• Title/Summary/Keyword: copy number

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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.

Mitochondrial DNA Copy Number in the Patients of Korean Polycystic Ovary Syndrome (PCOS) (한국인 다낭성난소증후군 환자에서 미토콘드리아 DNA Copy 수의 정량적 분석)

  • Park, Ji-Eun;Jang, Min-Hee;Cho, Sung-Won;Kim, Yoo-Shin;Won, Hyung-Jae;Cho, Jung-Hyun;Baek, Kwang-Hyun;Lee, Sook-Hwan
    • Clinical and Experimental Reproductive Medicine
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    • v.33 no.4
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    • pp.245-251
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    • 2006
  • Objective: We analyzed quantification of mitochondria DNA (mtDNA) to investigate the relationship of mitochondria and pathogenesis of PCOS. Materials and Methods: Peripheral blood samples were collected from 28 patients with PCOS who were under the inclusion criteria for PCOS and from 28 healthy controls. Genomic DNA was used to analyze real-time PCR for mtDNA copy number quantification. The mtDNA copy number was compared between the control and PCOS groups. All data was expressed as mean ${\pm}$ SD. Statistical analysis was assessed by t-test. Results: In this study, the mtDNA $C_T$ was $11.67{\pm}0.422$ in PCOS patients and $11.51{\pm}0.722$ in control group, respectively. The mtDNA copy number was $1726410.71{\pm}407858.591$ the patients of in PCOS and $2167887.51{\pm}252459.28$ in control group (p=0.08), respectively. Conclusion: In our study, using real-time PCR, there was a tendency of lower mtDNA copy number in the patients of PCOS when comparing to the control group even though statistical difference was not significant. However, more extensive analysis is required to clarity relationship between mtDNA copy number and pathogenesis of PCOS.

Parallel Implementation Strategy for Content Based Video Copy Detection Using a Multi-core Processor

  • Liao, Kaiyang;Zhao, Fan;Zhang, Mingzhu
    • KSII Transactions on Internet and Information Systems (TIIS)
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    • v.8 no.10
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    • pp.3520-3537
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    • 2014
  • Video copy detection methods have emerged in recent years for a variety of applications. However, the lack of efficiency in the usual retrieval systems restricts their use. In this paper, we propose a parallel implementation strategy for content based video copy detection (CBCD) by using a multi-core processor. This strategy can support video copy detection effectively, and the processing time tends to decrease linearly as the number of processors increases. Experiments have shown that our approach is successful in speeding up computation and as well as in keeping the performance.

Association of lifestyle with periodontal pathogens on dental patients with periodontitis (retrospective study) (치주질환 환자의 생활양식과 치주 병원균의 연관성에 관한 후향적 연구)

  • Mu-Yeol, Cho;Se-Rim, Cho;Dal-Nim, Park;Sang-Yi, Lee
    • Journal of Korean Academy of Dental Administration
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    • v.10 no.1
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    • pp.42-52
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    • 2022
  • This study aimed to investigate the association of lifestyle with the copy number of periodontal pathogens. This retrospective study collected electronic health records of 102 subjects with periodontitis, including reports of bacterial genetic tests and lifestyle questionnaires. The five pathogens were analyzed as follows: Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Prevotella intermedia, and Fusobacterium nucleatum. The lifestyle questionnaire included age, sex, oral hygiene management, smoking, drinking, exercise, dietary, snacks, water intake, and sleeping time. An independent t-test or ANOVA was performed to compare the copy number of periodontal pathogens according to lifestyle (α=0.05). The copy numbers of P. gingivalis and F. nucleatum were significantly higher than those of other strains. The copy number of T. forsythia in patients who exercised was 54% lower than in those who did not (p=0.009). Other lifestyle factors did not affect the number of bacteria. Exercise habits among the lifestyles showed a association with the number of specific oral bacteria. This result suggests that a lifestyle questionnaire is essential in clinical situation and necessary to prevent and treat the periodontal disease effectively.

