• 제목/요약/키워드: Major Gene

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더미 다중인자 차원축소법에 의한 검증력과 주요 유전자 규명 (Power and major gene-gene identification of dummy multifactor dimensionality reduction algorithm)

  • 여정수;라부미;이호근;이성원;이제영
    • Journal of the Korean Data and Information Science Society
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    • 제24권2호
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    • pp.277-287
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    • 2013
  • 광범위 유전자 관련 연구에서는 유전자-유전자 상호작용을 규명하는 것은 매우 중요하다. 최근 유전자-유전자 상호작용을 규명하는데에 대한 많은 연구가 진행되고 있다. 그 중 하나로 더미 다중인자 차원축소법이다. 이 연구의 목적은 모의실험을 통해 유전자-유전자 상호작용 파악하기 위한 더미 다중인자 차원축소의 검증력을 평가하는 것이다. 또한 이 방법을 적용하여 한우모집단에서 경제형질을 위한 단일 염기 다형성의 상호작용 효과를 확인하였다.

호모시스틴뇨증 동물 모델의 유전자 치료 (Recombinant Adeno-associated Virus-Mediated Gene Transfer in Homocystinuria Mice)

  • 박은숙
    • 대한유전성대사질환학회지
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    • 제5권1호
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    • pp.9-17
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    • 2005
  • Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine ${\beta}$-synthase (CBS). Patients with homocystinuria show clinical symptoms such as mental retardation, lens dislocation, vascular disease with life-threatening thromboembolisms and skeletal deformities. Generally, the major treatments for CBS deficiency include pharmacologic doses of pyridoxine or dietary restriction of methionine. However, there is no effective treatment for this disease up till today and gene therapy can be an attractive novel approach to treatment of the disease. We investigated whether a recombinant adeno-associated virus could be used as a CBS gene transfer vector to reduce the excessive homocysteine level in the homocystinuria mouse model. Recombinant adeno-associated virus vector encoding the human CBS gene (rAAV-hCBS), driven by EF1-a promoter, was infused into CBS-deficient mice ($CBS^{-/-}$) via intramuscular (IM) and intraperitoneal (IP) injection. IP injection was more efficient than IM injection for prolongation of lives and reduction of plasma homocysteine levels. After 2 weeks of gene transfer by IP injection, serum homocysteine level was significantly decreased in treated mice compared with the age-matched controls and the life span was extended about 1.5 times. Also, increased expression of CBS gene was observed by immunohistochemical staining in livers of treated $CBS^{-/-}$ mice and microvesicular lipid droplets was decreased in cytoplasm of liver. These results demonstrate the possibility and efficacy of gene therapy by AAV gene transfer in homocystinuria mice.

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Structural Conservation and Food Habit-related Liver Expression of Uncoupling Protein 2 Gene in Five Major Chinese Carps

  • Liao, Wan-Qin;Liang, Xu-Fang;Wang, Lin;Fang, Ling;Lin, Xiaotao;Bai, Junjie;Jian, Qing
    • BMB Reports
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    • 제39권4호
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    • pp.346-354
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    • 2006
  • The full-length cDNA of grass carp (Ctenopharyngodon idellus) and silver carp (Hypophthalmichthys molitrix) uncoupling protein 2 (UCP2) was obtained from liver. The grass carp UCP2 cDNA was determined to be 1152 bp in length with an open reading frame that encodes 310 amino acids. Five introns (Intron 3, 4, 5, 6 and 7) in the translated region, and partial sequence of Intron 2 in the untranslated region of grass carp UCP2 gene were also obtained. Gene structure comparison between grass carp and mammalian (human and mouse) UCP2 gene shows that, the UCP2 gene structure of grass carp is much similar to that of human and mouse. Partial UCP2 cDNA sequences of bighead carp (Aristichthys nobilis) and mud carp (Cirrhinus molitorella), were further determined. Together with the common carp (Cyprinus carpio) UCP2 sequence from GenBank (AJ243486), multiple alignment result shows that the nucleotide and amino acid sequences of the UCP2 gene, were highly conserved among the five major Chinese carps that belong to four subfamilies. Using beta-actin as control, the ratio UCP2/beta-actin mRNA (%) was determined to be $149.4{\pm}15.6$ (common carp), $127.4{\pm}22.1$ (mud carp), $96.7{\pm}12.7$ (silver carp), $94.1{\pm}26.8$ (bighead carp) and $63.7{\pm}16.2$ (grass carp). The relative liver UCP2 expression of the five major Chinese carps, shows a close relationship with their food habit: benthos and detrituseating fish (common carp and mud carp) > planktivorious fish (silver carp and bighead carp) > herbivorious fish (grass carp). We suggest that liver UCP2 might be important for Chinese carps to detoxify cyanotoxins and bacteria in debris and plankton food.

