Search results for: spatial gene
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3787

Search results for: spatial gene

3307 A Semantic and Concise Structure to Represent Human Actions

Authors: Tobias Strübing, Fatemeh Ziaeetabar

Abstract:

Humans usually manipulate objects with their hands. To represent these actions in a simple and understandable way, we need to use a semantic framework. For this purpose, the Semantic Event Chain (SEC) method has already been presented which is done by consideration of touching and non-touching relations between manipulated objects in a scene. This method was improved by a computational model, the so-called enriched Semantic Event Chain (eSEC), which incorporates the information of static (e.g. top, bottom) and dynamic spatial relations (e.g. moving apart, getting closer) between objects in an action scene. This leads to a better action prediction as well as the ability to distinguish between more actions. Each eSEC manipulation descriptor is a huge matrix with thirty rows and a massive set of the spatial relations between each pair of manipulated objects. The current eSEC framework has so far only been used in the category of manipulation actions, which eventually involve two hands. Here, we would like to extend this approach to a whole body action descriptor and make a conjoint activity representation structure. For this purpose, we need to do a statistical analysis to modify the current eSEC by summarizing while preserving its features, and introduce a new version called Enhanced eSEC or (e2SEC). This summarization can be done from two points of the view: 1) reducing the number of rows in an eSEC matrix, 2) shrinking the set of possible semantic spatial relations. To achieve these, we computed the importance of each matrix row in an statistical way, to see if it is possible to remove a particular one while all manipulations are still distinguishable from each other. On the other hand, we examined which semantic spatial relations can be merged without compromising the unity of the predefined manipulation actions. Therefore by performing the above analyses, we made the new e2SEC framework which has 20% fewer rows, 16.7% less static spatial and 11.1% less dynamic spatial relations. This simplification, while preserving the salient features of a semantic structure in representing actions, has a tremendous impact on the recognition and prediction of complex actions, as well as the interactions between humans and robots. It also creates a comprehensive platform to integrate with the body limbs descriptors and dramatically increases system performance, especially in complex real time applications such as human-robot interaction prediction.

Keywords: enriched semantic event chain, semantic action representation, spatial relations, statistical analysis

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3306 Impact of Ocean Acidification on Gene Expression Dynamics during Development of the Sea Urchin Species Heliocidaris erythrogramma

Authors: Hannah R. Devens, Phillip L. Davidson, Dione Deaker, Kathryn E. Smith, Gregory A. Wray, Maria Byrne

Abstract:

Marine invertebrate species with calcifying larvae are especially vulnerable to ocean acidification (OA) caused by rising atmospheric CO₂ levels. Acidic conditions can delay development, suppress metabolism, and decrease the availability of carbonate ions in the ocean environment for skeletogenesis. These stresses often result in increased larval mortality, which may lead to significant ecological consequences including alterations to the larval settlement, population distribution, and genetic connectivity. Importantly, many of these physiological and developmental effects are caused by genetic and molecular level changes. Although many studies have examined the effect of near-future oceanic pH levels on gene expression in marine invertebrates, little is known about the impact of OA on gene expression in a developmental context. Here, we performed mRNA-sequencing to investigate the impact of environmental acidity on gene expression across three developmental stages in the sea urchin Heliocidaris erythrogramma. We collected RNA from gastrula, early larva, and 1-day post-metamorphic juvenile sea urchins cultured at present-day and predicted future oceanic pH levels (pH 8.1 and 7.7, respectively). We assembled an annotated reference transcriptome encompassing development from egg to ten days post-metamorphosis by combining these data with datasets from two previous developmental transcriptomic studies of H. erythrogramma. Differential gene expression and time course analyses between pH conditions revealed significant alterations to developmental transcription that are potentially associated with pH stress. Consistent with previous investigations, genes involved in biomineralization and ion transport were significantly upregulated under acidic conditions. Differences in gene expression between the two pH conditions became more pronounced post-metamorphosis, suggesting a development-dependent effect of OA on gene expression. Furthermore, many differences in gene expression later in development appeared to be a result of broad downregulation at pH 7.7: of 539 genes differentially expressed at the juvenile stage, 519 of these were lower in the acidic condition. Time course comparisons between pH 8.1 and 7.7 samples also demonstrated over 500 genes were more lowly expressed in pH 7.7 samples throughout development. Of the genes exhibiting stage-dependent expression level changes, over 15% of these diverged from the expected temporal pattern of expression in the acidic condition. Through these analyses, we identify novel candidate genes involved in development, metabolism, and transcriptional regulation that are possibly affected by pH stress. Our results demonstrate that pH stress significantly alters gene expression dynamics throughout development. A large number of genes differentially expressed between pH conditions in juveniles relative to earlier stages may be attributed to the effects of acidity on transcriptional regulation, as a greater proportion of mRNA at this later stage has been nascent transcribed rather than maternally loaded. Also, the overall downregulation of many genes in the acidic condition suggests that OA-induced developmental delay manifests as suppressed mRNA expression, possibly from lower transcription rates or increased mRNA degradation in the acidic environment. Further studies will be necessary to determine in greater detail the extent of OA effects on early developing marine invertebrates.

Keywords: development, gene expression, ocean acidification, RNA-sequencing, sea urchins

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3305 Explorative Approach to the Evolving Administrative Landscape of South Africa

Authors: Z. I Jeeva

Abstract:

The establishment of municipalities in South Africa has been a long and difficult process; 25 years later, it still appears to be evolving. In 1994, the new democratic government undertook to restructure the country’s racially segregated administrative structure by integrating areas to form cohesive municipal entities that would allow for the more efficient administration management of the regions. It planned to achieve this within a short seven-year period from 1993 to 2000, which was to be divided into three phases, namely, the pre-interim phase from 1994 to1995, the interim phase from 1996 to 1999, and the post-interim phase from 2000 onwards. However, the extensive integrated municipal approach was easier to pen on paper than to implement in practice. This paper seeks to explore the South African spatial reform process from 1993 to 2020, by analyzing policy documents and literature in order to determine how exactly the government attempted to achieve this. The study found that the spatial restructuring process was particularly complex since the democratic government inherited an unequal society located on a fragmented spatial landscape of which there was limited knowledge with many unresolved issues. Furthermore, the study found that there is a lack of literature on the topic from an urban planning perspective and calls for further research to ensure the formation of more efficient administrative regions.

