• 제목/요약/키워드: phenotype data

검색결과 222건 처리시간 0.027초

LINC00174 Facilitates Proliferation and Migration of Colorectal Cancer Cells via MiR-3127-5p/ E2F7 Axis

  • Ma, Yuhong;Li, Yuzhen;Tang, Yuanyuan;Tang, Ning;Wang, Dengke;Li, Xiaofei
    • Journal of Microbiology and Biotechnology
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    • 제31권8호
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    • pp.1098-1108
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    • 2021
  • The literature indicates that LINC00174 promotes the growth of colorectal cancer (CRC) cells, but its research needs to be enriched. We tried to explore the function and mechanism of LINC00174 in CRC cell proliferation and migration. Bioinformatics analysis predicted the binding relationship and expressions of lncRNA, miRNA and mRNA. Clinical study analyzes the relationship between LINC00174 and clinical data characteristics of CRC patients. The expressions of LINC00174, miR-3127-5p and E2F7 were verified by RT-qPCR, and the combination of the two was verified by dual luciferase analysis and RNA immunoprecipitation as needed. Western blot was used to detect the expression of EMT-related protein and E2F7 protein. Functional experiments were used to evaluate the function of the target gene on CRC cells. LINC00174 was up-regulated in CRC clinical samples and cells and was related to the clinical characteristics of CRC patients. High-expression of LINC00174, contrary to the effect of siLINC00174, promoted cell viability, proliferation, migration and invasion, up-regulated the expressions of N-Cadherin, Vimentin, E2F7, and inhibited the expression of E-Cadherin. MiR-3127-5p was one of the targeted miRNAs of LINC00174 and was down-regulated in CRC samples. In addition, miR-3127-5p mimic partially reversed the malignant phenotype of CRC cells induced by LINC00174. Besides, E2F7 was a target gene of miR-3127-5p, and LINC00174 repressed miR-3127-5p to regulate E2F7. Our research reveals that LINC00174 affected the biological characteristics of CRC cells through regulated miR-3127-5p/ E2F7 axis.

소비자대상 직접 (DTC) 비만유전자 기반 정밀영양 (PNH)의 국내 현황 (Domestic development situation of precision nutrition healthcare (PNH) system based on direct-to-consumer (DTC) obese genes)

  • 김오연;이명숙;이정희;손정민;윤미옥
    • Journal of Nutrition and Health
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    • 제55권6호
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    • pp.601-616
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    • 2022
  • In the era of the fourth industrial revolution technology, the inclusion of personalized nutrition for healthcare (PNH), when establishing a healthcare platform to prevent chronic diseases such as obesity, diabetes, cerebrovascular and cardiovascular disease, pulmonary disease, and inflammatory diseases, enhances the national competitiveness of global healthcare markets. Furthermore, since the government experienced COVID-19 and the population dead cross in 2020, as well as numerous health problems due to an increasing super-aged Korean society, there is an urgent need to secure, develop, and utilize PNH-related technologies. Three conditions are essential for the development of PNH technologies. These include the establishment of causality between obesity genome (genotype) and prevalence (phenotype) in Koreans, validation of clinical intervention research, and securing PNH-utilization technology (i.e., algorithm development, artificial intelligence-based platform, direct-to-customer [DTC]-based PNH, etc.). Therefore, a national control tower is required to establish appropriate PNH infrastructure (basic and clinical research, cultivation of PNH-related experts, etc.). The post-corona era will be aggressive in sharing data knowledge and developing related technologies, and Korea needs to actively participate in the large-scale global healthcare markets. This review provides the importance of scientific evidence based on a huge dataset, which is the primary prerequisite for the DTC obesity gene-based PNH technologies to be competitive in the healthcare market. Furthermore, based on comparing domestic and internationally approved DTC obese genes and the current status of Korean obesity genome-based PNH research, we intend to provide a direction to PNH planners (individuals and industries) for establishing scientific PNH guidelines for the prevention of obesity.