The Histone Demethylase PHF2 Promotes Fat Cell Differentiation as an Epigenetic Activator of Both C/EBPα and C/EBPδ

  • Lee, Kyoung-Hwa;Ju, Uk-Il;Song, Jung-Yup;Chun, Yang-Sook
    • Molecules and Cells
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    • 제37권10호
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    • pp.734-741
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    • 2014
  • Histone modifications on major transcription factor target genes are one of the major regulatory mechanisms controlling adipogenesis. Plant homeodomain finger 2 (PHF2) is a Jumonji domain-containing protein and is known to demethylate the histone H3K9, a repressive gene marker. To better understand the function of PHF2 in adipocyte differentiation, we constructed stable PHF2 knock-down cells by using the mouse pre-adipocyte cell line 3T3-L1. When induced with adipogenic media, PHF2 knock-down cells showed reduced lipid accumulation compared to control cells. Differential expression using a cDNA microarray revealed significant reduction of metabolic pathway genes in the PHF2 knock-down cell line after differentiation. The reduced expression of major transcription factors and adipokines was confirmed with reverse transcription- quantitative polymerase chain reaction and Western blotting. We further performed co-immunoprecipitation analysis of PHF2 with four major adipogenic transcription factors, and we found that CCATT/enhancer binding protein (C/EBP)${\alpha}$ and C/EBP${\delta}$ physically interact with PHF2. In addition, PHF2 binding to target gene promoters was confirmed with a chromatin immunoprecipitation experiment. Finally, histone H3K9 methylation markers on the PHF2-binding sequences were increased in PHF2 knock-down cells after differentiation. Together, these results demonstrate that PHF2 histone demethylase controls adipogenic gene expression during differentiation.

Staphylococcus aureus DH1에서 분리된 Macrolide-Lincosamide-Streptogramin B 계열 항생물질에 대한 저항성 인자의 특성과 염기서열 (Nucleotide Sequence and Properties of Macrolide-Lincosamide-Streptogramin B Resistance Gene from Staphylococcus aureus DH1)

  • 권동현;박승문;윤권상;변우현
    • 미생물학회지
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    • 제28권1호
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    • pp.27-34
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    • 1990
  • 지속성 및 유발성 발한의 두 macrolide-lincosamide-streptogramin B 저항성 인자가 한 Staphylococcus aureus DHI 균주의 염색체 DNA 및 plasmid pDE1(7.4kb)로부터 각각 분리되었다. pDE1상의 유발성 Em 저항성 인자의 염기서열은 이미 보고 된 바 있는 pE194상의 ermC와 동일하였으며 지속성 Em 저항성 인자의 경우는 그 제한효소 인식부위의 mapping 결과로 보아 ermCdb전자에서 유발성 기구에 관여하는 leader peptide 부위가 결여된 인자인 것으로 밝혀졌다.

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연속형자료의 유전자 상호작용 규명을 위한 SVM MDR과 D-MDR의 방법 비교 (A Comparison Study on SVM MDR and D-MDR for Detecting Gene-Gene Interaction in Continuous Data)

  • 이종형;이제영
    • Communications for Statistical Applications and Methods
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    • 제18권4호
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    • pp.413-422
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    • 2011
  • 유전학에서 유전자 상호작용효과 규명을 위한 방법으로 비모수적인 방법인 Multifactor Dimensionality Reduction(MDR) 방법이 제안되어 현재까지 사용되고 있다. MDR 방법은 이분형 자료에 적합한 방법으로 연속형 자료에는 적용할 수 없는 단점이 있다. 이러한 한계를 극복하기 위해서 Dummy MDR(D-MDR) 방법 그리고 SVM을 활용한 MDR(SVM MDR) 방법 등이 제안 되었다. 본 논문에서는 연속형 자료에 적용 가능한 SVM MDR 방법과 D-MDR 방법을 비교하고, 실제 한우 데이터에 두 방법에 적용한다. 그리고 각 방법의 적용결과를 바탕으로 한우의 종합경제형질에 영향을 주는 유전자 상호작용 조합을 규명한다. 그리고 마지막으로 기존의 SVM MDR 방법과 D-MDR 방법의 장단점 비교를 통해서 추후 새로운 연구방향을 제시한다.

