• Title/Summary/Keyword: 3D genomics

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Transcriptome profiling of the coffee (C. arabica L.) seedlings under salt stress condition

  • Haile, Mesfin;Kang, Won Hee
    • Journal of Plant Biotechnology
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    • v.45 no.1
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    • pp.45-54
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    • 2018
  • This research was conducted to study the gene expression of coffee (Coffea arabica L.) seedlings under salt stress condition. A solution of five percent ($2.3dS\;m^{-1}$) deep sea water was used for the salt treatment, and it was thereby compared to normal irrigation water ($0.2dS\;m^{-1}$) used for the control treatment. The mRNA was extracted from the leaves of the coffee seedlings for a comprehensive analysis. In this study, a total of 19,581 genes were identified and aligned to the reference sequences available in the coffee genome database. The gene ontology analysis was performed to estimate the number of genes associated with the identified biological processes, cellular components and molecular functions. Among the 19,581 genes, 7369 (37.64%) were associated with biological processes, 5909 (30.18%) with cellular components, and 5325 (27.19%) with molecular functions. The remaining 978 (4.99%) genes were therefore grouped as unclassified. A differential gene expression analysis was performed using the DESeq2 package to identify the genes that were differentially expressed between the treatments based on fold changes and p-values. Namely, a total of 611 differentially expressed genes were identified (treatment/control) in that case. Among these, 336 genes were up-regulated while 275 of the genes were down-regulated. Of the differentially expressed genes, 60 genes showed statistically significant (p < 0.05) expression, 44 of which were up-regulated and 16 which were down-regulated. We also identified 11 differentially expressed transcription factor genes, 6 of which were up-regulated and rest 5 genes were down-regulated. The data generated from this study will help in the continued interest and understanding of the responses of coffee seedlings genes associated with salinity stress, in particular. This study will also provide important resources for further functional genomics studies.

Growth Outcome and Metabolic Profile of PWS Patients Treated with GH and Differences between AGA and SGA Group

  • Yoon, Ju Young
    • Journal of Interdisciplinary Genomics
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    • v.4 no.2
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    • pp.35-38
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    • 2022
  • Background: Prader-Willi syndrome (PWS) is a complex genetic disease associated with growth impairment, severe obesity and metabolic dysfunctions. High proportion of PWS patients are born small for gestational age (SGA) than normal children, which also increase the risk of growth impairment and metabolic dysfunction in PWS. We aimed to compare growth outcome and metabolic profiles between SGA and appropriate for gestational age (AGA) PWS patients. Methods: Data of 55 PWS children and adults aged more than 2 years old (32 male and 23 female, age 2-18.8 years) from single center were studied. Only patients who were treated with GH were included. The clinical characteristics and laboratory findings were reviewed retrospectively. Results: Among 55 subjects, 39 had 15q11-13 deletion and 16 had uniparental disomy (UPD). Twenty (36.3%) were born SGA. All patients received GH treatment, and 11 (20%) discontinued GH treatment. Mean age at GH treatment initiation was 2.5 (range 0.3-12.4) years, and mean duration of treatment was 6.3 (range 1.0-11.3) years. Current height-SDS (-0.36 vs -0.16) and BMI-SDS (1.44 vs 1.33) did not differ between AGA and SGA group. Two patients in SGA group, but none in AGA group had diabetes mellitus. Mean glucose level was also higher in SGA group (100.1 vs 114.4 mg/dL). Conclusion: Our report gives an overview of growth profile and metabolic dysfunctions recorded in GH treated PWS patients. Growth profile did not differ between AGA and SGA group. Glucose level was higher in SGA group, so more careful monitoring and prevention for DM will be required in SGA group.

