• Title/Summary/Keyword: 표현형 변이

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Isolation and Characterization of Aspergillus nidulans Mutants Which Undergo Sexual Development in Light Exposure (빛의 존재하에서도 유성분화를 하는 Aspergillus nidulans의 돌연변이체 분리 및 분석)

  • Min, Jung-Youl;Kim, Hye-Ryun;Han, Kap-Hoon;Han, Dong-Min
    • Korean Journal of Microbiology
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    • v.43 no.2
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    • pp.77-82
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    • 2007
  • In a homothallic ascomycete Aspergillus nidulans, sexual development is inhibited by various environmental stresses such as acetate medium, visible light and high osmolarity conditions. In order to study the genes involved in this stress-related regulatory network, we first attempted to isolate mutants that could develop cleistothecia even in the presence of any of those stresses including intensive visible light. More than 10,000 mutants were screened and 167 mutants were analyzed. Among them, 152 mutants underwent sexual development under the single stress condition of either high osmotic, high acetate or light condition but no sexual development in more than two stresses. Six mutants can produce cleistothecia under light or acetate stress but not in salt stress. Moreover, 6 mutants showed the ability to develop cleistothecia under the light but not under the acetate or osmo-stress. The mutants were revealed to have independent single gene mutation and grouped into different complementation groups (silA-F). The mutant alleles were all recessive to that of wild type. The light responsiveness of development implies the existence of delicate regulation process including reception and translocation of light signaling and determination of development.

UNDERSTANDING OF EPIGENETICS AND DNA METHYLATION (인간 게놈의 Copy Number Variation과 유전자 질환)

  • Oh, Jung-Hwan;Nishimura, Ichiro
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.30 no.2
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    • pp.205-212
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    • 2008
  • Genetic variation in the human genome occurs on various levels; from the single nucleotide polymorphism to large, microscopically visible chromosome anomalies. It can be present in many forms, including variable number of tandem repeat (VNTRs; e.g., mini- and microsatellites), presence/absence of transposable elements (e.g., Alu elements), single nucleotide polymorphisms, and structural alterations (e.g., copy number variation, segmental duplication, inversion, translocation). Until recently SNPs were thought to be the main source of genetic and phenotypic human variation. However, the use of methods such as array comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH) have revealed the presence of copy number variations(CNVs) ranging from kilobases (kb) to megabases (Mb) in the human genome. There is great interest in the possibility that CNVs playa role in the etiology of common disease such as HIV-1/AIDS, diabetes, autoimmune disease, heart disease and cancer. The discovery of widespread copy number variation in human provides insights into genetic variability among populations and provides a foundation for studies of the contribution of CNVs to evolution and disease.

Analysis of Quantitative Trait Loci (QTL) Associated with the Gel Consistency in Rice (쌀의 호응집성에 대한 QTLs 분석)

  • Kim, Tae-Heon;Sohn, Jae-Keun;Kim, Kyung-Min
    • Korean Journal of Breeding Science
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    • v.41 no.4
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    • pp.474-481
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    • 2009
  • The purpose of this study was to identify the quantitative trait loci (QTL) associated with gel consistency (GC), and to evaluate the relationships between GC and physico-chemical properties related to eating quality in rice. A total of 120 doubled haploid (DH) lines derived from a cross between 'Samgang' and 'Nagdong' and 26 varieties were used for this study. The 120 DH lines were divided into four groups, soft (61~100 mm), medium (41~60 mm), hard (26~40 mm) and whole population, according to the gel length. A negative correlation between GC and amylose content was observed only in the soft group. The GC negatively correlated with lipid content in the medium, and the whole population, but positively correlated with lipid content in the soft group. The positive correlation between GC and protein content was observed in the soft group, while negative correlations were observed in the medium group and the whole population. Two significant QTLs regarding GC were detected on chromosomes 4 and 11. They collectively explained 23% of phenotypic variation with LOD score of 3.1 and 2.9, respectively. The DNA markers of S4026 and RM287 were tightly linked to GC in the DH population and 26 varieties, respectively.

Studies on Polymorphism of Transferrin of Serum Proteins in Tilapia (Oreochromis niloticus) (Tilapia(Oreochromis niloticus)의 혈청과 단백질의 transferrin의 다형현상에 관한 연구)