Keywords: categorization, demarcation, municipalities, racial integration, spatial reform

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3304 SOCS1 Inhibits MDR1 in Mammary Cell Carcinoma Reverses Multidrug Resistance

Authors: Debasish Pradhan, Shaktiprasad Pradhan, Rakesh Kumar Pradhan, Gitanjali Tripathy

Abstract:

Suppressors of cytokine signalling (SOCS1), a newly indentified antiapoptotic molecule is a downstream effector of the receptor tyrosine kinase-Ras signalling pathway. The current study has uncovered that SOCS1 may have wide and imperative capacities, particularly because of its close correlation with malignant tumors. To investigate the impact of SOCS1 on MDR, we analyzed the expression of P-gp and SOCS1 by immunohistochemistry and found there was a positive correlation between them. At that point, we effectively interfered with RNA translation by the contamination of siRNA of SOCS1 into MCF7/ADM breast cancer cell lines through a lentivirus, and the expression of the target gene was significantly inhibited. After RNAi, the drug resistance was reduced altogether and the expression of MDR1 mRNA and P-gp in MCF7/ADM cell lines demonstrated a significant decrease. Likewise, the expression of P53 protein increased in a statistically significant manner (p ≤ 0.01) after RNAi exposure. Moreover, flow cytometry analysis uncovers that cell cycle and anti-apoptotic enhancing capacity of cells changed after RNAi treatment. These outcomes proposed SOCS1 may take part in breast cancer MDR by managing MDR1 and P53 expression, changing cell cycle and enhancing the anti-apoptotic ability.

Keywords: breast cancer, multidrug resistance, SOCS1 gene, MDR1 gene, RNA interference

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3303 Genomics of Adaptation in the Sea

Authors: Agostinho Antunes

Abstract:

The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.

Keywords: marine genomics, evolutionary bioinformatics, human genome sequencing, genomic analyses

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3302 Optimization of Spatial Light Modulator to Generate Aberration Free Optical Traps

Authors: Deepak K. Gupta, T. R. Ravindran

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Holographic Optical Tweezers (HOTs) in general use iterative algorithms such as weighted Gerchberg-Saxton (WGS) to generate multiple traps, which produce traps with 99% uniformity theoretically. But in experiments, it is the phase response of the spatial light modulator (SLM) which ultimately determines the efficiency, uniformity, and quality of the trap spots. In general, SLMs show a nonlinear phase response behavior, and they may even have asymmetric phase modulation depth before and after π. This affects the resolution with which the gray levels are addressed before and after π, leading to a degraded trap performance. We present a method to optimize the SLM for a linear phase response behavior along with a symmetric phase modulation depth around π. Further, we optimize the SLM for its varying phase response over different spatial regions by optimizing the brightness/contrast and gamma of the hologram in different subsections. We show the effect of the optimization on an array of trap spots resulting in improved efficiency and uniformity. We also calculate the spot sharpness metric and trap performance metric and show a tightly focused spot with reduced aberration. The trap performance is compared by calculating the trap stiffness of a trapped particle in a given trap spot before and after aberration correction. The trap stiffness is found to improve by 200% after the optimization.

Keywords: spatial light modulator, optical trapping, aberration, phase modulation

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3301 Exploring the Spatial Relationship between Built Environment and Ride-hailing Demand: Applying Street-Level Images

Authors: Jingjue Bao, Ye Li, Yujie Qi

Abstract:

The explosive growth of ride-hailing has reshaped residents' travel behavior and plays a crucial role in urban mobility within the built environment. Contributing to the research of the spatial variation of ride-hailing demand and its relationship to the built environment and socioeconomic factors, this study utilizes multi-source data from Haikou, China, to construct a Multi-scale Geographically Weighted Regression model (MGWR), considering spatial scale heterogeneity. The regression results showed that MGWR model was demonstrated superior interpretability and reliability with an improvement of 3.4% on R2 and from 4853 to 4787 on AIC, compared with Geographically Weighted Regression model (GWR). Furthermore, to precisely identify the surrounding environment of sampling point, DeepLabv3+ model is employed to segment street-level images. Features extracted from these images are incorporated as variables in the regression model, further enhancing its rationality and accuracy by 7.78% improvement on R2 compared with the MGWR model only considered region-level variables. By integrating multi-scale geospatial data and utilizing advanced computer vision techniques, this study provides a comprehensive understanding of the spatial dynamics between ride-hailing demand and the urban built environment. The insights gained from this research are expected to contribute significantly to urban transportation planning and policy making, as well as ride-hailing platforms, facilitating the development of more efficient and effective mobility solutions in modern cities.

Keywords: travel behavior, ride-hailing, spatial relationship, built environment, street-level image

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3300 Spatial Element Importance and Its Relation to Characters’ Emotions and Self Awareness in Michela Murgia’s Collection of Short Stories Tre Ciotole. Rituali per Un Anno DI Crisi

Authors: Nikica Mihaljević

Abstract:

Published in 2023, "Tre ciotole. Rituali per un anno di crisi" is a collection of short stories completely disconnected from one another in regard to topics and the representation of characters. However, these short stories complete and somehow continue each other in a particular way. The book happens to be Murgia's last book, as the author died a few months later after the book's publication and it appears as a kind of summary of all her previous literary works. Namely, in her previous publications, Murgia already stressed certain characters' particularities, such as solitude and alienation from others, which are at the center of attention in this literary work, too. What all the stories present in "Tre ciotole" have in common is the dealing with characters' identity and self-awareness through the challenges they confront and the way the characters live their emotions in relation to the surrounding space. Although the challenges seem similar, the spatial element around the characters is different, but it confirms each time that characters' emotions, and, consequently, their self-awareness, can be formed and built only through their connection and relation to the surrounding space. In that way, the reader creates an imaginary network of complex relations among characters in all the short stories, which gives him/her the opportunity to search for a way to break out of the usual patterns that tend to be repeated while characters focus on building self-awareness. The aim of the paper is to determine and analyze the role of spatial elements in the creation of characters' emotions and in the process of self-awareness. As the spatial element changes or gets transformed and/or substituted, in the same way, we notice the arise of the unconscious desire for self-harm in the characters, which damages their self-awareness. Namely, the characters face a crisis that they cannot control by inventing other types of crises that can be controlled. That happens to be their way of acting in order to find the way out of the identity crisis. Consequently, we expect that the results of the analysis point out the similarities in the short stories in characters' depiction as well as to show the extent to which the characters' identities depend on the surrounding space in each short story. In this way, the results will highlight the importance of spatial elements in characters' identity formation in Michela Murgia's short stories and also summarize the importance of the whole Murgia's literary opus.

