• Title/Summary/Keyword: terminal region

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Unbalanced translocation der(8)t(8:13)(p23.3;q32.1)dn identified by array CGH and subtelomeric FISH in a patient with mental retardation (선천성 정신지체가 있는 der(8)t(8;13)(p23.3;q32.1) 핵형의 성인여성)

  • Lee, Soo-Min;Lee, Dong-Suk;Jeong, Hyun-Ah;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.65-68
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    • 2008
  • Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year-old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.

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FISH Karyotype Analysis of Seven Rose Cultivars (주요 장미 7품종의 FISH 핵형분석)

  • Hwang, Yoon-Jung;Han, Tae Ho;Martin, Cathie;Lim, Ki-Byung
    • Horticultural Science & Technology
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    • v.30 no.5
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    • pp.568-572
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    • 2012
  • Determination of ploidy level for the mother plant is prerequisite for effective breeding. The study was carried out to determine the ploidy level in 7 different plant materials by FISH karyotype analysis. Among the seven plant varieties analyzed, all exhibit tetraploid (2n = 4x = 28) based on the results observed in chromosome analysis. Four signals of 45S rDNAs were detected on the terminal region of the short arm of chromosome 7. The length of somatic metaphase chromosomes ranges from 1.67 to $2.67{\mu}m$ in 'Alexandra', 1.40 to $2.04{\mu}m$ in 'Freud', 1.64 to 2.24 in 'Little Silver', 1.69 to $2.26{\mu}m$ in 'Teresa', 1.70 to $2.65{\mu}m$ in 'Tineke', 1.35 to $2.08{\mu}m$ in 'Vital', 1.39 to $2.04{\mu}m$ in 'Yellow Mimi'. Total length of the chromosome ranges from $11.23{\mu}m$ in 'Freud' as minimum to $15.05{\mu}m$ in 'Alexandra' as maximum. The karyotypes were composed of metacentric, submetacentric, and subtelocentric chromosome but there is no subtelocentric chromosome.

Genetic Diversity and Natural Selection in 42 kDa Region of Plasmodium vivax Merozoite Surface Protein-1 from China-Myanmar Endemic Border

  • Zhou, Xia;Tambo, Ernest;Su, Jing;Fang, Qiang;Ruan, Wei;Chen, Jun-Hu;Yin, Ming-Bo;Zhou, Xiao-Nong
    • Parasites, Hosts and Diseases
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    • v.55 no.5
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    • pp.473-480
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    • 2017
  • Plasmodium vivax merozoite surface protein-1 (PvMSP1) gene codes for a major malaria vaccine candidate antigen. However, its polymorphic nature represents an obstacle to the design of a protective vaccine. In this study, we analyzed the genetic polymorphism and natural selection of the C-terminal 42 kDa fragment within PvMSP1 gene ($PvMSP1_{42}$) from 77 P. vivax isolates, collected from imported cases of China-Myanmar border (CMB) areas in Yunnan province and the inland cases from Anhui, Yunnan, and Zhejiang province in China during 2009-2012. Totally, 41 haplotypes were identified and 30 of them were new haplotypes. The differences between the rates of non-synonymous and synonymous mutations suggest that $PvMSP1_{42}$ has evolved under natural selection, and a high selective pressure preferentially acted on regions identified of $PvMSP1_{33}$. Our results also demonstrated that $PvMSP1_{42}$ of P. vivax isolates collected on China-Myanmar border areas display higher genetic polymorphisms than those collected from inland of China. Such results have significant implications for understanding the dynamic of the P. vivax population and may be useful information towards China malaria elimination campaign strategies.

