• 제목/요약/키워드: deletion analysis

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Polymorphisms and expression levels of TNP2, SYCP3, and AZFa genes in patients with azoospermia

  • Mohammad Ismael Ibrahim Jebur;Narges Dastmalchi;Parisa Banamolaei;Reza Safaralizadeh
    • Clinical and Experimental Reproductive Medicine
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    • v.50 no.4
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    • pp.253-261
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    • 2023
  • Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

A Novel Human BTB-kelch Protein KLHL31, Strongly Expressed in Muscle and Heart, Inhibits Transcriptional Activities of TRE and SRE

  • Yu, Weishi;Li, Yongqing;Zhou, Xijin;Deng, Yun;Wang, Zequn;Yuan, Wuzhou;Li, Dali;Zhu, Chuanbing;Zhao, Xueying;Mo, Xiaoyang;Huang, Wen;Luo, Na;Yan, Yan;Ocorr, Karen;Bodmer, Rolf;Wang, Yuequn;Wu, Xiushan
    • Molecules and Cells
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    • v.26 no.5
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    • pp.443-453
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    • 2008
  • The Bric-a-brac, Tramtrack, Broad-complex (BTB) domain is a protein-protein interaction domain that is found in many zinc finger transcription factors. BTB containing proteins play important roles in a variety of cellular functions including regulation of transcription, regulation of the cytoskeleton, protein ubiquitination, angiogenesis, and apoptosis. Here, we report the cloning and characterization of a novel human gene, KLHL31, from a human embryonic heart cDNA library. The cDNA of KLHL31 is 5743 bp long, encoding a protein product of 634 amino acids containing a BTB domain. The protein is highly conserved across different species. Western blot analysis indicates that the KLHL31 protein is abundantly expressed in both embryonic skeletal and heart tissue. In COS-7 cells, KLHL31 proteins are localized to both the nucleus and the cytoplasm. In primary cultures of nascent mouse cardiomyocytes, the majority of endogenous KLHL31 proteins are localized to the cytoplasm. KLHL31 acts as a transcription repressor when fused to GAL4 DNA-binding domain and deletion analysis indicates that the BTB domain is the main region responsible for this repression. Overexpression of KLHL31 in COS-7 cells inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE). KLHL31 also significantly reduces JNK activation leading to decreased phosphorylation and protein levels of the JNK target c-Jun in both COS-7 and Hela cells. These results suggest that KLHL31 protein may act as a new transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions.

Sequence diversity of Mitochondrial DNA HV1 in Korean population (한국인 집단의 미토콘드리아 DNA HV1 부위에서의 염기서열 다양성)

  • Lim, Si-Keun;Kim, Eung-Su;Kim, Soon-Hee;Park, Ki-Won;Han, Myun-Soo
    • Analytical Science and Technology
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    • v.18 no.4
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    • pp.362-367
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    • 2005
  • The human mitochondrial genome (mtDNA) has been an important tool in the field of forensic investigations. Within the entire mtDNA molecule, the non-coding control region which is approximately 1,100 bp including hypervariable region I and II (HV1 and HV2) is widely studied because it is highly polymorphic and useful for human identification purposes. In this study, 360 unrelated Koreans were analyzed in HV1. The number of polymorphic sites and genetic lineage were 124 and 210, respectively. The most prevalent substitution was C-T and 75.8% of DNA showed C-T substitution at 16223. There were 20 kinds of polymorphism between 16180 and 16193 including insertion and deletion. The most frequent haplotype was [16223T, 16362C] representing 5%. Approximately 25.9% of DNA showed the same haplotype in at least two samples. The gene diversity was calculated to 0.996 and the probability of two unrelated perosons having the same haplotype was determined to 0.7%.

Multi-Level Optimization of Framed Structures Using Automatic Differentiation (자동미분을 이용한 뼈대구조의 다단계 최적설계)

  • Cho, Hyo-Nam;Chung, Jee-Sung;Min, Dae-Hong;Lee, Kwang-Min
    • Journal of Korean Society of Steel Construction
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    • v.12 no.5 s.48
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    • pp.569-579
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    • 2000
  • An improved multi-level (IML) optimization algorithm using automatic differentiation (AD) of framed structures is proposed in this paper. For the efficiency of the proposed algorithm, multi-level optimization techniques using a decomposition method that separates both system-level and element-level optimizations, that utilizes and an artificial constraint deletion technique, are incorporated in the algorithm. And also to save the numerical efforts, an efficient reanalysis technique through approximated structural responses such as moments and frequencies with respect to intermediate variables is proposed in the paper. Sensitivity analysis of dynamic structural response is executed by AD that is a powerful technique for computing complex or implicit derivatives accurately and efficiently with minimal human effort. The efficiency and robustness of the IML algorithm, compared with a plain multi-level (PML) algorithm, is successfully demonstrated in the numerical examples.