Keywords: Italian literature, short stories, environment, spatial element, emotions, characters

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3299 Carbohydrate Intake and Physical Activity Levels Modify the Association between FTO Gene Variants and Obesity and Type 2 Diabetes: First Nutrigenetics Study in an Asian Indian Population

Authors: K. S. Vimal, D. Bodhini, K. Ramya, N. Lakshmipriya, R. M. Anjana, V. Sudha, J. A. Lovegrove, V. Mohan, V. Radha

Abstract:

Gene-lifestyle interaction studies have been carried out in various populations. However, to date there are no studies in an Asian Indian population. Hence, we examined whether lifestyle factors such as diet and physical activity modify the association between fat mass and obesity–associated (FTO) gene variants and obesity and type 2 diabetes (T2D) in an Asian Indian population. We studied 734 unrelated T2D and 884 normal glucose-tolerant (NGT) participants randomly selected from the Chennai Urban Rural Epidemiology Study (CURES) in Southern India. Obesity was defined according to the World Health Organization Asia Pacific Guidelines (non-obese, BMI < 25 kg/m2; obese, BMI ≥ 25 kg/m2). Six single nucleotide polymorphisms (SNPs) in the FTO gene (rs9940128, rs7193144, rs8050136, rs918031, rs1588413 and rs11076023) identified from recent genome-wide association studies for T2D were genotyped by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. Dietary assessment was carried out using a validated food frequency questionnaire and physical activity was based upon the self-report. Interaction analyses were performed by including the interaction terms in the model. A joint likelihood ratio test of the main SNP effects and the SNP-diet/physical activity interaction effects was used in the linear regression analyses to maximize statistical power. Statistical analyses were performed using STATA version 13. There was a significant interaction between FTO SNP rs8050136 and carbohydrate energy percentage (Pinteraction=0.04) on obesity, where the ‘A’ allele carriers of the SNP rs8050136 had 2.46 times higher risk of obesity than those with ‘CC’ genotype (P=3.0x10-5) among individuals in the highest tertile of carbohydrate energy percentage. Furthermore, among those who had lower levels of physical activity, the ‘A’ allele carriers of the SNP rs8050136 had 1.89 times higher risk of obesity than those with ‘CC’ genotype (P=4.0x10-5). We also found a borderline interaction between SNP rs11076023 and carbohydrate energy percentage (Pinteraction=0.08) on T2D, where the ‘A’ allele carriers in the highest tertile of carbohydrate energy percentage, had 1.57 times higher risk of T2D than those with ‘TT’ genotype (P=0.002). There was also a significant interaction between SNP rs11076023 and physical activity (Pinteraction=0.03) on T2D. No further significant interactions between SNPs and macronutrient intake or physical activity on obesity and T2D were observed. In conclusion, this is the first study to provide evidence for a gene-diet and gene-physical activity interaction on obesity and T2D in an Asian Indian population. These findings suggest that the association between FTO gene variants and obesity and T2D is influenced by carbohydrate intake and physical activity levels. Greater understanding of how FTO gene influences obesity and T2D through dietary and exercise interventions will advance the development of behavioral intervention and personalised lifestyle strategies predicted to reduce the development of metabolic diseases in ‘A’ allele carriers of both SNPs in this Asian Indian population.

Keywords: dietary intake, FTO, obesity, physical activity, type 2 diabetes, Asian Indian.

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3298 Isolation, Identification and Characterization of 1,2-Dichlorobenzene Degrading Bacteria from Consortium

Authors: Ge Cui, Mei Fang Chien, Chihiro Inoue

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In this research, enrichment culture using an inorganic liquid medium collected soil contaminated with 1,2-dichlorobenzene (1,2-DCB) in Sendai, Japan, was added 1,2-DCB as the sole carbon source to create a stable consortium. The purpose of this research is to analysis dominant microorganisms in the stable consortium and enzyme system which play a role in the degradation of DCBs. The consortium is now at 30 generation and is still being cultured. By the result of PCR-DGGE and clone library, two bacteria are dominant. The bacteria named sk1 was isolated. 40mg/l of 1,2-DCB and 40mg/l of 1,4-DCB were completely degraded after 32 hours and 50 hours, respectively, but no degradation occurred in the case of 1,3-DCB. By PCR, tecA1 (α-subunit of DCB dioxygenase) gene which plays a role degrading DCB to DCB dihydrodiol, and tecB (dehydrogenase) gene which plays a role degrading DCB dihydrodiol to dichlorocatechol were amplified from strain sk1. Bacteria named sk100 was also isolated. 40mg/l of 1,2-DCB was completely degraded after 32 hours, but no degradation occurred in case of 1,3-DCB and 1,4-DCB. By the result of the catalytic core region of dioxygenase amplified by PCR, gene played a role degrading DCB was analyzed. The results of this study concluded that the isolated strains which have not been reported are able to degrade 1,2-DCB stably, and the characterization of degradation and the genomic analysis which is now in progress is helpful to have an overall view of this microbial degradation.

Keywords: DCB, 1, 2-DCB degrading strains, DCB dioxygenase, enrichment culture

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3297 From Social Equity to Spatial Equity in Urban Space: Precedent Study Approach

Authors: Dorsa Pourmojib, Marc J. Boutin

Abstract:

Urban space is used everyday by a diverse range of urban dwellers, each with different expectations. In this space, opportunities and resources are not distributed equitably among urban dwellers, despite the importance of inclusivity. In addition, some marginalized groups may not be considered. These include people with low incomes, immigrants from diverse cultures, various age groups, and those with special needs. To this end, this research aims to enhance social equity in urban space by bridging the gap between social equity and spatial equity in the urban context. This gap in the knowledge base related to urban design may be present for several reasons; lack of studies on relationship between social equity and spatial equity in urban open space, lack of practical design strategies for promoting social equity in urban open space, lack of proper site analysis in terms of context and users of the site both for designing new urban open spaces and developing the existing ones, and lack of researchers that are designers and finally it could be related to priorities of the city’s policies in addressing such issues, since it is time, money and energy consuming. The main objective of this project is addressing the aforementioned gap in the knowledge by exploring the relationship between social equity and spatial equity in urban open space. Answering the main question of this research is a promising step to this end; 'What are the considerations towards providing social equity through the design of urban elements that offer spatial equity?' To answer the main question of this research there are several secondary questions which should be addressed. Such as; how can the characteristics of social equity be translated to spatial equity? What are the diverse user’s needs and which of their needs are not considered in that site? What are the specific elements in the site which should be designed in order to promote social equity? What is the current situation of social and spatial equity in the proposed site? To answer the research questions and achieve the proposed objectives, a three-step methodology has been implemented. Firstly, a comprehensive research framework based on the available literature has been presented. Afterwards, three different urban spaces have been analyzed in terms of specific key research questions as the precedent studies; Naqsh-e Jahan Square (Iran), Superkilen Park (Denmark) and Campo Dei Fiori (Italy). In this regard, a proper gap analysis of the current situation and the proposed situation of these sites has been conducted. Finally, by combining the extracted design considerations from the precedent studies and the literature review, practical design strategies have been introduced as a result of this research. The presented guidelines enable the designers to create socially equitable urban spaces. To conclude, this research proposes a spatial approach to social inclusion and equity in urban space by presenting a practical framework and criteria for translating social equity to spatial equity in urban areas.