Identification of novel potential drugs and miRNAs biomarkers in lung cancer based on gene co-expression network analysis

  • Sara Hajipour;Sayed Mostafa Hosseini;Shiva Irani;Mahmood Tavallaie
    • Genomics & Informatics
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    • v.21 no.3
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    • pp.38.1-38.8
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    • 2023
  • Non-small cell lung cancer (NSCLC) is an important cause of cancer-associated deaths worldwide. Therefore, the exact molecular mechanisms of NSCLC are unidentified. The present investigation aims to identify the miRNAs with predictive value in NSCLC. The two datasets were downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed miRNAs (DEmiRNA) and mRNAs (DEmRNA) were selected from the normalized data. Next, miRNA-mRNA interactions were determined. Then, co-expression network analysis was completed using the WGCNA package in R software. The co-expression network between DEmiRNAs and DEmRNAs was calculated to prioritize the miRNAs. Next, the enrichment analysis was performed for DEmiRNA and DEmRNA. Finally, the drug-gene interaction network was constructed by importing the gene list to dgidb database. A total of 3,033 differentially expressed genes and 58 DEmiRNA were recognized from two datasets. The co-expression network analysis was utilized to build a gene co- expression network. Next, four modules were selected based on the Zsummary score. In the next step, a bipartite miRNA-gene network was constructed and hub miRNAs (let-7a-2-3p, let-7d-5p, let-7b-5p, let-7a-5p, and let-7b-3p) were selected. Finally, a drug-gene network was constructed while SUNITINIB, MEDROXYPROGESTERONE ACETATE, DOFETILIDE, HALOPERIDOL, and CALCITRIOL drugs were recognized as a beneficial drug in NSCLC. The hub miRNAs and repurposed drugs may act a vital role in NSCLC progression and treatment, respectively; however, these results must validate in further clinical and experimental assessments.

Dominance effects of ion transport and ion transport regulator genes on the final weight and backfat thickness of Landrace pigs by dominance deviation analysis

  • Lee, Young?Sup;Shin, Donghyun;Song, Ki?Duk
    • Genes and Genomics
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    • v.40 no.12
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    • pp.1331-1338
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    • 2018
  • Although there have been plenty of dominance deviation analysis, few studies have dealt with multiple phenotypes. Because researchers focused on multiple phenotypes (final weight and backfat thickness) of Landrace pigs, the classification of the genes was possible. With genome-wide association studies (GWASs), we analyzed the additive and dominance effects of the single nucleotide polymorphisms (SNPs). The classification of the pig genes into four categories (overdominance in final weight, overdominance in backfat thickness and overdominance in final weight, underdominance in backfat thickness, etc.) can enable us not only to analyze each phenotype's dominant effects, but also to illustrate the gene ontology (GO) analysis with different aspects. We aimed to determine the additive and dominant effect in backfat thickness and final weight and performed GO analysis. Using additive model and dominance deviation analysis in GWASs, Landrace pigs' overdominant and underdominant SNP effects in final weight and backfat thickness were surveyed. Then through GO analysis, we investigated the genes that were classified in the GWASs. The major GO terms of the underdominant effects in final weight and overdominant effects in backfat thickness were ion transport with the SLC8A3, KCNJ16, P2RX7 and TRPC3 genes. Interestingly, the major GO terms in the underdominant effects in the final weight and the underdominant effects in the backfat thickness were the regulation of ion transport with the STAC, GCK, TRPC6, UBASH3B, CAMK2D, CACNG4 and SCN4B genes. These results demonstrate that ion transport and ion transport regulation genes have distinct dominant effects. Through GWASs using the mode of linear additive model and dominance deviation, overdominant effects and underdominant effects in backfat thickness was contrary to each other in GO terms (ion transport and ion transport regulation, respectively). Additionally, because ion transport and ion transport regulation genes are associative with adipose tissue accumulation, we could infer that these two groups of genes had to do with unique fat accumulation mechanisms in Landrace pigs.

