• Title/Summary/Keyword: G3BP1

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p53 Polymorphisms and Haplotypes as a Possible Predictor of a High-risk Group for Hepatocellular Carcinoma

  • Sato Shigeaki;Shiraki Takashi;Inoue Yoshiki;Takeshita Tatsuya;Morimoto Kanehisa
    • 대한예방의학회:학술대회논문집
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    • 1999.10a
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    • pp.1-15
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    • 1999
  • In a case-control study to evaluate the factors involved in the development of hepatocellular carcinoma, polymorphisms of the p53 gene were compared in 68 cases mostly infected with hepatitis C virus (HCV) and 68 controls matched for sex and age: DNA from peripheral blood leukocytes was analyzed by the polymerase chain reaction-single strand conformation polymorphism method and direct sequencing. Polymorphisms analyzed were those in exon 4 (CCC vs. CGC, Pro vs. Arg at codon 72, Al allele vs. A2 allele), intron 2 (C vs. G at nucleotide 38, Al vs. A2), intron 3 (C vs. A at nucleotide 65, Al vs. A2; absence and presence of 16 base pair repeat at nucleotides 24 to 39, Al vs. A2), intron 6 (A vs. G at nucleotide 62, Al vs. A2) and intron 7 (C and T vs. T and G at nucleotides 72 and 92, Al vs. A2). A significantly higher frequency of the allele for CCC (Pro, Al) at codon 72 of exon 4 was found in cases (39%) than in controls (26%) (p<0.05). Highly significant linkage of the polymorphisms in exon 4, intron 2, intron 3 and intron 7, and between the intron 3-16 bp duplication and polymorphism in intron 6 also was found. Matched Fair analysis showed significantly higher frequencies of certain haplotypes (1-1-1-1-2-2 or 1-1-2-1-2-1 for exon 4, intron 2, intron 3, the intron 3-16 bp duplication, intron 6 and intron 7) in cases than in controls (p=0.014, OR=2.27, 95% CI= 1.08-5.12). No preference of specific p53 polymorphisms for specific HCV genotype was detected. These findings suggest that in hepatocarcinogenesis mainly due to HCV infection, genetic factors may be involved and that genetic markers can serve as predictors of a high-risk group for hepatocarcinogenesis.

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TP53 Polymorphisms in Sporadic North Indian Breast Cancer Patients

  • Sharma, Sarika;Sambyal, Vasudha;Guleria, Kamlesh;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan;Bansal, Darpan;Gupta, Arun
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.16
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    • pp.6871-6879
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    • 2014
  • Background: The purpose of this study was to evaluate the potential association of five (p.P47S, p.R72P, PIN3 Ins16bp, p.R213R and r.13494g>a) polymorphisms of TP53 with the risk of developing breast cancer in North Indian Punjabi population. Methods: We screened DNA samples of 200 sporadic breast cancer patients (197 females and 3 males) and 200 unrelated healthy, gender and age matched individuals for the polymorphisms. Results: For the p.P47S polymorphism, we observed the PP genotype in 99.5% of the patients and PS genotype in only 1 patient. All the controls had the wild type PP genotype. The frequency of RR, RP and PP genotype of p.R72P was 23.5% vs 33.5%, 51.5% vs 45.5% and 25% vs 21% in patients and controls respectively. Heterozygous (RP) genotype was increased in breast cancer patients as compared to controls (51.5 vs 45.5%) and showed 1.61 fold significantly increased risk for breast cancer (OR=1.61, 95% CI, 1.01-2.58, p=0.04). In breast cancer patients the frequencies of A1A1, A1A2 and A2A2 genotypes of PIN3 Ins16bp polymorphism were 67%, 26% and 7% respectively whereas in controls the genotype frequencies were 68.5%, 27.5% and 4% respectively, with no significant difference. For p.R213R (c.639A>G), all individuals had homozygous wild type genotype. The frequencies of GG, GA and AA genotypes of TP53 r.13494g>a polymorphism were 62 vs 67.5%, 33 vs 28% and 5 vs 4.5% in patients and controls respectively, again without significant difference. We observed that RP-A1A1 genotype combination of p.R72P and PIN3 Ins16bp and RP-GG combination of p.R72P and r.13494g>a polymorphism showed significant risk of breast cancer (OR=1.65, 95%CI: 0.98-2.78, p=0.05; OR=1.72, 95%CI: 1.01-2.92, p=0.04). Conclusion: The results of present study indicated that among the five TP53 polymorphisms investigated, the p.R72P polymorphism, and the RP-A1A1 and RP-GG genotype combination contribute to breast cancer susceptibility in North Indians.

