• 제목/요약/키워드: Candidate Gene

검색결과 808건 처리시간 0.026초

삼릉(三稜)이 자궁근종세포의 증식억제와 세포자멸사 관련 발현에 미치는 영향 (The effect of Sparganii Rhizoma on the proliferation inhibition of human uterine leiomyoma cell and expression of gene related cell apoptosis)

  • 박창건;백승희;김동철
    • 대한한방부인과학회지
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    • 제19권2호
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    • pp.199-213
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    • 2006
  • Purpose : This study was aimed to investigate the inhibitory effect of Sparganii Rhizoma on the proliferation of human uterine leiomyoma cells and the expression of gene related the mechanism of cell apoptosis. Methods : This study was evaluated the number of death cells treated with indicated concentration of Sparganii Rhizoma and investigated cell death rate by MTS assay. Furthermore, fluorescence-activated cell sorter analysis and DNA fragmentation assay were used to dissect between necrosis and apoptosis. and then we observed the differential gene expression by western blot analysis. Results :1) The inhibitory effect on the growth of uterine leiomyoma cell treated with Sparganii Rhizoma was increased in a dose dependent manner. 2) As the result of FACS analysis, subG1 phase incrase was observed 23.49% inuterine leiomyoma cell treated with Sparganii Rhizoma at $500\;{\mu}g/ml$ compared to control.. 3) The gene expression of p53, p21 related cell apoptosis was increased according to increasing concentration but p27 was none exchanged. 4) The expression of cyclin A, D and E was decreased in a concentration proportional and then the dephosphorylation of pRb was increased. 5) The character of apoptosis, DNA fragmentation was significantly observed according to increasing concentration. 6) The expression of pro-caspase3 were decreased dependent on treatment concentration and activated PARP took place. Conclusion : The inhibitory effect of Sparganii Rhizoma on the proliferation of human uterine leiomyoma cells was observed with apoptosis and cell cycle arrest. These data suggest that Sparganii Rhizoma might be candidate of medical therapy for uterine leiomyoma.

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Identification of CCL1 as a Gene Differentially Expressed in $CD4^+$ T cells Expressing TIM-3

  • Jun, Ka-Jung;Lee, Mi-Jin;Shin, Dong-Chul;Woo, Min-Yeong;Kim, Kyong-Min;Park, Sun
    • IMMUNE NETWORK
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    • 제11권4호
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    • pp.203-209
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    • 2011
  • Background: T cell immunoglobulin mucin containing molecule (TIM)-3 is expressed in differentiated Th1 cells and is involved in the suppression of the cytokine production by these cells. However, the regulation of the expression of other T cell genes by TIM-3 is unclear. Herein, we attempted to identify differentially expressed genes in cells abundantly expressing TIM-3 compared to cells with low expression of TIM-3. Methods: TIM-3 overexpressing cell clones were established by transfection of Jurkat T cells with TIM-3 expression vector. For screening of differentially expressed genes, gene fishing technology based on reverse transcription-polymerase chain reaction (RT-PCR) using an annealing control primer system was used. The selected candidate genes were validated by semi quantitative and real-time RT-PCR. Results: The transcription of TIMP-1, IFITM1, PAR3 and CCL1 was different between TIM-3 overexpressing cells and control cells. However, only CCL1 transcription was significantly different in cells transiently transfected with TIM3 expression vector compared with control cells. CCL1 transcription was increased in primary human $CD4^+$ T cells abundantly expressing TIM-3 but not in cells with low expression of TIM-3. Conclusion: CCL1 was identified as a differentially transcribed gene in TIM-3-expressing $CD4^+$ T cells.

Mutational Analysis of Extranodal NK/T-Cell Lymphoma Using Targeted Sequencing with a Comprehensive Cancer Panel

