• Title/Summary/Keyword: Deletion

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Association between the Alu Insertion/Deletion Polymorphism in the Tissue-Type Plasminogen Activator Gene and Mirtazapine Response in Koreans with Major Depression

  • Kim, Daseul;Chang, Hun Soo;Won, Eunsoo;Ham, Byung-Joo;Lee, Min-Soo
    • Korean Journal of Biological Psychiatry
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    • v.23 no.4
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    • pp.140-147
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    • 2016
  • Objectives To determine the relationship between the Alu insertion/deletion (I/D) polymorphism in the tissue-type plasminogen activator (tPA) gene and the clinical outcome of mirtazapine treatment in Korean major depressive disorder (MDD) patients. Methods We enrolled 422 patients in this study. Symptoms were evaluated using the 21-item Hamilton Depression Rating (HAMD-21) Scale. After 1, 2, 4, and 8 weeks of mirtazapine treatment, the association between the Alu I/D polymorphism in the tPA gene and remission/response outcomes were evaluated. Results The proportion of I/I homozygotes in responders was higher than that in non-responders, whereas the proportion of D/D homozygotes in responders was lower than that in non-responders at 8 weeks of treatment (p = 0.032, OR = 1.57). The percentage decline of HAMD-21 scores in I allele carriers was larger than that of D/D homozygotes at 2 and 8 weeks of treatment (p = 0.035 and 0.007, respectively). I allele carriers were associated with remission at 8 weeks of treatment (p = 0.047, OR = 2.2). Conclusions These results show that treatment response and remission to mirtazapine were associated with the Alu I/D polymorphism of the tPA gene. This suggests the Alu I/D polymorphism may be a potential genetic marker for the prediction of therapeutic response to mirtazapine treatment in patients with MDD.

Methylation Status of the O6-Methylguanine-Deoxyribonucleic Acid Methyltransferase Gene Promoter in World Health Organization Grade III Gliomas

  • Yang, Seung-Heon;Kim, Yong-Hwy;Kim, Jin-Wook;Park, Chul-Kee;Park, Sung-Hye;Jung, Hee-Won
    • Journal of Korean Neurosurgical Society
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    • v.46 no.4
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    • pp.385-388
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    • 2009
  • Objective : We analyzed the methylation status of the O6-methylguanine-DNA methyltransferase (MGMT) gene promoter in World Health Organization (WHO) grade III gliomas in association with other molecular markers to evaluate their prevalence. Methods : The samples of a total of 36 newly WHO grade III glioma patients including 19 anaplastic oligodendrogliomas (AO), 7 anaplastic oligoastrocytomas (AOA), and 10 anaplastic astrocytomas (AA) were analyzed. The methylation status of the MGMT gene promoter was confirmed by methylation-specific polymerase chain reaction. The 1p/19q chromosomal deletion status and EGFR amplification were assessed by Fluorescence In-Situ Hybridization. MGMT, EGFR, EGFRvlll, and p53 expression were analyzed by immunohistochemical staining. Results : The MGMT gene promoter was methylated in 32 (88.9%) and unmethylated in 4 (11.2%) Among them, all of the AO and AOA had methylated MGMT gene promoter without exception. Significant associations between MGMT gene promoter hypermethylation and 1p/19q deletion was observed (p=0.003). Other molecular markers failed to show significant associations between MGMT gene promoter statuses. Conclusion : There was extensive epigenetic silencing of MGMT gene in high grade gliomas with oligodendroglial component. Together with frequent 1p/19q co-deletion in oligodendroglial tumors, this may add plausible explanations supporting the relative favorable prognosis in oligodendroglial tumors compared with pure astrocytic tumors.

A Secure Deletion Method for NAND Flash File System (NAND 플래시 파일 시스템을 위한 안전 삭제 기법)

  • Lee, Jae-Heung;Oh, Jin-Ha;Kim, Seok-Hyun;Yi, Sang-Ho;Heo, Jun-Young;Cho, Yoo-Kun;Hong, Ji-Man
    • Journal of KIISE:Computing Practices and Letters
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    • v.14 no.3
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    • pp.251-255
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    • 2008
  • In most file systems, if a file is deleted, only the metadata of the file is deleted or modified and the file's data is still stored on the physical media. Some users require that deleted files no longer be accessible. This requirement is more important in embedded systems that employ flash memory as a storage medium. In this paper, we propose a secure deletion method for NAND flash file system and apply the method to YAFFS. Our method uses encryption to delete files and forces all keys of a specific file to be stored in the same block. Therefore, only one erase operation is required to securely delete a file. Our simulation results show that the amortized number of block erases is smaller than the simple encryption method. Even though we apply our method only to the YAFFS, our method can be easily applied to other NAND flash file systems.