Keywords: inclusive urban design, social equity, social inclusion, spatial equity

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3296 Apoptosis Pathway Targeted by Thymoquinone in MCF7 Breast Cancer Cell Line

Authors: M. Marjaneh, M. Y. Narazah, H. Shahrul

Abstract:

Array-based gene expression analysis is a powerful tool to profile expression of genes and to generate information on therapeutic effects of new anti-cancer compounds. Anti-apoptotic effect of thymoquinone was studied in MCF7 breast cancer cell line using gene expression profiling with cDNA micro array. The purity and yield of RNA samples were determined using RNeasyPlus Mini kit. The Agilent RNA 6000 Nano LabChip kit evaluated the quantity of the RNA samples. AffinityScript RT oligo-dT promoter primer was used to generate cDNA strands. T7 RNA polymerase was used to convert cDNA to cRNA. The cRNA samples and human universal reference RNA were labelled with Cy-3-CTP and Cy-5-CTP, respectively. Feature Extraction and GeneSpring software analysed the data. The single experiment analysis revealed involvement of 64 pathways with up-regulated genes and 78 pathways with down-regulated genes. The MAPK and p38-MAPK pathways were inhibited due to the up-regulation of PTPRR gene. The inhibition of p38-MAPK suggested up-regulation of TGF-ß pathway. Inhibition of p38 - MAPK caused up-regulation of TP53 and down-regulation of Bcl2 genes indicating involvement of intrinsic apoptotic pathway. Down-regulation of CARD16 gene as an adaptor molecule regulated CASP1 and suggested necrosis-like programmed cell death and involvement of caspase in apoptosis. Furthermore, down-regulation of GPCR, EGF-EGFR signalling pathways suggested reduction of ER. Involvement of AhR pathway which control cytochrome P450 and glucuronidation pathways showed metabolism of Thymoquinone. The findings showed differential expression of several genes in apoptosis pathways with thymoquinone treatment in estrogen receptor-positive breast cancer cells.

Keywords: cDNA microarray, thymoquinone, CARD16, PTPRR, CASP10

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3295 Spatio-temporal Distribution of the Groundwater Quality in the El Milia Plain, Kebir Rhumel Basin, Algeria

Authors: Lazhar Belkhiri, Ammar Tiri, Lotfi Mouni

Abstract:

In this research, we analyzed the groundwater quality index in the El Milia plain, Kebir Rhumel Basin, Algeria. Thirty-three groundwater samples were collected from wells in the El Milia plain during April 2015. In this study, pH and electrical conductivity (EC) were conducted at each sampling well. Eight hydrochemical parameters such as calcium (Ca), magnesium (Mg), sodium (Na), potassium (K), chlorid (Cl), sulfate (SO4), bicarbonate (HCO3), and Nnitrate (NO3) were analysed. The entropy water quality index (EWQI) method was employed to evaluate the groundwater quality in the study area. Moran’s I and the ordinary kriging (OK) interpolation technique were used to examine the spatial distribution pattern of the hydrochemical parameters in the groundwater. It was found that the hydrochemical parameters Ca, Cl, and HCO3 showed strong spatial autocorrelation in the El Milia plain, indicating a spatial dependence and clustering of these parameters in the groundwater. The groundwater quality was evaluated using the entropy water quality index (EWQI). The results showed that approximately 86% of the total groundwater samples in the study area fall within the moderate groundwater quality category. The spatial map of the EWQI values indicated an increasing trend from the south-west to the northeast, following the direction of groundwater flow. The highest EWQI values were observed near El Milia city in the center of the plain. This spatial pattern suggests variations in groundwater quality across the study area, with potentially higher risks near the city center. Therefore, the results obtained in this research provide very useful information to decision-makers.

Keywords: entropy water quality index (EWQI), moran’s i, ordinary kriging interpolation, el milia plain

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3294 Association of Nuclear – Mitochondrial Epistasis with BMI in Type 1 Diabetes Mellitus Patients

Authors: Agnieszka H. Ludwig-Slomczynska, Michal T. Seweryn, Przemyslaw Kapusta, Ewelina Pitera, Katarzyna Cyganek, Urszula Mantaj, Lucja Dobrucka, Ewa Wender-Ozegowska, Maciej T. Malecki, Pawel Wolkow

Abstract:

Obesity results from an imbalance between energy intake and its expenditure. Genome-Wide Association Study (GWAS) analyses have led to discovery of only about 100 variants influencing body mass index (BMI), which explain only a small portion of genetic variability. Analysis of gene epistasis gives a chance to discover another part. Since it was shown that interaction and communication between nuclear and mitochondrial genome are indispensable for normal cell function, we have looked for epistatic interactions between the two genomes to find their correlation with BMI. Methods: The analysis was performed on 366 T1DM patients using Illumina Infinium OmniExpressExome-8 chip and followed by imputation on Michigan Imputation Server. Only genes which influence mitochondrial functioning (listed in Human MitoCarta 2.0) were included in the analysis – variants of nuclear origin (MAF > 5%) in 1140 genes and 42 mitochondrial variants (MAF > 1%). Gene expression analysis was performed on GTex data. Association analysis between genetic variants and BMI was performed with the use of Linear Mixed Models as implemented in the package 'GENESIS' in R. Analysis of association between mRNA expression and BMI was performed with the use of linear models and standard significance tests in R. Results: Among variants involved in epistasis between mitochondria and nucleus we have identified one in mitochondrial transcription factor, TFB2M (rs6701836). It interacted with mitochondrial variants localized to MT-RNR1 (p=0.0004, MAF=15%), MT-ND2 (p=0.07, MAF=5%) and MT-ND4 (p=0.01, MAF=1.1%). Analysis of the interaction between nuclear variant rs6701836 (nuc) and rs3021088 localized to MT-ND2 mitochondrial gene (mito) has shown that the combination of the two led to BMI decrease (p=0.024). Each of the variants on its own does not correlate with higher BMI [p(nuc)=0.856, p(mito)=0.116)]. Although rs6701836 is intronic, it influences gene expression in the thyroid (p=0.000037). rs3021088 is a missense variant that leads to alanine to threonine substitution in the MT-ND2 gene which belongs to complex I of the electron transport chain. The analysis of the influence of genetic variants on gene expression has confirmed the trend explained above – the interaction of the two genes leads to BMI decrease (p=0.0308). Each of the mRNAs on its own is associated with higher BMI (p(mito)=0.0244 and p(nuc)=0.0269). Conclusıons: Our results show that nuclear-mitochondrial epistasis can influence BMI in T1DM patients. The correlation between transcription factor expression and mitochondrial genetic variants will be subject to further analysis.

