• Title/Summary/Keyword: Variant

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Loss of Specific Sequences in a Natural Variant of Potato Proteinase Inhibitor II Gene Results in a Loss of Wound-Inducible Gene Expression (감자의 단백질 분해효소 억제제 II 유전자의 특별한 염기서열의 자연적 제거로 인한 상처 유발성 발현의 소실)

  • Thornburg, Robert W.;Park, Sang-Gyu
    • Applied Biological Chemistry
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    • v.39 no.2
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    • pp.104-111
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    • 1996
  • We have isolated several proteinase inhibitor II genes pin2 from a Russet Burbank potato DNA library. One of these, pin2T was subcloned and a 1.8 kb Xbal/Nsil insert was sequenced. This fragment contained the complete Inhibitor II gene including 965 Up of flanking DNA upstream from the gene and 200 bp of flanking DNA downstream from the gene. The open reading frame encodes a protein that is similar to other reported proteinase Inhibitor II proteins. The DNA sequence of the 5' flanking region of pin2T from -714 to +1 is highly homologous (91% identity) with that of the previously isolated wound-inducible pin2K. There are, however, four small deletions in the pin2T promoter which are located at -221 to -200, -263 to -254, -523 to -426 and -759 to -708 relative to the transcription start site of the wound-inducible pin2K. Three of these deletions map to a portion of the promoter that controls the wound-inducibility of the proteinase inhibitor genes. Chimeric genes containing the promoter of the pin2T gene linked with the both CAT and GUS were constructed and transfered into tobacco plants. Analysis of these plants indicated that pin2T is not a wound-inducible gene but is expressed at low levels. Thus, wound-inducibility is lost with the concomitant natural deletion of three small regions of the promoter. Comparision of the sequences deleted in pin2T relative to the pin2K with Genebank sequences indicates that the deleted sequences contain a motif (consensus 5'-AGTAAA-3') that is found in many other wound-inducible genes but not easily found in the published promoter sequences of other plant genes. Nuclear proteins from unwounded and wounded potato leaves were bound to the proximal promoter region, downstream of the 5'-AGTAAA-3', of pin2T. The comparison of the pin2T gone with the pin2K gene indicates that the natural internal promoter deletions are likely responsible for loss of the wound-inducible phenotype in the pin2T gene.

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Cellular Localization and Translocation of Duplication and Alternative Splicing Variants of Olive Flounder Phospholipase C-δ1 (넙치 3가지 타입 인지질가수분해효소(PLC-δ1)의 세포 내 위치 및 이동)

  • Kim, Na Young;Kim, Moo-Sang;Jung, Sung Hee;Kim, Myoung Sug;Cho, Mi Young;Chung, oon Ki;Ahn, Sang Jung
    • Journal of Life Science
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    • v.27 no.11
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    • pp.1369-1375
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    • 2017
  • The purpose of this study was to investigate the cellular characterization of phospholipase C-${\delta}1$ in olive flounders (Paralichthys olivaceus). In general, phospholipase C signaling pathways are distributed in nuclei at plasma membranes and in cytoplasms, although the pathways' nuclear localization mechanisms are unclear. P. olivaceus duplicates type-A PoPLC-${\delta}1$ (PoPLC-${\delta}1A$), which has a high similarity to the human isoform PLC-${\delta}$; type-B PoPLC-${\delta}1$ (PoPLC-${\delta}1B$ [Sf]), which has a low similarity to the human isoform PLC-${\delta}$ and the alternative splice variant PoPLC-${\delta}1B$ (Lf), which has a nuclear localization signal (NLS) and a nuclear export signal (NES) for nuclear imports and exports, respectively. This study confirmed the effects of the cellular localization and translocation of GFP-tagged PoPLC-${\delta}1A$, PoPLC-${\delta}1B$ (Sf) and PoPLC-${\delta}1B$ (Lf). It administered treatments of $Ca^{2+}$ ionophore ionomycin and endoplasmic reticulum (ER)-$Ca^{2+}$ pump inhibitor thapsigargin to hirame natural-embryo (HINAE) cells. A laser-scanning confocal microscope was used. GFP-tagged PoPLC-${\delta}1A$ was distributed to the cellular organelles, rather than to the cytoplasms and cytomembranes, when PoPLC-${\delta}1B$ (Lf) and PoPLC-${\delta}1B$ (Sf) were localized at the plasma membranes. The treatments of ionomycin and thapsigargin showed the accumulation of PoPLC-${\delta}1A$ in the nuclei when PoPLC-${\delta}1B$ (Lf) nucleocytoplasmic shuttling and PoPLC-${\delta}1B$ (Sf) nucleocytoplasmic shuttling were not observed. The results were the first evidence that PoPLC-${\delta}1A$, which contains functional, intact NES sequences, has a main role in nucleocytoplasmic shuttling and translocation in fish.

