• Title/Summary/Keyword: ultraviolet mutation

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Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA ) in South Korea

  • Choi, Jung Yoon;Yun, Hyung Ho;Lee, Cha Gon
    • Journal of Genetic Medicine
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    • v.13 no.1
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    • pp.20-25
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    • 2016
  • Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. Materials and Methods: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. Results: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. Conclusion: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.

Characterization of Mutations in AlHK1 Gene from Alternaria longipes: Implication of Limited Function of Two-Component Histidine Kinase on Conferring Dicarboximide Resistance

  • Luo, Yiyong;Yang, Jinkui;Zhu, Mingliang;Yan, Jinping;Mo, Minghe;Zhang, Keqin
    • Journal of Microbiology and Biotechnology
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    • v.18 no.1
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    • pp.15-22
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    • 2008
  • Four series (S, M, R, and W) of Alternaria longipes isolates were obtained based on consecutive selection with Dimethachlon (Dim) and ultraviolet irradiation. These isolates were then characterized according to their tolerance to Dim, sensitivity to osmotic stress, and phenotypic properties. All the selected Dim-resistant isolates showed a higher osmosensitivity than the parental strains, and the last generation was more resistant than the first generation in the M, R, and W series. In addition, the changes in the Dim resistance and osmotic sensitivity were not found to be directly correlated, and no distinct morphologic characteristics were found among the resistant and sensitive isolates, with the exception of the resistant isolate K-11. Thus, to investigate the molecular basis of the fungicide resistance, a group III two-component histidine kinase (HK) gene, AlHK1, was cloned from nineteen A. longipes isolates. AlHK1p was found to be comprised of a six 92-amino-acid repeat domain (AARD), HK domain, and response regulator domain, similar to the Os-1p from Neurospora crassa. A comparison of the nucleotide sequences of the AlHK1 gene from the Dim-sensitive and -resistant isolates revealed that all the resistant isolates contained a single-point mutation in the AARD of AlHK1p, with the exception of isolate K-11, where the AlHK1p contained a deletion of 107 amino acids. Moreover, the AlHK1p mutations in the isolates of each respective series involved the same amino acid substitution at the same site, although the resistance levels differed significantly in each series. Therefore, these findings suggested that a mutation in the AARD of AlHK1p was not the sole factor responsible for A. longipes resistance to dicarboximide fungicides.

Studies on the Fermentative Production of Guanosine -5′-monophosphate by Microorganism (Part 1) Derivation of XMP-aminase Producing Mutants (미생물에 의한 5′-GMP의 생산에 관한 연구 (제1보) XMP-aminase 생산균주의 분리)

  • 배종찬;손충홍;공운영;유주현
    • Microbiology and Biotechnology Letters
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    • v.7 no.3
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    • pp.127-133
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    • 1979
  • By the treatment of several mutagens, a number of 5'-guanylic acid producing mutants from 5'-xan-thylic acid were obtained from Brevibacterium ammoniagenes ATCC 6871. The indispensensable genetic-characters of the mutants were adenine requirement, lack of GMP-reductase and mutation to adenosine resistance from adenosine sensitiveness. Main product from 5'-xanthylic acirl by strain BA-17-2 was 5'-guanulic acid, and was isolated in a crystalline form by the use of anion exchange resin, Duolite 102 D. The isolated crystalline was identified as 5'-guanylic acid by means of paper chromatography, ultrav-iolet absorption spectra, and infrared absorption spectrum.

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Isolation and Antibacterial Activity of Actinomycetes Producing Growth Inhibition Compounds Against Multi-antibiotic Resistant Pseudomonas Aeruginosa (항생제 다제내성균 Pseudomonas aeruginosa에 대한 생육저해물질 생산 방선균의 분리 및 항균활성)

  • Kang, Dong-Hee;Bae, Ho-Kyung;Kim, Hyun-Soo
    • KSBB Journal
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    • v.26 no.1
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    • pp.19-26
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    • 2011
  • Of the 500 Actinomycetes isolates obtained from soil, one isolate grown on maltose as the sole carbon source produced compound BHK-P19, which inhibited the growth of multiple drug resistant P. aeruginosa 0245. Ultraviolet radiation mutagenesis curtailed production of BHK-P19. Mutation of the BHK-P19 producer using N-methyl-N'-nitro-N-nitroso-guanidine obviated the antibacterial activity to P. aeruginosa 0245, but not towards P. aeruginosa 0225. The mixing of BHK-P19 and BHK-S5 culture extracts inhibited P. aeruginosa 0254, 0225 and 1113. The combined application of BHK-P19 culture extract and Schizandra chinensis Baillon extract inhibited P. aeruginosa 0254, 0225, 0826, 1113, 1378, 1731 and 2492. Use of various concentrations of BHK-P19 culture extract and ampicillin markedly increased antibacterial activity against multi-drug resistant P. aeruginose 1113.