Keywords: body mass index, epistasis, mitochondria, type 1 diabetes

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3293 A New Prediction Model for Soil Compression Index

Authors: D. Mohammadzadeh S., J. Bolouri Bazaz

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This paper presents a new prediction model for compression index of fine-grained soils using multi-gene genetic programming (MGGP) technique. The proposed model relates the soil compression index to its liquid limit, plastic limit and void ratio. Several laboratory test results for fine-grained were used to develop the models. Various criteria were considered to check the validity of the model. The parametric and sensitivity analyses were performed and discussed. The MGGP method was found to be very effective for predicting the soil compression index. A comparative study was further performed to prove the superiority of the MGGP model to the existing soft computing and traditional empirical equations.

Keywords: new prediction model, compression index soil, multi-gene genetic programming, MGGP

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3292 Enzyme Producing Psyhrophilic Pseudomonas app. Isolated from Poultry Meats

Authors: Ali Aydin, Mert Sudagidan, Aysen Coban, Alparslan Kadir Devrim

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Pseudomonas spp. (specifically, P. fluorescens and P. fragi) are considered the principal spoilage microorganisms of refrigerated poultry meats. The higher the level psychrophilic spoilage Pseudomonas spp. on carcasses at the end of processing lead to decrease the shelf life of the refrigerated product. The aim of the study was the identification of psychrophilic Pseudomonas spp. having proteolytic and lipolytic activities from poultry meats by 16S rRNA and rpoB gene sequencing, investigation of protease and lipase related genes and determination of proteolytic activity of Pseudomonas spp. In the of isolation procedure, collected chicken meat samples from local markets and slaughterhouses were homogenized and the lysates were incubated on Standard method agar and Skim Milk agar for selection of proteolytic bacteria and tributyrin agar for selection of lipolytic bacteria at +4 °C for 7 days. After detection of proteolytic and lipolytic colonies, the isolates were firstly analyzed by biochemical tests such as Gram staining, catalase and oxidase tests. DNA gene sequencing analysis and comparison with GenBank revealed that 126 strong enzyme Pseudomonas spp. were identified as predominantly P. fluorescens (n=55), P. fragi (n=42), Pseudomonas spp. (n=24), P. cedrina (n=2), P. poae (n=1), P. koreensis (n=1), and P. gessardi (n=1). Additionally, protease related aprX gene was screened in the strains and it was detected in 69/126 strains, whereas, lipase related lipA gene was found in 9 Pseudomonas strains. Protease activity was determined using commercially available protease assay kit and 5 strains showed high protease activity. The results showed that psychrophilic Pseudomonas strains were present in chicken meat samples and they can produce important levels of proteases and lipases for food spoilage to decrease food quality and safety.

Keywords: Pseudomonas, chicken meat, protease, lipase

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3291 Spatiotemporal Analysis of Visual Evoked Responses Using Dense EEG

Authors: Rima Hleiss, Elie Bitar, Mahmoud Hassan, Mohamad Khalil

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A comprehensive study of object recognition in the human brain requires combining both spatial and temporal analysis of brain activity. Here, we are mainly interested in three issues: the time perception of visual objects, the ability of discrimination between two particular categories (objects vs. animals), and the possibility to identify a particular spatial representation of visual objects. Our experiment consisted of acquiring dense electroencephalographic (EEG) signals during a picture-naming task comprising a set of objects and animals’ images. These EEG responses were recorded from nine participants. In order to determine the time perception of the presented visual stimulus, we analyzed the Event Related Potentials (ERPs) derived from the recorded EEG signals. The analysis of these signals showed that the brain perceives animals and objects with different time instants. Concerning the discrimination of the two categories, the support vector machine (SVM) was applied on the instantaneous EEG (excellent temporal resolution: on the order of millisecond) to categorize the visual stimuli into two different classes. The spatial differences between the evoked responses of the two categories were also investigated. The results showed a variation of the neural activity with the properties of the visual input. Results showed also the existence of a spatial pattern of electrodes over particular regions of the scalp in correspondence to their responses to the visual inputs.

Keywords: brain activity, categorization, dense EEG, evoked responses, spatio-temporal analysis, SVM, time perception

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3290 ACTN3 R577X Polymorphism in Romany Children from Eastern Slovakia

Authors: Jarmila Bernasovska, Pavel Ružbarský, Ivan Bernasovsky, Regina Lohajová Behulová

Abstract:

The paper presents the results of the application of molecular genetics methods in sport research, with special emphasis on the most advanced methods and trends in diagnosing of motoric predispositions for the sake of identifying talented children. Genetic tests differ in principle from the traditional motoric tests, because the DNA of an individual does not change during life. Genetics is important in determining the capacity of an individual and for professional sport level. Genetic information can be used for individual genetic predispositions in early childhood. The phenotypes are influenced by a combination of genetic and environmental factors. The aim of the presented study was to examine physical condition, coordination skills, motoric docility and to determine the frequency of ACTN3 (R577X) gene in Romany children from Eastern Slovakia and compared their motoric performance with non-Romany children. This paper is not looking just for a performance, but also its association to genetic predispositions in relation to ACTN3 gene and its R577X polymorphism. Genotype data were obtained from 175 Romany children from 6 to 15 years old and 218 non-Romany children at the same age from Eastern Slovakia. Biological material for genetic analyses comprised samples of buccal swabs. Genotypes were determined using Real Time High resolution melting PCR method (Rotor Gene 6000 Corbett and LightCycler 480 Roche). Romany children of analyzed group legged to non-Romany children at the same age in all the compared tests. The % distribution of R and X alleles in children was different from controls. The frequency of XX genotype was 11,45% which is comparable to a frequency of an Indian population. Data were analysed with the ANOVA statistical programme and parametric and nonparametric tests. This work was supported by grants APVV-0716-10, ITMS 26220120023 and ITMS 26220120041.

