• 제목/요약/키워드: phenotype data

검색결과 219건 처리시간 0.022초

The Potato Transcriptional Co-activator StMBF1 Is Up-regulated in Response to Oxidative Stress and Interacts with the TATA-box Binding Protein

  • Arce, Debora Pamela;Tonon, Claudia;Zanetti, Maria Eugenia;Godoy, Andrea Veronica;Hirose, Susumu;Casalongue, Claudia Anahi
    • BMB Reports
    • /
    • 제39권4호
    • /
    • pp.355-360
    • /
    • 2006
  • To gain a better understanding on the function of the potato Solanum tuberosum Multiprotein Bridging Factor 1 protein (StMBF1) its interaction with the TATA box binding protein (TBP) was demonstrated. In addition we reported that StMBF1 rescues the yeast mbf1 mutant phenotype, indicating its role as a plant co-activator. These data reinforce the hypothesis that MBF1 function is also conserved among non closely related plant species. In addition, measurement of StMBF1 protein level by Western blot using anti-StMBF1 antibodies indicated that the protein level increased upon $H_2O_2$ and heat shock treatments. However, the potato $\beta$-1,3-glucanase protein level was not changed under the same experimental conditions. These data indicate that StMBF1 participates in the cell stress response against oxidative stress allowing us to suggest that MBF1 genes from different plant groups may share similar functions.

제한된 분할방법과 한우 경제형질에서 유전자들간의 상호작용 (Restricted partition method and gene-gene interaction analysis with Hanwoo economic traits)

  • 이제영;김동철
    • Journal of the Korean Data and Information Science Society
    • /
    • 제20권1호
    • /
    • pp.171-178
    • /
    • 2009
  • 제한된 분할방법은 어떤 개체의 표현형을 가장 많이 설명할 수 있는 multilocus 유전자형들의 분할된 그룹을 찾는 것이며 연속형 데이터에 적합하다. 또한 이 방법은 인간의 여러 질병에 영향을 주는 유전자를 찾는 방법으로 주로 이용된다. 그러나 본 연구에서는 제한된 분할 방법을 인간의 질병뿐만 아니라 가축의 경제형질에도 적용할 수 있는 것을 보이기 위해 한우의 여러 경제형질인 등심단면적, 도체중과 일당증체량에 영향을 주는 유전자를 규명해 보았다. 그 결과 모든 경제형질에 영향을 주는 유전자로는 SNP (19_1)$^*$SNP (28_2)의 상호작용이 가장 좋은 SNP로 선정되었다. 따라서 이 유전자 SNP (19_1)$^*$SNP (28_2)가 한우의 경제형질에 가장 많은 영향을 준다는 것을 규명하였으며 제한된 분할 방법이 가축의 경제형질에도 적용할 수 있다는 것을 보였다.

  • PDF

Selection probability of multivariate regularization to identify pleiotropic variants in genetic association studies

  • Kim, Kipoong;Sun, Hokeun
    • Communications for Statistical Applications and Methods
    • /
    • 제27권5호
    • /
    • pp.535-546
    • /
    • 2020
  • In genetic association studies, pleiotropy is a phenomenon where a variant or a genetic region affects multiple traits or diseases. There have been many studies identifying cross-phenotype genetic associations. But, most of statistical approaches for detection of pleiotropy are based on individual tests where a single variant association with multiple traits is tested one at a time. These approaches fail to account for relations among correlated variants. Recently, multivariate regularization methods have been proposed to detect pleiotropy in analysis of high-dimensional genomic data. However, they suffer a problem of tuning parameter selection, which often results in either too many false positives or too small true positives. In this article, we applied selection probability to multivariate regularization methods in order to identify pleiotropic variants associated with multiple phenotypes. Selection probability was applied to individual elastic-net, unified elastic-net and multi-response elastic-net regularization methods. In simulation studies, selection performance of three multivariate regularization methods was evaluated when the total number of phenotypes, the number of phenotypes associated with a variant, and correlations among phenotypes are different. We also applied the regularization methods to a wild bean dataset consisting of 169,028 variants and 17 phenotypes.

Expression of miR-210 during erythroid differentiation and induction of γ-globin gene expression

  • Bianchi, Nicoletta;Zuccato, Cristina;Lampronti, Ilaria;Borgatti, Monica;Gambari, Roberto
    • BMB Reports
    • /
    • 제42권8호
    • /
    • pp.493-499
    • /
    • 2009
  • MicroRNAs (miRs) are a family of small noncoding RNAs that regulate gene expression by targeting mRNAs in a sequence specific manner, inducing translational repression or mRNA degradation. In this paper we have first analyzed by microarray the miR-profile in erythroid precursor cells from one normal and two thalassemic patients expressing different levels of fetal hemoglobin (one of them displaying HPFH phenotype). The microarray data were confirmed by RT-PCR analysis, and allowed us to identify miR-210 as an highly expressed miR in the erythroid precursor cells from the HPFH patient. When RT-PCR was performed on mithramycin-induced K562 cells and erythroid precursor cells, miR-210 was found to be induced in time-dependent and dose-dependent fashion, together with increased expression of the fetal $\gamma$-globin genes. Altogether, the data suggest that miR-210 might be involved in increased expression of $\gamma$-globin genes in differentiating erythroid cells.

