• Title/Summary/Keyword: that-Deletion

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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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    • v.22 no.3
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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.

Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

  • Kim, Bo Ram;Kim, Rina;Cho, Angela;Kang, Hye Sim;Park, Chul Min;Kim, Sung Yob;Shim, Soon Sup
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.117-120
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    • 2021
  • We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

Mon1 Is Essential for Fungal Virulence and Stress Survival in Cryptococcus neoformans

  • Son, Ye-Eun;Jung, Won-Hee;Oh, Sang-Hun;Kwak, Jin-Hwan;Cardenas, Maria E.;Park, Hee-Soo
    • Mycobiology
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    • v.46 no.2
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    • pp.114-121
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    • 2018
  • Mon1 is a guanine nucleotide exchange factor subunit that activates the Ypt7 Rab GTPase and is essential for vacuole trafficking and autophagy in eukaryotic organisms. Here, we identified and characterized the function of Mon1, an ortholog of Saccharomyces cerevisiae Mon1, in a human fungal pathogen, Cryptococcus neoformans. Mutation in mon1 resulted in hypersensitivity to thermal stress. The mon1 deletion mutant exhibited increased sensitivity to cell wall and endoplasmic reticulum stress. However, the mon1 deletion mutant showed more resistance to the antifungal agent fluconazole. In vivo studies demonstrated that compared to the wild-type strain, the mon1 deletion mutant attenuated virulence in the Galleria mellonella insect model. Moreover, the mon1 deletion mutant was avirulent in the murine inhalation model. These results demonstrate that Mon1 plays a crucial role in stress survival and pathogenicity in C. neoformans.

Expression of a Carboxy-Terminal Deletion Mutant of Recombinant Tadpole H-Chain Ferritin in Escherichia coli

  • Lee, Mi-Young;Kim, Young-Taek;Kim, Kyung-Suk
    • BMB Reports
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    • v.29 no.5
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    • pp.411-416
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    • 1996
  • In order to study the role of the protein shell in both iron uptake and iron core formation of ferritin, we constructed a deletion mutant of the ferritin gene and expressed the mutant gene in Escherichia coli, This mutant was obtained by introducing an amber mutation at position Pro-157 and a deletion of the 19 amino acid residues at the carboxy-terminus of the recombinant tadpole H-chain ferritin. The deleted amino acids correspond to E-helix forming the hydrophobic channel in the protein. E. coli harboring the plasmid pTHP157, which contains the deleted gene, was grown at $23^{\circ}C$ in the presence of 0.1 mM IPTG, and the induced protein appeared to be partly soluble. Nondenaturing polyacrylamide gel electrophoresis showed that the expressed mutant H-chains coassemble into holoprotein, suggesting that E-helix is not necessary for assembly of the subunits as reported for human H-chain ferritin. Its ability in iron core formation was proven in an Fe staining gel, the result disagreeing with the observation that the hydrophobic channel is necessary for iron core formation in human H-chain ferritin.

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Isolation, Expression Pattern, Polymorphism and Association Analysis of Porcine TIAF1 Gene

  • Wang, Y.;Xiong, Y.Z.;Ren, Z.Q.;Zuo, B.;Lei, M.G.;Deng, C.Y.
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.3
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    • pp.313-318
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    • 2009
  • TIAF1 is a TGF-${\beta}$1-induced anti-apoptotic factor that plays a critical role in blocking TNF (tumor necrosis factor) cytotoxicity in mouse fibroblasts and participates in TGF-${\beta}$-mediated growth regulation. In this study, we obtained the full-length cDNA sequence of the porcine TIAF1 gene. Real-time PCR further revealed that the TIAF1 gene was expressed at the highest level in liver and kidney with prominent expressions detected in uterus, and lower levels detected in heart, spleen, lung, stomach, small intestine, skeletal muscle and fat of Large White pigs. Sequence analysis indicated that a 6 base-pair deletion mutation existed in the exon of the TIAF1 gene between Meishan and Large White pigs. This mutation induced deletion of Gln and Val amino acids. PCR-RFLP was used to detect the polymorphism in 394 pigs of a "Large White${\times}$Meishan" $F_{2}$ resource population and four purebred pig populations. The frequencies of the A allele (with a 6 bp deletion) were dominant in Chinese Meishan and Bamei pigs, and the frequencies of the B allele (no 6 bp deletion) were dominant in Large White and Landrace pigs. Association analyses revealed that the deletion mutation had highly significant associations (p<0.01) with meat marbling score of the thorax-waist longissimus dorsi (LD) muscle (MM1) and intramuscular fat percentage (IMF), and significant associations (p<0.05) with carcass length (CL). The results presented here supply evidence that the 6 bp deletion mutation in the TIAF1 gene affects porcine meat quality and provides useful information for further porcine breeding.