Two cases of TSC2/PKD1 contiguous gene deletion syndrome

  • You, Jihye;Kang, Eungu;Kim, Yoonmyung;Lee, Beom Hee;Ko, Tae-Sung;Kim, Gu-Hwan;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.13 no.1
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    • pp.36-40
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    • 2016
  • Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

The Transcription Cofactor Swi6 of the Fusarium graminearum Is Involved in Fusarium Graminearum Virus 1 Infection-Induced Phenotypic Alterations

  • Son, Moonil;Lee, Yoonseung;Kim, Kook-Hyung
    • The Plant Pathology Journal
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    • v.32 no.4
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    • pp.281-289
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    • 2016
  • The transcription cofactor Swi6 plays important roles in regulating vegetative growth and meiosis in Saccharomyces cerevisiae. Functions of Swi6 ortholog were also characterized in Fusarium graminearum which is one of the devastating plant pathogenic fungi. Here, we report possible role of FgSwi6 in the interaction between F. graminearum and Fusarium graminearum virus 1 (FgV1) strain DK21. FgV1 perturbs biological characteristics of host fungi such as vegetative growth, sporulation, pigmentation, and reduction of the virulence (hypovirulence) of its fungal host. To characterize function(s) of FgSWI6 gene during FgV1 infection, targeted deletion, over-expression, and complementation mutants were generated and further infected successfully with FgV1. Deletion of FgSwi6 led to severe reduction of vegetative growth even aerial mycelia while over-expression did not affect any remarkable alteration of phenotype in virus-free isolates. Virus-infected (VI) FgSWI6 deletion isolate exhibited completely delayed vegetative growth. However, VI FgSWI6 over-expression mutant grew faster than any other VI isolates. To verify whether these different growth patterns in VI isolates, viral RNA quantification was carried out using qRT-PCR. Surprisingly, viral RNA accumulations in VI isolates were similar regardless of introduced mutations. These results provide evidence that FgSWI6 might play important role(s) in FgV1 induced phenotype alteration such as delayed vegetative growth.

Deletion Mutation of Pokeweed Antiviral Protein II Gene and Development of PVY-VN Resistant Tobacco Plants (미국자리공 항바이러스 단백질 II 유전자의 돌연변이 및 PVY-VN 저항성 담배식물체 생산)

  • 강신웅;이영기;박성원;한규웅;김선원;이종철;이청호
    • Journal of the Korean Society of Tobacco Science
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    • v.23 no.2
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    • pp.123-132
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    • 2001
  • In order to transform pokeweed antiviral protein cDNA to tobacco plant, total RNA was extracted from Phytolacca americana. PAP-II cDNA was synthesized from purified total RNA via RT-PCR and subcloned to recombinant vector pBluescript II SK-. 10 deletion mutant PAP-II cDNA fragments which were sequentially deleted from N-terminal by 90bp were synthesized from PAP-II cDNA except leading frame by PCR with primers designed in our laboratory. To select non-cytotoxic clone, pAc55M was constructed with yeast expression vector pAc55 and multicloning site(MCS). Sequentially deleted mutant PAP-II cDNAs were cloned on downstream of gall promoter of pAc55M. 6 non-cytotoxic deletion mutant PAP-II cDNA were selected. Selected cDNAs were cloned into plant expression vector pKGT101BH for transformation of these clones to plant through Agrobacterium tumefacience. After cloning, recombinant pKGT101BH carrying deleted mutant PAP-IIcDNA were transformed to Nicotiana tabacum cv. NC567. Transformed tobacco plants cultured on shooting and rooting media were transfered to green-house. About four weeks later, these plants were infected with physically infection using carborandum with PVY-VN strain. After 4 weeks, plants resistant to virus were selected , and seeds of these plants were gathered. Southern blot hybridization showed deleted fragments by 220bp and 420bp, so resistant ability of these plants is due to mutant PAP-II cDNA.

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Optimization of a microarray for fission yeast

