• Title/Summary/Keyword: de novo

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Transposable Elements: No More 'Junk DNA'

  • Kim, Yun-Ji;Lee, Jungnam;Han, Kyudong
    • Genomics & Informatics
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    • v.10 no.4
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    • pp.226-233
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    • 2012
  • Since the advent of whole-genome sequencing, transposable elements (TEs), just thought to be 'junk' DNA, have been noticed because of their numerous copies in various eukaryotic genomes. Many studies about TEs have been conducted to discover their functions in their host genomes. Based on the results of those studies, it has been generally accepted that they have a function to cause genomic and genetic variations. However, their infinite functions are not fully elucidated. Through various mechanisms, including de novo TE insertions, TE insertion-mediated deletions, and recombination events, they manipulate their host genomes. In this review, we focus on Alu, L1, human endogenous retrovirus, and short interspersed element/variable number of tandem repeats/Alu (SVA) elements and discuss how they have affected primate genomes, especially the human and chimpanzee genomes, since their divergence.

A Case of Sliding Hiatal Hernia associated with Bochdalek Hernia Repair (선천성 횡격막 탈장증 교정 후 발견된 활주형 탈장 1예)

  • Nam, Seck-Jin;Kim, Hyun-Hahk;Lee, Suk-Koo
    • Advances in pediatric surgery
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    • v.2 no.2
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    • pp.129-132
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    • 1996
  • This is a case report of a sliding hiatal hernia with severe gastroesophageal reflux(GER) after repair of congenital diaphragmatic hernia(CDH). It was not possible to determine whether the hiatal hernia is a de novo lesion which was missed at the original operation or a consequence of overzealous repair of the Bochdalek defect at the expense of weakening of the diaphragmatic crura. This case demonstrates that a sliding hiatal hernia can be a cause of severe gastroesophageal reflux that should be managed surgically.

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A case of partial trisomy 3p syndrome with rare clinical manifestations

  • Han, Dong-Hoon;Chang, Ji-Young;Lee, Woo-In;Bae, Chong-Woo
    • Clinical and Experimental Pediatrics
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    • v.55 no.3
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    • pp.107-110
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    • 2012
  • Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

Clustering Approaches to Identifying Gene Expression Patterns from DNA Microarray Data

  • Do, Jin Hwan;Choi, Dong-Kug
    • Molecules and Cells
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    • v.25 no.2
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    • pp.279-288
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    • 2008
  • The analysis of microarray data is essential for large amounts of gene expression data. In this review we focus on clustering techniques. The biological rationale for this approach is the fact that many co-expressed genes are co-regulated, and identifying co-expressed genes could aid in functional annotation of novel genes, de novo identification of transcription factor binding sites and elucidation of complex biological pathways. Co-expressed genes are usually identified in microarray experiments by clustering techniques. There are many such methods, and the results obtained even for the same datasets may vary considerably depending on the algorithms and metrics for dissimilarity measures used, as well as on user-selectable parameters such as desired number of clusters and initial values. Therefore, biologists who want to interpret microarray data should be aware of the weakness and strengths of the clustering methods used. In this review, we survey the basic principles of clustering of DNA microarray data from crisp clustering algorithms such as hierarchical clustering, K-means and self-organizing maps, to complex clustering algorithms like fuzzy clustering.

De Novo Design and Their Antimicrobial Activity of Stapled Amphipathic Helices of Heptapeptides

  • Dinh, Thuy T.T.;Kim, Do-Hee;Lee, Bong-Jin;Kim, Young-Woo
    • Bulletin of the Korean Chemical Society
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    • v.35 no.12
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    • pp.3632-3636
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    • 2014
  • In this study we designed and synthesized several heptapeptides that are enforced to form an amphipathic helix using all-hydrocarbon stapling system and evaluated their antimicrobial and hemolytic activities. The antimicrobial activity showed clear structure-activity relationships, confirming the importance of helicity and amphipathicity. Some stapled heptapeptides displayed a moderate antimicrobial activity along with a low hemolytic activity. To our best knowledge, although not highly potent, these stapled peptides represent the shortest helical amphipathic antimicrobial peptides reported to date. The preliminary data obtained in this work would serve as a good starting point for further developing short analogs of amphipathic helical antimicrobial peptides.

