• Title/Summary/Keyword: Genome Analysis

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Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis

  • Park, Soyoung;Koh, Youngil;Yoon, Sung-Soo
    • Genomics & Informatics
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    • v.11 no.1
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    • pp.34-37
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    • 2013
  • This study evaluated the effects of somatic mutations and single nucleotide polymorphisms (SNPs) on disease progression and tried to verify the two-hit theory in cancer pathogenesis. To address this issue, SNP analysis was performed using the UCSC hg19 program in 10 acute myeloid leukemia patients (samples, G1 to G10), and somatic mutations were identified in the same tumor sample using SomaticSniper and VarScan2. SNPs in KRAS were detected in 4 out of 10 different individuals, and those of DNMT3A were detected in 5 of the same patient cohort. In 2 patients, both KRAS and DNMT3A were detected simultaneously. A somatic mutation in IDH2 was detected in these 2 patients. One of the patients had an additional mutation in FLT3, while the other patient had an NPM1 mutation. The patient with an FLT3 mutation relapsed shortly after attaining remission, while the other patient with the NPM1 mutation did not suffer a relapse. Our results indicate that SNPs with additional somatic mutations affect the prognosis of AML.

Isolation, Restriction Mapping, and Promoter Sequence Analysis of an Isoperoxidase Gene from Korean-Radish, Raphanus sativus L.

  • Park, Jong-Hoon;Kim, Soung-Soo
    • BMB Reports
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    • v.29 no.1
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    • pp.52-57
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    • 1996
  • A specific DNA fragment from Korean radish (Raphanus sativus L.) was amplified by performing PCR with oligonucleotide primers which correspond to the highly conserved regions of plant peroxidases. The size of the PCR product was ca. 400 bp, as expected from the known plant peroxidase genes. Comparison of the nucleotide and deduced amino acid sequences of the PCR product to those of other plant peroxidase-encoding genes revealed that the amplified fragment corresponded to the highly conserved region I and III of plant peroxidases. By screening a genomic library of Korean radish using the amplified fragment as a probe, two positive clones, named prxK1 and prxK2, were isolated. Restriction mapping studies indicated that the 5.2 kb Sail fragment of the prxK1 clone and the 4.0 kb EcoRI fragment of the prxK2 clone encode separate isoperoxidase genes. Analyses of the promoter region of the prxK1 clone shows that putative CAAT box, CMT box, and TGA1b binding sequence (5' TGACGT) are present 718 bp upstream from the start codon.

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Production of taxadiene from cultured ginseng roots transformed with taxadiene synthase gene

  • Cha, Mi-Jeong;Shim, Sang-Hee;Kim, Sung-Hong;Kim, Ok-Tae;Lee, Se-Weon;Kwon, Suk-Yoon;Baek, Kwang-Hyun
    • BMB Reports
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    • v.45 no.10
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    • pp.589-594
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    • 2012
  • Paclitaxel is produced by various species of yew trees and has been extensively used to treat tumors. In our research, a taxadiene synthase (TS) gene from Taxus brevifolia was used to transform the roots of cultured ginseng (Panax ginseng C.A. Meyer) to produce taxadiene, the unique skeletal precursor to taxol. The TS gene was successfully introduced into the ginseng genome, and the de novo formation of taxadiene was identified by mass spectroscopy profiling. Without any change in phenotypes or growth difference in a TS-transgenic ginseng line, the transgenic TSS3-2 line accumulated $9.1{\mu}g$ taxadiene per gram of dry weight. In response to the treatment of methyl jasmonate for 3 or 6 days, the accumulation was 14.6 and $15.9{\mu}g$ per g of dry weight, respectively. This is the first report of the production of taxadiene by engineering ginseng roots with a taxadiene synthase gene.

