• 제목/요약/키워드: deletion analysis

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Analysis of Mitochondrial DNA Mutation in hepatoma

  • Chung, Ku-Sun;Lee, Kyo-Young;Shim, Sang-In;Kim, Jin-Sun;Song, Eun-Sook
    • BMB Reports
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    • 제33권5호
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    • pp.417-421
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    • 2000
  • Mitochondrial DNA (mtDNA) mutation was investigated in a hepatoma patient using a polymerase chain reaction (PCR) and an in situ hybridization technique. Biotin-labeled probes for the subunit m of cytochrome c oxidase revealed differences in the in situ hybridization. A PCR assay using biopsied and microdissected tissues showed that common deletion (4,977 bp) was more pronounced in the cancer region than in the normal parts of the same patient. These results suggest that mtDNA deletion might be associated with tumorigenesis in hepatoma.

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MULTIPLE DELETION MEASURES OF TEST STATISTICS IN MULTIVARIATE REGRESSION

  • Jung, Kang-Mo
    • Journal of applied mathematics & informatics
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    • 제26권3_4호
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    • pp.679-688
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    • 2008
  • In multivariate regression analysis there exist many influence measures on the regression estimates. However it seems to be few of influence diagnostics on test statistics in hypothesis testing. Case-deletion approach is fundamental for investigating influence of observations on estimates or statistics. Tang and Fung (1997) derived single case-deletion of the Wilks' ratio, Lawley-Hotelling trace, Pillai's trace for testing a general linear hypothesis of the regression coefficients in multivariate regression. In this paper we derived more extended form of those measures to deal with joint influence among observations. A numerical example is given to illustrate the effect of joint influence on the test statistics.

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An Acoustical Study of Labiovelar Glide /w/ Followed by Labials (양순음 후행 양순전이음 /w/의 음향음성학적 연구)

  • Koo, Hee-San;Han, Hye-Seung
    • Speech Sciences
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    • 제6권
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    • pp.45-54
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    • 1999
  • The well-known tendency to delete the labiovelar glide /w/ in some special conditions in Korean was based on perceptual judgment. Among the studies which tried to identify this phenomenon, Silva(1991) and Kang(1997) discovered the important factors of /w/-deletion and tried to give phonological explanations in terms of the Obligatory Contour Principle (McCarthy 1986). This study uses acoustic experiments in order to examine the reality of this phenomenon and tries to explain it on the basis of spectrographic analysis. According to the experiment, it is observed that /w/ is neutralized rather than completely deleted. Therefore, this observation suggests that this phenomena be considered as the /w/-neutralization in the view of acoustic study, instead of the /w/-deletion.

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Operon Required for Fruiting Body Development in Myxococcus xanthus

  • Kim, Do-Hee;Chung, Jin-Woo;Hyun, Hye-Sook;Lee, Cha-Yul;Lee, Kyoung;Cho, Kyung-Yun
    • Journal of Microbiology and Biotechnology
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    • 제19권11호
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    • pp.1288-1294
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    • 2009
  • We have used mutational analysis to identity four genes, MXAN3553, MXAN3554, MXAN3555, and MXAN3556, constituting an operon that is essential for normal fruiting body development in Myxococcus xanthus. Deletion of MXAN3553, which encoded a hypothetical protein, resulted in delayed fruiting body development. MXAN3554 was predicted to encode a metallopeptidase, and its deletion caused fruiting body formation to fail. Inactivation of MXAN3555, which encoded a putative NtrC-type response regulator, resulted in delayed aggregation and a severe reduction in sporulation. Fruiting bodies also failed to develop with the deletion of MXAN3556, another gene encoding a hypothetical protein.

Influence Measures for a Test Statistic on Independence of Two Random Vectors

  • Jung Kang-Mo
    • Communications for Statistical Applications and Methods
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    • 제12권3호
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    • pp.635-642
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    • 2005
  • In statistical diagnostics a large number of influence measures have been proposed for identifying outliers and influential observations. However it seems to be few accounts of the influence diagnostics on test statistics. We study influence analysis on the likelihood ratio test statistic whether the two sets of variables are uncorrelated with one another or not. The influence of observations is measured using the case-deletion approach, the influence function. We compared the proposed influence measures through two illustrative examples.

A Large Genomic Deletion in Gibberella zeae Causes a Defect in the Production of Two Polyketides but not in Sexual Development or Virulence

  • Lee Sun-Hee;Kim Hee-Kyoung;Hong Sae-Yeon;Lee Yin-Won;Yun Sung-Hwan
    • The Plant Pathology Journal
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    • 제22권3호
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    • pp.215-221
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    • 2006
  • Gibberella zeae (anamorph: Fusarium graminearum) is an important pathogen of cereal crops. This fungus produces a broad range of secondary metabolites, including polyketides such as aurofusarin (a red pigment) and zearalenone (an estrogenic mycotoxin), which are important mycological characteristics of this species. A screen of G. zeae insertional mutants, generated using a restriction enzyme-mediated integration (REMI) procedure, led to the isolation of a mutant (Z43R606) that produced neither aurofusarin nor zearalenone yet showed normal female fertility and virulence on host plants. Outcrossing analysis confirmed that both the albino and zearalenone-deficient mutations are linked to the insertional vector in Z43R606. Molecular characterization of Z43R606 revealed a deletion of at least 220 kb of the genome at the vector insertion site, including the gene clusters required for the biosynthesis of aurofusarin and zearalenone, respectively. A re-creation of the insertional event of Z43R606 in the wild-type strain demonstrated that the 220-kb deletion is responsible for the phenotypic changes in Z43R606 and that a large region of genomic DNA can be efficiently deleted in G. zeae by double homologous recombination. The results showed that 52 putative genes located in the deleted genomic region are not essential for phenotypes other than the production of both aurofusarin and zearalenone. This is the first report of the molecular characterization of a large genomic deletion in G. zeae mediated by the REMI procedure.

