• 제목/요약/키워드: Gene Prediction

검색결과 295건 처리시간 0.029초

Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • 제13권2호
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    • pp.95-98
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    • 2016
  • We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

암 분류를 위한 음의 상관관계 특징을 이용한 앙상블 분류기 (Ensemble Classifier with Negatively Correlated Features for Cancer Classification)

  • 원홍희;조성배
    • 한국정보과학회논문지:소프트웨어및응용
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    • 제30권12호
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    • pp.1124-1134
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    • 2003
  • 최근의 DNA 마이크로어레이 기술로 많은 양의 유전자 데이타를 얻을 수 있는데, 특히 암의 진단과 치료에 적용되어 암의 정확한 분류에 많은 도움을 줄 것으로 기대된다. DNA로부터 얻어지는 유전자 데이타의 양은 매우 방대하므로 이를 효과적으로 분석하는 것은 매우 중요하다. 암의 분류는 진단과 치료에 있어 매우 중요하므로 하나의 분류기에 의존한 분류 결과보다는 다수의 전문화된 분류기 결과를 결합하여 결과를 도출하는 것이 바람직하다. 일반적으로 분류기를 결합함으로써 분류 성능 및 분류 결과에 대한 신뢰도를 높일 수 있다. 앙상블 분류기의 많은 장점에도 불구하고, 오류 의존적인 분류기의 결합은 성능 향상에 한계가 있다. 본 논문에서는 암을 정확하게 분류하기 위해서 음의 상관관계를 갖는 특징으로 학습한 신경망 분류기를 결합하는 방법을 제안하고, 제안한 방법의 유용성을 체계적으로 분석하고자 한다. 세 가지 벤치마크 암 데이타에 대하여 제안한 방법을 적용하여 실험한 결과, 음의 상관관계 특징을 이용한 앙상블 분류기가 다른 분류기보다 높은 성능을 내는 것을 확인할 수 있었다.

Matrix Metalloproteinase-13 - A Potential Biomarker for Detection and Prognostic Assessment of Patients with Esophageal Squamous Cell Carcinoma

  • Sedighi, Maryam;Aledavood, Seyed Amir;Abbaszadegan, MR;Memar, Bahram;Montazer, Mehdi;Rajabian, Majid;Gholamin, Mehran
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권6호
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    • pp.2781-2785
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    • 2016
  • Background: Matric metalloproteinase (MMP) 13 gene expression is increased in esophageal squamous cell carcinomas (ESCCs) and associated with increasing tumor invasion, lymph node involvement and decreased survival rates. Levels of the circulating enzyme may be elevated and used as a marker of tumor progression. In this study, clinical application of MMP-13 serum levels was evaluated for early detection, prediction of prognosis and survival time of ESCC patients. Materials and Methods: Serum levels of MMP13 were determined by ELISA in 66 ESCC patients prior of any treatment and 54 healthy controls for comparison with clinicopathological data through statistical analysis with Man Whitney U and Log-Rank tests. In addition, clinical value of MMP13 levels for diagnosis was evaluated by receiver operating characteristic (ROC) test. Results: The serum level of MMP-13 in patients (>250 pg/ml) was significantly higher than in the control group (<100 pg/ml) (p value=0.004). Also the results showed a significant correlation between MMP-13 serum levels with tumor stage (p value = 0.003), depth of tumor invasion (p value=0.008), involvement of lymph nodes (p value = 0.011), tumor size (p value = 0.018) and survival time. While there were no significant correlation with grade and location of tumors. ROC analysis showed that MMP-13 level is an accurate diagnostic marker especially to differentiate pre-invasive/ invasive lesions from normal controls (sensitivity and specificity: 100%). Conclusions: These findings indicate a potential clinical significance of serum MMP13 measurement for early detection and prognostic assessment in ESCC patients.