Ubiquitin E3 ligases in cancer: somatic mutation and amplification

  • Eun-Hye Jo;Mi-Yeon Kim;Hyung-Ju Lee;Hee-Sae Park
    • BMB Reports
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    • 제56권5호
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    • pp.265-274
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    • 2023
  • Defects in DNA double-strand break (DSB) repair signaling permit cancer cells to accumulate genomic alterations that confer their aggressive phenotype. Nevertheless, tumors depend on residual DNA repair abilities to survive the DNA damage induced by genotoxic stress. This is why only isolated DNA repair signaling is inactivated in cancer cells. DNA DSB repair signaling contributes to general mechanism for various types of lesions in diverse cell cycle phases. DNA DSB repair genes are frequently mutated and amplified in cancer; however, limited data exist regarding the overall genomic prospect and functional result of these modifications. We list the DNA repair genes and related E3 ligases. Mutation and expression frequencies of these genes were analyzed in COSMIC and TCGA. The 11 genes with a high frequency of mutation differed between cancers, and mutations in many DNA DSB repair E3 ligase genes were related to a higher total mutation burden. DNA DSB repair E3 ligase genes are involved in tumor suppressive or oncogenic functions, such as RNF168 and FBXW7, by assisting the functionality of these genomic alterations. DNA damage response-related E3 ligases, such as RNF168, FBXW7, and HERC2, were generated with more than 10% mutation in several cancer cells. This study provides a broad list of candidate genes as potential biomarkers for genomic instability and novel therapeutic targets in cancer. As a DSB related proteins considerably appear the possibilities for targeting DNA repair defective tumors or hyperactive DNA repair tumors. Based on recent research, we describe the relationship between unstable DSB repairs and DSB-related E3 ligases.

RNA Editing Enzyme ADAR1 Suppresses the Mobility of Cancer Cells via ARPIN

  • Min Ji Park;Eunji Jeong;Eun Ji Lee;Hyeon Ji Choi;Bo Hyun Moon;Keunsoo Kang;Suhwan Chang
    • Molecules and Cells
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    • 제46권6호
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    • pp.351-359
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    • 2023
  • Deamination of adenine or cytosine in RNA, called RNA editing, is a constitutively active and common modification. The primary role of RNA editing is tagging RNA right after its synthesis so that the endogenous RNA is recognized as self and distinguished from exogenous RNA, such as viral RNA. In addition to this primary function, the direct or indirect effects on gene expression can be utilized in cancer where a high level of RNA editing activity persists. This report identified actin-related protein 2/3 complex inhibitor (ARPIN) as a target of ADAR1 in breast cancer cells. Our comparative RNA sequencing analysis in MCF7 cells revealed that the expression of ARPIN was decreased upon ADAR1 depletion with altered editing on its 3'UTR. However, the expression changes of ARPIN were not dependent on 3'UTR editing but relied on three microRNAs acting on ARPIN. As a result, we found that the migration and invasion of cancer cells were profoundly increased by ADAR1 depletion, and this cellular phenotype was reversed by the exogenous ARPIN expression. Altogether, our data suggest that ADAR1 suppresses breast cancer cell mobility via the upregulation of ARPIN.

Characterization of Purple-discolored, Uppermost Leaves of Soybean; QTL Mapping, HyperspectraI Imaging, and TEM Observation

  • JaeJin Lee;Jeongsun Lee;Seongha Kwon;Heejin You;Sungwoo Lee
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.187-187
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    • 2022
  • Purple-discoloration of the uppermost leaves has been observed in some soybean cultivars in recent years. The purpose of this study was to characterize the novel phenotypic changes between the uppermost and middle leaves via multiple approaches. First, quantitative trait loci mapping was conducted to detect loci associated with the novel phenotype using 85 recombinant inbred lines (RILs) of the 'Daepung' × PI 96983 population. 180K SNP data, a major quantitative trait locus (QTL) was identified at around 60 cM of chromosome 6, which accounts for 56% of total phenotypic variance. The genomic interval is about ~700kb, and a list of annotated genes includes the T-gene which is known to control pubescence and seed coat color and is presumed to encode flavonoid 35-hydroxylase (F3'H). Based on Hyperspectral imaging, the reflectance at 528-554 nm wavelength band was extremely reduced in the uppermost leaves compared to the middle (green leaves), which is presumed die to the accumulation of anthocyanins. In addition, purple-discolored leaf tissues were observed and compared to normal leaves using a transmission electronic microscope (TEM). Base on observations of the cell organelles, the purple-discolored uppermost leaves had many pigments formed in the epidermal cells unlike the normal middle leaves, and the cell wall thickness was twice as thick in the discolored leaves. The thickness of the thylakoid layer in the chloroplast the number of starch grains, the size of starch all decreased in the discolored leaves, while the number of plastoglobule and mitochondria increased.