Human CYP1A2 Promoter Fused-Luciferase Gene Constructs Hardly Respond to Polycyclic Hydrocarbons in Transient Transfection Study in HepG2 Cells

  • Chung, Injae
    • Toxicological Research
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    • v.16 no.2
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    • pp.95-100
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    • 2000
  • In previous study, both constitutive expression and 3-methylcholanthrene (3MC)-mediated elevation of CYP1A2 mRNA were demonstrated in human hepatoma HepG2 cells by reverse transcription-polymerase chain reaction (RT-PCR), suggesting that HepG2 cells would be appropriate for the study of human CYP1A2 regulation(Chung and Bresnick, 1994). Further studies were conducted to determine the basis of this induction phenomenon that is observed in HepG2 cells. Since CYP1A1 gene, another polycyclic hydrocarbon(PH)-inducible gene, is regulated by PHs through their interactions via receptors with cis-elements, the 5'-flanking region of human CYP 1A2 gene was analyzed to search such responsive elements. The promoter activity of various lengths of CYP1A2 gene sequence (-3203/+58bp) was measured in transiently-transfected HepG2 cells by fusion constructs containing the CAT, hGH or luciferase genes as a reporter. This region of the CYP1A2 gene, although containing a XRE, was only weakly responsive (less than 2 fold induction) to 10 nM of TCDD or 1 $\mu$M 3 MC treatment. This small enhancement of promoter activity is inconsistent with the previous observation, i.e., 12 to 14 fold-enhanced CYP1A2 mRNA from 1 $\mu$M 3 MC treated HepG2 cells, suggesting that additional mechanisms would exist for PH-mediated induction of CYP1A2 in these cells.

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Genotypic and Phenotypic Characteristics of Staphylococcus aureus Isolates from Lettuces and Raw Milk (상추와 원유에서 분리한 황색 포도상구균의 유전형 및 표현형 특징)

  • Jung, Hye-Jin;Cho, Joon-Il;Park, Sung-Hee;Ha, Sang-Do;Lee, Kyu-Ho;Kim, Cheol-Ho;Song, Eun-Seop;Chung, Duck-Hwa;Kim, Min-Gon;Kim, Kwang-Yup;Kim, Keun-Sung
    • Korean Journal of Food Science and Technology
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    • v.37 no.1
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    • pp.134-141
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    • 2005
  • To characterize genotypic and phenotypic traits of Staphylococcus aureus isolates (n = 86) from lettuces and raw milk, major virulence-associated genes and antibiotic susceptibility were detected using PCR-based methods and disk diffusion method, respectively. All isolates possessed coagulase gene and showed five polymorphism types [500 bp (2.4%), 580 bp (17.4%), 660 bp (61.6%), 740 bp (17.4%), and 820 bp (1.2%)] due to variable numbers of tandem repeats present within the gene. Two or three different loci of hemolysin gene family were dominant in isolates, 47 of which (55%) possessed combination of hla/hld/hlg-2 genes as the most prevalent types. Among enterotoxin-encoding genes, sea was detected from 32 isolates (37%), sed from 1 isolate (1%), and sea and sed genes were co-detected from 4 isolates (5%), whereas seb, sec, and tsst-1 genes were not detected. All isolates were susceptible to ciprofloxacin, trimethoprim/sulfamethoxazole, oxacillin, and vancomycin, 85 isolates (99%) to penicillin G, 54 isolates (63%) to chloramphenicol, 51 isolates (59%) to erythromycin, and 7 isolates (8%) to clindamycin. Among resistant isolates, seven displayed multiantibiotic-resistance against two different antibiotics.

A report of the second chloroplast genome sequence in Veronica nakaiana (Plantaginaceae), an endemic species in Korea

