• BMB Reports
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• v.37 no.2
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• pp.246-253
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• 2004

Constitutional RB1 gene mutations were studied in a series of 21 families with unilateral and bilateral retinoblastoma patients. Peripheral blood lymphocytes were analyzed by "exon by exon" PCR-heteroduplex and sequencing. Mutations were identified in 6 (29%) of the patients. One mutation corresponded to an intronic polymorphism in g.174351T > A. The other five mutations resulted C to T exonic transitions, four were CGA sequences (g.65386, g.150037 in two patients, and g.162237), creating stop codons and presumably truncated proteins. The fifth one was new and resulted in alanine to valine substitution (g.73774). Two patients had the same the germline truncated mutation (g.150037C > T), one with a familial bilateral early onset retinoblastoma and one with a sporadic unilateral late onset retinoblastoma. The later type has not been previously described. This finding is discussed in the genotype/phenotype correlation context. Additionally, a single nucleotide change was found in six studied samples, where a C to T homozygous transversion was identified in intron 26 (IVS26 + 28). It is worthy the non concordance of the nucleotide with the published sequence. This analysis proved to be a useful method for the detection of mutations in the RB1 gene, and contributed to the adequate genetic counseling to patients and relatives.

• The Journal of Korean Academy of Prosthodontics
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• v.49 no.4
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• pp.341-345
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• 2011

Genetic association study has been progressed in medicine along with advance in genetic technology. It focused on the individual differences in genotype due to errors occurring during DNA duplication, which can cause vulnerability to specific diseases. Polymorphism defines the varieties in phenotype due to those genetic variations. Polymorphism due to change in one DNA base sequence is called as a Single Nucleotide Polymorphism. In the near future, the evaluation of relative risk to specific disease according to SNP will be essential part of fundamental of medicine for the diagnosis, treatment and prevention. Dental caries and periodontal diseases has been first subject to genetic association study in dentistry and broaden out to other areas like bone formation and resorption. This article presents the current state of genetic association study and its application to dentistry.

• Journal of Ginseng Research
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• v.44 no.2
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• pp.300-307
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• 2020

Background: Emerging evidence suggests that endothelial-to-mesenchymal transition (EndMT) in endothelial dysfunction due to persistent inflammation is a key component and emerging concept in the pathogenesis of vascular diseases. Ginsenoside Rg3 (Rg3), an active compound from red ginseng, has been known to be important for vascular homeostasis. However, the effect of Rg3 on inflammation-induced EndMT has never been reported. Here, we hypothesize that Rg3 might reverse the inflammation-induced EndMT and serve as a novel therapeutic strategy for vascular diseases. Methods: EndMT was examined under an inflammatory condition mediated by the NOD1 agonist, γ-d-glutamyl-meso-diaminopimelic acid (iE-DAP), treatment in human umbilical vein endothelial cells. The expression of EndMT markers was determined by Western blot analysis, real-time polymerase chain reaction, and immunocytochemistry. The underlying mechanisms of Rg3-mediated EndMT regulation were investigated by modulating the microRNA expression. Results: The NOD1 agonist, iE-DAP, led to a fibroblast-like morphology change with a decrease in the expression of endothelial markers and an increase in the expression of the mesenchymal marker, namely EndMT. On the other hand, Rg3 markedly attenuated the iE-DAP-induced EndMT and preserved the endothelial phenotype. Mechanically, miR-139 was downregulated in cells with iE-DAP-induced EndMT and partly reversed in response to Rg3 via the regulation of NF-κB signaling, suggesting that the Rg3-miR-139-5p-NF-κB axis is a key mediator in iE-DAP-induced EndMT. Conclusion: These results suggest, for the first time, that Rg3 can be used to inhibit inflammation-induced EndMT and may be a novel therapeutic option against EndMT-associated vascular diseases.

• 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).

• International Journal of Industrial Entomology and Biomaterials
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• v.39 no.1
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• pp.14-21
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• 2019

Genome editing by CRISPR/Cas9, a third-generation gene scissor in molecular breeding at the genome level, is attracting much attention as one of the breeding techniques of the future. In this study, genetic and phenotypic analysis was used to examine the responsiveness of the Bakokjam variety of the silkworm Bombyx mori to molecular breeding using CRISPR/Cas9 in editing the white egg 2 (w-2) gene. The nucleotide sequence of the w-2 gene was analyzed and three different guide RNAs (gRNA) were prepared. The synthesized gRNA was combined with Cas9 protein and then analyzed by T7 endonuclease I after introduction into the Bm-N silkworm cell line. To edit the silkworm gene, W1N and W2P gRNA and Cas9 complexes were microinjected into silkworm embryos. Based on the results of microinjection, the hatching rate was 16-24% and the incidence of mutation was 33-37%. The gene mutation was verified in the heterozygous F1 generation, but no phenotypic change was observed. In F2 homozygotes generated by F1 self-crosses, a mutant phenotype was observed. These results suggest that silkworm molecular breeding using the CRISPR/Cas9 system is possible and will be a very effective way to shorten the time required than the traditional breeding process.