An Optimized Strategy for Genome Assembly of Sanger/pyrosequencing Hybrid Data using Available Software

  • Jeong, Hae-Young;Kim, Ji-Hyun F.
    • Genomics & Informatics
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    • v.6 no.2
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    • pp.87-90
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    • 2008
  • During the last four years, the pyrosequencing-based 454 platform has rapidly displaced the traditional Sanger sequencing method due to its high throughput and cost effectiveness. Meanwhile, the Sanger sequencing methodology still provides the longest reads, and paired-end sequencing that is based on that chemistry offers an opportunity to ensure accurate assembly results. In this report, we describe an optimized approach for hybrid de novo genome assembly using pyrosequencing data and varying amounts of Sanger-type reads. 454 platform-derived contigs can be used as single non-breakable virtual reads or converted to simpler contigs that consist of editable, overlapping pseudoreads. These modified contigs maintain their integrity at the first jumpstarting assembly stage and are edited by fragmenting and rejoining. Pre-existing assembly software then can be applied for mixed assembly with 454-derived data and Sanger reads. An effective method for identifying genomic differences between reference and sample sequences in whole-genome resequencing procedures also is suggested.

A Concentration-function Basis for Ideal Vitamin C Intake

  • Kwon, Oran;Levine, Mark
    • Proceedings of the Korean Nutrition Society Conference
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    • 2002.11b
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    • pp.1157-1168
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    • 2002
  • Vitamin C is an essential nutrient involved in many functions. Humans are unable to synthesize vitamin C de novo, because they lack the last enzyme in the biosynthetic pathway. Previous Recommended Dietary Allowances (RDAs) for vitamin C were based on prevention of deficiency with a margin of safety. However preventing deficiency may not be equivalent to ideal nutrient intake. Recommendation should be based on vitamin function in relation to concentration. For this goal, data set of the relationship between wide-range of vitamin C dose and resulting concentrations in plasma and tissues and characterization of functional outcomes in relation to these concentrations should be acquired. This article reviews the current knowledge in these areas and suggest how this knowledge may contribute toward establishing dietary guideline for ideal vitamin C intake.

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Molecular Regulation of Pyrimidine Nucleotide Synthesis in Bacterial Genomes

  • Ghim, Sa-Youl
    • Proceedings of the Korean Society for Applied Microbiology Conference
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    • 2001.06a
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    • pp.165-168
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    • 2001
  • Regulation of pyrimidine nucleotide synthesis has been studied extensively in enteric bacteria and Bacillus species. Varieties of control modes have been proposed for regulation of pyrimidine nucleotide biosynthetic (pyr) genes. In Bacillus caldolyticus and B. subtilis, it has been proved that pyrimidine de novo biosynthetic operon is controlled by a regulatory protein PyrR-mediated attenuation. Another Gram-positive bacteria including Enterococcus faecalis, Lactobacillus plantarum, and wctococcus lactis have been found to constitute a pyr gene cluster containing the pyrR gene. In addition, it has been proposed that the structure of the 5' leader region of the Gram-negative extreme thermophile Thermus strain Z05 pyr operon provides a novel mechanism of PyrR-dependent coupled transcription-translation attenuation. Bacterial genome sequencing projects have identified the PyrR homologues in Haemophilus influenzae, Synechocystis sp., Mycobacterium tuberculosis, Streptococcus pneumoniae, S. pyogenes, and Clostridium acetobutylicum, which are currently investigating for their physiological functions.

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Secretion of the cloned serratia marcescens nuclease in escherichia coli (Serratia marcescens nuclease의 escherichia coli에서의 분비)

  • 신용철;이상열;김기석
    • Korean Journal of Microbiology
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    • v.28 no.4
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    • pp.297-303
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    • 1990
  • Secretion of Serratia marcescens nuclease by E. coli harboring pNUC4 was investigated. 29.2, 54.2 and 16.6% of total nuclease were observed in culture medium, periplasm, and cytoplasm of E. coli, respectively. To investigate the secretion mechanism of Serratia nuclease by E. coli, secretion kinetics of nuclease was examined in the presences of sodium azide, and energy metabolism inhibitor; procaine, an exoprotein processing inhibitor; and chloramphenicol, a protein synthesis inhibitor. In the presence of sodium azide, periplasmic unclease was gradually decreased and the extracellular nyclease was linearly increased according to the incubation time. Similar results were obtained in presences of procaine and chloramphenicol. From these results, we concluded that two transport processes are involved in nuclease secretion: secretion of nuclease through the inner membrane is occurred by an energy-dependent process and probably requiring precusor processing: secretion of nuclease through outer membrane does not require energy, de novo protein synthesis, and precursor processing.

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Porocarcinoma Arising in a Ganglion Cyst: A Case Report and Review of the Literature

  • Park, Ie Hyon;Kim, Tae Hoon;Kwon, Sung Tack;Park, Ji Ung
    • Archives of Reconstructive Microsurgery
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    • v.25 no.2
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    • pp.56-59
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    • 2016
  • Eccrine porocarcinoma is a rare malignant neoplasm of the eccrine sweat gland that often occurs in the lower extremities, and usually affects elderly individuals. Most cases of eccrine porocarcinoma arise de novo. We encountered a case of a large porocarcinoma arising in a pre-existing ganglion cyst in the knee. The malignant tumor was excised widely, and the defect was reconstructed using a free anterolateral thigh flap.