  • Choi, Seungkyu;Go, Jai Hyang;Kim, Eun Kyung;Lee, Hojung;Lee, Won Mi;Cho, Chun-Sung;Han, Kyudong
    • Genomics & Informatics
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    • 제14권3호
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    • pp.78-84
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    • 2016
  • Extranodal natural killer (NK)/T-cell lymphoma, nasal type (NKTCL), is a malignant disorder of cytotoxic lymphocytes of NK or T cells. It is an aggressive neoplasm with a very poor prognosis. Although extranodal NKTCL reportedly has a strong association with Epstein-Barr virus, the molecular pathogenesis of NKTCL has been unexplored. The recent technological advancements in next-generation sequencing (NGS) have made DNA sequencing cost- and time-effective, with more reliable results. Using the Ion Proton Comprehensive Cancer Panel, we sequenced 409 cancer-related genes to identify somatic mutations in five NKTCL tissue samples. The sequencing analysis detected 25 mutations in 21 genes. Among them, KMT2D, a histone modification-related gene, was the most frequently mutated gene (four of the five cases). This result was consistent with recent NGS studies that have suggested KMT2D as a novel driver gene in NKTCL. Mutations were also found in ARID1A, a chromatin remodeling gene, and TP53, which also recurred in recent NGS studies. We also found mutations in 18 novel candidate genes, with molecular functions that were potentially implicated in cancer development. We suggest that these genes may result in multiple oncogenic events and may be used as potential bio-markers of NKTCL in the future.

PLCz 유전자의 유전적 다형성(g.158T>C)과 두록 동결정액의 운동학적 특성과의 연관성 분석 (Association Study Analysis of Phospholipase C Zeta (PLCz) Gene Polymorphism (g.158T>C) for Duroc Boar Post-Thawed Semen Motility and Kinematic Characteristics)

  • 사수진;이미진;김기현;우제석;고준호;김영주;조은석
    • 한국수정란이식학회지
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    • 제30권3호
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    • pp.137-142
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    • 2015
  • Cryopreservation of boar semen is continually researched in reproductive technologies and genetic resource banking in breed conservation. For evaluating the boar semen quality, sperm motility (MOT) is an important parameter because the movement of spermatozoa indicates active metabolism, membrane integrity and fertilizing capacity. Various researches have been trying to improve the quality of semen post-thawed in boar. Recently, polymorphism (g.158T>C) of phospholipase C zeta (PLCz) gene reported to be significant association with MOT. This study was conducted to evaluate the PLCz gene as a positional controlling for motility and kinematic characteristics of post-thawed boar semen. To results, The g.158 T>C SNP of PLCz was significantly associated with frozen semen motility and kinematic characteristics. g.158 T>C SNP was high significantly associated with MOT, VCL, VSL and VAP (p<0.0001, p=0.0002, p<0.0001 and p<0.0001, respectively). Therefore, we suggest that the intron region of the porcine PLCz, may be used as a molecular marker for Duroc boar post-thawed semen quality, although its functional effect was not defined yet. Whether the association is due to the candidate gene or not require further verification. Thus, it will be of interest to continue association studies in the regions surrounding those genes.

Genome-Wide Transcriptional Response During the Development of Bleomycin-Induced Pulmonary Fibrosis in Sprague-Dawley Rats

  • Park, Han-Jin;Yang, Mi-Jin;Oh, Jung-Hwa;Yang, Young-Su;Kwon, Myung-Sang;Song, Chang-Woo;Yoon, Seok-Joo
    • Toxicological Research
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    • 제26권2호
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    • pp.137-147
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    • 2010
  • Pulmonary fibrosis is a common consequence of many lung diseases and a leading cause of morbidity and mortality. The molecular mechanisms underlying the development of pulmonary fibrosis remain poorly understood. One model used successfully to study pulmonary fibrosis over the past few decades is the bleomycin-induced pulmonary fibrosis model. We aimed to identify the genes associated with fibrogenesis using an Affymetrix GeneChip system in a bleomycin-induced rat model for pulmonary fibrosis. To confirm fibrosis development, several analyses were performed, including cellular evaluations using bronchoalveolar lavage fluid, measurement of lactate dehydrogenase activity, and histopathological examinations. Common aspects of pulmonary fibrosis such as prolonged inflammation, immune cell infiltration, emergence of fibroblasts, and deposition of extracellular matrix and connective tissue elements were observed. Global gene expression analysis revealed significantly altered expression of genes ($\geq$ 1.5-fold, p < 0.05.) in a time-dependent manner during the development of pulmonary fibrosis. Our results are consistent with previous results of well-documented gene expression. Interestingly, the expression of triggering receptor expressed on myeloid cells 2 (Trem2), secreted phosphoprotein 1 (Spp1), and several proteases such as Tpsab1, Mcpt1, and Cma1 was considerably induced in the lung after bleomycin treatment, despite little evidence that they are involved in pulmonary fibrogenesis. These data will aid in our understanding of fibrogenic mechanisms and contribute to the identification of candidate biomarkers of fibrotic disease development.