MicroRNA expression profiling during the suckling-to-weaning transition in pigs

  • Jang, Hyun Jun;Lee, Sang In
    • Journal of Animal Science and Technology
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    • 제63권4호
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    • pp.854-863
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    • 2021
  • Weaning induces physiological changes in intestinal development that affect pigs' growth performance and susceptibility to disease. As a posttranscriptional regulator, microRNAs (miRNAs) regulate cellular homeostasis during intestinal development. We performed small RNA expression profiling in the small intestine of piglets before weaning (BW), 1 week after weaning (1W), and 2 weeks after weaning (2W) to identify weaning-associated differentially expressed miRNAs. We identified 38 differentially expressed miRNAs with varying expression levels among BW, 1W, and 2W. Then, we classified expression patterns of the identified miRNAs into four types. ssc-miR-196a and ssc-miR-451 represent pattern 1, which had an increased expression at 1W and a decreased expression at 2W. ssc-miR-499-5p represents pattern 2, which had an increased expression at 1W and a stable expression at 2W. ssc-miR-7135-3p and ssc-miR-144 represent pattern 3, which had a stable expression at 1W and a decreased expression at 2W. Eleven miRNAs (ssc-miR-542-3p, ssc-miR-214, ssc-miR-758, ssc-miR-4331, ssc-miR-105-1, ssc-miR-1285, ssc-miR-10a-5p, ssc-miR-4332, ssc-miR-503, ssc-miR-6782-3p, and ssc-miR-424-5p) represent pattern 4, which had a decreased expression at 1W and a stable expression at 2W. Moreover, we identified 133 candidate targets for miR-196a using a target prediction database. Gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses revealed that the target genes were associated with 19 biological processes, 4 cellular components, 8 molecular functions, and 7 KEGG pathways, including anterior/posterior pattern specification as well as the cancer, PI3K-Akt, MAPK, GnRH, and neurotrophin signaling pathways. These findings suggest that miRNAs regulate the development of the small intestine during the weaning process in piglets by anterior/posterior pattern specification as well as the cancer, PI3K-Akt, MAPK, GnRH, and neurotrophin signaling pathways.

Prediction of Rice Embryo Proteins using EST-Databases

  • Woo, Sun-Hee;Cho, Seung-Woo;Kim, Tae-Seon;Chung, Keun-Yook;Cho, Yong-Gu;Kim, Hong-Sig;Song, Beom-Heon;Lee, Chul-Won;Jong, Seung-Keun
    • 한국육종학회지
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    • 제40권1호
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    • pp.1-7
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    • 2008
  • An attempt was made to link rice embryo proteins to DNA sequences and to understand their functions. One hundred of the 700 spots detected on the embryo 2-DE gels were microsequenced. Of these, 28% of the embryo proteins were matched to DNA sequences with known functions, but 72% of the proteins were unknown in functions as previously reported (Woo et al. 2002). In addition, twenty-four protein spots with 100% of homology and nine with over 80% were matched to ESTs (expressed sequence tags) after expanding the amino acid sequences of the protein spots by Database searches using the available rice EST databases at the NCBI (http://www/ncbi.nlm.nih.gov/) and DDBJ (http://www.ddbj.nig.ac.jp/). The chromosomal location of some proteins were also obtained from the rice genetic map provided by Japanese Rice Genome Research Program (http://rgp.dna.affrc.go.jp). The DNA sequence databases including EST have been reported for rice (Oryza sativa L.) now provides whole or partial gene sequence, and recent advances in protein characterization allow the linking proteins to DNA sequences in the functional analysis. This work shows that proteome analysis could be a useful tool strategy to link sequence information and to functional genomics.

Integrated mRNA and miRNA profile expression in livers of Jinhua and Landrace pigs

