• Title/Summary/Keyword: comparative genomic analysis

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Large-Scale Copy-Number Alterations in Chicken Ovarian Cancer

  • Seo, Hee-Won;Choi, Jin-Won;Yun, Tae-Won;Lee, Hong-Jo;Kim, Hee-Seung;Song, Yong-Sang;Song, Gwon-Hwa;Han, Jae-Yong
    • Journal of Animal Science and Technology
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    • v.52 no.6
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    • pp.491-498
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    • 2010
  • Copy-number variation (CNV) in particular genomic segments owing to deletions or duplications can induce changes in cellular gene expression patterns and may increase susceptibility to diseases such as cancer. The aim of this study was to examine CNVs related to the incidence of epithelial ovarian cancer in chickens. Genomic DNA was extracted from blood cells and cancerous ovaries collected from four 120-week-old White Leghorn chickens and were used for array-based comparative genome hybridization (CGH) analysis. As a result, 25 amplified and 10 deleted CNV regions were detected in chicken ovarian cancer. Of these, 10 amplified and two deleted CNV regions contained genes associated with human ovarian cancer. Our study using a chicken model may provide a better understanding of human epithelial ovarian cancer.

Molecular Genetics of the Model Legume Medicago truncatula

  • Nam, Young-Woo
    • The Plant Pathology Journal
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    • v.17 no.2
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    • pp.67-70
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    • 2001
  • Medicago truncatula is a diploid legume plant related to the forage crop alfalfa. Recently, it has been chosen as a model species for genomic studies due to its small genome, self-fertility, short generation time, and high transformation efficiency. M. truncatula engages in symbiosis with nitrogen-fixing soil bacterium Rhizobium meliloti. M. truncatula mutants that are defective in nodulation and developmental processes have been generated. Some of these mutants exhibited altered phenotypes in symbiotic responses such as root hair deformation, expression of nodulin genes, and calcium spiking. Thus, the genes controlling these traits are likely to encode functions that are required for Nod-factor signal transduction pathways. To facilitate genome analysis and map-based cloning of symbiotic genes, a bacterial artificial chromosome library was constructed. An efficient polymerase chain reaction-based screening of the library was devised to fasten physical mapping of specific genomic regions. As a genomics approach, comparative mapping revealed high levels of macro- and microsynteny between M. truncatula and other legume genomes. Expressed sequence tags and microarray profiles reflecting the genetic and biochemical events associated with the development and environmental interactions of M. truncatula are assembled in the databases. Together, these genomics programs will help enrich our understanding of the legume biology.

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Genomic characterization of clonal evolution during oropharyngeal carcinogenesis driven by human papillomavirus 16

  • Chae, Jeesoo;Park, Weon Seo;Kim, Min Jung;Jang, Se Song;Hong, Dongwan;Ryu, Junsun;Ryu, Chang Hwan;Kim, Ji-Hyun;Choi, Moon-Kyung;Cho, Kwan Ho;Moon, Sung Ho;Yun, Tak;Kim, Jong-Il;Jung, Yuh-Seog
    • BMB Reports
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    • v.51 no.11
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    • pp.584-589
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    • 2018
  • Secondary prevention via earlier detection would afford the greatest chance for a cure in premalignant lesions. We investigated the exomic profiles of non-malignant and malignant changes in head and neck squamous cell carcinoma (HNSCC) and the genomic blueprint of human papillomavirus (HPV)-driven carcinogenesis in oropharyngeal squamous cell carcinoma (OPSCC). Whole-exome (WES) and whole-genome (WGS) sequencing were performed on peripheral blood and adjacent non-tumor and tumor specimens obtained from eight Korean HNSCC patients from 2013 to 2015. Next-generation sequencing yielded an average coverage of $94.3{\times}$ for WES and $35.3{\times}$ for WGS. In comparative genomic analysis of non-tumor and tumor tissue pairs, we were unable to identify common cancer-associated early mutations and copy number alterations (CNA) except in one pair. Interestingly, in this case, we observed that non-tumor tonsillar crypts adjacent to HPV-positive OPSCC appeared normal under a microscope; however, this tissue also showed weak p16 expression. WGS revealed the infection and integration of high-risk type HPV16 in this tissue as well as in the matched tumor. Furthermore, WES identified shared and tumor-specific genomic alterations for this pair. Clonal analysis enabled us to infer the process by which this transitional crypt epithelium (TrCE) evolved into a tumor; this evolution was accompanied by the subsequent accumulation of genomic alterations, including an ERBB3 mutation and large-scale CNAs, such as 3q27-qter amplification and 9p deletion. We suggest that HPV16-driven OPSCC carcinogenesis is a stepwise evolutionary process that is consistent with a multistep carcinogenesis model. Our results highlight the carcinogenic changes driven by HPV16 infection and provide a basis for the secondary prevention of OPSCC.

