• 제목/요약/키워드: Genome-wide

검색결과 695건 처리시간 0.024초

Genome-wide Response of Normal WI-38 Human Fibroblast Cells to 1,763 MHz Radiofrequency Radiation

  • Im, Chang-Nim;Kim, Eun-Hye;Park, Ae-Kyung;Park, Woong-Yang
    • Genomics & Informatics
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    • 제8권1호
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    • pp.28-33
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    • 2010
  • Increased exposure of human to RF fields has raised concerns for its potential adverse effects on our health. To address the biological effects of RF radiation, we used genome wide gene expression as the indicator. We exposed normal WI-38 human fibroblast cells to 1763 MHz mobile phone RF radiation at a specific absorption rate (SAR) of 60 W/kg with an operating cooling system for 24 h. There were no alterations in cell numbers or morphology after RF exposure. Through microarray analysis, we identified no differentially expressed genes (DEGs) at the 0.05 significance level after controlling for multiple testing errors with the Benjaminiochberg false discovery rate (BH FDR) method. Meanwhile, 82 genes were differentially expressed between RF-exposed cells and controls when the significance level was set at 0.01 without correction for multiple comparisons. We found that 24 genes (0.08% of the total genes examined) were changed by more than 1.5-fold on RF exposure. However, significant enrichment of any gene set or pathway was not observed from the functional annotation analysis. From these results, we did not find any evidence that non-thermal RF radiation at a 60-W/kg SAR significantly affects cell proliferation or gene expression in WI-38 cells.

Characterization and functional inferences of a genome-wide DNA methylation profile in the loin (longissimus dorsi) muscle of swine

  • Kim, Woonsu;Park, Hyesun;Seo, Kang-Seok;Seo, Seongwon
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권1호
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    • pp.3-12
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    • 2018
  • Objective: DNA methylation plays a major role in regulating the expression of genes related to traits of economic interest (e.g., weight gain) in livestock animals. This study characterized and investigated the functional inferences of genome-wide DNA methylome in the loin (longissimus dorsi) muscle (LDM) of swine. Methods: A total of 8.99 Gb methylated DNA immunoprecipitation sequence data were obtained from LDM samples of eight Duroc pigs (four pairs of littermates). The reference pig genome was annotated with 78.5% of the raw reads. A total of 33,506 putative methylated regions (PMR) were identified from methylated regions that overlapped at least two samples. Results: Of these, only 3.1% were commonly observed in all eight samples. DNA methylation patterns between two littermates were as diverse as between unrelated individuals (p = 0.47), indicating that maternal genetic effects have little influence on the variation in DNA methylation of porcine LDM. The highest density of PMR was observed on chromosome 10. A major proportion (47.7%) of PMR was present in the repeat regions, followed by introns (21.5%). The highest conservation of PMR was found in CpG islands (12.1%). These results show an important role for DNA methylation in species- and tissue-specific regulation of gene expression. PMR were also significantly related to muscular cell development, cell-cell communication, cellular integrity and transport, and nutrient metabolism. Conclusion: This study indicated the biased distribution and functional role of DNA methylation in gene expression of porcine LDM. DNA methylation was related to cell development, cell-cell communication, cellular integrity and transport, and nutrient metabolism (e.g., insulin signaling pathways). Nutritional and environmental management may have a significant impact on the variation in DNA methylation of porcine LDM.