Study on the Characteristic of Media Lawsuits by Public Figures and the Tendency of the Court Decisions in Korea: Focusing on the Decision about Defamation of Politicians and Senior Government Officials Since 1989 (공인의 미디어 소송 특징과 국내 판결 경향에 관한 연구: 1989년 이후 정치인 및 고위 공직자 명예훼손 판례를 중심으로)

  • Yun, Sung-Oak
    • Korean journal of communication and information
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    • v.40
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    • pp.150-191
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    • 2007
  • Defamation lawsuits of public figures against media have been an issue since Roh government set in. Dissension between the government and media has probably acted as the key factor on this problem. Accordingly, arguments on the defamation lawsuits of public figures occurred the political issues such as opposition between the Progressive and the Conservative Parties or between the ins and the outs and showed the limits to suggest an appropriate judgment or solution. This study will analyze how the court makes its judgement on their rights and the limits by understanding the characteristic and the problem of defamation lawsuits made by senior government officials including a politician, the government, the president, and etc. As results, the defamation lawsuits of politicians and senior government officials showed specially noteworthy matters in salvation (damage suits), the amount claimed, court costs, ratio of winning lawsuits, and etc. The result on the tendency of the court decision showed the following matters in confusion: it holds the media responsible for the burden of proof by applying the inappropriate criterion; The applied laws, especially in the inferior court decision, do not show the consistency of the burden of proof between the misconception/ intention (malice)/ accident/ purpose of slander on the legal principles of public figures. Therefore, this study suggests the court to apply an appropriate law, let alone regulating the Anti-SLAPP law, so that it curtails the rights of public figures; limits the salvation of damage suit; and protects the right only in the case of false accusation by applying the existing law of "the Protection of the Deceased's Defamation Law." In order to dissolve the confusion when applying the laws on the public figures, the study insists the court to positively apply the Constitutional Court made criterion on "people" and "content." The study also insists to distinguish "intention(malice)," "accident," and "purpose of slander" and variant sorts of the burden of proof should be applied to each.

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The Use of Normal Tissue Complication Probability to Predict Radiation Hepatitis (간암의 정상조직손상확률을 이용한 방사선간염의 발생여부 예측가능성에 관한 연구)

  • Keum Ki Chang;Seong Jinsil;Suh Chang Ok;Lee Sang-wook;Chung Eun Ji;Shin Hyun Soo;Kim Gwi Eon
    • Radiation Oncology Journal
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    • v.18 no.4
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    • pp.277-282
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    • 2000
  • Purpose : Though It has been known that the to tolerance of the liver to external beam irradiation depends on the irradiated volume and dose, few data exist which Quantify this dependence. However, recently, with the development of three dimensional (3-D) treatment planning, have the tools to Quantify the relationships between dose, volume, and normal tissue complications become available. The objective of this study is to investigate the relationships between normal tissue complication probabili쇼 (WCP) and the risk of radiation hepatitis for patients who received variant dose partial liver irradiation. Materials and Methods : From March 1992 to December 1994, 10 patients with hepatoma and 10 patients with bile duct cancer were included in this study. Eighteen patients had normal hepatic function, but 2 patients (prothrombin time 73$\%$, 68$\%$) had mild liver cirrhosis before irradiation. Radiation therapy was delivered with 10MV linear accelerator, 180$\~$200 cGy fraction per day. The total dose ranged from 3,960 cGy to 6,000 cGy (median dose 5,040 cGy). The normal tissue complication probability was calculated by using Lyman's model. Radiation hepatitis was defined as the development of anicteric elevation of alkaline phosphatase of at least two fold and non-malignant ascites in the absence of documented progressive. Results: The calculated NTCP ranged from 0.001 to 0.840 (median 0.05). Three of the 20 patients developed radiation hepatitis. The NTCP of the patients with radiation hepatitis were 0.390, 0.528, 0.844(median : 0.58$\pm$0.23), but that of the patients without radiation hepatitis ranged fro 0.001 to 0.308 (median .0.09$\pm$0.09). When the NTCP was calculated by using the volume factor of 0.32, a radiation hepatitis was observed only in patients with the NTCP value more than 0.39. By contrast, clinical results of evolving radiation hepatitis were not well correlated with NTCP value calculated when the volume factor of 0.69 was applied. On the basis of these observations, the volume factor of 0.32 was more correlated to predict a radiation hepatitis. Conclusion : The risk of radiation hepatitis was increased above the cut-off value. Therefore the NTCP seems to be used for predicting the radiation hepatitis.