Differences Regarding the Molecular Features and Gut Microbiota Between Right and Left Colon Cancer

  • Kim, Kwangmin;Castro, Ernes John T.;Shim, Hongjin;Advincula, John Vincent G.;Kim, Young-Wan
    • Annals of Coloproctology
    • /
    • 제34권6호
    • /
    • pp.280-285
    • /
    • 2018
  • For many years, developmental and physiological differences have been known to exist between anatomic segments of the colorectum. Because of different outcomes, prognoses, and clinical responses to chemotherapy, the distinction between right colon cancer (RCC) and left colon cancer (LCC) has gained attention. Furthermore, variations in the molecular features and gut microbiota between right and LCCs have recently been a hot research topic. CpG island methylator phenotype-high, microsatellite instability-high colorectal cancers are more likely to occur on the right side whereas tumors with chromosomal instability have been detected in approximately 75% of LCC patients and 30% of RCC patients. The mutation rates of oncogenes and tumor suppressor genes also differ between RCC and LCC patients. Biofilm is more abundant in RCC patients than LLC patients, as are Prevotella, Selenomonas, and Peptostreptococcus. Conversely, Fusobacterium, Escherichia/Shigella, and Leptotrichia are more abundant in LCC patients compared to RCC patients. Distinctive characteristics are apparent in terms of molecular features and gut microbiota between right and LCC. However, how or to what extent these differences influence diverging oncologic outcomes remains unclear. Further clinical and translational studies are needed to elucidate the causative relationship between primary tumor location and prognosis.

포장에서 작물의 뿌리분석을 위한 이미지 획득방법 (Imagery Acquisition Methods for Root Analysis in Crops under Field Conditions)

  • 김윤하
    • 한국작물학회지
    • /
    • 제66권4호
    • /
    • pp.452-458
    • /
    • 2021
  • 뿌리는 식물에서 양분과 수분을 흡수하는 가장 중요한 기관임에도 불구하고 분석방법에 어려움으로 인해 지상부에 비해 연구가 상대적으로 미비한 실정이다. 최근 이미지를 기반으로 작물의 표현형을 분석하는 기술이 급격하게 발달하고 있으며, 뿌리 연구에 있어서도 이미지를 다양하게 활용하고 있다. 뿌리분석은 목적에 따라 토양에서 분리 후 측정하는 방법과 토양에서 바로 측정하는 방식이 있으며, 각각의 방식들마다 장점과 단점이 있으므로 연구자의 상황에 맞게 활용할 수 있다. 이런 이유에서 본 리뷰에서는 이미지를 활용한 뿌리분석 방법들에 대해 소개하여 국내 연구자들의 뿌리 연구에 이용되기를 바란다.

Screening of Genetic Variations in Korean Native Duck using Next-Generation Resequencing Data

  • Eunjin Cho;Minjun Kim;Hyo Jun Choo;Jun Heon Lee
    • 한국가금학회지
    • /
    • 제50권3호
    • /
    • pp.187-191
    • /
    • 2023
  • Korean native ducks (KNDs) continue to have a high preference from consumers due to their excellent meat quality and taste characteristics. However, due to low productivity and fixed plumage color phenotype, it could not secure a large share in the domestic market compared to imported species. In order to improve the market share of KNDs, the genetic characteristics of the breed should be identified and used for improvement and selection. Therefore, this study was conducted to identify the genetic information of colored and white KNDs using next-generation resequencing data and screening for differences between the two groups. As a result of the analysis, the genetic variants that showed significant differences between the colored and white KND groups were mainly identified as mutations related to tyrosine activity. The variants were located in the genes that affect melanin synthesis and regulation, such as EGFR, PDGFRA, and DDR2, and these were reported as the candidate genes related to plumage pigmentation in poultry. Therefore, the results of this study are expected to be useful as a basis for understanding and utilizing the genetic characteristics of KNDs for genetic improvement and selection of white broiler KNDs.