Comparative Genomic Analysis of Food-Originated Coagulase-Negative Staphylococcus: Analysis of Conserved Core Genes and Diversity of the Pan-Genome

  • Heo, Sojeong;Lee, Jung-Sug;Lee, Jong-Hoon;Jeong, Do-Won
    • Journal of Microbiology and Biotechnology
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    • v.30 no.3
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    • pp.341-351
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    • 2020
  • To shed light on the genetic differences among food-originated coagulase-negative Staphylococcus (CNS), we performed pan-genome analysis of five species: Staphylococcus carnosus (two strains), Staphylococcus equorum (two strains), Staphylococcus succinus (three strains), Staphylococcus xylosus (two strains), and Staphylococcus saprophyticus (one strain). The pan-genome size increases with each new strain and currently holds about 4,500 genes from 10 genomes. Specific genes were shown to be strain dependent but not species dependent. Most specific genes were of unknown function or encoded restriction-modification enzymes, transposases, or prophages. Our results indicate that unique genes have been acquired or lost by convergent evolution within individual strains.

Genomic Alteration of Bisphenol A Treatment in the Testis of Mice

  • Kim, Seung-Jun;Park, Hye-Won;Youn, Jong-Pil;Ha, Jung-Mi;An, Yu-Ri;Lee, Chang-Hyeon;Oh, Moon-Ju;Oh, Jung-Hwa;Yoon, Seok-Joo;Hwang, Seung-Yong
    • Molecular & Cellular Toxicology
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    • v.5 no.3
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    • pp.216-221
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    • 2009
  • Bisphenol A (BPA) is commonly used in the production of pharmaceutical, industrial, and housing epoxy, as well as polycarbonate plastics. Owing to its extensive use, BPA can contaminate the environment either directly or through derivatives of these products. BPA has been classified as an endocrine disruptor chemicals (EDCs), and the primary toxicity of these EDCs in males involves the induction of reproductive system abnormality. First, in order to evaluate the direct effects on the Y chromosome associated with reproduction, we evaluated Y chromosome abnormalities using a Y chromosome microdeletion detection kit. However, we detected no Yq abnormality as the result of BPA exposure. Secondly, we performed high-density oligonucleotide array-based comparative genome hybridization (CGH) to assess genomic alteration as a component of our toxicity assessment. The results of our data analysis revealed some changes in copy number. Seven observed features were gains or losses in chromosomal DNA (P-value<1.0e-5, average log2 ratio>0.2). Interestingly, 21 probes of chr7:7312289-10272836 (qA1-qA2 in cytoband) were a commonly observed amplification (P-value 3.69e-10). Another region, chr14:4551029-10397399, was also commonly amplified (P-value 2.93e-12, average of log2 ratios in segment>0.3786). These regions include many genes associated with pheromone response, transcription, and signal transduction using ArrayToKegg software. These results help us to understand the molecular mechanisms underlying the reproductive effects induced by BPA.

Genome Sequence of Bacillus cereus FORC_021, a Food-Borne Pathogen Isolated from a Knife at a Sashimi Restaurant

  • Chung, Han Young;Lee, Kyu-Ho;Ryu, Sangryeol;Yoon, Hyunjin;Lee, Ju-Hoon;Kim, Hyeun Bum;Kim, Heebal;Jeong, Hee Gon;Choi, Sang Ho;Kim, Bong-Soo
    • Journal of Microbiology and Biotechnology
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    • v.26 no.12
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    • pp.2030-2035
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    • 2016
  • Bacillus cereus causes food-borne illness through contaminated foods; therefore, its pathogenicity and genome sequences have been analyzed in several studies. We sequenced and analyzed B. cereus strain FORC_021 isolated from a sashimi restaurant. The genome sequence consists of 5,373,294 bp with 35.36% GC contents, 5,350 predicted CDSs, 42 rRNA genes, and 107 tRNA genes. Based on in silico DNA-DNA hybridization values, B. cereus ATCC $14579^T$ was closest to FORC_021 among the complete genome-sequenced strains. Three major enterotoxins were detected in FORC_021. Comparative genomic analysis of FORC_021 with ATCC $14579^T$ revealed that FORC_021 harbored an additional genomic region encoding virulence factors, such as putative ADP-ribosylating toxin, spore germination protein, internalin, and sortase. Furthermore, in vitro cytotoxicity testing showed that FORC_021 exhibited a high level of cytotoxicity toward INT-407 human epithelial cells. This genomic information of FORC_021 will help us to understand its pathogenesis and assist in managing food contamination.