Isolation of Auxotrophic Mutants from Protoplasts of Pleurotus ostreatus and Pleurotus florida (자외선(紫外線) 조사(照射)에 의한 느타리버섯과 사철느타리버섯 원형질체(原形質體)의 영양요구성(營養要求性) 균주(菌株) 선발(選拔)에 관한 연구(硏究))

  • Yoo, Young-Bok;Peberdy, John F.;Park, Yong-Hwan
    • The Korean Journal of Mycology
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    • v.13 no.2
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    • pp.75-78
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    • 1985
  • Mutagenesis of protoplast could serve a great potential tool for improvement of strains and genetics in higher fungi. For the isolation of auxotrophic mutants from protoplasts of Pleurotus ostreatus and Pleurotus florida, viability levels of ultraviolet lights were determined. Seven auxotrophs were obtained from protoplasts irradiating UV to give $0.83{\sim}15%$ survival. The mutants showed a single requirement for each of Arg, Ribo-l, Ribo-2 or Phen for growth. Some of them showed two or three kinds of requirements, Gly Ser, Ade Hypo or Ala Om Tryp for growth.

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Production of Mirin by Mutants of Aspergillus sp. (Aspergillus sp.의 변이주에 의한 미린의 생산)

  • 류병호;신동분;빈재훈;박형선
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.22 no.5
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    • pp.636-642
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    • 1993
  • To improve the quality of mirin, various molds were screened for mutants with high acid carboxypeptidase (ACPase) by the method of ultraviolet radiation. Mutants, Aspergillus oryzae 9-12 and Aspergillus shiroussamii 6082-60 showed activities of ACPase about 2~6 times higher than their parent strains. Aspergillus oryzae 9-12 and Aspergillus shirosamii 6082-60 were the most suitable strains for preparing koji in mirin by the conventional or improved methods. The results showed that total sugar, reducing sugar and total nitrogen were almost the same values in mirin prepared by both methods. The yield of mirin was higher in the improved method than in the conventional method. The clouding formation of mirin appeared in the conventional method ; however, mirin prepared with the mutant koji by the improved method did not show clouding formation.

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Studies on the Fermentative Production of Inosine-5′-monophosphate by Microorganisms (Part 1) Derivation of 5′-IMP Producing Mutants from Brevibacterium ammoniagenes (미생물에 의한 5′-이노신산의 생산에 관한 연구 (제1보) 5′-이노신산 생산균주의 분리)

  • Bae, Jong-Chan;Gong, Woon-Young;Son, Chung-Hong;Jang, Wook;Yoo, Ju-Hyun
    • Microbiology and Biotechnology Letters
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    • v.7 no.3
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    • pp.119-125
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    • 1979
  • As the first step of domestic developmint of the nucleic acid-related compounds, purine base required auxotrophs from Brevibacterium ammoniagenes ATCC 6872 were derived by the ultraviolet irradiation or the treatment of N-methyl-N'-nitro-N-nitroso guanidine (NTG), diethyl sulfate (DES), and ethylme-thyl sulfate (EMS). The optimum conditions of mutation by means of several mutagens were induced respectively. The yield of mutants was 0.083% by the ultraviolet irradiation, 0.67% by the NTG treatment, 1.1% by the DES treatment, and 0.45% by the EMS treatment. Six strains among 239 auxotrophs were screened out to accumulate 5'-lMP in the culture broth. Cry-stalline 5'-lMP was isolated from the culture broth of Brevifbacterium ammoniagenes adnine-guanine less mutant D-21530 by the use of anion exchange resin, Amberlite IRA-402, and it was identified physically and chemically as 5'-inosinic acid.