  • LEE, Yae-Eun;LEE, Yoonkyung;KIM, Sangtae
    • Korean Journal of Plant Taxonomy
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    • v.51 no.1
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    • pp.109-114
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    • 2021
  • Veronica nakaiana Ohwi (Plantaginaceae) is an endemic taxon on Ulleungdo Island, Korea. We report the second complete chloroplast genome sequence of V. nakaiana. Its genome size is 152,319 bp in length, comprising a large single-copy of 83,195 bp, a small single-copy of 17,702 bp, and a pair of inverted repeat regions of 25,711 bp. The complete genome contains 115 genes, including 51 protein-coding genes, four rRNA genes, and 31 tRNA genes. When comparing the two chloroplast genomes of V. nakaiana, 11 variable sites are recognized: seven SNPs and four indels. Two substitutions in the coding regions are recognized: rpoC2 (synonymous substitution) and rpl22 (nonsynonymous substitution). In nine noncoding regions, one is in the tRNA gene (trnK-UUU), one is in the intron of atpF, and seven are in the intergenic spacers (trnH-GUG~psbA, trnK-UUU, rps16~trnQ-UUG, trnC-GCA~petN, psbZ~trnG-GCC, ycf3~trnS-GGA, ycf4~cemA, and psbB~psbT). The data provide the level of genetic variation in V. nakaiana. This result will be a useful resource to formulate conservation strategies for V. nakaiana, which is a rare endemic species in Korea.

Complete genome sequence of multidrug-resistant Moraxella osloensis NP7 with multiple plasmids isolated from human skin (사람의 피부에서 분리한 다약제 내성이며 다수의 플라스미드를 갖는 Moraxella osloensis NP7 균주의 유전체 서열 분석)

  • Ganzorig, Munkhtsatsral;Lim, Jae Yun;Hwang, Ingyu;Lee, Kyoung
    • Korean Journal of Microbiology
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    • v.54 no.3
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    • pp.286-288
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    • 2018
  • Moraxella osloensis NP7 was isolated from human skin of a collage male and showed resistance to ${\beta}-lactam$ and aminoglycoside antibiotics. Herein, we report the complete whole-genome sequence and gene annotations of M. osloensis NP7. It possesses single circular chromosome and seven plasmids. Chromosome is 2,389,582 bp in length with the G + C content of 43.9% and encodes 2,065 protein-coding genes. The combined seven plasmids are 654,202 bp in size with the average G + C content of 40.5% and code for a total of 667 protein-coding genes. The chromosome of NP7 strain contains four ribosomal RNA operon copies, one transfer-messenger RNA gene, forty-seven tRNA genes, three riboswitch genes and three CRISPR arrays. Additional CRISPR array is found in the plasmid pNP7-1. The genes conferring resistance to ${\beta}-lactam$ and aminoglycoside antibiotics were predicted to reside in the plasmid pNP7-1.

Differential Display Analysis of 2,3,7,8-Tetrachlorodibenzo-p-dioxin Identified Induction of Ras-related Nuclear Protein Binding Protein2 (RanBP2) Gene

  • Kim, Dong-Hak;Lim, Young-Ran;Park, Hyoung-Goo;Kim, Beom-Joon;Chun, Young-Jin
    • Toxicological Research
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    • v.25 no.1
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    • pp.35-40
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    • 2009
  • TCDD (2,3,7,8-tetrachlorodibenzo-p-dioxin) and related halogenated aromatic hydrocarbons elicit a diverse spectrum of biochemical and toxic responses in laboratory animals and mammalian cells in culture. Toxicity and carcinogenicity of TCDD is well established but the molecular mechanism is still poorly understood. Here, we found the noble responsive genes to TCDD using the differential display analysis. Treatment of HepG2 cells with TCDD showed a significantly different mRNA expression pattern from the untreated cells in differential display analysis. The differentially displayed bands were isolated and used as probes in dot blot and Northern blot analyses. Of thirty-five isolated differentially displayed bands, only two bands were confirmed as positive in dot blot and Northern blot analyses. The nucleotides sequences of these clones were analyzed and the search of Genebank database revealed that one clone is highly homologous with RanBP2 (Ras-related nuclear protein binding protein2; 92%) and the other is an unknown gene. RanBP2 is a nucleoporin with SUMO E3 ligase activity that functions in both nucleocytoplasmic transport and mitosis and its role as a novel tumor suppressor has been recently proposed. Thus, these results may suggest the clue elucidating the toxic mechanism of TCDD through RanBP2.

