• Title/Summary/Keyword: copy number

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No Association between Copy Number Variation of the TCRB Gene and the Risk of Autism Spectrum Disorder in the Korean Population

  • Yang, So-Young;Yim, Seon-Hee;Hu, Hae-Jin;Kim, Soon-Ae;Yoo, Hee-Jeong;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.8 no.2
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    • pp.76-80
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    • 2010
  • Although autism spectrum disorder (ASD) has been thought to have a substantial genetic background, major contributing genes have yet to be identified or successfully replicated. Immunological dysfunction has been suggested to be associated with ASD, and T cell-mediated immunity was considered important for the development of ASD. In this study, we analyzed 163 ASD subjects and 97 normal controls by genomic quantitative PCR to evaluate the association between the copy number variation of the 7q34 locus, harboring the TCRB gene, and ASDs. As a result, there was no significant difference of the frequency distribution of TCRB copy numbers between ASD cases and normal controls. TCRB gene copy numbers ranged from 0 to 5 copies, and the frequency distribution of each copy number was similar between the two groups. The proportion of the individuals with <2 copies of TCRB was 52.8% (86/163) in ASD cases and 57.1% (52/91) in the control group (p=0.44). The proportion of individuals with >2 copies of TCRB was 11.7% (19/163) in ASD cases and 12.1% (11/91) in the control group (p=0.68). After the effects of sex were adjusted by logistic regression, ORs for individuals with <2 copies or >2 copies showed no significant difference compared with the diploid copy number as reference (n=2). Although we could not see the positive association, our results will be valuable information for mining ASD-associated genes and for exploring the role of T cell immunity further in the pathogenesis of ASD.

Web-Based Database and Viewer of East Asian Copy Number Variations

  • Kim, Ji-Hong;Hu, Hae-Jin;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.10 no.1
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    • pp.65-67
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    • 2012
  • We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in related studies, we built a database, cataloging the CNVs and related information. This system helps researchers browsing these variants with gene and structure variant annotations. Users can easily find specific regions with search options and verify them from system-integrated genome browsers with annotations.

Evaluation of Methane Oxidation and the Production Potential of Soils in an Urban School (도심 학교 토양의 메탄 산화 및 생성 잠재력 평가)

  • Lee, Yun-Yeong;Kim, Tae Gwan;Ryu, Hee Wook;Cho, Kyung-Suk
    • Microbiology and Biotechnology Letters
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    • v.42 no.1
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    • pp.32-40
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    • 2014
  • Methane oxidation and the production potentials of ground soil (soil A) and garden soil (soil B, C, & D) in an urban school were evaluated, and the methanotrophic and methanogen communities in the soil samples were quantified using quantitative realtime PCR. The methanotrophic community in the raw soil A sample possessed a $6.1{\times}10^3$ gene copy number/g dry weight soil, whereas those in the raw soils B~D samples were $1.6-1.9{\times}10^5$ gene copy numbers/g dry weight soil. Serum bottles added with the soil samples were enriched with methane gas, and then evaluated for their methane oxidation potential. The soil A sample had a longer induction phase for methane oxidation than the other soils. However, soil A showed a similar methane oxidation potential with soils B~D after the induction phase. The methanotrophic community in the enriched soil A sample was increased by up to $2.3{\times}10^7$ gene copy numbers/g dry weight soil, which had no significantly difference compared with those in soils B~D ($1.2-2.8{\times}10^8$ gene copy numbers/g dry weight soil). Methane production showed a similar tendency to methane oxidation. The methanogens community in raw soil A ($1.7{\times}10^5$ gene copy number/g dry weight soil) was much less than those in raw soils B~D ($1.3-3.4{\times}10^7$ gene copy numbers/g dry weight soil). However, after methane gas was produced by adding starch to the soils, soil samples A~D showed $10^7$ gene copy numbers/g dry weight soil in methanogens communities. The results indicate that methanotrophic and methanogenic bacteria have coexisted in this urban school's soils. Moreover, under appropriate conditions for methane oxidation and production, methanotrophic bacteria and methanogens are increased and they have the potential for methane oxidation and production.