Single-cell RNA sequencing identifies distinct transcriptomic signatures between PMA/ionomycin- and αCD3/αCD28-activated primary human T cells

  • Jung Ho Lee;Brian H Lee;Soyoung Jeong;Christine Suh-Yun Joh;Hyo Jeong Nam;Hyun Seung Choi;Henry Sserwadda;Ji Won Oh;Chung-Gyu Park;Seon-Pil Jin;Hyun Je Kim
    • Genomics & Informatics
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    • v.21 no.2
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    • pp.18.1-18.11
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    • 2023
  • Immunologists have activated T cells in vitro using various stimulation methods, including phorbol myristate acetate (PMA)/ionomycin and αCD3/αCD28 agonistic antibodies. PMA stimulates protein kinase C, activating nuclear factor-κB, and ionomycin increases intracellular calcium levels, resulting in activation of nuclear factor of activated T cell. In contrast, αCD3/αCD28 agonistic antibodies activate T cells through ZAP-70, which phosphorylates linker for activation of T cell and SH2-domain-containing leukocyte protein of 76 kD. However, despite the use of these two different in vitro T cell activation methods for decades, the differential effects of chemical-based and antibody-based activation of primary human T cells have not yet been comprehensively described. Using single-cell RNA sequencing (scRNA-seq) technologies to analyze gene expression unbiasedly at the single-cell level, we compared the transcriptomic profiles of the non-physiological and physiological activation methods on human peripheral blood mononuclear cell-derived T cells from four independent donors. Remarkable transcriptomic differences in the expression of cytokines and their respective receptors were identified. We also identified activated CD4 T cell subsets (CD55+) enriched specifically by PMA/ionomycin activation. We believe this activated human T cell transcriptome atlas derived from two different activation methods will enhance our understanding, highlight the optimal use of these two in vitro T cell activation assays, and be applied as a reference standard when analyzing activated specific disease-originated T cells through scRNA-seq.

The Effects of Water Level and Temperature on Seed Germination and Early Seedling Development of Rice (Oryza sativa I.)

  • Thang La;Seo-Yeong Yang;Hyeon-Seok Lee;Chung-Gun Lee;Myeong-Gue Choi;Woon-Ha Hwang
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2022.10a
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    • pp.132-132
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    • 2022
  • The application of direct seeding cultivation reduces time, labor, and cost. However, this application often has poor seedling establishment and leads to lower yield as compared to transplanting system. The tolerance to anaerobic and low temperature germination is important to improve seedling establishment and the wide-spread application of direct seeding method. This study was carried out to evaluate the responses of three japonica cultivars to different temperatures (15℃, 18℃, 21℃, 24℃, and 27℃) and different flooding levels (1 cm, 4 cm, 7 cm, 10 cm) during germination and seedling development. The mean survival percentage significantly increased (P<0.05) when the flooding level decreased and when temperature increased. There were significant effects of the interaction between temperature and water depth on survival percentage and seedling height. When temperature decreased from 27℃ to 15℃, the germination duration significantly increased from 6.4 days to 16.3 days while the germination speed, survival percentage, and seedling height decreased from 5.3 seeds day-1, 61.9% and 190.6 cm to 2.2 seeds day-1, 33.2%, and 47 cm, respectively. The increase in temperature under submergence condition was associated with the increased expression of Amy3D and ALDH2a but the decreased expression of ADH1 and PDC1. The results of this research would be used for further studies and breeding programs to improve rice seedling establishment and the application of direct seeding cultivation.

