expression levels, which could be beneficial for its large-scale production. Taken together, the recombinant L. lactis IFNα-2b is a potential alternative treatment for colorectal cancer. Furthermore, its activity was analyzed in the WiDr cell line, to assess its colorectal anticancer activities in vivo.