A New Deletion Criterion of Principal Components Regression with Orientations of the Parameters

  • Lee, Won-Woo
    • Journal of the Korean Statistical Society
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    • v.16 no.2
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    • pp.55-70
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    • 1987
  • The principal components regression is one of the substitues for least squares method when there exists multicollinearity in the multiple linear regression model. It is observed graphically that the performance of the principal components regression is strongly dependent upon the values of the parameters. Accordingly, a new deletion criterion which determines proper principal components to be deleted from the analysis is developed and its usefulness is checked by simulations.

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The Phonetic Realization of High Tone in North Kyungsang Korean

  • Chang, Woo-Hyeok
    • Speech Sciences
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    • v.11 no.3
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    • pp.37-54
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    • 2004
  • The main goal of this study is to examine the current issue of the deletion of high tone vs. the downstep or upstep of high tone in North Kyungsang Korean (NKK). In this phonetic experiment, five native speakers of North Kyungsang Korean participated and two categories, such as compounds and two-word phrases were included as a test material. This experiment shows that when the first word belongs to the nonfinal class, the high tone of the second word is overwhelmingly deleted. When the first word belongs to the final class, the high tone of it is also overwhelmingly deleted. It is thus concluded that when two words are combined into a phrase, the peak of one word retains, whereas the peak of the other is deleted. It is confirmed that a single high tone prominence in a phonological phrase in NKK is not due to the processes of down step or upstep but the deletion process.

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Identification of a Regulatory Element Required for 3’-End Formation in Transcripts of rhp51$^+$, a recA Homolog of the Fission Yeast Schizosaccharomyces pombe

  • Yeun Kyu Jang
    • Animal cells and systems
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    • v.3 no.4
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    • pp.413-415
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    • 1999
  • Our previous report demonstrated that the rhp51$^+$, a recA and RAD51 homolog of the fission yeast, encodes three transcripts of 1.9, 1.6 and 1.3 kb which have at least six polyadenylation sites. The 3'-end of the gene alone can direct the formation of multiple, discrete 3'ends of the transcripts. To identify the regulatory element required for the 3'-end formation of -rhp51$^+$ deletion mapping analysis was performed. Northern blot analysis revealed that the 254-bp DNA fragment including 4 distinct poly (A) sites downstream from the Hindlll site, is crucial for normal 3'-end formation. Deletion of the 3'-terminal AU rich region caused appearance of read-through RNA, leading to enhancement of survival rate of the rhp51 deletion mutant in response to DNA damaging agent, methylmethane sulfonate (MMS). The results imply that the rhp51$^+$ system may be useful for molecular analysis of the 3'-end formation of RNA in the fission yeast.

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Metrical Foot in Korean Phonology (한국어 음운론의 음보)

  • Lee Sang-Jik
    • MALSORI
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    • no.25_26
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    • pp.38-51
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    • 1993
  • Korean phonology has not recognised metrical foot as a phonological unit to account for certain phonological processes. This paper, however, suggests that an optional h-deletion process in Korean should require the notion of metrical foot as an independent phonological domain. The previous analyses rely on the notion of speech speed to explain optional h-deletion : i. e. an intervocalic h is deleted in fast speech, but in slow speech it remains. This paper claims that the notion of speech speed should be reinterpreted in terms of metrical foot : i.e. foot-internal t is deleted, but foot-initial h remains. Such analysis provides evidence that metrical foot constitutes a phonological unit in Korean phonology. With the notion of metrical foot, it enables us to achieve more detailed and accurate analysis of the optional h-deletion process in Korean.

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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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    • v.7 no.3
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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.