DNA Sequence Variation of Candidate Gene for Salt Tolerance in Soybean Mutant

  • Chang Yeok Moon;Byeong Hee Kang;Woon Ji Kim;Sreeparna Chowdhury;Sehee Kang;Seo Young Shin;Wonho Lee;Hyeon-Seok Lee;Bo-Keun Ha
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.259-259
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    • 2022
  • Soil salinity is a major factor that reduces crop yields. The amount of soil affected by salinity is about 83 million hectares (FAO 2000), which is increasing due to the effects of climate change. In soybean [Glycine max (L.) Merr.], nutritional properties such as protein, starch, and sucrose content together with biomass and yield tends to reduce due to excessive salt. As a result of QTL mapping using the 169 F2:3 population from the KA-1285 (salt-tolerant) × Daepung (salt-sensitive) in a previous study, two major QTLs (Gm03_39796778 and Gm03_40600088) related to salt tolerance were found on chromosome 3. In this study, the CDS region of the Gmsalt3 gene was analyzed using the ABI 3730x1 DNA Analyzer (Macrogen, Korea). The sequence of Gmsalt3 gene in KA-1285 was compared with Williams 82.a4.vl and PI483463 (Glycine soja). Two transversions were found at exon6 in KA-1285 and PI483463. Currently, whole genome sequencing and variation analysis using the Illumine Novaseq 6000 machine (Illumina, USA) are in progress. The results of this study can provide useful molecular markers for the selection of salt-tolerant soybeans and can be used as basic data for future salt-tolerant gene research.

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Genetic Variations Analysis and Characterization of the Fifth Intron of Porcine NRAMP1 Gene

  • Yan, X.M.;Ren, J.;Ai, H.S.;Ding, N.S.;Gao, J.;Guo, Y.M.;Chen, C.Y.;Ma, J.W.;Shu, Q.L.;Huang, L.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제17권9호
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    • pp.1183-1187
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    • 2004
  • The natural resistance-associated macrophage protein 1 (NRAMP1) gene was identified as a candidate gene controlling the resistance and susceptibility to a number of intracellular parasites in pigs. The genetic variations in a 1.6 kb region spanning exon 1 and exon 3 of the porcine NRAMP1 gene were investigated by PCR-HinfI-RFLP in samples of 1347 individuals from 21 Chinese indigenous pig populations and 3 western pig breeds. Three alleles (A, B, C) and four genotypes (AA, BB, AB, BC) were detected. Significant differences in genotype and allele frequencies were observed between Chinese indigenous pig populations and exotic pig breeds, while in general the differences in genotype and allele frequencies among Chinese indigenous pig populations were not significant. The allele C was detected only in Duroc, Leping Spotted and Dongxiang Spotted pig, and the two Chinese pig populations showed similar genotype and allele frequencies. Four Chinese Tibetan pig populations displayed genetic differentiation at the NRAMP1 gene locus. In addition, intron 5 of the NRAMP1 gene was isolated and characterized by directly sequencing the PCR products encompassing intron 5. The alignment of intron 5 of the porcine, human, equine and ovine NRAMP1 gene showed a similarity of 45.38% between pig and human, 52.55% between pig and horse, 63.47% between pig and sheep, respectively.

저분자량 수용성 키토산을 이용한 동맥 벽 표적성 유전자 전달체의 합성 (The Synthesis of Artery Wall Targeted Gene Carrier Using Low Molecular Water-Soluble Chitosan)

  • 최창용;장미경;나재운
    • 폴리머
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    • 제30권4호
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    • pp.279-285
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    • 2006
  • 유전자 치료에 있어서 안전성의 장점을 지니고 있는 비바이러스성 전달체에 대한 관심도가 높아져가고 있다. 비바이러스성 전달체 중, 양이온성 리포좀이나 합성 유전자 전달체는 in vitro계에서 효율적인 DNA 전달체이지만, 낮은 생체적합성으로 인하여 in vivo 계에서의 응용성은 크게 뒤떨어지고 있다. 한편, 천연 양이온성 다당류인 키토산은 낮은 독성과 강한 양전하를 띠고 있어 유전자 전달 시스템 (gene delivery system)에 있어 아주 기대되는 전달체이다. 본 연구에서는 저분자량 수용성 키토산 (low molecular water-soluble chitosan ; LMWSC)을 이용하여 동맥 벽 세포를 표적할 수 있는 표적성 유전자 전달체를 합성하였다. 상대 점도와 Kina 적정법을 이용하여 LMWSC의 점도 평균 분자량 $(M_W)$과 탈아세틸화도 (degree of de acetylation ; DDA)를 측정하였고 구조는 FTIR, $^1H-NMR$, 그리고 $^{13}C-NMR$을 통하여 분석하였다. 동맥 벽을 표적하기 위한 유전자 전달체로서 pegylated LMWSC 의 말단에 특이성 세포 표적 펩타이드인 artery wall binding peptide (AWBP)를 결합시킴으로써 AWBP-PEG-g-LMWSC을 합성하였고 FTIR, $^1H-NMR$. zeta potentiometer. 그리고 atomic force microscopy (AFM)을 이용하여 분석하였다.