채소 및 과일의 섭취가 백내장 유병율에 미치는 영향 : 2012년 국민건강영양조사 자료를 이용하여 (Intake of fruits and vegetables may modify the risk of cataract in Korean males: data from Korean National Health and Nutrition Examination Survey 2012)

  • 이은경;최정화;허영란
    • Journal of Nutrition and Health
    • /
    • 제51권5호
    • /
    • pp.423-432
    • /
    • 2018
  • 본 연구는 국민건강영양조사 자료 중 안검진이 가장 처음 진행된 2012년 자료를 바탕으로 남성 1,332명 (환자 222명) 및 여성 2,012명 (환자 337명)에서 나타난 채소 및 과일류 섭취 종류와 수준이 백내장에 미치는 영향을 분석하였다. 남자 대상자의 낮은 TVF, TV, NSV, NSVF 섭취량은 백내장 위험을 약 1.4 ~ 1.7배 증가시키는 것으로 나타났으나, 여자 대상자에서는 식이섭취와 백내장 위험도의 사이에 의미있는 상관성이 관찰되지 않았다. 본 연구결과는 한국인 남성의 백내장 위험률 감소를 위해 충분한 채소와 과일을 섭취이 권장되며, 이를 위해 다양한 보건 영양 정책의 개발과 효과적 시행이 필요함을 시사한다.

멜론 유전자원의 생육 평가와 과육색 유전형 분석 (Characterization of Phenotypic Traits and Application of Fruit Flesh Color Marker in Melon (Cucumis melo L.) Accessions)

  • 배익현;강한솔;정우진;유재황;이오흠;정희
    • 한국자원식물학회지
    • /
    • 제34권5호
    • /
    • pp.478-490
    • /
    • 2021
  • 멜론은 세계 각지에서 재배되는 경제적으로 중요한 작물중의 하나이다. 본 연구는 농업유전자원센터에서 수집 보관중인 멜론 유전자원을 대상으로 다양한 생육 특성을 특성을 조사하고, 멜론의 중요한 육종 형질중의 하나인 과육색의 유전형과 표현형을 조사하여 멜론 육종에 필요한 육종 재료 확보를 위한 기초 자료를 마련하고자 수행되었다. 총 219개의 멜론 유전자원을 대상으로 19개의 생육 특성과 PCA분석을 수행하고, 멜론의 중요한 육종 형질중의 하나인 과육색의 유전형을 조사하여 표현형과 비교하였다. 과육색은 오렌지색, 백색, 녹색, 유백색, 황색의 5가지로 분류하였으며, 이중 오렌지색이 87개로 가장 많았으며, 그 다음으로 백색이 75개였다. 그리고, 오렌지색과 녹색 과육 구별용 마커를 적용한 결과, 녹색 과육 21개의 경우는 표현형과 유전형 일치율이 100%였으며, 오렌지색의 경우는 98%, 백색은 97%, 유백색의 경우는 80%의 일치율을 보였다. 표현형과 유전형이 일치하는 않는 총 8개 유전자원의 염기서열을 분석한 결과, 3곳의 위치에서 단일염기다형성(SNP; single nucleotide polymorphism)이 있었다. 이러한 결과는 멜론의 과육색을 결정하는 아직 알려지지 않은 유전기작이 존재한다는 것을 제시하였으며, 본 연구에서 얻어진 다양한 유전자원의 생육조사 결과는 멜론 육종에 유용하게 쓰일 것으로 생각된다.

Epigenetic insights into colorectal cancer: comprehensive genome-wide DNA methylation profiling of 294 patients in Korea

  • Soobok Joe;Jinyong Kim;Jin-Young Lee;Jongbum Jeon;Iksu Byeon;Sae-Won Han;Seung-Bum Ryoo;Kyu Joo Park;Sang-Hyun Song;Sheehyun Cho;Hyeran Shim;Hoang Bao Khanh Chu;Jisun Kang;Hong Seok Lee;DongWoo Kim;Young-Joon Kim;Tae-You Kim;Seon-Young Kim
    • BMB Reports
    • /
    • 제56권10호
    • /
    • pp.563-568
    • /
    • 2023
  • DNA methylation regulates gene expression and contributes to tumorigenesis in the early stages of cancer. In colorectal cancer (CRC), CpG island methylator phenotype (CIMP) is recognized as a distinct subset that is associated with specific molecular and clinical features. In this study, we investigated the genome-wide DNA methylation patterns among patients with CRC. The methylation data of 1 unmatched normal, 142 adjacent normal, and 294 tumor samples were analyzed. We identified 40,003 differentially methylated positions with 6,933 (79.8%) hypermethylated and 16,145 (51.6%) hypomethylated probes in the genic region. Hypermethylated probes were predominantly found in promoter-like regions, CpG islands, and N shore sites; hypomethylated probes were enriched in open-sea regions. CRC tumors were categorized into three CIMP subgroups, with 90 (30.6%) in the CIMP-high (CIMP-H), 115 (39.1%) in the CIMP-low (CIMP-L), and 89 (30.3%) in the non-CIMP group. The CIMP-H group was associated with microsatellite instability-high tumors, hypermethylation of MLH1, older age, and right-sided tumors. Our results showed that genome-wide methylation analyses classified patients with CRC into three subgroups according to CIMP levels, with clinical and molecular features consistent with previous data.