  • Kim, Dong-Uk;Lee, Minho;Han, Sangjo;Nam, Miyoung;Lee, Sol;Lee, Jaewoong;Woo, Jihye;Kim, Dongsup;Hoe, Kwang-Lae
    • Genomics & Informatics
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    • v.17 no.3
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    • pp.28.1-28.9
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    • 2019
  • Bar-code (tag) microarrays of yeast gene-deletion collections facilitate the systematic identification of genes required for growth in any condition of interest. Anti-sense strands of amplified bar-codes hybridize with ~10,000 (5,000 each for up-and down-tags) different kinds of sense-strand probes on an array. In this study, we optimized the hybridization processes of an array for fission yeast. Compared to the first version of the array (11 ㎛, 100K) consisting of three sectors with probe pairs (perfect match and mismatch), the second version (11 ㎛, 48K) could represent ~10,000 up-/ down-tags in quadruplicate along with 1,508 negative controls in quadruplicate and a single set of 1,000 unique negative controls at random dispersed positions without mismatch pairs. For PCR, the optimal annealing temperature (maximizing yield and minimizing extra bands) was 58℃ for both tags. Intriguingly, up-tags required 3× higher amounts of blocking oligonucleotides than down-tags. A 1:1 mix ratio between up- and down-tags was satisfactory. A lower temperature (25℃) was optimal for cultivation instead of a normal temperature (30℃) because of extra temperature-sensitive mutants in a subset of the deletion library. Activation of frozen pooled cells for >1 day showed better resolution of intensity than no activation. A tag intensity analysis showed that tag(s) of 4,316 of the 4,526 strains tested were represented at least once; 3,706 strains were represented by both tags, 4,072 strains by up-tags only, and 3,950 strains by down-tags only. The results indicate that this microarray will be a powerful analytical platform for elucidating currently unknown gene functions.

An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

  • Kuroda, Shinnosuke;Usui, Kimitsugu;Mori, Kohei;Yasuda, Kengo;Asai, Takuo;Sanjo, Hiroyuki;Yakanaka, Hiroyuki;Takeshima, Teppei;Kawahara, Takashi;Hamanoue, Haruka;Kato, Yoshitake;Miyoshi, Yasuhide;Uemura, Hiroji;Iwasaki, Akira;Yumura, Yasushi
    • Clinical and Experimental Reproductive Medicine
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    • v.45 no.1
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    • pp.48-51
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    • 2018
  • We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule. On histopathology, nearly complete spermatogenesis was confirmed in almost every seminiferous tubule. To our knowledge, this is the first case report of b1/b3 deletion with a congenital bilateral absence of the vas deferens and almost normal spermatogenesis.

Control of Genes in TCA Cycle by fsrA Small RNA in Bacillus subtilis (바실러스 서브틸리스의 fsrA small RNA에 의한 TCA 회로의 유전자 조절)

  • Lee, Sang-Soo
    • The Journal of Natural Sciences
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    • v.19 no.1
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    • pp.57-64
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    • 2008
  • The fsrA gene in Bacillus subtilis has an analogous role of ryhB in E. coli and is controlled under fur, the iron regulator gene. At high concentration of iron the transcription of ryhB is repressed by fur and ryhB is transcribed under low concentration of iron. To spare iron produced ryhB small RNA represses the expression of sdhCDAB (succinate dehydrogenase). This study shows the growth rate of Bacillus subtilis strain of fur and fur/fsrA deletion mutants using organic acids of TCA cycle as carbon source. Mutant strain of fur does not grow well with succinate carbon source, but further deletion of fsrA regain to the growth of wild type strain. Also, nearly same results were observed with citrate and fumarate. These results are consistent to those of E. coli system. But fur and fur/fsrA deletion mutants grow well as much as the growth of wild type with malate carbon source. These results showed that upstream genes of succinate of TCA cycle are repressed by fsrA, but downstream of succinate are not repressed by fsrA.

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Negative Role of wblA in Response to Oxidative Stress in Streptomyces coelicolor

  • Kim, Jin-Su;Lee, Han-Na;Kim, Pil;Lee, Heung-Shick;Kim, Eung-Soo
    • Journal of Microbiology and Biotechnology
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    • v.22 no.6
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    • pp.736-741
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    • 2012
  • In this study, we analyzed the oxidative stress response of wblA ($\underline{w}$hi$\underline{B}$-$\underline{l}$ike gene $\underline{A}$, SCO3579), which was previously shown to be a global antibiotic down-regulator in Streptomyces coelicolor. Ever since a WblA ortholog named WhcA in Corynebacterium glutamicum was found to play a negative role in the oxidative stress response, S. coelicolor wblA has been proposed to have a similar effect. A wblA-deletion mutant exhibited a less sensitive response to oxidative stress induced by diamide present in solid plate culture. Using real-time RT-PCR analysis, we also compared the transcription levels of oxidative stress-related genes, including sodF, sodF2, sodN, trxB, and trxB2, between S. coelicolor wild type and a wblA-deletion mutant in the presence or absence of oxidative stress. Target genes were expressed higher in the wblA-deletion mutant compared with wild type, both in the absence and presence of oxidative stress. Moreover, expression of these target genes in S. coelicolor wild type was stimulated only in the presence of oxidative stress, suggesting that WblA plays a negative role in the oxidative stress response of S. coelicolor, similar to that of C. glutamicum WhcA, through the transcriptional regulation of oxidative stress-related genes.