Mouse genetics: Catalogue and scissors

  • Sung, Young Hoon;Baek, In-Jeoung;Seong, Je Kyung;Kim, Jin-Soo;Lee, Han-Woong
    • BMB Reports
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    • v.45 no.12
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    • pp.686-692
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    • 2012
  • Phenotypic analysis of gene-specific knockout (KO) mice has revolutionized our understanding of in vivo gene functions. As the use of mouse embryonic stem (ES) cells is inevitable for conventional gene targeting, the generation of knockout mice remains a very time-consuming and expensive process. To accelerate the large-scale production and phenotype analyses of KO mice, international efforts have organized global consortia such as the International Knockout Mouse Consortium (IKMC) and International Mouse Phenotype Consortium (IMPC), and they are persistently expanding the KO mouse catalogue that is publicly available for the researches studying specific genes of interests in vivo. However, new technologies, adopting zinc-finger nucleases (ZFNs) or Transcription Activator-Like Effector (TALE) Nucleases (TALENs) to edit the mouse genome, are now emerging as valuable and effective shortcuts alternative for the conventional gene targeting using ES cells. Here, we introduce the recent achievement of IKMC, and evaluate the significance of ZFN/TALEN technology in mouse genetics.

A novel model of THO/TREX loading onto target RNAs in metazoan gene expression

  • Hur, Junho K.;Chung, Yun Doo
    • BMB Reports
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    • v.49 no.7
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    • pp.355-356
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    • 2016
  • The THO/TREX complex consists of several conserved subunits and is required for mRNA export. In metazoans, THO/TREX binds a subset of mRNAs during RNA splicing, and facilitates their nuclear export. How THO/TREX selects RNA targets is, however, incompletely understood. In our recent study, we reported that THO is loaded onto Piwi-interacting RNA (piRNA) precursor transcripts independent of splicing, and facilitates convergent transcription in Drosophila ovary. The precursors are later processed into mature piRNAs, small noncoding RNAs that silence transposable elements (TEs). We observed that piRNAs originating from dual-strand clusters, where precursors are transcribed from both strands, were specifically affected by THO mutation. Analysis of THO-bound RNAs showed enrichment of dual-strand cluster transcripts. Interestingly, THO loading onto piRNA precursors was dependent on Cutoff (Cuff), which comprises the Rhino-Deadlock-Cutoff (RDC) complex that is recruited to dual-strand clusters by recognizing H3K9me3 and licenses convergent transcription from he cluster. We also found that THO mutation affected transcription from dual-strand clusters. Therefore, we concluded that THO/TREX is recruited to dual-strand piRNA clusters, independent of splicing events, via multi-protein interactions with chromatin structure. Then, it facilitates transcription likely by suppressing premature termination to ensure adequate expression of piRNA precursors.

Expression and Inheritance of bar Gene in Petunia hybrida Transformed with Agrobacterium (Petunia hybrida에 Agrobacterium으로 도입된 bar Gene의 발현과 후대검정)

  • Ha, Young-Min;Kim, Jong-Chul;Lee, Sang-Woo;Lee, Shin-Woo;Kim, Zhoo-Hyeon
    • Journal of Plant Biotechnology
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    • v.30 no.2
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    • pp.143-149
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    • 2003
  • This experiment was carried out to confirm the stability of bar gene introduced into petunia plant through Agrobacerium-mediated transformation. Twenty-five transgenic plants T$_{0}$ plants, back cross (BC$_1$) populations to wild type and F$_1$plants between different T$_{0}$ plants were prepared, and polymerase chain reaction(PCR), PCR-Southern blot analysis, and field test with 0.1% Basta treatment were done. The results of PCR, PCR-Southern blot hybridization, and field test indicated that NPTII and bar gene introduced into the genome of petuina plants were stably transmitted to their progenies, and conferred the plants resistance to herbicide, Basta.sta.

Promoter Activity of the Long Terminal Repeats of Porcine Endogenous Retroviruses of the Korean Domestic Pig

  • Ha, Hong-Seok;Huh, Jae-Won;Kim, Dae-Soo;Kang, Dong-Woo;Cho, Byung-Wook;Kim, Heui-Soo
    • Molecules and Cells
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    • v.24 no.1
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    • pp.148-151
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    • 2007
  • Porcine endogenous retroviruses (PERVs) in the pig genome represent a potential risk of infection in pig-to-human transplantation and are transmitted vertically. The solitary long terminal repeat (LTR) elements of the PERVs affect the replication properties of the individual viruses via their repeat sequences and by encoding a set of specific transcription factors. We examined the promoter activities of solitary LTR elements belonging to the PERV-A and -B families of the Korean domestic pig (KDP) using luciferase reporters. Three of the LTR structures (of PERV-A5-KDP, PERV-A7-KDP, PERV-A8-KDP) had different promoter activities in human HCT116 cells and monkey Cos7 cells, and potential negatively and positively acting regions affecting transcription were identified by deletion analysis. These data suggest that specific sequences in the U3 region of a given LTR element can affect the activities of promoter or enhancer elements in the PERV.