Comparative Analysis of Transgene Copy Numbers and Expression Characteristics across Multiple Transgenic Marine Medaka Oryzias dancena Strains carrying the β-Actin Promoter-Driven GFP Reporter

  • Cho, Young Sun;Lee, Sang Yoon;Vu, Nguyen Thanh;Kim, Dong Soo;Nam, Yoon Kwon
    • Fisheries and Aquatic Sciences
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    • v.18 no.2
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    • pp.183-193
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    • 2015
  • Several transgenic marine medaka Oryzias dancena strains harboring a green fluorescent protein (GFP) reporter construct regulated by an endogenous ${\beta}$-actin promoter were established and their expression characteristics in relation to transgene copy numbers were examined in 21 transgene genotypes. Most of the transgenic strains displayed transgene insertion patterns typical of microinjection-mediated introduction of foreign DNA into fish embryos, characterized by the random integration of multiple transgene copies (ranging from 1 - 282 copies per cell), often accompanied by the formation of concatemer(s), as assessed by genomic Southern blot hybridization analysis and qPCR. Transgenic strains showed ubiquitous and continued temporal and spatial expression patterns of the transgenic GFP during most of their life cycle, from the embryonic stage to adulthood, enabling assessment of the expression pattern of the endogenous ${\beta}$-actin gene. However, a comparative evaluation of transgene copy numbers and expression levels showed that copy number-dependent expression, the stability of the ubiquitous distribution and expression efficiency per transgene copy varied among the transgenic strains. Fluorescence expression levels were positively correlated with absolute transgene copy numbers, whereas the expression efficiency per transgene copy was inversely related to the number of transgene integrant copies. Data from this study will guide the selection of potentially desirable transgenic strains with ubiquitous expression of a fluorescent transgene, not only in this marine medaka species but also in other related model fish species.

Plasmid Propagation and Heterologous Gene Expression in Recombinant Yeast (효모균에서의 Plasmid 번식체계와 혼성유전자 발현)

  • 홍억기
    • KSBB Journal
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    • v.8 no.2
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    • pp.133-142
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    • 1993
  • The effects of genetic and environmental factors on productivity of a cloned protein were studied in recombinant Saccharomyces cerevisiae. Plasmid stability and copy level were very high for a $REP^+$ system(at ca. 10 generations, stability: 65-90%, plasmid copy number per cell: 40-200), whereas these were very low for a yep- system(at ca. 10 generations, stability: 30%, plasmid copy number per cell 20). In plasmids containing the $2{\mu}m$ circle genome, a $[cir^o]$ strain was a preferred host cell since the plasmid stability and the copy number in a $[cir^o]$ strain were higher than in a $[cir^+]$strain. Cloned gene expression was dependent on plasmid copy number and stability. The inducer (galactose) level played a very important role in cloned lacZ gene expression, showing that a galactose concentration of 0.8% was sufficient for induction of gene expression. Induction rate was very fast in the case of plasmids exhibiting high stability and copy number by a factor of 4 to 25. The time to reach the peak value of gene expression was longer when galactose was added at the start of fermentation (ca. 26 hours) than at the mid-exponential phase (ca. 6 hours). Glucose repression was reduced by a factor of 2 to 5 as the relative inducer level increased.

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Studies on KEM1 Gene Controlling Mitotic Cell Division in Yeast: Molecular Cloning of a High Copy Suppressor (ROK1) of kem1 (효모에서 세포분열을 조절하는 KEM1 유전자에 관한 연구: kemi의 High Copy Suppressor (ROK1) 클로닝)

  • Kim, Sang Hyeon;Kim, Jin Mi
    • Korean Journal of Microbiology
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    • v.30 no.1
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    • pp.37-41
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    • 1992
  • The KEM1 gene is known to affect microtubule and spindle pole body function during the cell division cycle in Saccharomjyces cerevisiae. To identify new genes with functions similar or related to those of KEM1, we isolated a high copy suppressor gene (ROK1) that suppresses the kem1 mutation when cloned on a high copy number plasmid but not on a low copy number plasmid. Two clones which suppress both the benomyl hypersensitivity and the $Kar^{-}$ enhancing phenotype of kem1 null mutation were isolated and were shown to have a 9.0 kb identical insert by restriction endonuclease analysis. The restriction map constructed indicates that this suppressor gene, ROK1 is not KEM1. Subcloning experiments suggest that the functional region of ROK1 is at least 3.0kb in size.