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Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population

  • Hwang, Joo-Yeon;Lee, Seung-Hun;Go, Min-Jin;Kim, Beom-Jun;Kim, Young-Jin;Kim, Dong-Joon;Oh, Ji-Hee;Koo, Hee-Jo;Cha, My-Jung;Lee, Min-Hye;Yun, Ji-Young;Yoo, Hye-Sook;Kang, Young-Ah;Oh, Ki-Won;Kang, Moo-Il;Son, Ho-Young;Kim, Shin-Yoon;Kim, Ghi-Su;Han, Bok-Ghee;Cho, Yoon-Shin;Koh, Jung-Min;Lee, Jong-Young
    • Genomics & Informatics
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    • v.9 no.2
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    • pp.52-58
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    • 2011
  • Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

Shape and Incidence of Rib Variations in Chest Radiographs (단순흉부촬영상 관찰되는 늑골 변이의 양상 및 빈도)

  • Joo, Ji-Seon;Bae, In-Young;Kim, Sung-Tae;Kwak, Seung-Min;Cho, Chul-Ho;Cho, Seung-Wook;Park, Chan-Sup
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.1
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    • pp.45-53
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    • 2000
  • Background: The literature on variations of rib is limited. Very little has been written in the radiological journal of this country on the subject. It seemed of interest to investigate the nature and incidence of congenital variations in a series of routine chest roentgenograms. The topic of rib variations has not been covered extensively in the radiological journals in Korea. This has presented an opportunity to investigate the nature, type, shape and incidences of congenital rib variations in normal Korean adults from a series of routine roentgenograms. Methods: Chest radiographs of 5,000 adults, who visited our hospital for a routine check-up or for employment physical examinations from January 1996 to September 1998, were consecutively reviewed. The sex distribution consisted of 2,827 male males and 2,173 female females(ratio of 1.3:1) with the age range aged between 19 and 65 years(mean age: 34.6 years) were included. The chest PAs were analyzed for the presence, type, location, and shape of the rib variations. From this data the incidence of each type of variations was calculated. Results: Seventy-six of the 5,000 adults(1.52%), 63 male(2.23%) and 13 female(0.6%), showed 88 cases of rib variation(Table 1). The most common variation was the bifid rib(n=35), followed by hypoplasia of the rib(n=22), flaring of the rib(n=18), bridging of the ribs(n=7), cervical ribs(n=3), and fusion of between ribs(n=3)(Table 2). The bifid rib(Table 1) was found most frequent in the right fourth rib(12/35, 34.3%), followed by the left fifth rib(6/35, 17.1%) and right third rib(6/35, 17.1%). Hypoplasia of the rib was common in first rib(20/22, 90.9%). Flaring of the rib was common at fourth rib(8/18, 44.4%, right and left combined), and bridging between ribs was common between first and second rib(3/7, 42.9%). Conclusion : The percentage of incidence of rib variations in adults was 1.52%. Bifid rib was the most common variation, followed by hypoplasia, flaring, bridging, cervical rib, and fusion of ribs, in decreasing order.

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Genetic Polymorphism in Corticotropin-releasing Hormone Receptor Type-1 in Preeclamptic Korean Women

  • Lim, Ji-Hyae;Kim, Shin-Young;Park, So-Yeon;Kim, Do-Jin;Kim, Mi-Jin;Ahn, Hyun-Kyong;Han, Jung-Yeol;Kim, Moon-Young;Park, Hyun-Young;Lee, Kwang-Soo;Kim, Young-Ju;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.113-118
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    • 2011
  • Purpose: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically influenced. The aim of this study was to investigate the association between the c.33+8199C>T polymorphism in the CRHR1 gene and PE in a Korean population. Materials and Methods: Using a case-control design, the association between the CRHR1 polymorphism and the risk of PE was investigated in 203 individuals with PE and 211 normotensive controls. Genotypes were determined using a SNapShot kit and an ABI Prism 3100 Genetic analyzer. Results: Genotypes and allele frequencies for the CRHR1 polymorphism did not differ between PE and normotensive pregnancies. The variant T allele was more frequent than the ancestral C allele in both of the groups and was more frequent in the controls than in the cases. In risk analysis for PE, there was not an increased risk of preeclampsia in subjects who were concomitant homozygous rare allele genotypes (CC) (OR, 0.3; P=0.15) or heterozygous rare allele genotypes (TC) (OR, 0.8; P=0.29). There were no differences in the complications of PE such as severity or preterm delivery in patients with the CRHR1 polymorphism. Conclusion: Our findings indicate that the CRHR1 polymorphism was not associated with PE in the present Korean study group.