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GWAS of Salt Tolerance and Drought Tolerance in Korean Wheat Core Collection

  • Ji Yu Jeong;Kyeong Do Min;Jae Toon Kim
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.195-195
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    • 2022
  • Abiotic stress is a major problem in global agriculture as it negatively affects crop growth, yield, and quality. Wheat (Triticum aestivum) is the world's second-highest-producing food resource, so the importance of mitigating damage caused by abiotic stress has been emerging. In this study, we performed GWAS to search for SNPs associated with salt tolerance and drought tolerance. NaCl (200 mM) treatment was performed at the seedling stage using 613 wheat varieties in Korean wheat core collection. Root length, root surface area, root average diameter, and root volume were measured. Drought stress was applied at the seedling stage, and the above phenotypes were measured. GW AS was performed for each phenotype data using the MLM, MLMM, and FarmCPU models. The best salt-tolerant wheat varieties were 'MK2402', 'Gyeongnam Geochang-1985-3698', and 'Milyang 13', showing superior root growth. The significant SNP AX-94704125 (BA00756838) were identified in all models. The genes closely located to the significant SNP were searched within ± 250 kb of the corresponding SNP. A total of 11 genes were identified within the region. NB-ARC involved in the defense response, FKSI involved in cell wall biosynthesis, and putative BP Ml involved in abiotic stress responses were discovered in the 11 genes. The best drought-tolerant wheat varieties were 'PI 534284', 'Moro of Sind', and 'CM92354-33M-0Y-0M-6Y-0B-0BGD', showing superior root growth. This study discovered SNPs associated with salt tolerance in Korean wheat core collection through GWAS. GWAS of drought tolerance is now proceeding, and the GWAS results will be represented on a poster. The SNPs identified by GWAS can be useful for studying molecular mechanisms of salt tolerance and drought tolerance in wheat.

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The Prediction Ability of Genomic Selection in the Wheat Core Collection

  • Yuna Kang;Changsoo Kim
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2022년도 추계학술대회
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    • pp.235-235
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    • 2022
  • Genome selection is a promising tool for plant and animal breeding, which uses genome-wide molecular marker data to capture large and small effect quantitative trait loci and predict the genetic value of selection candidates. Genomic selection has been shown previously to have higher prediction accuracies than conventional marker-assisted selection (MAS) for quantitative traits. In this study, the prediction accuracy of 10 agricultural traits in the wheat core group with 567 points was compared. We used a cross-validation approach to train and validate prediction accuracy to evaluate the effects of training population size and training model.As for the prediction accuracy according to the model, the prediction accuracy of 0.4 or more was evaluated except for the SVN model among the 6 models (GBLUP, LASSO, BayseA, RKHS, SVN, RF) used in most all traits. For traits such as days to heading and days to maturity, the prediction accuracy was very high, over 0.8. As for the prediction accuracy according to the training group, the prediction accuracy increased as the number of training groups increased in all traits. It was confirmed that the prediction accuracy was different in the training population according to the genetic composition regardless of the number. All training models were verified through 5-fold cross-validation. To verify the prediction ability of the training population of the wheat core collection, we compared the actual phenotype and genomic estimated breeding value using 35 breeding population. In fact, out of 10 individuals with the fastest days to heading, 5 individuals were selected through genomic selection, and 6 individuals were selected through genomic selection out of the 10 individuals with the slowest days to heading. Therefore, we confirmed the possibility of selecting individuals according to traits with only the genotype for a shorter period of time through genomic selection.

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Univariate and Multivariate Analysis of Phenotypic Traits in Mung Beans Reveals Diversity Among Korean, Indian, and Chinese Accessions

  • Kebede Taye Desta;Young-ah Jeon;Myoung-Jae Shin;Yu-Mi Choi;Jungyoon Yi;Hyemyeong Yoon
    • 한국자원식물학회지
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    • 제37권3호
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    • pp.270-306
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    • 2024
  • This study investigated the diversity of 323 mung bean accessions from Korea, China, and India, along with six cultivars, using 22 agronomical traits. The standardized Shannon-Weaver index (H') for the qualitative traits ranged from 0.11 (terminal leaflet shape) to 0.98 (pubescence density of pod). Likewise, the coefficient of variation for the quantitative traits ranged from 8.76% (days to maturity (DM)) to 79.91% (lodging rate (LR)), indicating a wide genetic variance. Hypocotyl color, pod color, seed shape, and seed coat surface lust showed different distributions among Korean, Indian, and Chinese accessions. Chinese accessions had the highest average germination rate, DM, days from flowering to maturity, and one-hundred seeds weight, followed by Korean and Indian accessions, while the number of seeds per pod (SPP) displayed the opposite trend, with all except SPP showing significant variation (p < 0.05). Similarly, plant height, days to flowering, and number of pods per plant increased in the order of India > Korea > China, with LR showing the opposite trend (p < 0.05). The mung bean accessions were grouped into four major clusters using hierarchical cluster analysis supported by principal component analyses, and all of the quantitative traits showed significant variations between the clusters (p < 0.05). Generally, the mung bean accessions investigated in this study exhibited wide phenotypic trait variations, which could be beneficial for future genomics studies. Moreover, this study identified 77 accessions that outperformed the controls. Consequently, these superior accessions could provide a wide spectrum of options during the development of improved mung bean varieties.