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Fast Detection of Copy Move Image using Four Step Search Algorithm

  • Shin, Yong-Dal;Cho, Yong-Suk
    • Journal of Korea Multimedia Society
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    • v.21 no.3
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    • pp.342-347
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    • 2018
  • We proposed a fast detection of copy-move image forgery using four step search algorithm in the spatial domain. In the four-step search algorithm, the search area is 21 (-10 ~ +10), and the number of pixels to be scanned is 33. Our algorithm reduced computational complexity more than conventional copy move image forgery methods. The proposed method reduced 92.34 % of computational complexity compare to exhaustive search algorithm.

Analysis of Rumen Fermentation and Methanogen Levels in Response to Various Alfalfa Hay, Oat Hay, and Feed Concentrate Ratios

  • Lee, Seul;Kim, Banji;Ryu, Chaehwa;Jeong, Jinyoung;Kim, Byeonghyeon;Baek, Youlchang
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.40 no.4
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    • pp.279-284
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    • 2020
  • This study aimed to analyze ruminal fermentation, methane emissions, and methanogen levels for different forage feed type and concentrate feed ratios. Alfalfa hay, oat hay, and a feed concentrate were used for in vitro fermentation experiments, at ratios of 9:1, 5:5, and 1:9 (forage:concentrate). After 24 h of incubation, rumen fermentation and methanogen level changes were evaluated. In the low forage treatments, the total gas, CH4, NH3-N, true dry matter digestibility, and total volatile fatty acid were higher than the other treatments, which were used as the parameters on which to assess rumen fermentation (P < 0.05). The feed ratio influenced the copy number for the total archaea and the genus Methanobrevibacter (P = 0.015, P = 0.010). The copy number result trend was like that for CH4 per digested dry matter (DDM). The PCR results and methanogen copy number analysis indicated that the composition of the methanogens affected the CH4 levels, not their copy number. The results of this study can be applied to predict rumen fermentation and methane emission patterns for cattle fed a variety of feedstuffs.

Copy Number Variations in the Human Genome: Potential Source for Individual Diversity and Disease Association Studies

  • Kim, Tae-Min;Yim, Seon-Hee;Chung, Yeun-Jun
    • Genomics & Informatics
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    • v.6 no.1
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    • pp.1-7
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    • 2008
  • The widespread presence of large-scale genomic variations, termed copy number variation (CNVs), has been recently recognized in phenotypically normal individuals. Judging by the growing number of reports on CNVs, it is now evident that these variants contribute significantly to genetic diversity in the human genome. Like single nucleotide polymorphisms (SNPs), CNVs are expected to serve as potential biomarkers for disease susceptibility or drug responses. However, the technical and practical concerns still remain to be tackled. In this review, we examine the current status of CNV DBs and research, including the ongoing efforts of CNV screening in the human genome. We also discuss the characteristics of platforms that are available at the moment and suggest the potential of CNVs in clinical research and application.

Development of Restriction Fragment Length Polymorphism(RELP) Markers in Silkworm, Bombyx mori (누에 RFLP(제한단편 다형현상)마커 개발)

  • 고승주;김태산;이영승;황재삼;이상몽
    • Korean journal of applied entomology
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    • v.36 no.1
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    • pp.96-104
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    • 1997
  • A silkworm Bombyx mori genomic DNA library was constructed from polyphagous J111 strain and unpolyphagous $C_3$ strain to develop the genomic study by DNA makers. Genomic DNAs of two strains were digested with restriction enzyme EcoRI and ligated into pUC18. The ligated plasmids were transferred into E. coli host strain DH5$\alpha$. When the genomic DNAs were hybridized with insert DNAs from transformant, could be categorized from hybridization patterns to three groups as high repetitive sequence, moderately repetitive sequence, and low-copy number sequences. A total of 219 clones containing single or low-copy number sequence inserts were examined for any polymorphisms between two strains of J111 and $C_3$. Forty six clones showed RFLPs and 10 of these clones were used as a probe of analysis of $F_2$ population derived from crossing between J111 and $C_3$ strain. The genetic inheritance tested with each clones will be important tools to construct the genetic map of the silkworm, Bombyx mori.

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