Keywords: ACTN3 gene, R577X polymorphism, Romany children, sport performance, Slovakia

Procedia PDF Downloads 432
3289 The Stem Cell Transcription Co-factor Znf521 Sustains Mll-af9 Fusion Protein In Acute Myeloid Leukemias By Altering The Gene Expression Landscape

Authors: Emanuela Chiarella, Annamaria Aloisio, Nisticò Clelia, Maria Mesuraca

Abstract:

ZNF521 is a stem cell-associated transcription co-factor, that plays a crucial role in the homeostatic regulation of the stem cell compartment in the hematopoietic, osteo-adipogenic, and neural system. In normal hematopoiesis, primary human CD34+ hematopoietic stem cells display typically a high expression of ZNF521, while its mRNA levels rapidly decrease when these progenitors progress towards erythroid, granulocytic, or B-lymphoid differentiation. However, most acute myeloid leukemias (AMLs) and leukemia-initiating cells keep high ZNF521 expression. In particular, AMLs are often characterized by chromosomal translocations involving the Mixed Lineage Leukemia (MLL) gene, which MLL gene includes a variety of fusion oncogenes arisen from genes normally required during hematopoietic development; once they are fused, they promote epigenetic and transcription factor dysregulation. The chromosomal translocation t(9;11)(p21-22;q23), fusing the MLL gene with AF9 gene, results in a monocytic immune phenotype with an aggressive course, frequent relapses, and a short survival time. To better understand the dysfunctional transcriptional networks related to genetic aberrations, AML gene expression profile datasets were queried for ZNF521 expression and its correlations with specific gene rearrangements and mutations. The results showed that ZNF521 mRNA levels are associated with specific genetic aberrations: the highest expression levels were observed in AMLs involving t(11q23) MLL rearrangements in two distinct datasets (MILE and den Boer); elevated ZNF521 mRNA expression levels were also revealed in AMLs with t(7;12) or with internal rearrangements of chromosome 16. On the contrary, relatively low ZNF521 expression levels seemed to be associated with the t(8;21) translocation, that in turn is correlated with the AML1-ETO fusion gene or the t(15;17) translocation and in AMLs with FLT3-ITD, NPM1, or CEBPα double mutations. Invitro, we found that the enforced co-expression of ZNF521 in cord blood-derived CD34+ cells induced a significant proliferative advantage, improving MLL-AF9 effects on the induction of proliferation and the expansion of leukemic progenitor cells. Transcriptome profiling of CD34+ cells transduced with either MLL-AF9, ZNF521, or a combination of the two transgenes highlighted specific sets of up- or down-regulated genes that are involved in the leukemic phenotype, including those encoding transcription factors, epigenetic modulators, and cell cycle regulators as well as those engaged in the transport or uptake of nutrients. These data enhance the functional cooperation between ZNF521 and MA9, resulting in the development, maintenance, and clonal expansion of leukemic cells. Finally, silencing of ZNF521 in MLL-AF9-transformed primary CD34+ cells inhibited their proliferation and led to their extinction, as well as ZNF521 silencing in the MLL-AF9+ THP-1 cell line resulted in an impairment of their growth and clonogenicity. Taken together, our data highlight ZNF521 role in the control of self-renewal and in the immature compartment of malignant hematopoiesis, which, by altering the gene expression landscape, contributes to the development and/or maintenance of AML acting in concert with the MLL-AF9 fusion oncogene.

Keywords: AML, human zinc finger protein 521 (hZNF521), mixed lineage leukemia gene (MLL) AF9 (MLLT3 or LTG9), cord blood-derived hematopoietic stem cells (CB-CD34+)

Procedia PDF Downloads 85
3288 Aesthetic Embodiment of the Visual and/or Non-Visual: the Becoming of a Spatial Installation Exhibition Influenced by Shamanic Healing

Authors: Ningfei Xiao, Simon Twose, Hannah Hopewell

Abstract:

In urban settings worldwide, artists and researchers have drawn from shamanic healing, providing insightful responses to the environment. This project is a transdisciplinary creative research project where architecture and art practice draw from shamanic healing and provide the potential to expand knowledge of public space and inspire more aesthetic explorations of public spatial visions. The research started from the encounters with the Ewengki/Evenki shaman tribe in settlement areas of northern China in 2019 and extended through the partnerships with Maori artists in Poneke Aotearoa, New Zealand, in 2023. Based on the learnings and collaborations with female indigenous tradition practitioners and the healing that the researcher received from the land, a spatial installation exhibition was developed in this project. Indigenous practices are intricately woven with contemporary technology, merging visuals, soundscapes, and other non-visual aesthetics influenced by the researcher's personal experiences of embodied shamanic healing with brainwave generative technology. This synthesis seeks to ritualize and reimagine future public spaces, encompassing streetscapes and greenscapes from China to Aotearoa, and fostering connections between urbanized human body, mind, spirit, and land. In doing so, the project presents a feminist posthuman inquiry into how individuals perceive materiality within the context of a future city. Grounded in creative research and embodied methodologies, this paper focuses on the conceptual and autoethnographic aspects of visual-non-visual aesthetics and their creative representation. Through the exploration of aesthetics beyond the visual realm within urban and spatial contexts, this project showcases the spatial installation exhibition as an example of shamanic influence and related response to public space through embodied artistry and transdisciplinary creative inquiry.

Keywords: aesthetic, embodiment, visual and/or non-visual, spatial installation, shamanic healing, public space

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3287 Continuous Measurement of Spatial Exposure Based on Visual Perception in Three-Dimensional Space

Authors: Nanjiang Chen

Abstract:

In the backdrop of expanding urban landscapes, accurately assessing spatial openness is critical. Traditional visibility analysis methods grapple with discretization errors and inefficiencies, creating a gap in truly capturing the human experi-ence of space. Addressing these gaps, this paper introduces a distinct continuous visibility algorithm, a leap in measuring urban spaces from a human-centric per-spective. This study presents a methodological breakthrough by applying this algorithm to urban visibility analysis. Unlike conventional approaches, this tech-nique allows for a continuous range of visibility assessment, closely mirroring hu-man visual perception. By eliminating the need for predefined subdivisions in ray casting, it offers a more accurate and efficient tool for urban planners and architects. The proposed algorithm not only reduces computational errors but also demonstrates faster processing capabilities, validated through a case study in Bei-jing's urban setting. Its key distinction lies in its potential to benefit a broad spec-trum of stakeholders, ranging from urban developers to public policymakers, aid-ing in the creation of urban spaces that prioritize visual openness and quality of life. This advancement in urban analysis methods could lead to more inclusive, comfortable, and well-integrated urban environments, enhancing the spatial experience for communities worldwide.