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Line Edge-Based Type-Specific Corner Points Extraction for the Analysis of Table Form Document Structure (표 서식 문서의 구조 분석을 위한 선분 에지 기반의 유형별 꼭짓점 검출)

  • Jung, Jae-young
    • Journal of Digital Contents Society
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    • v.15 no.2
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    • pp.209-217
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    • 2014
  • It is very important to classify a lot of table-form documents into the same type of classes or to extract information filled in the template automatically. For these, it is necessary to accurately analyze table-form structure. This paper proposes an algorithm to extract corner points based on line edge segments and to classify the type of junction from table-form images. The algorithm preprocesses image through binarization, skew correction, deletion of isolated small area of black color because that they are probably generated by noises.. And then, it processes detections of edge block, line edges from a edge block, corner points. The extracted corner points are classified as 9 types of junction based on the combination of horizontal/vertical line edge segments in a block. The proposed method is applied to the several unconstraint document images such as tax form, transaction receipt, ordinary document containing tables, etc. The experimental results show that the performance of point detection is over 99%. Considering that almost corner points make a correspondence pair in the table, the information of type of corner and width of line may be useful to analyse the structure of table-form document.

An Examination of an Efficient UI of Smartphone Home Screen Structure (스마트폰의 홈 화면구조에 따른 효율적 UI 방안 모색)

  • Choi, Jinhae
    • Journal of the Ergonomics Society of Korea
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    • v.36 no.5
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    • pp.437-446
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    • 2017
  • Objective: This study aims to draw an efficient UI design by comparing the usability of App drawer and single-layered home screens, which are smartphone home screens. Background: Because smartphone home screen is frequently used including the installation, deletion, and editing of APPs, it should be designed with easily controllable information structure. There is a need to seek a user-friendly UI by comparing the usability of App drawer and single-layered home screens, of which methods to search Apps are different. There is also a need to examine an efficient UI and the factors to improve from the user perspective. Method: This study targeted 30 Android OS and iOS users to evaluate the App drawer and single-layered home screens, of which UI structures are different. Each participant was instructed to carry out an App searching task and App deleting task, and the execution time and the number of errors were measured. After the tasks were completed, they evaluated satisfaction through a questionnaire survey. Results: In the App searching task with low task level, there was no difference in execution level between the App drawer and single-layered home screens. However, the single-layered home screen showed higher efficiency and accuracy in the App deleting task with high task level. As for the group difference according to use experience, there was no difference in satisfaction among Android OS users, but iOS user satisfaction with single-layered home screen with which they were familiar was higher. Conclusion: As for home screen usability, the single-layered home screen UI structure can be advantageous, as task level is higher. Repulsion was higher, when users, who had used easier UI, used complex UI in comparison with user satisfaction, when users familiar with complex UI used easier UI. A UI indicating the current status with clear label marking through a task flow chart-based analysis, and a UI in which a user can immediately recognize by exposing hidden functions to the first depth were revealed as things to improve. Application: The results of this study are expected to be used as reference data in designing smartphone home screens. Especially, when iOS users use Android OS, the results are presumed to contribute to the reduction of predicted barriers.

Regulation of Notch1/NICD and Hes1 Expressions by GSK-3α/β

  • Jin, Yun Hye;Kim, Hangun;Oh, Minsoo;Ki, Hyunkyung;Kim, Kwonseop
    • Molecules and Cells
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    • v.27 no.1
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    • pp.15-19
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    • 2009
  • Notch signaling is controlled at multiple levels. In particular, stabilized Notch receptor activation directly affects the transcriptional activations of Notch target genes. Although some progress has been made in terms of defining the regulatory mechanism that alters Notch stability, it has not been determined whether Notch1/NICD stability is regulated by $GSK-3{\alpha}$. Here, we show that Notch1/NICD levels are significantly regulated by $GSK-3{\beta}$ and by $GSK-3{\alpha}$. Treatment with LiCl (a specific GSK-3 inhibitor) or the overexpression of the kinase-inactive forms of $GSK-3{\alpha}/{\beta}$ significantly increased Notch1/NICD levels. Endogenous NICD levels were also increased by either $GSK-3{\alpha}/{\beta}$- or $GSK-3{\alpha}$-specific siRNA. Furthermore, it was found that $GSK-3{\alpha}$ binds to Notch1. Deletion analysis showed that at least three Thr residues in Notch1 (Thr-1851, 2123, and 2125) are critical for its response to LiCl, which increased not only the transcriptional activity of endogenous NICD but also Hes1 mRNA levels. Taken together, our results indicate that $GSK-3{\alpha}$ is a negative regulator of Notch1/NICD.