I형 뮤코다당증 환자들에서 효소 보충 요법이 성장에 미치는 영향 (Effect of Enzyme Replacement Therapy on Growth in Korean Patients with Mucopolysaccharidosis Type I)

  • 허림;조성윤;장미선;이지은;권영희;김수진;손영배;박성원;맹세현;권은경;한선주;정주연;진동규
    • 대한유전성대사질환학회지
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    • 제13권2호
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    • pp.111-119
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    • 2013
  • 목적: I형 뮤코다당증 (MPS I)은 ${\alpha}$-L-iduronidase 효소의 결핍으로 인하여 발생하는 리소좀 축적 질환으로, 광범위한 양상으로 다기관에 영향을 미친다. 저신장과 성장 속도의 감소는 MPS I의 중요한 특징이다. 본 연구에서는 효소 보충 요법이 MPS I 환자들의 성장에 미치는 효과에 대해 알아보기 위하여 단일 기관의 환자들을 대상으로 분석하였다. 방법: 2세에서 15세 사이에 효소 보충 요법을 시작하여 최소 3년 이상의 치료를 시행 받은 10명의 한국 MPS I 환자들의 키 측정치를 후향적으로 분석하였다. 효소 보충 요법 시작시의 평균 나이는 7년 7개월 이였으며, 남아는 6명, 여아는 4명 이였다. 키는 표준 편차(SDS)로 표현되었다. 효소 보충 요법 전과 후의 연간 성장 속도를 계산하였으며, 구분회귀모델을 이용하여 치료 전과 후의 키 z-score를 분석하였다. 표현형[(중증(Hurler) versus 경증(Hurler-Scheie, Scheie)]이 성장에 미치는 영향에 대해서는 개별 분석을 시행하였다. 결과: 효소 보충 요법 전 1년 동안의 연간 성장은 3.3 cm (z-score=-0.21) 였으며, 효소 보충 요법 후 1년, 2년, 3년에서는 각각 6.2 cm (z-score=0.17), 5.8 cm (z-score=0.07), 3.8 cm (z-score=-0.4)이였다. 회귀분석 결과, 효소 보충 요법 전에 비하여 치료 후 기울기에 유의한 호전을 보였다(기울기 차이=0.04; P=0.022). 중증과 경증 표현형 간의 치료 전(P=0.001)과 후(P<0.0001)의 기울기 차이는 통계적으로 유의하였으나, 표현형에 따라 분석하였을 때 통계적으로 유의한 차이는 보이지 않았다. 결론: MPS I 환자들의 키 성장에 있어 aldurazyme 효소 보충 요법이 긍정적인 효과를 미치는 것으로 보인다.

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고품질 한우 생산 유전자 연구에서 환경 요인을 보정한 통계적 모형 제안 (Proposal of statistical model adjusted environmental factor in genetic research for high quality Hanwoo production)

  • 장지은;이제영;오동엽
    • Journal of the Korean Data and Information Science Society
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    • 제26권6호
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    • pp.1397-1407
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    • 2015
  • 개체의 표현형은 대부분 유전적인 요인의 영향과 환경적인 요인의 영향을 모두 받는다. 따라서 한우의 경제적인 특성과 연관이 있는 유전자 마커 선별 연구에서도 관심이 있는 유전적인 요인의 효과를 좀 더 정확히 보기 위해서는 환경적인 요인의 보정이 필요하다. 본 연구의 목적은 고품질 한우 생산을 위한 우수 유전자 마커 선별 연구에서 환경적인 요인이 보정된 새로운 통계 모형을 제안하고 그 효과를 규명하는 데 있다. 먼저 환경적인 요인과 유전적인 요인을 모두 포함한 통계모형을 구축한 뒤, 환경적인 요인인 도축일령과 사육농가의 효과를 제거하여 보정된 경제형질의 값을 구한다. 그리고 다중인자차원축소 방법을 보정 전 후 데이터에 각각 적용하여 우수 유전자 마커 조합을 선별하고 정확도를 비교한다. 사용된 경제형질은 C18:1, SFA, MUFA, MS, CWT, BFT이며 사용된 유전자 마커는 49개 LPL 유전자 마커 중 지방산 조성 및 경제 형질 능력 검정을 통해 나머지에 비해 더 뛰어난 유전자 마커로 선별된 6개 (g.6960 A>T, g.6974 G>A, g.21604 G>A, g.22488 G>T, g.22649 G>A, g.25670 C>T)이다.