Comparative Genomic Analysis and Rapid Molecular Detection of Xanthomonas euvesicatoria Using Unique ATP-Dependent DNA Helicase recQ, hrpB1, and hrpB2 Genes Isolated from Physalis pubescens in China

  • Faisal Siddique;Yang Mingxiu;Xu Xiaofeng;Ni Zhe;Haseeb Younis;Peng Lili;Zhang Junhua
    • The Plant Pathology Journal
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    • v.39 no.2
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    • pp.191-206
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    • 2023
  • Ground cherry (Physalis pubescens) is the most prominent species in the Solanaceae family due to its nutritional content, and prospective health advantages. It is grown all over the world, but notably in northern China. In 2019 firstly bacterial leaf spot (BLS) disease was identified on P. pubescens in China that caused by both BLS pathogens Xanthomonas euvesicatoria pv. euvesicatoria resulted in substantial monetary losses. Here, we compared whole genome sequences of X. euvesicatoria to other Xanthomonas species that caused BLS diseases for high similarities and dissimilarities in genomic sequences through average nucleotide identity (ANI) and BLAST comparison. Molecular techniques and phylogenetic trees were adopted to detect X. euvesicatoria on P. pubescens using recQ, hrpB1, and hrpB2 genes for efficient and precise identification. For rapid molecular detection of X. euvesicatoria, loop-mediated isothermal amplification, polymerase chain reaction (PCR), and real-time PCR techniques were used. Whole genome comparison results showed that the genome of X. euvesicatoria was more closely relative to X. perforans than X. vesicatoria, and X. gardneri with 98%, 84%, and 86% ANI, respectively. All infected leaves of P. pubescens found positive amplification, and negative controls did not show amplification. The findings of evolutionary history revealed that isolated strains XeC10RQ, XeH9RQ, XeA10RQ, and XeB10RQ that originated from China were closely relative and highly homologous to the X. euvesicatoria. This research provides information to researchers on genomic variation in BLS pathogens, and further molecular evolution and identification of X. euvesicatoria using the unique target recQ gene through advance molecular approaches.

Comparative Genomics Reveals the Core and Accessory Genomes of Streptomyces Species

  • Kim, Ji-Nu;Kim, Yeonbum;Jeong, Yujin;Roe, Jung-Hye;Kim, Byung-Gee;Cho, Byung-Kwan
    • Journal of Microbiology and Biotechnology
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    • v.25 no.10
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    • pp.1599-1605
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    • 2015
  • The development of rapid and efficient genome sequencing methods has enabled us to study the evolutionary background of bacterial genetic information. Here, we present comparative genomic analysis of 17 Streptomyces species, for which the genome has been completely sequenced, using the pan-genome approach. The analysis revealed that 34,592 ortholog clusters constituted the pan-genome of these Streptomyces species, including 2,018 in the core genome, 11,743 in the dispensable genome, and 20,831 in the unique genome. The core genome was converged to a smaller number of genes than reported previously, with 3,096 gene families. Functional enrichment analysis showed that genes involved in transcription were most abundant in the Streptomyces pan-genome. Finally, we investigated core genes for the sigma factors, mycothiol biosynthesis pathway, and secondary metabolism pathways; our data showed that many genes involved in stress response and morphological differentiation were commonly expressed in Streptomyces species. Elucidation of the core genome offers a basis for understanding the functional evolution of Streptomyces species and provides insights into target selection for the construction of industrial strains.

Comparative chloroplast genomics and phylogenetic analysis of the Viburnum dilatatum complex (Adoxaceae) in Korea

  • PARK, Jongsun;XI, Hong;OH, Sang-Hun
    • Korean Journal of Plant Taxonomy
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    • v.50 no.1
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    • pp.8-16
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    • 2020
  • Complete chloroplast genome sequences provide detailed information about any structural changes of the genome, instances of phylogenetic reconstruction, and molecular markers for fine-scale analyses. Recent developments of next-generation sequencing (NGS) tools have led to the rapid accumulation of genomic data, especially data pertaining to chloroplasts. Short reads deposited in public databases such as the Sequence Read Archive of the NCBI are open resources, and the corresponding chloroplast genomes are yet to be completed. The V. dilatatum complex in Korea consists of four morphologically similar species: V. dilatatum, V. erosum, V. japonicum, and V. wrightii. Previous molecular phylogenetic analyses based on several DNA regions did not resolve the relationship at the species level. In order to examine the level of variation of the chloroplast genome in the V. dilatatum complex, raw reads of V. dilatatum deposited in the NCBI database were used to reconstruct the whole chloroplast genome, with these results compared to the genomes of V. erosum, V. japonicum, and three other species in Viburnum. These comparative genomics results found no significant structural changes in Viburnum. The degree of interspecific variation among the species in the V. dilatatum complex is very low, suggesting that the species of the complex may have been differentiated recently. The species of the V. dilatatum complex share large unique deletions, providing evidence of close relationships among the species. A phylogenetic analysis of the entire genome of the Viburnum showed that V. dilatatum is a sister to one of two accessions of V. erosum, making V. erosum paraphyletic. Given that the overall degree of variation among the species in the V. dilatatum complex is low, the chloroplast genome may not provide a phylogenetic signal pertaining to relationships among the species.

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

  • Lee, Cha Gon;Yun, Jun-No;Park, Sang-Jin;Sohn, Young Bae
    • Journal of Genetic Medicine
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    • v.10 no.1
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    • pp.52-56
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    • 2013
  • Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.