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Characterization of Mutant Strain, Lactobacillus paracasei ML-7 Isolated from Kimchi, and Its Effect on the Growth of Broiler (김치 유래의 유산균 변이주 Lactobacillus paracasei ML-7의 특성 및 육계 성장에 대한 영향)

  • Park, Keun-Tae;Oh, Mihyang;Nam, Jungok;Ji, Kibbeum;Han, Jong-Kwon
    • Korean Journal of Food Science and Technology
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    • v.46 no.2
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    • pp.148-152
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    • 2014
  • A mutant strain of Lactobacillus paracasei (ML-7) was derived by ultraviolet irradiation of the parent L. paracasei LS-2 strain, followed by colony selection on pH 3.5 MRS agar plates, on which L. paracasei LS-2 cannot grow. The L. paracasei ML-7 mutant strain produced an increased amount of organic acids compared to the L. paracasei LS-2 parent strain. Broiler chickens were randomly fed with one of three experimental diets: a basal diet as a control, and basal diets supplemented with 0.3% of the L. paracasei LS-2 and L. paracasei ML-7 strains. When concluding the study, the final body weights of the broilers fed with the supplemented basal diets were found to be significantly higher (1.9% for LS-2 and 6.2% for ML-7) than the control broiler group. Broilers fed with basal diet supplemented with the mutant L. paracasei ML-7 strain showed increased body weight and food intake, compared to broilers fed with the basal diet with or without the parent L. paracasei LS-2 strain.

Strain Improvement of Aspergillus oryzae for Increasing Productivity of a Proteolytic Enzyme. (고활성 단백질분해효소 생산균주의 개발을 위한 Aspergillus oryzae의 원형질체 융합에 의한 변이)

  • 김두상;김형락;남택정;변재형
    • Microbiology and Biotechnology Letters
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    • v.26 no.6
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    • pp.490-496
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    • 1998
  • Aspergillus oryzae producing high proteolytic enzyme was isolated from soybean koji and named tentatively A. oryzae O-1. A. oryzae U-1 was obtained by mutation of A. oryzae O-1 with ultraviolet (UV)-irradiation and produced 14 times higher pretense activity compared with A. oryzae O-1. A. oryzae E-1 was acquired by treatment of A. oryzae U-1 with 0.5 M ethylmethanesulfonate (EMS) for 6 min at 3$0^{\circ}C$ and produced 39 times higher proteolytic activity than A. oryzae O-1. With protoplast fusion between A. oryzae O-1 and A. oryzee E-1 in the presence of polyethylenegylcol (PEG)-CaCl$_2$, proteolytic activity was increased to 82 times compared to A. oryzae O-1, and the fusant was named A. oryzae PF. The activities of the cultures containing proteolytic enzymes produced by the strains were determined to be 0.23 U/$m\ell$ for A. oryzae O-1, 3.29 U/$m\ell$ for A. oryzae U-1, 8.91 U/$m\ell$ for A. oryzae E-1, and 19.0 U/$m\ell$ for A. oryzae PF.

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UV-induced Mutagenesis of Nannochloropsis oculata for the Increase of Lipid Accumulation and its Characterization (자외선 조사에 의한 Nannochloropsis oculata의 지질 축적량 향상 변이주 생성 및 특성 분석)

  • Kim, Jong-Hun;Park, Hyun-Jin;Kim, Young-Hwa;Joo, Hyun;Lee, Sang-Hoon;Lee, Jae-Hwa
    • Applied Chemistry for Engineering
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    • v.24 no.2
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    • pp.155-160
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    • 2013
  • Research on mutant generation and isolation for microalgae yielding enhanced lipid accumulation is an important issue for the production of economic biodiesel. In the present study, ultraviolet (UV-B type) ray induced mutant generation was tried using a photosynthetic microalgae, Nannochloropsis oculata (N. oculata), for the production of biodiesel. The resulting colonies were isolated and further cultured with both liquid and solid state f/2 media. After a few week cultivation, changes of cell growth rate, dry cell weight, and several important intracellular components (chlorophyll, carotenoid, and lipid) were investigated. Two mutants among thousands colonies showed an increased cell growth and high lipid accumulation as compared to those of wild type. It was also observed that the increased cell growth rate is associated with the overexpressed intracellular proteins. However, the mutants showed a decrease in the chlorophyll biosynthesis.