Quantities, Degrees, and Possible Worlds - Lexical Semantics of Korean Adverb '거의(geoui)' (양(quantity), 정도(degree), 가능세계 - 부사 '거의'의 어휘의미를 중심으로 -)

  • Kim, Shin-Hwe
    • Language and Information
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    • v.15 no.2
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    • pp.47-65
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    • 2011
  • A Korean adverb '거의(geoui)' modifies predicates to generate complex predicates which have meanings of 'nearly' complete or typical properties of the modified predicates in quantities, degrees, and frequencies. The modified predicates 'complete' or 'typical' properties are referred counterfactually as standards for the generated predicates' meanings of deficiencies. These counterfactual standards can be formalized by a counterfactual conditional operator of the intensional semantics in Cresswell(1990). The deficiencies in the quantities, degrees, or frequencies of the properties can be expressed formally introducing a world-independent measure of comparison. The measure can be manufactured out of relations between intensional things at indices and their equivalence classes. The world-independent measure of comparison has a semantic structure under-specified in quantity, degree, and frequency, and seems very well-suited in describing lexical meaning of '거의(geoui)'. The lexical-semantic analysis of '거의(geoui)' shows explicitly the plausibility of the indispensable existence of the comparing measure which works across real and counterfactual worlds in natural language meaning. On the other hand, we examined Kim, young-hee(1985)'s proposal of a transition of quantificational meaning for Korean degree adverbs, where he tried to explain the quantificational meaning of Korean degree adverbs in general including '거의(geoui)' with several syntactic and semantic constraints of 'contextual deletion'. But it is shown that the quantificational meanings of the degree adverbs which Kim(1985) discussed are also explained better by their under-specified meanings in quantities, frequencies and degrees with the world-independent measure of comparison applied to their paradigmatic lexical constraint rather than Kim(1985)'s transition of meaning.

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Identification of hrcC, hrpF, and maA Genes of Xanthomonas campestris pv. glycines 8ra: Roles in Pathogenicity and Inducing Hypersensitive Response on Nonhost Plants

  • Park, Byoung-Keun;Ingyu Hwang
    • The Plant Pathology Journal
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    • v.15 no.1
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    • pp.21-27
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    • 1999
  • Nonpathogenic mutants of Xanthomonas campestris pv. glycines were generated with Omegon-Kim to isolate genes essential for pathogenicity and inducing hypersensitive response (HR). Three nonpathogenic multants and two mutants showing slow symptom development were isolated among 1,000 colonies tested. From two nonpathogenic mutants, 8-13 and 26-13, genes homologous to hrcC and hrpF of X. campestris pv. vesicatoria were identified. The nonpathogenic mutant 8-13 had a mutation in a gene homologous to hrpF of X. campestris pv. vesicatoria and failed to cause HR on pepper plants but still induced HR on tomato leaves. The nonpathogenic mutant 26-13 had an insertional mutation in a gene homologous to hrcC of X. campestris pv. vesicatoria and lost the ability to induce HR on pepper leaves but still caused HR on tomato plants. Unlike other phytopathogenic bacteria, the parent strain and these two mutants of X. campestris pv. glycines did not cause HR on tobacco plants. a cosmid clone, pBL1, that complemented the phenotypes of 8-13 was isolated. From the analysis of restriction enzyme mapping and deletion analyses of pBL1, a 9.0-kb Eco RI fragment restored the phenotypes of 8-13. pBL1 failed to complement the phenotypes of 26-13, indicating that the hrcC gene resides outside of the insert DNA of pBL1. One nonpathogenic mutant, 13-33, had a mutation in a gene homologous to a miaA gene encoding tRNA delta (2)-isopentenylpyrophosphate transferase of Escherichia coli. This indicated that tRNA modifications in X. campestris pv. glycines may be required for expression of genes necessary for pathogenicity. The mutant 13-33 multiplied as well as the parent strain did in the culture medium and in planta, indicating that loss of pathogenicity is not due to the inability of multiplication in vivo.

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Genetic and biological characteristics of recent Korean isolates of avian influenza virus subtype H9N2

  • Acharya, Madhav Prasad;Kwon, Hyuk-Joon;Kim, Il-Hwan;Lee, Youn-Jeong;Kim, Jae-Hong
    • Korean Journal of Veterinary Research
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    • v.52 no.4
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    • pp.223-230
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    • 2012
  • The worldwide distribution and continuing genetic mutation of avian influenza virus (AIV) has been posed a great threat to human and animal health. A comparison of 3 isolates of AIV H9N2, A/chicken/Korea/KBNP-0028/00 (H9N2) (KBNP-0028), A/chicken/Korea/SNU8011/08 (H9N2) (SNU 8011) and an inactivated oil vaccine strain A/chicken/Korea/01310/01 (H9N2) (01310), was performed. The former 2 AIVs were isolated from field cases before and after the application of an inactivated H9N2 vaccine in 2007, respectively. The antigenic relationship, viral shedding, tissue tropism and genetic analysis were examined. The comparison of virus shedding from the cloaca and the oropharynx revealed that both isolates were more frequently isolated from the upper respiratory tract (90~100%) 1 day post inoculation (DPI) compared with isolation 5 DPI from gastrointestinal tracts (10~60%). Moreover, the isolate KBNP-0028 were recovered from all organs including bone marrow, brain and kidneys, indicating higher ability for broad tissue dissemination than that of SNU 8011. KBNP-0028 replicated earlier than other strains and with a higher titer than SNU 8011. In full-length nucleotide sequences of the NA gene and a partial sequence of the HA gene of SNU 8011, we found that there might be significant changes in tissue tropism, virus replication and genetic mutation in AIV H9N2 isolates.