Keywords: visual openness, spatial continuity, ray-tracing algorithms, urban computation

Procedia PDF Downloads 18
3286 Effect of Jet Diameter on Surface Quenching at Different Spatial Locations

Authors: C. Agrawal, R. Kumar, A. Gupta, B. Chatterjee

Abstract:

An experimental investigation has been carried out to study the cooling of a hot horizontal Stainless Steel surface of 3 mm thickness, which has 800±10 °C initial temperature. A round water jet of 22 ± 1 °C temperature was injected over the hot surface through straight tube type nozzles of 2.5-4.8 mm diameter and 250 mm length. The experiments were performed for the jet exit to target surface spacing of 4 times of jet diameter and jet Reynolds number of 5000-24000. The effect of change in jet Reynolds number on the surface quenching has been investigated form the stagnation point to 16 mm spatial location.

Keywords: hot-surface, jet impingement, quenching, stagnation point

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3285 The Exploration on the Mode of Renovation and Reconstruction of Old Factory Buildings for Cultural and Creative Industrial Parks

Authors: Yu Pan, Jing Wu, Lingwan Shen

Abstract:

Since the reform and opening, China's cities have developed rapidly, and the industrial structure has been constantly adjusted and optimized. A large number of industrial plants have lost their production functions and become idle buildings. The renovation projects for the old factory buildings are important parts of the urban renewal, and most of them are the cultural and creative industrial park projects. In this paper, a statistical analysis of renovation projects of the representative cultural and creative industrial parks in recent years was conducted. According to the user's spatial experience satisfaction survey, the physical and spatial factors affecting the space regeneration of the old factory were concluded. Thus the relationship between space regeneration and material, structure, internal and external space design has been derived. Finally, we summarized the general spatial processing model in which the contradiction between ‘new’ and ‘old’ can be grafted and transformed.

Keywords: renovation of factory buildings, urban renewal, the cultural and creative industrial park, space regeneration, reconstruction mode

Procedia PDF Downloads 129
3284 Association of AGT (M268T) Gene Polymorphism in Diabetes and Nephropathy in Pakistan

Authors: Syed M. Shahid, Rozeena Shaikh, Syeda N. Nawab, Abid Azhar

Abstract:

Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy and foot infections. Pathogenesis of diabetic nephropathy (DN) is implicated by the polymorphisms in genes encoding the specific components of renin angiotensin aldosterone system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and angiotensin converting enzyme (ACE) genes. This study was designed to explore the possible association of AG (M268T) polymorphism in the patients of diabetes and nephropathy in Pakistan. Study subjects included 100 controls, 260 diabetic patients without renal insufficiency and 190 diabetic nephropathy patients with persistent albuminuria. Fasting blood samples were collected from all the subjects after getting institutional ethical approval and informed consent. The biochemical estimations, PCR amplification and direct sequencing for the specific region of AGT gene was carried out. A significantly high frequency of TT genotype and T allele of AGT (M268T) was observed in the patients of diabetes with nephropathy as compared to controls and diabetic patients without any known renal impairment. The TT genotype and T allele of AGT (M268T) polymorphism may be considered as a genetic risk factor for the development and progression of nephropathy in diabetes. Further cross sectional population studies would be of help to establish and confirm the observed possible association of AGT gene variations with development of nephropathy in diabetes.

Keywords: RAAS, AGT (M268T), diabetes, nephropathy

Procedia PDF Downloads 509
3283 A Web-Based Systems Immunology Toolkit Allowing the Visualization and Comparative Analysis of Publically Available Collective Data to Decipher Immune Regulation in Early Life

Authors: Mahbuba Rahman, Sabri Boughorbel, Scott Presnell, Charlie Quinn, Darawan Rinchai, Damien Chaussabel, Nico Marr

Abstract:

Collections of large-scale datasets made available in public repositories can be used to identify and fill gaps in biomedical knowledge. But first, these data need to be made readily accessible to researchers for analysis and interpretation. Here a collection of transcriptome datasets was made available to investigate the functional programming of human hematopoietic cells in early life. Thirty two datasets were retrieved from the NCBI Gene Expression Omnibus (GEO) and loaded in a custom, interactive web application called the Gene Expression browser (GXB), designed for visualization and query of integrated large-scale data. Multiple sample groupings and gene rank lists were created based on the study design and variables in each dataset. Web links to customized graphical views can be generated by users and subsequently be used to graphically present data in manuscripts for publication. The GXB tool also enables browsing of a single gene across datasets, which can provide information on the role of a given molecule across biological systems. The dataset collection is available online. As a proof-of-principle, one of the datasets (GSE25087) was re-analyzed to identify genes that are differentially expressed by regulatory T cells in early life. Re-analysis of this dataset and a cross-study comparison using multiple other datasets in the above mentioned collection revealed that PMCH, a gene encoding a precursor of melanin-concentrating hormone (MCH), a cyclic neuropeptide, is highly expressed in a variety of other hematopoietic cell types, including neonatal erythroid cells as well as plasmacytoid dendritic cells upon viral infection. Our findings suggest an as yet unrecognized role of MCH in immune regulation, thereby highlighting the unique potential of the curated dataset collection and systems biology approach to generate new hypotheses which can be tested in future mechanistic studies.

Keywords: early-life, GEO datasets, PMCH, interactive query, systems biology

Procedia PDF Downloads 272
3282 Classification of Multiple Cancer Types with Deep Convolutional Neural Network

Authors: Nan Deng, Zhenqiu Liu

Abstract:

Thousands of patients with metastatic tumors were diagnosed with cancers of unknown primary sites each year. The inability to identify the primary cancer site may lead to inappropriate treatment and unexpected prognosis. Nowadays, a large amount of genomics and transcriptomics cancer data has been generated by next-generation sequencing (NGS) technologies, and The Cancer Genome Atlas (TCGA) database has accrued thousands of human cancer tumors and healthy controls, which provides an abundance of resource to differentiate cancer types. Meanwhile, deep convolutional neural networks (CNNs) have shown high accuracy on classification among a large number of image object categories. Here, we utilize 25 cancer primary tumors and 3 normal tissues from TCGA and convert their RNA-Seq gene expression profiling to color images; train, validate and test a CNN classifier directly from these images. The performance result shows that our CNN classifier can archive >80% test accuracy on most of the tumors and normal tissues. Since the gene expression pattern of distant metastases is similar to their primary tumors, the CNN classifier may provide a potential computational strategy on identifying the unknown primary origin of metastatic cancer in order to plan appropriate treatment for patients.