Latent mobility pattern analysis of bus passengers with LDA (LDA 기법을 이용한 버스 승객의 잠재적 이동패턴 분석)

  • Cho, Ah;Lee, Kyung Hee;Cho, Wan Sup
    • Journal of the Korean Data and Information Science Society
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    • v.26 no.5
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    • pp.1061-1069
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    • 2015
  • Recently, transportation big data generated in the transportation sector has been widely used in the transportation policies making and efficient system management. Bus passengers' mobility patterns are useful insight for transportation policy maker to optimize bus lines and time intervals in a city. We propose a new methodology to discover mobility patterns by using transportation card data. We first estimate the bus stations where the passengers get-off because the transportation card data don't have the get-off information in most cities. We then applies LDA (Latent Dirichlet Allocation), the most representative topic modeling technique, to discover mobility patterns of bus passengers in Cheong-Ju city. To understand discovered patterns, we construct a data warehouse and perform multi-dimensional analysis by bus-route, region, time-period, and the mobility patterns (get-on/get-off station). In the case of Cheong Ju, we discovered mobility pattern 1 from suburban area to Cheong-Ju terminal, mobility pattern 2 from residential area to commercial area, mobility pattern 3 from school areas to commercial area.

Cloning and Characterization of an Endoglucanase Gene from Actinomyces sp. Korean Native Goat 40

  • Kim, Sung Chan;Kang, Seung Ha;Choi, Eun Young;Hong, Yeon Hee;Bok, Jin Duck;Kim, Jae Yeong;Lee, Sang Suk;Choi, Yun Jaie;Choi, In Soon;Cho, Kwang Keun
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.1
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    • pp.126-133
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    • 2016
  • A gene from Actinomyces sp. Korean native goat (KNG) 40 that encodes an endo-${\beta}$-1,4-glucanase, EG1, was cloned and expressed in Escherichia coli (E. coli) $DH5{\alpha}$. Recombinant plasmid DNA from a positive clone with a 3.2 kb insert hydrolyzing carboxyl methyl-cellulose (CMC) was designated as pDS3. The entire nucleotide sequence was determined, and an open-reading frame (ORF) was deduced. The ORF encodes a polypeptide of 684 amino acids. The recombinant EG1 produced in E. coli $DH5{\alpha}$ harboring pDS3 was purified in one step using affinity chromatography on crystalline cellulose and characterized. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis/zymogram analysis of the purified enzyme revealed two protein bands of 57.1 and 54.1 kDa. The amino terminal sequences of these two bands matched those of the deduced ones, starting from residue 166 and 208, respectively. Putative signal sequences, a Shine.Dalgarno-type ribosomal binding site, and promoter sequences related to the consensus sequences were deduced. EG1 has a typical tripartite structure of cellulase, a catalytic domain, a serine-rich linker region, and a cellulose-binding domain. The optimal temperature for the activity of the purified enzyme was $55^{\circ}C$, but it retained over 90% of maximum activity in a broad temperature range ($40^{\circ}C$ to $60^{\circ}C$). The optimal pH for the enzyme activity was 6.0. Kinetic parameters, $K_m$ and $V_{max}$ of rEG1 were 0.39% CMC and 143 U/mg, respectively.

Osteonectin Interacts with Human Nebulin C-terminus in Skeletal Muscle

  • Park, Eun-Ran;Kim, Hyun-Suk;Choi, Jun-Hyuk;Lee, Yeong-Mi;Choi, Jae-Kyoung;Joo, Young-Mi;Ahn, Seung-Ju;Min, Byung-In;Kim, Chong-Rak
    • Biomedical Science Letters
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    • v.13 no.4
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    • pp.263-272
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    • 2007
  • Nebulin is a giant actin binding protein (600-900 kDa) which is specific to skeletal muscle. This protein is known to regulate thin filaments length in sarcomere as a molecular template. The C-terminus of nebulin is located in the Z-disc of muscle sarcomere and is bound to other proteins such like myopalladin, titin, archvillin, and desmin. The N-terminus of nebulin binds to tropomodulin at the pointed ends of the thin filaments. In recent research, nebulin not only found in brain but also expressed in heart, stomach, and liver. So, the roles of nebulin in non-muscle tissue have been studied. However, lack of information or studies on nebulin binding proteins and nebulin function in brain are available so far. Therefore, the current study have investigated a novel binding partner of Nebulin C-terminus by using yeast two-hybrid screening with human brain cDNA library. Nebulin C-terminus, containing simple repeats, serine rich and SH3 domain, interacts with osteonectin C-terminal region. The specific interaction of nebulin and osteonectin were confirmed in vitro by using GST pull-down assay and reconfirmed in vivo by using transfected COS-7 cells with EGFP-tagged nebulin and DsRed-tagged osteonectin. Consequently, this study identified SH3 domain in nebulin C-terminus specifically binds to extracellular Ca-binding (EeC domain in osteonectin. Also, nebulin C-terminus fusion protein colocalized with osteonectin EC domain fusion protein in transfected COS-7 cells. The current study found the interaction between nebulin and osteonectin in human brain for the first time and suggested the nebulin in brain may be associated with osteonectin, as a regulator of cell cycle progression and mitosis.