Evolutionary history of the monospecific Compsopogon genus (Compsopogonales, Rhodophyta)

  • Nan, Fangru;Feng, Jia;Lv, Junping;Liu, Qi;Xie, Shulian
    • ALGAE
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    • v.31 no.4
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    • pp.303-315
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    • 2016
  • Compsopogon specimens collected in China were examined based on morphology and DNA sequences. Five molecular markers from different genome compartments including rbcL, COI, 18S rDNA, psbA, and UPA were identified and used to construct a phylogenetic relationship. Phylogenetic analyses indicated that two different morphological types from China clustered into an independent clade with Compsopogon specimens when compared to other global samples. The Compsopogon clade exhibited robust support values, revealing the affiliation of the samples to Compsopogon caeruleus. Although the samples were distributed in a close geographical area, unexpected sequence divergences between the Chinese samples implied that they were introduced by different dispersal events and from varied origins. It was speculated that Compsopogon originated in North America, a portion of the Laurentia landmass situated in the Rodinia supercontinent at approximately 573.89-1,701.50 million years ago during the Proterozoic era.Although Compsopogonhad evolved for a rather long time, genetic conservation had limited its variability and rate of evolution, resulting in the current monospecific global distribution. Additional global specimens and sequence information were required to increase our understanding of the evolutionary history of this ancient red algal lineage.

Effects of Menstrual Cycle on Heart Rate Variability in Dysmenorrhea Patients (월경통 환자의 월경주기에 따른 심박변이도(Heart Rate Variability) 차이에 대한 고찰)

  • Kim, Eun-Sook;Moon, Seung-Joon;Cho, Han-Baek;Lim, Eun-Mee;Ko, Seong-Gyu;Cho, Jung-Hoon
    • The Journal of Korean Obstetrics and Gynecology
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    • v.23 no.2
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    • pp.124-130
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    • 2010
  • Purpose: The aim of the study was to investigate menstrual cycle phase differences in Heart Rate Variability(HRV) in dysmenorrhea patients. Methods: 16 dysmenorrhea patients were enrolled. The severity of dysmenorrhea was measured by Visual Analog Scale(VAS). Recordings for HRV analysis were obtained during the two phases of the menstrual cycle (follicular phase 4~10 days and luteal phase 18~23 days from the start of bleeding). Results: No measure of HRV was significantly different between two menstrual cycle phases. Conclusion: We concluded that menstrual cycle was not significantly associated with changes in autonomic nervous system as measured by HRV in dysmenorrhea patients.

Perenniality-Potential and challenges for future sustainable crop production

  • Paterson, Andrew
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.11-11
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    • 2017
  • The most drought resistant among the five most important cereal crops, and a key dual-use (grain and biomass) crop in regions containing some of the world's most degraded soils, sorghum has inherent climate resilience that is likely to become more important under environmental conditions that are projected by many climate change models. The importance of sorghum might be further elevated by the development of productive genotypes that increase the extent and duration of soil cover beyond those of conventional annual crops, mitigating or even reversing losses of ecological capital through multiple crops from single plantings. Rich genetic and genomic resources have been developed to link Sorghum phenotypic diversity to its molecular basis, and in particular the genus has become a model for dissecting the molecular control of perenniality. Nature has made Sorghum perennial at least twice, and crosses between wild perennials and cultivated sorghums show the feasibility of developing genotypes with varying degrees of investment in perenniality while still providing harvestable food, feed, sugar and/or cellulose. Genetic analysis of progeny from these crosses is revealing the hereditary basis of traits related to ratooning and perenniality and providing diagnostic DNA markers. One perennial Sorghum species has adapted to continents and latitudes far beyond the reach of its progenitors, surviving stresses year after year that are only periodically experienced by conventional (annual) sorghum, and may also harbor novel alleles that may mitigate production challenges in conventional annual sorghums.

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