Alu Hypomethylation in Smoke-Exposed Epithelia and Oral Squamous Carcinoma

  • Puttipanyalears, Charoenchai;Subbalekha, Keskanya;Mutirangura, Apiwat;Kitkumthorn, Nakarin
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권9호
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    • pp.5495-5501
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    • 2013
  • Background: Alu elements are one of the most common repetitive sequences that now constitute more than 10% of the human genome and potential targets for epigenetic alterations. Correspondingly, methylation of these elements can result in a genome-wide event that may have an impact in cancer. However, studies investigating the genome-wide status of Alu methylation in cancer remain limited. Objectives: Oral squamous cell carcinoma (OSCC) presents with high incidence in South-East Asia and thus the aim of this study was to evaluate the Alu methylation status in OSCCs and explore with the possibility of using this information for diagnostic screening. We evaluated Alu methylation status in a) normal oral mucosa compared to OSCC; b) peripheral blood mononuclear cells (PBMCs) of normal controls comparing to oral cancer patients; c) among oral epithelium of normal controls, smokers and oral cancer patients. Materials and Methods: Alu methylation was detected by combined bisulfite restriction analysis (COBRA) at 2 CpG sites. The amplified products were classified into three patterns; hypermethylation ($^mC^mC$), partial methylation ($^uC^mC+^mC^uC$), and hypomethylation ($^uC^uC$). Results: The results demonstrate that the $%^mC^mC$ value is suitable for differentiating normal and cancer in oral tissues (p=0.0002), but is not significantly observe in PBMCs. In addition, a stepwise decrease in this value was observed in the oral epithelium from normal, light smoker, heavy smoker, low stage and high stage OSCC (p=0.0003). Furthermore, receiver operating characteristic (ROC) curve analyses demonstrated the potential of combined $%^mC$ or $%^mC^mC$ values as markers for oral cancer detection with sensitivity and specificity of 86.7% and 56.7%, respectively. Conclusions: Alu hypomethylation is likely to be associated with multistep oral carcinogenesis, and might be developed as a screening tool for oral cancer detection.

특정변화패턴 식별을 위한 염기서열 집단간의 다형성 분석 및 시각화 도구 (A Polymorphism Analysis and Visualization Tool for Specific Variation Pattern Identification in Groups of Nucleotide Sequences)

  • 이일섭;이건명
    • 융합정보논문지
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    • 제8권6호
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    • pp.201-207
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    • 2018
  • 유전체는 생명체가 가지고 있는 모든 유전적 정보를 담고 있다. 특정 종 내에서는 개체별로 고유의 특성이 나타나며, 이 특성은 유전체의 염기서열 분석을 통해 확인할 수 있다. 종내 개체들 사이에 조금씩 다른 염기에 대해 유전적 연관성을 규명 짓고, 더 나아가 질병과의 연관성을 찾는 전장유전체 연관분석 연구가 많이 진행되고 있다. 종 내의 조금씩 발생하는 염기변이를 파악하는 것은 개체의 다형성을 파악하기 위해 중요하다. 이 논문에서는 종 내 여러 개체의 염기서열에서 대립형질 빈도의 특정변화패턴을 쉽게 파악할 수 있는 분석 및 시각화 도구를 제안한다. 그리고 수두 대상포진 바이러스의 계대 배양한 pOka strain 염기서열 데이터를 이용해 실험하여 분석과 시각화의 실용성을 보인다. 본 제안도구를 통해 종 내의 대립형질 빈도의 변화를 탐색하고 유전적 요인을 찾는 연구효율의 증진을 기대할 수 있다.