Identification of Salted Opossum Shrimp Using COI-based Restriction Fragment Length Polymorphism (COI 기반 제한효소 절편 길이 다형성(RFLP)을 이용한 새우젓 분석)

  • Park, Ju Hyeon;Moon, Soo Young;Kang, Ji Hye;Jung, Myoung Hwa;Kim, Sang Jo;Choi, Hee Jung
    • Journal of Life Science
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    • v.31 no.1
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    • pp.66-72
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    • 2021
  • This study developed a species identification method for the salted opossum shrimp of Acetes japonicus, A. chinensis (Korea, China), A. indicus (I, II), and Palaemon gravieri based on PCR-RFLP markers. Genomic DNA was extracted from the salted opossum shrimp. The COI gene was used to amplify 519 base pairs (bp) using specific primers. The amplified products were digested by Acc I and Hinf I, and the DNA fragments were separated by automated electrophoresis for RFLP analysis. When the amplified DNA product (519 bp) was digested with Acc I, A. japonicus, A. chinensis (Korea), and A. indius (II) showed two fragments, whereas a single band of 519 bp was detected in A. chinensis (China) and A. indius (I). Also, in the RFLP patterns digested by Hinf I, A. chinensis (Korea) and A. chinensis (China) showed a single band of 519 bp, while two fragments were observed in A. japonicus and A. indius (I) and four fragments in A. indius (II). The PCR amplicon of P. gravieri was digested by Acc I into 3 bands of 271, 202, and 46 bp and by Hinf I into a single band of 519 bp. Therefore, salted opossum shrimp-specific RFLP markers showing distinct differences between four species and two sub-species by PCR-RFLP analysis. Thus, the PCR-RFLP markers developed in this study are a good method for identifying the six types of salted opossum shrimp.

Association of a Single Nucleotide Polymorphism with Economic Traits in Porcine Uncoupling Protein 3 Gene (돼지의 UCP3 유전자의 단일염기서열 변이와 경제형질과의 연관성 분석)

  • Oh, Jae-Don;Lee, Kun-Woo;Jung, Il-Jung;Jeon, Gwang-Joo;Lee, Hak-Kyo;Kong, Hong-Sik
    • Journal of Life Science
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    • v.21 no.1
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    • pp.155-158
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    • 2011
  • Uncoupling protein (UCP) 3 has a number of proposed roles in the regulation of fatty acid metabolism. A number of polymorphisms in the human UCP3 gene have been identified, and the correlation with obesity related phenotypes evaluated. The objective of this study was to identify SNP in porcine UCP3 gene and to investigate the effect of the SNP on economic traits. The sequencing analysis method was used to identify nucleotide polymorphisms at position 1405 bp (Genebank accession No : AY739704) in porcine UCP3 gene. The SNP (G150R), located in the exon 3, changed the amino acid to glycine (GGG) from arginine (AGG). This G150R showed three genotypes - GG, GR and RR - by digestion with the restriction enzyme Sma Ⅰ using the PCR-RFLP method. The G150R showed significant effects only on back fat (P<0.05). Animals with the genotype GG had significantly higher back fat thickness (1.358 cm) than animals with the genotype GR (1.288 cm, P<0.05) and RR (1.286 cm, P<0.05). However, the genotypes had no significant association with ADG and days to 90kg. According to results of this study, a G allele of the G150R was found to have a significant effect on back fat thickness. It will be possible to use SNP markers on selected pigs to improve backfat thickness, an important economic trait.

Analysis of Phylogenetic Relationship of 30 Cultivars of Korean Mulberry (Rosales: Moraceae) in Korea

  • Kwon, O-Chul;Kim, Hyun-Bok;Sung, Gyoo-Byung;Kim, Yong-Soon;Ju, Wan-Taek
    • International Journal of Industrial Entomology and Biomaterials
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    • v.37 no.2
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    • pp.82-89
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    • 2018
  • This study was carried out to understand phylogenetic relationships of the 30 mulberry cultivars converved in Korea based on the ITS rDNA region, and they were compared to 40 reference sequences from GenBank. The size and the G+C content of the ITS rDNA gene regions from the 30 Korean mulberry cultivars and 40 reference sequences varied from 612-630 bp and 58.19-61.62%, respectively. Based on the results of the comparative phylogenetic analysis of the ITS rDNA regions of the 30 Korean mulberry cultivars and 40 reference sequences, they were divided into three groups (Group 1, 2, and 3) and two subgroups (Group 1A and 1B within Group 1). The sequence lengths of the Korean mulberry cultivar numbers 1-26 and 27-30 were 615 bp and 616 bp, respectively. At 205 bp location of ITS1 rDNA region, the cultivar numbers 1-26 contain the nucleotide thymine but the cultivar numbers 27-30 contain the nucleotide adenine. In addition, the insertion of the nucleotide adenine at 206 bp location was found only in the four Korean mulberry cultivars (numbers 27-30). Based on these sequence information and phylogenetic result, the 30 Korean mulberry cultivars were identified as M. alba and M. australis. This study will contribute to the construction of genetic database constructions and accurate variety identifications for unidentified mulberry varieties in Korea.