  • Sim Un-Hwa;Yoon Jong-Man;Kim Kye-Yung;Park Hong-Yang
    • Journal of Aquaculture
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    • v.2 no.1
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    • pp.9-20
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    • 1989
  • This study was taken to isolate transferrin fractions from the sera of tilapia(Oreochromis niloticus) by physico-chemical analyses such as the rivanol precipitation, iron-staining method, SDS-polyacrylamide gel electrophoresis and $^{59}FeCl_3$ autoradiography, and to calculate gene frequencies by using Hardy-Weinberg Law. The results obtained in this experiment were summarized as follow : 1. The transferrin fraction is composed of several components possessing relative lower electrophoretic mobilities and higher molecular sizes than the albumin components. 2. When different staining method was compared with transferrin in band, it was not found difference. 3. It was concluded that the optimun ratio of rivanol to serum was 2 : 1 and this ratio was used in all further fractionation. 4. The molecular weight of transferrin component was about 70,000 $\pm$ 2,000. 5. Tilapia transferrin fractionations were found to be polymorphic. 6. There transferrin variants(A, B and C) have been found in tilapia(Oreochromis niloticus) and Tf types were assumed to be controlled by three codominant alleles Tf A, Tf B and Tf C. Six different phenotypes can be theoretically expected Tf AA, Tf AB, Tf AC, Tf BB, Tf BC, and Tf CC. Only five types of these were observed and Tf CC types(homozygotes) was not found. 7. The frequencies of the three allele Tf A, Tf B and Tf C were 0.795, 0.15 and 0.055 respectively.

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A Case of Cerebral Adrenoleukodystrophy with c.1252C>T Mutation inABCD1 Gene (ABCD1 유전자 c.1252C>T의 돌연변이가 확인된 X-연관성 대뇌부신백질형성장애 1례)

  • Jeong, Yu Ju;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Ki, Chang-Seok;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.14 no.1
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    • pp.54-59
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    • 2014
  • Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.

Molecular Diversity of pagA Gene from Baciilus anthracis (탄저균 pagA 유전자의 분자적 다양성)

  • 김성주;조기승;최영길;채영규
    • Korean Journal of Microbiology
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    • v.37 no.1
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    • pp.49-55
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    • 2001
  • Bacillus anthracis is a gram-positive spore-forming bacterium that causes the disease anthrax. The anthrax toxin contains three components, including the protective antigen (PA), which binds to eucaryotic cell surface receptors and mediates the transport of toxins into the cell. In this study, the entire 2,294-nucleotide protective antigen gene (pag) was sequenced from 4 of B. anthracis strains to identify potential variation in the toxin and to further our understanding of B. anthracis evolution in Korea. Sequence alignment of the entire PA gene from 30 strains representative of the four B. anthracis diversity groups revealed mutations. The mutation of B. anthracis BAK are located adjacent to a highly antigenic region crossing the junction between PA domains 3 and 4 shown to be critical to LF binding. The different mutational combinations observed in this study give rise to 11 PA genotypes and 4PA phenotypes. Three-dimensional analysis of all the amino acid changes (Ala to Val) observed in BAK indicated that these changes are not only close sequentially but also very close in three-dimensional space to the antigenic region importan tfor LF binding. Phylogenetic (cladistic) analysis of the pag corresponded with previous strain grouping based on chromosomal variation, suggesting that plasmid evolution in B. anthracis has occurred with little or no horizontal transfer between the different strains.

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Analysis of Morphological Characteristics and Variation among Six Populations of Zelkova serrata Makino in Korea (국내자생 느티나무 6개집단의 형태적 특징과 변이조사)

  • Nam, Jae Ik;Choe, Go Eun;Choe, Myung Gil;Park, Jae In
    • Korean Journal of Plant Resources
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    • v.26 no.5
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    • pp.557-565
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    • 2013
  • This study was conducted to examine variations of 35 morphological characteristics of 6 natural populations of Zelkova serrata in Korea. On the basis of the results of the ANOVA tests, the populations were significantly different in 16 of the 20 quantitative morphological characteristics that were tested. In particular, the 'Cheongju-si Gutdae Mountain' population showed larger values in 9 of the 20 quantitative characteristics that were examined. In the results of principal component analysis of the characteristics, examined characteristics were not suitable for the variation of 6 natural populations. According to the results of cluster analysis, 'Namhae-gun Mijori Evergreen Forest' population was grouped with 'Yangpyeon-gun Yongmun Mountain' population to the nearest group, and then 'Cheongju-si Gutdae Mountain' population, 'Boeun-gun Sokri Mountain' population, 'Daegu metropolitan city Palgong Mountain' population, and 'Hamyang-gun Sang Forest' population were grouped in regular sequence.