Candidate Genes Related to Sugar Content in Sweetpotato using GWAS

  • Tae Hwa Kim;Mi Nam Chung;Hyeong Un Lee;Won Park;Sang Sik Nam
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.192-192
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    • 2022
  • Sweetpotato is rich in starch, which is converted to sugar during storage due to enzymatic hydrolysis. The sugar content of sweetpotato is a component related to taste and storability. In this study, the sugar content (fructose, glucose, maltose, sucrose and total sugar content) of 94 genotypes was evaluated and the GWAS (Genome-Wide Association Study) was conducted to search for candidate genes for sugar content. The fructose and glucose content were 0.2 ~ 8.8 and 0.2 ~ 9.4 g/100g, respectively. The maltose, sucrose and total sugar content were 0.2 ~ 9.1,3.2 - 30.0 and 7.9 ~ 40.2 g/100g, respectively. The fructose and glucose showed a positive correlation (0.98). The 94 genotypes were genotyped with genotyping-by-sequencing (GBS) and aligned against the reference genome sequences of sweetpotato. The GBS libraries from 94 genotypes were sequenced on an Illumina HiSeqXten system, and 1,339,892 SNPs (Single Nucleotide Polymorphism) were generated. Filtering for < 60% missing rate and > 0.05 minor allele frequency resulted in a total of 44,255 SNPs used in GWAS. The GAPIT (Genome Association and Prediction Integrated Tool) was used to conduct based on the mean of sugar content with a Bonferroni-corrected chromosome-wide significance threshold with a -logio(P) of 5.95. The significant SNPs were obtained with fructose (seven), glucose (six), maltose (four) and sucrose (nine). There were several genes related to sugar content around the significant SNPs such as sugar transport protein 8-like, probable galactose-1 -phosphate uridyltransferase-like and beta-amylase. These results will contribute to understanding of sugar content and conversion in sweetpotato.

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Genome-wide SNP analysis provides insights into the XX/XY sex-determination system in silver barb (Barbonymus gonionotus)

  • Visarut Chailertrit;Thitipong Panthum;Lalida Kongkaew;Piangjai Chalermwong;Worapong Singchat;Syed Farhan Ahmad;Ekaphan Kraichak;Narongrit Muangmai;Prateep Duengkae;Surin Peyachoknagul;Kyudong Han;Kornsorn Srikulnath
    • Genomics & Informatics
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    • 제21권4호
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    • pp.47.1-47.12
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    • 2023
  • Silver barb (Barbonymus gonionotus) is among the most economically important freshwater fish species in Thailand. It ranks fourth in economic value and third in production weight for fisheries and culture in Thailand. An XX/XY sex-determination system based on gynogenesis was previously reported for this fish. In this study, the molecular basis underlying the sex-determination system was further investigated. Genome-wide single-nucleotide polymorphism data were generated for 32 captive-bred silver barb individuals, previously scored by phenotypic sex, to identify sex-linked regions associated with sex determination. Sixty-three male-linked loci, indicating putative XY chromosomes, were identified. Male-specific loci were not observed, which indicates that the putative Y chromosome is young and the sex determination region is cryptic. A homology search revealed that most male-linked loci were homologous to the Mariner/Tc1 and Gypsy transposable elements and are probably the remnants of an initial accumulation of repeats on the Y chromosome from the early stages of sex chromosome differentiation. This research provides convincing insights into the mechanism of sex determination and reveals the potential sex determination regions in silver barb. The study provides the basic data necessary for increasing the commercial value of silver barbs through genetic improvements.

System-Wide Expression and Function of Olfactory Receptors in Mammals

  • Oh, S. June
    • Genomics & Informatics
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    • 제16권1호
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    • pp.2-9
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    • 2018
  • Olfactory receptors (ORs) in mammals are generally considered to function as chemosensors in the olfactory organs of animals. They are membrane proteins that traverse the cytoplasmic membrane seven times and work generally by coupling to heterotrimeric G protein. The OR is a G protein-coupled receptor that binds the guanine nucleotide-binding $G{\alpha}_{olf}$ subunit and the $G{\beta}{\gamma}$ dimer to recognize a wide spectrum of organic compounds in accordance with its cognate ligand. Mammalian ORs were originally identified from the olfactory epithelium of rat. However, it has been recently reported that the expression of ORs is not limited to the olfactory organ. In recent decades, they have been found to be expressed in diverse organs or tissues and even tumors in mammals. In this review, the expression and expected function of olfactory receptors that exist throughout an organism's system are discussed.