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Genetic Analysis of SCN5A in Korean Patients Associated with Atrioventricular Conduction Block

  • Park, Hyoung-Seob;Kim, Yoon-Nyun;Lee, Young-Soo;Jung, Byung-Chun;Lee, Sang-Hee;Shin, Dong-Gu;Cho, Yong-Keun;Bae, Myung-Hwan;Han, Sang-Mi;Lee, Myung-Hoon
    • Genomics & Informatics
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    • v.10 no.2
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    • pp.110-116
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    • 2012
  • Recent several studies have shown that the genetic variation of SCN5A is related with atrioventricular conduction block (AVB); no study has yet been published in Koreans. Therefore, to determine the AVB-associated genetic variation in Korean patients, we investigated the genetic variation of SCN5A in Korean patients with AVB and compared with normal control subjects. We enrolled 113 patients with AVB and 80 normal controls with no cardiac symptoms. DNA was isolated from the peripheral blood, and all exons (exon 2-exon 28) except the untranslated region and exon-intron boundaries of the SCN5A gene were amplified by multiplex PCR and directly sequenced using an ABI PRISM 3100 Genetic Analyzer. When a variation was discovered in genomic DNA from AVB patients, we confirmed whether the same variation existed in the control genomic DNA. In the present study, a total of 7 genetic variations were detected in 113 AVB patients. Of the 7 variations, 5 (G87A-A29A, intervening sequence 9-3C>A, A1673G-H558R, G3578A-R1193Q, and T5457C-D1819D) have been reported in previous studies, and 2 (C48G-F16L and G3048A-T1016T) were novel variations that have not been reported. The 2 newly discovered variations were not found in the 80 normal controls. In addition, G298S, G514C, P1008S, G1406R, and D1595N, identified in other ethnic populations, were not detected in this study. We found 2 novel genetic variations in the SCN5A gene in Korean patients with AVB. However, further functional study might be needed.

Evaluation of Digital PCR as a Technique for Monitoring Acute Rejection in Kidney Transplantation

  • Lee, Hyeseon;Park, Young-Mi;We, Yu-Mee;Han, Duck Jong;Seo, Jung-Woo;Moon, Haena;Lee, Yu-Ho;Kim, Yang-Gyun;Moon, Ju-Young;Lee, Sang-Ho;Lee, Jong-Keuk
    • Genomics & Informatics
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    • v.15 no.1
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    • pp.2-10
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    • 2017
  • Early detection and proper management of kidney rejection are crucial for the long-term health of a transplant recipient. Recipients are normally monitored by serum creatinine measurement and sometimes with graft biopsies. Donor-derived cell-free deoxyribonucleic acid (cfDNA) in the recipient's plasma and/or urine may be a better indicator of acute rejection. We evaluated digital PCR (dPCR) as a system for monitoring graft status using single nucleotide polymorphism (SNP)-based detection of donor DNA in plasma or urine. We compared the detection abilities of the QX200, RainDrop, and QuantStudio 3D dPCR systems. The QX200 was the most accurate and sensitive. Plasma and/or urine samples were isolated from 34 kidney recipients at multiple time points after transplantation, and analyzed by dPCR using the QX200. We found that donor DNA was almost undetectable in plasma DNA samples, whereas a high percentage of donor DNA was measured in urine DNA samples, indicating that urine is a good source of cfDNA for patient monitoring. We found that at least 24% of the highly polymorphic SNPs used to identify individuals could also identify donor cfDNA in transplant patient samples. Our results further showed that autosomal, sex-specific, and mitochondrial SNPs were suitable markers for identifying donor cfDNA. Finally, we found that donor-derived cfDNA measurement by dPCR was not sufficient to predict a patient's clinical condition. Our results indicate that donor-derived cfDNA is not an accurate predictor of kidney status in kidney transplant patients.

Performance and Meat Quality of Three-Crossbreed Korean Native Chickens (KNC) (한국토종닭 3원교배종의 생산성과 육질 특성)