Functional Effects of Increased Copy Number of the Gene Encoding Proclavaminate Amidino Hydrolase on Clavulanic Acid Production in Streptomyces clavuligerus ATCC 27064

  • Song, Ju-Yeon;Kim, Eun-Sook;Kim, Dae-Wi;Jesen, Susan E.;Lee, Kye-Joon
    • Journal of Microbiology and Biotechnology
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    • v.18 no.3
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    • pp.417-426
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    • 2008
  • The effect of increasing levels of proclavaminate amidino hydrolase (Pah) on the rate of clavulanic acid production in Streptomyces clavuligerus ATCC 27064 was evaluated by increasing dosoge of a gene (pah2) encoding Pah. A strain (SMF5703) harboring a multicopy plasmid containing the pah2 gene showed significantly retarded cell growth and reduced clavulanic acid production, possibly attributable to the deleterious effects of the multicopy plasmid. In contrast, a strain (SMF5704) carrying a single additional copy of pah2 introduced into chromosome via an integrative plasmid showed enhanced production of clavulanic acid and increased levels of pah2 transcripts. Analysis of transcripts of other genes involved in the clavulanic acid biosynthetic pathway revealed a pattern similar to that seen in the parent. From these results, it appears that clavulanic acid production can be enhanced by duplication of pah2 through integration of a second copy of the gene into chromosome. However, increasing the copy number of only one gene, such as pah2, does not affect the expression of other pathway genes, and so only modest improvements in clavulanic acid production can be expected. Flux controlled by Pah did increase when the copy number of pah2 was doubled, suggesting that under these growth conditions, Pah levels may be a limiting factor regulating the rate of clavulanic acid biosynthesis in S. clavuligerus.

Prefractionation and Enrichment for the Analysis of Low Aboundance Proteome (극미세 단백질 분석을 위한 프로테옴 분획 농축 기술)

  • 지재웅;변상요
    • KSBB Journal
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    • v.16 no.5
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    • pp.435-441
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    • 2001
  • In spite of the powerfulness for the simultaneous study of proteome expression and post-translational modification, 2-D PAGE has inevitable limitation on detect low aboundant proteins. Since many of the low abundant proteins are likely to have very important regulatiory functions in cells, separation and analysis of low copy number proteins is an important issue in proteome studies and challenge for 2-D techniques. Among various methods developed to detect low abundant proteins, electrophoretic protein prefractionation, chromatographic protein prefractionation, and subcellular fractionation are explained in this paper. Their practical strengths and weaknesses are also explained with current research trends.

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Design and Performance Evaluation of Selective DFT Spreading Method for PAPR Reduction in Uplink OFDMA System (OFDMA 상향 링크 시스템에서 PAPR 저감을 위한 선택적 DFT Spreading 기법의 설계와 성능 평가)

  • Kim, Sang-Woo;Ryu, Heung-Gyoon
    • The Journal of Korean Institute of Electromagnetic Engineering and Science
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    • v.18 no.3 s.118
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    • pp.248-256
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    • 2007
  • In this paper, we propose a selective DFT spreading method to solve a high PAPR problem in uplink OFDMA system. A selective characteristic is added to the DFT spreading, so the DFT spreading method is mixed with SLM method. However, to minimize increment of computational complexity, differently with common SLM method, our proposed method uses only one DFT spreading block. After DFT, several copy branches are generated by multiplying with each different matrix. This matrix is obtained by linear transforming the each phase rotation in front of DFT block. And it has very lower computational complexity than one DFT process. For simulation, we suppose that the 512 point IFFT is used, the number of effective sub-carrier is 300, the number of allowed sub-carrier to each user's is 1/4 and 1/3 and QPSK modulation is used. From the simulation result, when the number of copy branch is 4, our proposed method has more than about 5.2 dB PAPR reduction effect. It is about 1.8 dB better than common DFT spreading method and 0.95 dB better than common SLM which uses 32 copy branches. And also, when the number of copy branch is 2, it is better than SLM using 32 copy branches. From the comparison, the proposed method has 91.79 % lower complexity than SLM using 32 copy branches in similar PAPR reduction performance. So, we can find a very good performance of our proposed method. Also, we can expect the similar performance when all number of sub-carrier is allocated to one user like the OFDM.

Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data

  • Kim, Jaewon;Rhee, Hwanseok;Kim, Jhingook;Lee, Sanghyuk
    • Genomics & Informatics
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    • v.18 no.1
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    • pp.3.1-3.8
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    • 2020
  • Patient-derived xenograft (PDX) mouse models are frequently used to test the drug efficacy in diverse types of cancer. They are known to recapitulate the patient characteristics faithfully, but a systematic survey with a large number of cases is yet missing in lung cancer. Here we report the comparison of genomic characters between mouse and patient tumor tissues in lung cancer based on exome sequencing data. We established PDX mouse models for 132 lung cancer patients and performed whole exome sequencing for trio samples of tumor-normal-xenograft tissues. Then we computed the somatic mutations and copy number variations, which were used to compare the PDX and patient tumor tissues. Genomic and histological conclusions for validity of PDX models agreed in most cases, but we observed eight (~7%) discordant cases. We further examined the changes in mutations and copy number alterations in PDX model production and passage processes, which highlighted the clonal evolution in PDX mouse models. Our study shows that the genomic characterization plays complementary roles to the histological examination in cancer studies utilizing PDX mouse models.

An advanced tool, droplet digital PCR (ddPCR), for absolute quantification of the red-tide dinoflagellate, Cochlodinium polykrikoides Margalef (Dinophyceae)

  • Lee, Hyun-Gwan;Kim, Hye Mi;Min, Juhee;Kim, Keunyong;Park, Myung Gil;Jeong, Hae Jin;Kim, Kwang Young
    • ALGAE
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    • v.32 no.3
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    • pp.189-197
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    • 2017
  • To quantify the abundance of the harmful dinoflagellate Cochlodinium polykrikoides in natural seawaters, we developed the innovative procedure using a droplet digital PCR (ddPCR) with C. polykrikoides-specific primers targeting the internal transcription sequence (ITS). The abundance of C. polykrikoides was estimated by the specific copy number of target ITS DNA segments per cell in cultures and natural water samples. The copy number per C. polykrikoides cell as acquired by ddPCR was $157{\pm}16$, which was evaluated against known cell numbers through a simplified protocol preparing DNAs. The abundances of C. polykrikoides in the waters of different locations estimated by ddPCR agreed with the number of cells visually counted under a microscope. This protocol was used to measure the abundance of C. polykrikoides close to and further off the southern coast of Korea in August of 2016 and 2017. The practical application showed that this method can reduce time for analysis and increase accuracy.

VCS: Tool for Visualizing Copy Number Variation and Single Nucleotide Polymorphism

  • Kim, HyoYoung;Sung, Samsun;Cho, Seoae;Kim, Tae-Hun;Seo, Kangseok;Kim, Heebal
    • Asian-Australasian Journal of Animal Sciences
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    • v.27 no.12
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    • pp.1691-1694
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    • 2014
  • Copy number variation (CNV) or single nucleotide phlyorphism (SNP) is useful genetic resource to aid in understanding complex phenotypes or deseases susceptibility. Although thousands of CNVs and SNPs are currently avaliable in the public databases, they are somewhat difficult to use for analyses without visualization tools. We developed a web-based tool called the VCS (visualization of CNV or SNP) to visualize the CNV or SNP detected. The VCS tool can assist to easily interpret a biological meaning from the numerical value of CNV and SNP. The VCS provides six visualization tools: i) the enrichment of genome contents in CNV; ii) the physical distribution of CNV or SNP on chromosomes; iii) the distribution of log2 ratio of CNVs with criteria of interested; iv) the number of CNV or SNP per binning unit; v) the distribution of homozygosity of SNP genotype; and vi) cytomap of genes within CNV or SNP region.