The effect of word frequency on the reduction of English CVCC syllables in spontaneous speech

  • Kim, Jungsun
    • Phonetics and Speech Sciences
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    • 제7권3호
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    • pp.45-53
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    • 2015
  • The current study investigated CVCC syllables in spontaneous American English speech to find out whether such syllables are produced as phonological units with a string of segments, showing a hierarchical structure. Transcribed data from the Buckeye Speech Corpus was used for the analysis in this study. The result of the current study showed that the constituents within a CVCC syllable as a phonological unit may have phonetic variations (namely, the final coda may undergo deletion). First, voiceless alveolar stops were the most frequently deleted when they occurred as the second final coda consonants of a CVCC syllable; this deletion may be an intermediate process on the way from the abstract form CVCC (with the rime VCC) to the actual pronunciation CVC (with the rime VC), a production strategy employed by some individual speakers. Second, in the internal structure of the rime, the proportion of deletion of the final coda consonant depended on the frequency of the word rather than on the position of postvocalic consonants on the sonority hierarchy. Finally, the segment following the consonant cluster proved to have an effect on the reduction of that cluster; more precisely, the following contrast was observed between obstruents and non-obstruents, reflecting the effect of sonority: when the segment following the consonant cluster was an obstruent, the proportion of deletion of the final coda consonant was increased. Among these results, the effect of word frequency played a critical role for promoting the deletion of the second coda consonant for clusters in CVCC syllables in spontaneous speech. The current study implies that the structure of syllables as phonological units can vary depending on individual speakers' lexical representation.

A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature

  • Ha, Dong Jun;Park, Ji Sun;Jang, Woori;Jung, Na-young;Kim, Su Jin;Moon, Yeonsook;Lee, Jieun
    • Journal of Genetic Medicine
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    • 제18권2호
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    • pp.110-116
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    • 2021
  • Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

Direct Monitoring of Membrane Fatty Acid Changes and Effects on the Isoleucine/Valine Pathways in an ndgR Deletion Mutant of Streptomyces coelicolor

  • Tae-Rim Choi;Suk Jin Oh;Jeong Hyeon Hwang;Hyun Jin Kim;Nara Shin;Jeonghee Yun;Sang-Ho Lee;Shashi Kant Bhatia;Yung-Hun Yang
    • Journal of Microbiology and Biotechnology
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    • 제33권6호
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    • pp.724-735
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    • 2023
  • NdgR, a global regulator in soil-dwelling and antibiotic-producing Streptomyces, is known to regulate branched-chain amino acid metabolism by binding to the upstream region of synthetic genes. However, its numerous and complex roles are not yet fully understood. To more fully reveal the function of NdgR, phospholipid fatty acid (PLFA) analysis with gas chromatography-mass spectrometry (GC-MS) was used to assess the effects of an ndgR deletion mutant of Streptomyces coelicolor. The deletion of ndgR was found to decrease the levels of isoleucine- and leucine-related fatty acids but increase those of valine-related fatty acids. Furthermore, the defects in leucine and isoleucine metabolism caused by the deletion impaired the growth of Streptomyces at low temperatures. Supplementation of leucine and isoleucine, however, could complement this defect under cold shock condition. NdgR was thus shown to be involved in the control of branched-chain amino acids and consequently affected the membrane fatty acid composition in Streptomyces. While isoleucine and valine could be synthesized by the same enzymes (IlvB/N, IlvC, IlvD, and IlvE), ndgR deletion did not affect them in the same way. This suggests that NdgR is involved in the upper isoleucine and valine pathways, or that its control over them differs in some respect.

Analysis of the MVM P38 Promoter Distal DNA cis-Elements Responsible for Transactivation by Nonstructural Proteins

  • Kim, Yoo-Nha;Ahn, Jeong-Keun
    • BMB Reports
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    • 제29권5호
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    • pp.468-473
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    • 1996
  • The P38 promoter of minute virus of mice (MVM) is a very weak promoter which is strongly transactivated by viral nonstructural proteins. To analyze the upstream sequence of the P38 promoter which is responsible for the transactivation by nonstructural proteins in MVM, chloramphenicol acetyltransferase (CAT) reporter plasm ids containing a series of 5' deletion and internal deletion mutants of the P38 promoter were constructed. The wild type and mutant CAT constructs of P38 promoter were cotransfected into murine A92L fibroblast cells with a plasmid expressing viral nonstructural proteins by DEAE-dextran method. Each promoter activity was analyzed by CAT assay. As previously reported (Ahn et al., 1992), the proximal DNA cis-elements required for transactivation of the MVM P38 promoter are GC box and TATA box. However, the analysis of 5' deletion mutants showed that H-l tar like sequence (MVM TAR) which is located between -143 and -122 relative to the transcription initiation site is also required for transactivation of the P38 promoter by nonstructural proteins. Interestingly, even if the MVM TAR was removed by internal deletion, the level of the transactivation is still 70% of wild type level of transactivation. We also found that, in addition to the MVM TAR motif, there are two other motifs which are similar to the MVM TAR sequence. When these TAR like motifs were further deleted, the levels of transactivation were decreased further. Taken together, the MVM TAR sequence and TAR like motifs located upstream of P38 promoter are playing an important role for the transactivation of P38 promoter by nonstructural proteins in minute virus of mice.

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