Association of the Porcine Cluster of Differentiation 4 Gene with T Lymphocyte Subpopulations and Its Expression in Immune Tissues

  • Xu, Jingen;Liu, Yang;Fu, Weixuan;Wang, Jiying;Wang, Wenwen;Wang, Haifei;Liu, Jianfeng;Ding, Xiangdong;Zhang, Qin
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권4호
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    • pp.463-469
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    • 2013
  • Cluster of differentiation 4 (CD4) is mainly expressed on $CD4^+$ T cells, which plays an important role in immune response. The aim of this study was to detect the association between polymorphisms of the CD4 gene and T lymphocyte subpopulations in pigs, and to investigate the effects of genetic variation on the CD4 gene expression level in immune tissues. Five missense mutations in the CD4 gene were identified using DNA pooling sequencing assays, and two main haplotypes (CCTCC and AGCTG) in strong linkage disequilibrium (with frequencies of 50.26% and 46.34%, respectively) were detected in the population of Large White pigs. Our results indicated that the five SNPs and the two haplotypes were significantly associated with the proportions of $CD4^-CD8^-$, $CD4^+CD8^+$, $CD4^+CD8^-$, $CD4^+$ and $CD4^+/CD8^+$ in peripheral blood (p<0.05). Gene expression analysis showed the mRNA level of the CD4 gene in thymus was significantly higher than that in lymph node and spleen (p<0.05). However, no significant difference was observed between animals with CCTCC/CCTCC genotype and animals with AGCTG/AGCTG genotype in the three immune tissues (p>0.05). These results indicate that the CD4 gene may influence T lymphocyte subpopulations and can be considered as a candidate gene affecting immunity in pigs.

소 성장호르몬 유전자의 Exon 5번에서의 새로운 다형성 연구 (A Missense Mutation in Exon 5 of the Bovine Growth Hormone Gene)

  • 윤두학;김태헌;이경희;박응우;이학교;정일정;홍기창
    • Journal of Animal Science and Technology
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    • 제45권1호
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    • pp.13-22
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    • 2003
  • 성장호르몬 유전자는 하나의 작은 공통 선조 유전자로부터 아주 오랜 기간동안 유전자 중복에 의해 진화되어 온 그룹들 중의 하나이다. 이들에 속하는 유전자들은 동물 종간에 구조적인 상동성과 기능적 공통성 등 유사성이 비교적 높게 나타난다. 이런 연구결과들을 근거로 하여 소 성장호르몬 유전자에서 아미노산을 암호화하는 영역으로부터 새로운 아미노산의 변이(missense mutation)를 검출하였고, 이 변이의 대립유전자 빈도는 소(cattle)의 종(species) 및 품종의 지리적 분포에 따라 일정한 경향 치를 보여 주었다. 한편 변경되어진 아미노산은 Tryptophan으로 이는 생물체에 존재하는 많은 단백질들을 구성하는 아미노산중에서도 그 출현빈도가 가장 낮은 것이다. 또한 검출된 변이는 성장호르몬이 그의 수용체와 강하게 결합하는 부위로서, 성장호르몬의 구조적 변이를 초래하여 수용체와의 결합이 비정상적으로 이루어져, 이후 성장호르몬이 표적세포로의 신호전달과 같은 역할을 제대로 수행치 못하게 되고, 이로 인하여 가축의 표현되어지는 경제형질에 영향을 미칠 것으로 추정된다. 그러므로 이러한 대립유전자를 보유하는 개체는 집단에서 제거하는 방법에 의한 개량이 가능할 것으로 사료된다.