  • Huang, Minjie;Chen, Lixing;Shen, Yifei;Chen, Jiucheng;Guo, Xiaoling;Xu, Ningying
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권10호
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    • pp.1483-1490
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    • 2019
  • Objective: To explore the molecular mechanisms of fat metabolism and deposition in pigs, an experiment was conducted to identify hepatic mRNAs and miRNAs expression and determine the potential interaction of them in two phenotypically extreme pig breeds. Methods: mRNA and miRNA profiling of liver from 70-day Jinhua (JH) and Landrace (LD) pigs were performed using RNA sequencing. Blood samples were taken to detect results of serum biochemistry. Bioinformatics analysis were applied to construct differentially expressed miRNA-mRNA network. Results: Serum total triiodothyronine and total thyroxine were significantly lower in Jinhua pigs, but the content of serum total cholesterol (TCH) and low-density lipoprotein cholesterol were strikingly higher. A total of 467 differentially expressed genes (DEGs) and 35 differentially expressed miRNAs (DE miRNAs) were identified between JH and LD groups. Gene ontology analysis suggested that DEGs were involved in oxidation-reduction, lipid biosynthetic and lipid metabolism process. Interaction network of DEGs and DE miRNAs were constructed, according to target prediction results. Conclusion: We generated transcriptome and miRNAome profiles of liver from JH and LD pig breeds which represent distinguishing phenotypes of growth and metabolism. The potential miRNA-mRNA interaction networks may provide a comprehensive understanding in the mechanism of lipid metabolism. These results serve as a basis for further investigation on biological functions of miRNAs in the porcine liver.

siRNAs Derived from Cymbidium Mosaic Virus and Odontoglossum Ringspot Virus Down-modulated the Expression Levels of Endogenous Genes in Phalaenopsis equestris

  • Lan, Han-hong;Wang, Cui-mei;Chen, Shuang-shuang;Zheng, Jian-ying
    • The Plant Pathology Journal
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    • 제35권5호
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    • pp.508-520
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    • 2019
  • Interplay between Cymbidium mosaic virus (CymMV)/Odontoglossum ringspot virus (ORSV) and its host plant Phalaenopsis equestris remain largely unknown, which led to deficiency of effective measures to control disease of P. equestris caused by infecting viruses. In this study, for the first time, we characterized viral small interfering RNAs (vsiRNAs) profiles in P. equestris co-infected with CymMV and ORSV through small RNA sequencing technology. CymMV and ORSV small interfering RNAs (siRNAs) demonstrated several general and specific/new characteristics. vsiRNAs, with A/U bias at the first nucleotide, were predominantly 21-nt long and they were derived predominantly (90%) from viral positive-strand RNA. 21-nt siRNA duplexes with 0-nt overhangs were the most abundant 21-nt duplexes, followed by 2-nt overhangs and then 1-nt overhangs 21-nt duplexes in infected P. equestris. Continuous but heterogeneous distribution and secondary structures prediction implied that vsiRNAs originate predominantly by direct Dicer-like enzymes cleavage of imperfect duplexes in the most folded regions of the positive strand of both viruses RNA molecular. Furthermore, we totally predicted 54 target genes by vsiRNAs with psRNATarget server, including disease/stress response-related genes, RNA interference core components, cytoskeleton-related genes, photosynthesis or energy supply related genes. Gene Ontology classification showed that a majority of the predicted targets were related to cellular components and cellular processes and performed a certain function. All target genes were down-regulated with different degree by vsiRNAs as shown by real-time reverse transcription polymerase chain reaction. Taken together, CymMV and ORSV siRNAs played important roles in interplay with P. equestris by down modulating the expression levels of endogenous genes in host plant.

크라우드 소싱 기반 딥러닝 선호 학습을 위한 쌍체 비교 셋 생성 (Generating Pairwise Comparison Set for Crowed Sourcing based Deep Learning)

  • 유기현;이동기;이창우;남광우
    • 한국산업정보학회논문지
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    • 제27권5호
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    • pp.1-11
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    • 2022
  • 딥러닝 기술의 발전에 따라 학습을 통해 선호도 랭킹 추정을 하기 위한 다양한 연구 개발이 진행되고 있으며, 웹 검색, 유전자 분류, 추천 시스템, 이미지 검색 등 여러 분야에 걸쳐 이용되고 있다. 딥러닝 기반의 선호도 랭킹을 추정하기 위해 근사(approximation) 알고리즘을 이용하는데, 이 근사 알고리즘에서 적정한 정도의 정확도를 보장할 수 있도록 모든 비교 대상에 k번 이상의 비교셋을 구축하게 되며, 어떻게 비교셋을 구축하느냐가 학습에 영향을 끼치게 된다. 이 논문에서는 크라우드 소싱 기반의 딥러닝 선호도 측정을 위한 쌍체 비교 셋을 생성하는 새로운 알고리즘인 k-disjoint 비교셋 생성 알고리즘과 k-체이닝 비교셋 생성 알고리즘을 제안한다. 특히 k-체이닝 알고리즘은 기존의 원형 생성 알고리즘과 같이 데이터 간의 연결성을 보장하면서도 안정적인 선호도 평가를 지원할 수 있는 랜덤적 성격도 함께 가지고 있음을 실험에서 확인하였다.