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Point Mutations in the Split PLC-γ1 PH Domain Modulate Phosphoinositide Binding

  • Kim, Sung-Kuk;Wee, Sung-Mo;Chang, Jong-Soo;Kwon, Taeg-Kyu;Min, Do-Sik;Lee, Young-Han;Suh, Pann-Ghill
    • BMB Reports
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    • v.37 no.6
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    • pp.720-725
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    • 2004
  • A number of signaling molecules contain small pleckstrin homology (PH) domains capable of binding phosphoinositides or proteins. Phospholipase C (PLC)-${\gamma}1$ has two putative PH domains, an $NH_2$-terminal (PH1) and a split PH domain ($nPH_2$ and $cPH_2$). We previously reported that the split PH domain of PLC-${\gamma}1$ binds to phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 4,5-bisphosphate (PI(4,5)$P_2$) (Chang et al., 2002). To identify the amino acid residues responsible for binding with PI(4)P and PI(4,5)$P_2$, we used site-directed mutagenesis to replace each amino acid in the variable loop-1 (VL-1) region of the PLC-${\gamma}1$ $nPH_2$ domain with alanine (a neutral amino acid). The phosphoinositide-binding affinity of these mutant molecules was analyzed by Dot-blot assay followed by ECL detection. We found that two PLC-${\gamma}1$ nPH2 domain mutants, P500A and H503A, showed reduced affinities for phosphoinositide binding. Furthermore, these mutant PLC-${\gamma}1$ molecules showed reduced PI(4,5)$P_2$ hydrolysis. Using green fluorescent protein (GFP) fusion protein system, we showed that both $PH_1$ and $nPH_2$ domains are responsible for membrane-targeted translocation of PLC-${\gamma}1$ upon serum stimulation. Together, our data reveal that the amino acid residues $Pro^{500}$ and $His^{503}$ are critical for binding of PLC-${\gamma}1$ to one of its substrates, PI(4,5)$P_2$ in the membrane.

Molecular Identification and Sequence Analysis of Coat Protein Gene of Ornithogalum mosaic virus Isolated from Iris Plant