Keywords: bioinformatics, cancer, convolutional neural network, deep leaning, gene expression pattern

Procedia PDF Downloads 272
3281 A Coupling Study of Public Service Facilities and Land Price Based on Big Data Perspective in Wuxi City

Authors: Sisi Xia, Dezhuan Tao, Junyan Yang, Weiting Xiong

Abstract:

Under the background of Chinese urbanization changing from incremental development to stock development, the completion of urban public service facilities is essential to urban spatial quality. As public services facilities is a huge and complicated system, clarifying the various types of internal rules associated with the land market price is key to optimizing spatial layout. This paper takes Wuxi City as a representative sample location and establishes the digital analysis platform using urban price and several high-precision big data acquisition methods. On this basis, it analyzes the coupling relationship between different public service categories and land price, summarizing the coupling patterns of urban public facilities distribution and urban land price fluctuations. Finally, the internal mechanism within each of the two elements is explored, providing the reference of the optimum layout of urban planning and public service facilities.

Keywords: public service facilities, land price, urban spatial morphology, big data

Procedia PDF Downloads 182
3280 The Effects of Highly Active Antiretroviral Therapy (HAART) on the Expression of Muc1 and P65 in a Cervical Cancer Cell Line, HCS-2

Authors: K. R. Thabethe, G. A. Adefolaju, M. J. Hosie

Abstract:

Cervical cancer is the third most commonly diagnosed cancer globally and it is one of three AIDS defining malignancies. Highly active antiretroviral therapy (HAART) is a combination of three or more antiretroviral drugs and has been shown to play a significant role in reducing the incidence of some AIDS defining malignancies, although its effect on cervical cancer is still unclear. The aim of this study was to investigate the relationship between cervical cancer and HAART. This was achieved by studying the expression of two signalling molecules expressed in cervical cancer; MUC1 and P65. Following the 24 hour treatment of a cervical cancer cell line, HCS-2, with drugs which are commonly used as part of HAART at their clinical plasma concentrations, real-time qPCR and immunofluorescence were used in order to study gene and protein expression. A one way ANOVA followed by a Tukey Kramer Post Hoc test was conducted using JMP 11 software on both sets of data. The drug classified as a protease inhibitor (PI) (i.e. LPV/r) reduced MUC1 and P65 gene and protein expression more than the other drug tested. PIs are known to play a significant role in cell death, therefore the cells were thought to be more susceptible to cell death following treatment with PIs. In conclusion, the drugs used, especially the PI showed some anticancer effects by facilitating cell death through decreased gene and protein expression of MUC1 and P65 and present promising agents for cancer treatment.

Keywords: cervical cancer, haart, MUC1, P65

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3279 Cloning, Expression and Protein Purification of AV1 Gene of Okra Leaf Curl Virus Egyptian Isolate and Genetic Diversity between Whitefly and Different Plant Hosts

Authors: Dalia. G. Aseel

Abstract:

Begomoviruses are economically important plant viruses that infect dicotyledonous plants and exclusively transmitted by the whitefly Bemisia tabaci. Here, replicative form was isolated from Okra, Cotton, Tomato plants and whitefly infected with Begomoviruses. Using coat protein specific primers (AV1), the viral infection was verified with amplicon at 450 bp. The sequence of OLCuV-AV1 gene was recorded and received an accession number (FJ441605) from Genebank. The phylogenetic tree of OLCuV was closely related to Okra leaf curl virus previously isolated from Cameroon and USA with nucleotide sequence identity of 92%. The protein purification was carried out using His-Tag methodology by using Affinity Chromatography. The purified protein was separated on SDS-PAGE analysis and an enriched expected size of band at 30 kDa was observed. Furthermore, RAPD and SDS-PAGE were used to detect genetic variability between different hosts of okra leaf curl virus (OLCuV), cotton leaf curl virus (CLCuV), tomato yellow leaf curl virus (TYLCuV) and the whitefly vector. Finally, the present study would help to understand the relationship between the whitefly and different economical crops in Egypt.

Keywords: okra leaf curl virus, AV1 gene, sequencing, phylogenetic, cloning, purified protein, genetic diversity and viral proteins

Procedia PDF Downloads 125
3278 Associations of the FTO Gene Polymorphism with Obesity and Metabolic Syndrome in Lithuanian Adult Population

Authors: Alina Smalinskiene Janina Petkeviciene, Jurate Klumbiene, Vilma Kriaucioniene, Vaiva Lesauskaite

Abstract:

The worldwide prevalence of obesity has been increasing dramatically in the last few decades, and Lithuania is no exception. In 2012, every fifth adult (19% of men and 20.5 % of women) was obese and every third was overweight Association studies have highlighted the influence of SNPs in obesity, with particular focus on FTO rs9939609. Thus far, no data on the possible association of this SNP to obesity in the adult Lithuanian population has been reported. Here, for the first time, we demonstrate an association between the FTO rs9939609 homozygous AA genotype and increased BMI when compared to homozygous TT. Furthermore, a positive association was determined between the FTO rs9939609 variant and risk of metabolic syndrome. Background: This study aimed to examine the associations between the fat mass and obesity associated (FTO) gene rs9939609 variant with obesity and metabolic syndrome in Lithuanian adult population. Materials and Methods: A cross-sectional health survey was carried out in randomly selected municipalities of Lithuania. The random sample was obtained from lists of 25–64 year-old inhabitants. The data from 1020 subjects were analysed. The rs9939609 SNP of the FTO gene was assessed using TaqMan assays (Applied Biosystems, Foster City, CA, USA). The Applied Biosystems 7900HT Real-Time Polymerase Chain Reaction System was used for detecting the SNPs. Results: The carriers of the AA genotype had the highest mean values of BMI and waist circumference (WC) and the highest risk of obesity. Interactions ‘genotype x age’ and ‘genotype x physical activity’ in determining BMI and WC were shown. Neither lipid and glucose levels, nor blood pressure were associated with the rs9939609 independently of BMI. In the age group of 25-44 years, association between the FTO genotypes and metabolic syndrome was found. Conclusion: The FTO rs9939609 variant was significantly associated with BMI and WC, and with the risk of obesity in Lithuanian population. The FTO polymorphism might have a greater influence on weight status in younger individuals and in subjects with a low level of physical activity.

Keywords: obesity metabolic syndrome, FTO gene, polymorphism, Lithuania

Procedia PDF Downloads 408