In vivo Functional Analysis of γ-butyrolactone Autoregulator Receptor Gene (scaR) in Streptomyces clavuligerus (Streptomyces clavuligerus의 γ-butyrolactone autoregulator receptor 유전자에 대한 in vivo 기능 분석)

  • Kang Su-Jin;Lee Chang-Kwon;Choi Sun-Uk;Kim Hyun-Soo;Hwang Yong-Il
    • Journal of Life Science
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    • v.16 no.1
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    • pp.76-81
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    • 2006
  • A $\gamma-butyrolactone$ autoregulator receptor has a common activity as DNA-binding transcriptional repressors controlling secondary metabolism and/or morphological differentiation in Streptomyces. A gene (scaR) encoding it was cloned from Streptomyces cravuligerus, a clavulanic acid producer, and was in vitro characterized in a previous report. In this study to clarify the in vivo function of ScaR, a $\gamma-butyrolactone$ autoregulator receptor of Streptomyces clavuligerus, we constructed a scaR-deleted strain by means of homologous recombination. No difference in morphology was found between the wild-type strain and the scaR-disruptant, but the scaR-disruptant showed higher clavulanic acid production. This indicates that the ScaR in S. clavuligerus acts as a negative regulator of the biosynthesis of clavulanic acid, but plays no role in morphological differentiation.

Development of Grid-Based Distributed Runoff Model in Urban Area (격자기반 도시유역 분포형 유출모형의 개발)

  • Ryu, Hee-Sang;Kim, Mun-Mo;An, Won-Sik
    • Proceedings of the Korea Water Resources Association Conference
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    • 2010.05a
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    • pp.759-763
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    • 2010
  • 본 연구는 격자기반의 지표면 유출 및 도시 유역 우수관거 유출해석모형으로서 유역을 관거 유입구를 기준으로 다수의 소유역들로 구분하고 각 소유역내 지표면 흐름을 비선형저류방정식으로 표현하여 유출량을 산정하는 방법 및 유역을 일정한 크기의 격자로 분할한 상태에서 각 격자의 유입 유출을 계산함으로써 주어진 시간 간격별로 유역 전체에 대한 물수지를 파악하는 격자 물수지식을 이용하는 방법을 결합하여 도시유역의 지표면 유출량을 산정하기 위한 격자기반의 분포형 지표면 유출해석 모형을 개발하는 것을 연구의 목적으로 하였다. 즉, 본 연구에서 개발한 유출모형은 지표면 유출의 메카니즘을 비선형저류방정식으로 표현한다는 점에서 SWMM의 방법을, 격자기반으로 유출량을 계산 추적한다는 것이다. 또한 도시지역의 침수형태 및 원인을 파악함과 동시에 기존의 도시유출 해석모형을 일부 수정 및 보완하여 집중호우발생시의 지표이동류 흐름, 폐합형 우수관거, 하류부의 배수영향 등을 고려한 우수관거 유출모델을 개발하였다. 본 모형을 이용하여 가상 및 실제 유역에 대한 유출모의를 수행함으로써 모형의 적용성을 평가하였다. 본 연구에서 제시하는 격자기반 도시유출해석모형은 대상유역을 일정한 크기의 격자로 구성하고 개개의 격자마다 유출해석을 위한 지형정보와 수문정보를 입력하여 격자별 유출량을 계산 추적함으로써 유역의 임의의 위치에서의 유출량, 유출심의 시간적 변화와 공간적인 분포를 모의할 수 있다. 가상 및 실제 유역에 대한 유출해석을 통하여 본 연구에서 개발한 모형은 이동강우나 국지적인 집중호우 등 시공간적으로 변하는 수문 특성을 반영할 수 있고, 폐합형 우수관망 해석 및 하류부 배수효과를 검토하여 도시유역의 홍수방재관리에 유용하게 활용될 수 있을 것으로 기대된다.

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Phenotypical changes of lymphocyte subsets infiltrated in the skin lesions induced experimentally by very virulent strain of Marek's disease virus in chickens (마렉병 바이러스 강독주의 실험 접종에 의해 유발된 닭 피부병변에 침윤한 림프구 표현형의 변화)

  • Cho, Kyoung-Oh
    • Korean Journal of Veterinary Research
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    • v.41 no.3
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    • pp.373-380
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    • 2001
  • Marek's disease virus (MDV) can cause skin lesions including inflammatory to tumorous. The phenotypical changes of lymphocytes infiltrating in the skin lesions induced by MDV were not clear. Therefore, the skin biopsies taken at weekly intervals for 8 weeks from the same specific-pathogen free chickens inoculated with Md/5 MDV were examined to analysis the phenotypical changes of lymphocytes. Histologically skin lesions progressed from initial inflammatory to late tumorous. Sequentially CD4+ T lymphocytes increased gradually in number from initial skin lesions and were major composition cells in the tumor lesions. Regardless of inflammatory or tumor lesions, CD8+ T cells and ${\gamma}{\delta}$ T cells infiltrated particularly in the dermis and subcutaneous on which MDV was actively replicated in the feather follicle epithelium(FFE). In addition, IgG bearing B lymphocytes in considerable number infiltrated in the dermis and subcutaneous tissues. From these results, the development of MDV-induced skin lesions was inflammatory following tumorous. In addition, each CD8+, ${\gamma}{\delta}$ and CD4+ T cells and B cell might act to protect MDV replication in the FFE or tumor cells which turned on lytic cycle.

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