Prediction of an Essential Gene with Potential Drug Target Property in Streptococcus suis Using Comparative Genomics

  • Zaman, Aubhishek
    • Interdisciplinary Bio Central
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    • 제4권4호
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    • pp.11.1-11.8
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    • 2012
  • Genes that are indispensable for survival are referred to as essential gene. Due to the momentous significance of these genes for cellular activity they can be selected potentially as drug targets. Here in this study, an essential gene for Streptococcus suis was predicted using coherent statistical analysis and powerful genome comparison computational method. At first the whole genome protein scatter plot was generated and subsequently, on the basis of statistical significance, a reference genome was chosen. The parameters set forth for selecting the reference genome was that the genome of the query (Streptococcus suis) and subject must fall in the same genus and yet they must vary to a good degree. Streptococcus pneumoniae was found to be suitable as the reference genome. A whole genome comparison was performed for the reference (Streptococcus pneumoniae) and the query genome (Streptococcus suis) and 14 conserved proteins from them were subjected to a screen for potential essential gene property. Among those 14 only one essential gene was found to be with impressive similarity score between reference and query. The essential gene encodes for a type of 'Clp protease'. Clp proteases play major roles in degrading misfolded proteins. Results found here should help formulating a drug against Strptococcus suis which is responsible for mild to severe clinical conditions in human. However, like many other computational studies, the study has to be validated furthermore through in vitro assays for concrete proof.

SNPHarvester를 활용한 주요 유전자 상호작용 효과 감명 (Identify Major Gene-Gene Interaction Effects Using SNPHarvester)

  • 이제영;김동철
    • Communications for Statistical Applications and Methods
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    • 제16권6호
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    • pp.915-923
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    • 2009
  • 광범위 유전자 연관(genome-wide association) 연구에서는 무수히 많은 유전자들 중에 인간의 질병에 관련된 유전자를 찾아왔다. 기존의 인간 질병에 관련된 유전자를 찾는 방법에서 이렇게 많은 유전자들 중에서 우수한 유전자를 찾는데 직접 이용할 시에는 계산이 복잡해지고 비용이 많이 들어가며 시간이 오래 걸린다는 단점이 생긴다. 따라서 이번 수많은 유전자들 중 주요 유전자 그룹을 찾는 방법으로 SNPHarvester가 개발되였다. 본 연구에서는 인간의 질병이 아닌 한우의 여러 경제형질에 관련된 우수 유전자를 SNPHarvester를 이용하여 17 개의 SNP들 중에서 우수한 유전자 그룹을 찾았고 의사결정나무(decision tree)를 이용하여 한우의 여러 경제형질을 높일 수 있는 SNP 그룹 내의 우수 유전자형도 함께 규명할 수 있었다.

Genetic Characterization of the Escherichia coli O66 Antigen and Functional Identification of its wzy Gene

  • Cheng, Jiansong;Liu, Bin;Bastin David A.;Han, Weiqing;Wang, Lei;Feng Lu
    • Journal of Microbiology
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    • 제45권1호
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    • pp.69-74
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    • 2007
  • Escherichia coli is a clonal species, and occurs as both commensal and pathogenic strains, which are normally classified on the basis of their O, H, and K antigens. The O-antigen (O-specific polysaccharide), which consists of a series of oligosaccharide (O-unit) repeats, contributes major antigenic variability to the cell surface. The O-antigen gene cluster of E. coli O66 was sequenced in this study. The genes putatively responsible for the biosynthesis of dTDP-6-deoxy-L-talose and GDP-mannose, as well as those responsible for the transfer of sugars and for O-unit processing were identified based on their homology. The function of the wzy gene was confirmed by the results of a mutation test. Genes specific for E. coli O66 were identified via PCR screening against representatives of 186 E. coli and Shigella O type strains. The comparison of intergenic sequences located between galF and the O-antigen gene cluster in a range of E. coli and Shigella showed that this region may perform an important function in the homologous recombination of the O-antigen gene clusters.