말 데이터베이스 구축 (HorseDB; an Integrated Horse Resource and Web Service)

  • 김대수;조운종;허재원;최은상;조병욱;김희수
    • 생명과학회지
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    • 제16권3호
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    • pp.472-476
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    • 2006
  • 공개된 데이터베이스들에서 말에 대한 생물학적인 데이터와 지놈 데이터를 분석하여 말 데이터베이스를 구축하였다. 말 데이터베이스는 말의 생물학적인 데이터와 지놈 데이터를 생물정보학적인 분석방법으로 분석하고 이들 데이터를 통합하여 제공하는데 목적을 두고 있다. 본 데이터베이스는 말의 생물학적 데이터와 지놈 분석 데이터 그리고 생물정보학적인 분석프로그램을 제공하는 인터페이스로 구성하였다. 또한 사용자의 편의를 돕기 위해서 쉽게 이용할 수 있도록 웹 메뉴를 구성 하였으며 말에 대한 다양한 정보를 제공할 수 있게 하였다. 말 데이터베이스를 이용할 수 있는 웹 주소는 http://www.primate.or.kr/horse이다.

Functional Genomic Approaches Using the Nematode Caenorhabditis elegans as a Model System

  • Lee, Jun-Ho;Nam, Seung-Hee;Hwang, Soon-Baek;Hong, Min-Gi;Kwon, Jae-Young;Joeng, Kyu-Sang;Im, Seol-Hee;Shim, Ji-Won;Park, Moon-Cheol
    • BMB Reports
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    • 제37권1호
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    • pp.107-113
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    • 2004
  • Since the completion of the genome project of the nematode C. elegans in 1998, functional genomic approaches have been applied to elucidate the gene and protein networks in this model organism. The recent completion of the whole genome of C. briggsae, a close sister species of C. elegans, now makes it possible to employ the comparative genomic approaches for identifying regulatory mechanisms that are conserved in these species and to make more precise annotation of the predicted genes. RNA interference (RNAi) screenings in C. elegans have been performed to screen the whole genome for the genes whose mutations give rise to specific phenotypes of interest. RNAi screens can also be used to identify genes that act genetically together with a gene of interest. Microarray experiments have been very useful in identifying genes that exhibit co-regulated expression profiles in given genetic or environmental conditions. Proteomic approaches also can be applied to the nematode, just as in other species whose genomes are known. With all these functional genomic tools, genetics will still remain an important tool for gene function studies in the post genome era. New breakthroughs in C. elegans biology, such as establishing a feasible gene knockout method, immortalized cell lines, or identifying viruses that can be used as vectors for introducing exogenous gene constructs into the worms, will augment the usage of this small organism for genome-wide biology.

Replication of the Association between Copy Number Variation on 8p23.1 and Autism by Using ASD-specific BAC Array

  • Woo, Jung-Hoon;Yang, Song-Ju;Yim, Seon-Hee;Hu, Hae-Jin;Shin, Myung-Ju;Oh, Eun-Hee;Kang, Hyun-Woong;Park, Seon-Yang;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제8권1호
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    • pp.19-27
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    • 2010
  • To discover genetic markers for autism spectrum disorder (ASD), we previously applied genome-wide BAC array comparative genomic hybridization (array-CGH) to 28 autistic patients and 62 normal controls in Korean population, and identified that chromosomal losses on 8p23.1 and on 17p11.2 are significantly associated with autism. In this study, we developed an 8.5K ASD-specific BAC array covering 27 previously reported ASD-associated CNV loci including ours and examined whether the associations would be replicated in 8 ASD patient cell lines of four different ethnic groups and 10 Korean normal controls. As a result, a CNV-loss on 8p23.1 was found to be significantly more frequent in patients regardless of ethnicity (p<0.0001). This CNV region contains two coding genes, DEFA1 and DEFA3, which are members of DEFENSIN gene family. Two other CNVs on 17p11.2 and Xp22.31 were also distributed differently between ASDs and controls, but not significant (p=0.069 and 0.092, respectively). All the other loci did not show significant association. When these evidences are considered, the association between ASD and CNV of DEFENSIN gene seems worthy of further exploration to elucidate the pathogenesis of ASD. Validation studies with a larger sample size will be required to verify its biological implication.