• BMB Reports
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• v.52 no.1
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• pp.56-63
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• 2019

Aging is a complex and progressive process characterized by physiological and functional decline with time that increases susceptibility to diseases. Aged-related functional change is accompanied by a low-grade, unresolved chronic inflammation as a major underlying mechanism. In order to explain aging in the context of chronic inflammation, a new integrative concept on age-related chronic inflammation is necessary that encompasses much broader and wider characteristics of cells, tissues, organs, systems, and interactions between immune and non-immune cells, metabolic and non-metabolic organs. We have previously proposed a novel concept of senescent (seno)-inflammation and provided its frameworks. This review summarizes senoinflammation concept and additionally elaborates modulation of senoinflammation by calorie restriction (CR). Based on aging and CR studies and systems-biological analysis of Omics big data, we observed that senescence associated secretory phenotype (SASP) primarily composed of cytokines and chemokines was notably upregulated during aging whereas CR suppressed them. This result further strengthens the novel concept of senoinflammation in aging process. Collectively, such evidence of senoinflammation and modulatory role of CR provide insights into aging mechanism and potential interventions, thereby promoting healthy longevity.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.634-639
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• 2005

Purpose : An understanding of the immunological process is required if primary prevention of atopic diseases is to be developed in early childhood. But, it is too hard to distinguish atopy from nonatopy under the age of two clinically, because the expression of phenotype and cytokines is vague in early childhood. We evaluated DNA methylation changes at Th2 interleukin-4 gene in peripheral blood from atopic children. Methods : We selected 15 allergic children(mild : eight, moderate to severe : seven) and seven normal controls by using family allergy scores and clinical histories. We measured Total IgE and Der f II specific IgE levels and cultured peripheral blood mononuclear cells with Der f II stimulation and extracted DNA from Der f II specific T cells. We examined the change of CpG methylation in DNA from atopic and nonatopic children. Results : In T cells from normal children, IL-4 DNA were predominantly methylated; otherwise, CpG demethylation occurred in Der f II specific T cells from allergic children. Conclusion : IL-4 DNA methylation changes occurred in T genes from allergic children and DNA methylation assay in early childhood.

• Korean Journal of Ecology and Environment
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• v.51 no.4
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• pp.259-267
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• 2018

This study was conducted to confirm phenological response of main deciduous woody species in Korea according to elevated temperature. Based on seeds collected from the same place, 39 woody species were cultivated in field (control) and in greenhouse (treatment) that was maintained above base temperature ($4.8^{\circ}C$). And then, we observed phenotype change of leaves focused on phenological response and explained relation with their current distribution area. As a result, initiation period of leaves unfolding was 1st~3rd, May in control. It was 13, December~7, January in treatment. Period of leaves yellowing was 11~26, October in control. It was 30, October~13, November in treatment. Consequently, initiation period of leaves unfolding was faster by 119~140 days and period of leaves yellowing was slower by 3~32 days since elevated temperature. Period of leaves growth increased in treatment by 148 days than control. Quercus mongolica and Quercus serrata that cultivated in treatment was changed as evergreen trees which have grown up continuely during one year. Also, initiation period of leaves unfolding of Sorbus alnifolia in treatment was faster than in control. However, difference of the period between control and treatment was smallest. Because period of yellowing leaves was moved ahead. Phenological response of leaves according to elevated temperature had no relation of type of their current distribution area. This is the result of acclimation due to elevated temperature during the winter and suggests that the phenotype of leaves of 39 deciduous woody species is more sensitive to the current growth condition than to the past growth condition.

• Journal of Animal Science and Technology
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• v.62 no.4
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• pp.429-437
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• 2020

This study was conducted to construct basic data for the selection of elite cows by analyzing the estimated breeding value (EBV) and accuracy using the pedigree of Hanwoo cows in Gyeongnam. The phenotype trait used in the analysis are the carcass weight (CWT), eye muscle area (EMA), backfat thickness (BFT) and marbling score (MS). The pedigree of the test group and reference group was collected to build a pedigree structure and a numeric relationship matrix (NRM). The EBV, genetic parameters and accuracy were estimated by applying NRM to the best linear unbiased prediction (BLUP) multiple-trait animal model of the BLUPF90 program. Looking at the pedigree structure of the test group, there were a total of 2,371 cows born between 2003 to 2009, of these 603 cows had basic registration (25%), 562 cows had pedigree registration (24%) and 1,206 cows had advanced registration (51%). The proportion of pedigree registered cows was relatively low but it gradually increased and reached a point of 20,847 cows (68%) between 2010 to 2017. Looking at the change in the EBV, the CWT improved from 4.992 kg to 9.885 kg, the EMA from 0.970 ㎠ to 2.466 ㎠, the BFT from -0.186 mm to -0.357 mm, and the MS from 0.328 to 0.559 points. As a result of genetic parameter estimation, the heritability of CWT, EMA, BFT, and MS were 0.587, 0.416, 0.476, and 0.571, respectively, and the accuracy of those were estimated to be 0.559, 0.551, 0.554, and 0.558, respectively. Selection of superior genetic breed and efficient improvement could be possible if cow ability verification is implemented by using the accurate pedigree of each individual in the farms.

• Journal of Embryo Transfer
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• v.21 no.4
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• pp.287-297
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• 2006

Concentration of hormones and blood components at the last fatting stage was changed before slaughter in Hanwoo steers and bulls. Two months before slaughter and shipment, concentration of cortisol and creatinine was increased, but that of calcium was decreased. Concentration of insulin growth factor-1 (IGF-1) was decreased after shipment, and inorganic phosphorus (IP) was decreased at slaughter. It is unclear that changes of concentration in between 2 months before slaughter and shipment were either caused by aging or stresses (abstinence, environmental change, blood drawing, and shipment). Changes of blood concentration between shipment and slaughter may be accounted for overall responses from abstinence, shipment, and unfamiliar environment. A positive correlation between 2 months before slaughter and before shipment was detected for IGF-1, total protein (TP), albumin, creatinine, high density lipoprotein cholesterol (HDLC), and globulin in steers, and creatinine and globulin in bulls. A positive correlation between 2 month before slaughter and slaughter was detected for IGF-1, blood urea nitrogen (BUN), IP and HDLC in steers, and creatinine in bulls. A positive correlation between before shipment and slaughter was detected for testosterone, IGF-1, creatinine, triglyceride, HDLC and globulin in steers, and TP, creatinine, HDLC and globulin in bulls.