Assessment of Erythrobacter Species Diversity through Pan-Genome Analysis with Newly Isolated Erythrobacter sp. 3-20A1M

  • Cho, Sang-Hyeok;Jeong, Yujin;Lee, Eunju;Ko, So-Ra;Ahn, Chi-Yong;Oh, Hee-Mock;Cho, Byung-Kwan;Cho, Suhyung
    • Journal of Microbiology and Biotechnology
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    • 제31권4호
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    • pp.601-609
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    • 2021
  • Erythrobacter species are extensively studied marine bacteria that produce various carotenoids. Due to their photoheterotrophic ability, it has been suggested that they play a crucial role in marine ecosystems. It is essential to identify the genome sequence and the genes of the species to predict their role in the marine ecosystem. In this study, we report the complete genome sequence of the marine bacterium Erythrobacter sp. 3-20A1M. The genome size was 3.1 Mbp and its GC content was 64.8%. In total, 2998 genetic features were annotated, of which 2882 were annotated as functional coding genes. Using the genetic information of Erythrobacter sp. 3-20A1M, we performed pan-genome analysis with other Erythrobacter species. This revealed highly conserved secondary metabolite biosynthesis-related COG functions across Erythrobacter species. Through subsequent secondary metabolite biosynthetic gene cluster prediction and KEGG analysis, the carotenoid biosynthetic pathway was proven conserved in all Erythrobacter species, except for the spheroidene and spirilloxanthin pathways, which are only found in photosynthetic Erythrobacter species. The presence of virulence genes, especially the plant-algae cell wall degrading genes, revealed that Erythrobacter sp. 3-20A1M is a potential marine plant-algae scavenger.

Genomic Analysis of 13 Putative Active Prophages Located in the Genomes of Walnut Blight Pathogen Xanthomonas arboricola pv. juglandis

  • Cao, Zheng;Cuiying, Du;Benzhong, Fu
    • 한국미생물·생명공학회지
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    • 제50권4호
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    • pp.563-573
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    • 2022
  • Xanthomonas arboricola pv. juglandis (Xaj) is a globally important bacterial pathogen of walnut trees that causes substantial economic losses in commercial walnut production. Although prophages are common in bacterial plant pathogens and play important roles in bacterial diversity and pathogenicity, there has been limited investigation into the distribution and function of prophages in Xaj. In this study, we identified and characterized 13 predicted prophages from the genomes of 12 Xaj isolates from around the globe. These prophages ranged in length from 11.8 kb to 51.9 kb, with between 11-75 genes and 57.82-64.15% GC content. The closest relatives of these prophages belong to the Myoviridae and Siphoviridae families of the Caudovirales order. The phylogenetic analysis allowed the classification of the prophages into five groups. The gene constitution of these predicted prophages was revealed via Roary analysis. Amongst 126 total protein groups, the most prevalent group was only present in nine prophages, and 22 protein groups were present in only one prophage (singletons). Also, bioinformatic analysis of the 13 identified prophages revealed the presence of 431 genes with an average length of 389.7 bp. Prokka annotation of these prophages identified 466 hypothetical proteins, 24 proteins with known function, and six tRNA genes. The proteins with known function mainly comprised prophage integrase IntA, replicative DNA helicase, tyrosine recombinase XerC, and IS3 family transposase. There was no detectable insertion site specificity for these prophages in the Xaj genomes. The identified Xaj prophage genes, particularly those of unknown function, merit future investigation.