  • Park, Mi-Na;Hong, Eui-Chul;Kang, Bo-Seok;HwangBo, Jong;Kim, Hak-Kyu
    • Korean Journal of Poultry Science
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    • v.38 no.4
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    • pp.293-304
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    • 2011
  • The current work was carried out to investigate the effect of crossbred Korean native chickens (KNC) on performance and meat quality. A total of 720 chicks (1d of age) was used in this work and were divided into groups by crossbreds (A, B, C and D) and sex (male and female). Crossbreds were A) (KNC egg-meat type C strains ${\times}$ KNC meat type S strains) ${\times}$ Ross broiler, B) (KNC egg-meat type C strains ${\times}$ KNC meat type H strains) ${\times}$ KNC meat type S strains, C) (KNC native R strains${\times}$KNC meat type S strains)${\times}$KNC meat type H strains and D(White Semibroiler Chickens). Experimental diets consisted of 3 phases such as starter (0~5 weeks; CP 20.0%, ME 3,050 kcal/kg), earlier (5~8 weeks; CP 18.0%, ME 3,100 kcal/kg) and finisher (8~12 weeks; CP 16.0%, ME 3,150 kcal/kg). They were fed the broiler diets for 12 weeks at the flat house and thirty six chickens were slaughtered at week 5 and 10. There was no significant difference on the fertility of crossbred KNCs, and the hatchability of B crossbred was low compared to other crossbreds. On body weight (BW), D crossbred resulted in a higher BW after 5 weeks (P<0.05). Body weight gain (BWG) and feed intake (FI) of A crossbred were also significant higher compared to the other crossbreds for all periods. On carcass ratio (CR), A crossbred showed higher CR at 5 weeks, there was no significant among crossbreds at 10 weeks. The partial meat ratio(ala, breast, neck, leg) of C crossbred was the lowest among other crossbreds (P<0.05), but the back meat ratio was not difference among treatments at 5 and 10 weeks. pH of meats have no difference among crossbreds at 5 week, and A crossbred was high compared to other crossbreds at 10 week (P<0.05). The moisture content of D crossbred meat and the protein content of B crossbred meat were high compared to other crossbreds at 5 week. Chemical compositions of meats have no difference among crossbreds at 10 week. Lightness and redness have not significance among crossbreds at 5 week, and redness of A crossbred was the highest among all crossbreds (P<0.05). Shear force and cooking loss of A crossbred were high at 5 week, and cooking loss of A crossbred was low compared with other crossbreds at 10 week. These results suggested the basic data that needed to develope the new strains.

Recovery of Genes Epigenetically Altered by the Histone Deacetylase Inhibitor Scriptaid and Demethylating Agent 5-Azacytidine in Human Leukemia Cells

  • Park, Eun-Kyung;Jeon, Eun-Hyung;Kim, In-Ho;Park, Seon-Yang
    • Genomics & Informatics
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    • v.8 no.4
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    • pp.185-193
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    • 2010
  • Histone deacetylation and demethylation are epigenetic mechanisms implicated in cancer. Studies regarding the role of modulation of gene expression utilizing the histone deacetylase inhibitor scriptaid and the demethylating agent 5-azacytidine in HL-60 leukemia cells have been limited. We studied the possibility of recovering epigenetically silenced genes by scriptaid and 5-azacytidine in human leukemia cells by DNA microarray analysis. The first group was leukemia cells that were cultured with 5-azacytidine. The second group was cultured with scriptaid. The other group was cultured with both agents. Two hundred seventy newly developed genes were expressed after the combination of 5-azacytidine and scriptaid. Twenty-nine genes were unchanged after the combination treatment of 5-azacytidine and scriptaid. Among the 270 genes, 13 genes were differed significantly from the control. HPGD, CPA3, CEACAM6, LOC653907, ETS1, RAB37, PMP22, FST, FOXC1, and CCL2 were up-regulated, and IGLL3, IGLL1, and ASS1 were down-regulated. Eleven genes associated with oncogenesis were found among the differentially expressed genes: ETS1, ASCL2, BTG2, BTG1, SLAMF6, CDKN2D, RRAS, RET, GIPC1, MAGEB, and RGL4. We report the results of our leukemia cell microarray profiles after epigenetic combination therapy with the hope that they are the starting point of selectively targeted epigenetic therapy.