  • Yoon, Hye-In;Ryu, Ki-Hyun
    • The Plant Pathology Journal
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    • v.18 no.5
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    • pp.251-258
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    • 2002
  • A potyvirus was isolated from cultivated Iris plants showing leaf streak mosaic symptom. Reverse transcription and polymerase chain reaction (RT-PCR) product of 1 kb long which encoded partial nuclear inclusion B and N-terminal region of viral coat protein (CP) genes for potyviruses was successfully amplified with a set of potyvirus-specific degenerate primers with viral RNA samples from the infected leaves: The RT-PCR product was cloned into the plasmid vector and its nucleotide sequences were determined. The nucleotide sequence of a CDNA clone revealed that the virus was an isolate of Ornithogalum moseic virus (OrMV) based on BLAST search analysis and was denoted as OrMV Korean isolate (OrMV-Ky). To further characterize the CP gene of the virus, a pair of OrMV-specific primers was designed and used for amplification of the entire CP gene of OrMV-Kr, The virus was easily and reliably detected from virus-infected Iris leaves by using the RT-PCR with the set of virus-specific primers. The RT-PCR product of the CP gene of the virus was cloned and its sequences were determined from selected recombinant CDNA clones. Sequence analysis revealed that the CP of OrMV-Kr consisted of 762 nucleotides, which encoded 253 amino acid residues. The CP of OrMV-Ky has 94.1-98.0% amino acid sequence identities (20 amino acid alterations) with that of other three isolates of OrMV, Two NT rich potential N-glycosylation motif sequences, NCTS and NWTM, and a DAC triple box responsible for aphid transmission were conserved in CPs of all the strains of OrMV. The virus has 58.5-86.2% amino acid sequence identities with that of other 16 potyviruses, indicating OrMV to be a distinct species of the genus. OrMV-Ky was the most related with Pterostylia virus Yin the phylogenetic tree analysis of CP at the amino acid level. This is the first report on the occurrence of OrMV in Iris plants in Korea. Data in this study indicate that OrMV is found in cultivated Iris plants, and may have mixed infection of OrMV and Iris severe mosaic virus in Korea.

Perception and Knowledge of Hospice Care and Attitude toward Death Held by Medical Professionals from the Same Region in Korea (호스피스·완화의료에 대한 인식 및 지식 그리고 죽음에 대한 태도: 일개 지역에서의 의료인을 대상으로)

  • Lee, Young Eun;Choi, Eun Joung;Park, Joung Suk;Shin, Seong Hoon
    • Journal of Hospice and Palliative Care
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    • v.16 no.4
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    • pp.242-252
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    • 2013
  • Purpose: The purpose of this study was to examine medical professionals' perception and knowledge of hospice and palliative care (HPC) and attitude toward death. Methods: The survey was performed on 84 physicians and 172 nurses in Busan, Korea. Data were collected from April 5, 2012 to April 30, 2012. Results: Regarding the purpose of HPC, the most popular perception was "To alleviate pain and accommodate comfort" among both physicians and nurses. For the need for HPC, "Terminal patients need a separate ward for emotional fluctuation" the answer chosen by both groups the most. Both groups scored low on knowledge of HPC. For pain and symptom management, physicians scored higher than nurses (physicians: $6.97{\pm}1.82$, nurses: $5.68{\pm}1.93$, P<0.001). Conclusion: Considering the survey results, we suggest development of a program to improve medical professionals' perception and knowledge of HPC and attitude toward death.

Analysis of Protein Domain for Interaction between α-COP and ε-COP in Aspergillus nidulans (Aspergillus nidulans 분비소낭 구성요소인 α-COP과 ε-COP의 결합 부위 분석)

  • Song, Eun-Jung;Kim, Ki-Hyun;Lee, Hwan-Hee;Park, Jeong-Seok;Kang, Eun-Hye;Park, Hee-Moon
    • The Korean Journal of Mycology
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    • v.40 no.4
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    • pp.224-228
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    • 2012
  • In order to screen interactor(s) of the Aspergillus nidulans ${\alpha}$-COP of COPI vesicle, we performed the yeast two hybrid screening by using the gene for A. nidulans ${\alpha}$-COP as a bait and identified ${\varepsilon}$-COP of the COPI vesicle as an interacting protein. The A. nidualns gene for the ${\varepsilon}$-COP was designated $aneA^+$ ($\underline{A.}$ $\underline{n}$idulans $\underline{e}$psi-lone-COP), which encoded 296 amino acid residues with high level of identity with orthologs from other fungi. Domain analyses with yeast two-hybrid system suggested that the interaction between ${\alpha}$-COP and ${\varepsilon}$-COP relied on the C-terminus of both proteins, and that the N-terminal WD domian of ${\alpha}$-COP and the TPR region of ${\varepsilon}$-COP were not essential but required for the enhancement of the interaction. These results indicate that the interaction mode between ${\alpha}$-COP and ${\varepsilon}$-COP of COPI vesicle is evolutionarily well conserved in eukaryotes.