Characterization and β-secretase Inhibitory Activity of Water-soluble Polysaccharides Isolated from Phellinus linteus Fruiting Body (상황버섯 자실체로부터 분리된 수용성 다당류의 특성 분석 및 이의 베타 시크리타아제 활성 저해효과)

  • Jo, Hang Soo;Choi, Doo Jin;Chung, Mi Ja;Park, Jae Kweon;Park, Yong Il
    • The Korean Journal of Mycology
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    • v.40 no.4
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    • pp.229-234
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    • 2012
  • A key molecule in the pathogenesis of Alzheimer's disease (AD) is the ${\beta}$-amyloid peptide ($A{\beta}$) generated by ${\beta}$-secretase activity, an aspartic protease. This study was designed to evaluate inhibitory effect of the high-molecular weight water-soluble polysaccharides (Et-P) isolated and purified from Phellinus linteus fruiting body on ${\beta}$-secretase activity. The Et-P was purified from the hot water extract of Phellinus linteus fruiting body mainly by 75% ethanol precipitation and DEAE-Cellulose column chromatography. From the DEAE-Cellulose chromato-gram and molecular weight analysis, the Et-P was shown to be a mixture of three polysaccharides with molecular mass of 1,629, 1,294, and 21 kDa, respectively. The monosaccharide composition of Et-P was determined to be glu-cose, galactose, and mannose as major sugars, glucose being the most prominent one (48% in mole percentage). The elemental analysis and FT-IR analysis suggested that Et-P is typical polysaccharides having at least partially ${\beta}$-linkages and possible existing as complex with phenolic compounds. The laminarinase digestion and HPAEC-PAD analysis suggested that Et-P is a variant of beta-(1,3)-glucans. The Et-P showed DPPH radical scavenging activity and, especially, a significant inhibitory activity on ${\beta}$-secreatase activity (48% inhibitin at 100 ${\mu}g/mL$), suggesting that they may inhibit the formation of $A{\beta}$ which is the major causative of Alzheimer's disease. The results of this study suggest that the water soluble polysaccharides of Phellinus linteus fruiting body can be a potent material for the development of preventive or therapeutic agents for AD.

Modified Traditional Calibration Method of CRNP for Improving Soil Moisture Estimation (산악지형에서의 CRNP를 이용한 토양 수분 측정 개선을 위한 새로운 중성자 강도 교정 방법 검증 및 평가)

  • Cho, Seongkeun;Nguyen, Hoang Hai;Jeong, Jaehwan;Oh, Seungcheol;Choi, Minha
    • Korean Journal of Remote Sensing
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    • v.35 no.5_1
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    • pp.665-679
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    • 2019
  • Mesoscale soil moisture measurement from the promising Cosmic-Ray Neutron Probe (CRNP) is expected to bridge the gap between large scale microwave remote sensing and point-based in-situ soil moisture observations. Traditional calibration based on $N_0$ method is used to convert neutron intensity measured at the CRNP to field scale soil moisture. However, the static calibration parameter $N_0$ used in traditional technique is insufficient to quantify long term soil moisture variation and easily influenced by different time-variant factors, contributing to the high uncertainties in CRNP soil moisture product. Consequently, in this study, we proposed a modified traditional calibration method, so-called Dynamic-$N_0$ method, which take into account the temporal variation of $N_0$ to improve the CRNP based soil moisture estimation. In particular, a nonlinear regression method has been developed to directly estimate the time series of $N_0$ data from the corrected neutron intensity. The $N_0$ time series were then reapplied to generate the soil moisture. We evaluated the performance of Dynamic-$N_0$ method for soil moisture estimation compared with the traditional one by using a weighted in-situ soil moisture product. The results indicated that Dynamic-$N_0$ method outperformed the traditional calibration technique, where correlation coefficient increased from 0.70 to 0.72 and RMSE and bias reduced from 0.036 to 0.026 and -0.006 to $-0.001m^3m^{-3}$. Superior performance of the Dynamic-$N_0$ calibration method revealed that the temporal variability of $N_0$ was caused by hydrogen pools surrounding the CRNP. Although several uncertainty sources contributed to the variation of $N_0$ were not fully identified, this proposed calibration method gave a new insight to improve field scale soil moisture estimation from the CRNP.

Identification of Compound Heterozygous Alleles in a Patient with Autosomal Recessive Limb-Girdle Muscular Dystrophy (상염색체 열성 지대형 근이영양증 환자로부터 TTN 유전자의 복합 이형접합성 대립유전자의 분리)

  • Choi, Hee Ji;Lee, Soo Bin;Kwon, Hye Mi;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.31 no.10
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    • pp.913-921
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    • 2021
  • Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.