Search results for: genetic analysis
Commenced in January 2007
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Edition: International
Paper Count: 28213

Search results for: genetic analysis

27463 Phenotype Prediction of DNA Sequence Data: A Machine and Statistical Learning Approach

Authors: Darlington Mapiye, Mpho Mokoatle, James Mashiyane, Stephanie Muller, Gciniwe Dlamini

Abstract:

Great advances in high-throughput sequencing technologies have resulted in availability of huge amounts of sequencing data in public and private repositories, enabling a holistic understanding of complex biological phenomena. Sequence data are used for a wide range of applications such as gene annotations, expression studies, personalized treatment and precision medicine. However, this rapid growth in sequence data poses a great challenge which calls for novel data processing and analytic methods, as well as huge computing resources. In this work, a machine and statistical learning approach for DNA sequence classification based on k-mer representation of sequence data is proposed. The approach is tested using whole genome sequences of Mycobacterium tuberculosis (MTB) isolates to (i) reduce the size of genomic sequence data, (ii) identify an optimum size of k-mers and utilize it to build classification models, (iii) predict the phenotype from whole genome sequence data of a given bacterial isolate, and (iv) demonstrate computing challenges associated with the analysis of whole genome sequence data in producing interpretable and explainable insights. The classification models were trained on 104 whole genome sequences of MTB isoloates. Cluster analysis showed that k-mers maybe used to discriminate phenotypes and the discrimination becomes more concise as the size of k-mers increase. The best performing classification model had a k-mer size of 10 (longest k-mer) an accuracy, recall, precision, specificity, and Matthews Correlation coeffient of 72.0 %, 80.5 %, 80.5 %, 63.6 %, and 0.4 respectively. This study provides a comprehensive approach for resampling whole genome sequencing data, objectively selecting a k-mer size, and performing classification for phenotype prediction. The analysis also highlights the importance of increasing the k-mer size to produce more biological explainable results, which brings to the fore the interplay that exists amongst accuracy, computing resources and explainability of classification results. However, the analysis provides a new way to elucidate genetic information from genomic data, and identify phenotype relationships which are important especially in explaining complex biological mechanisms

Keywords: AWD-LSTM, bootstrapping, k-mers, next generation sequencing

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27462 Photosynthesis Metabolism Affects Yield Potentials in Jatropha curcas L.: A Transcriptomic and Physiological Data Analysis

Authors: Nisha Govender, Siju Senan, Zeti-Azura Hussein, Wickneswari Ratnam

Abstract:

Jatropha curcas, a well-described bioenergy crop has been extensively accepted as future fuel need especially in tropical regions. Ideal planting material required for large-scale plantation is still lacking. Breeding programmes for improved J. curcas varieties are rendered difficult due to limitations in genetic diversity. Using a combined transcriptome and physiological data, we investigated the molecular and physiological differences in high and low yielding Jatropha curcas to address plausible heritable variations underpinning these differences, in regard to photosynthesis, a key metabolism affecting yield potentials. A total of 6 individual Jatropha plant from 4 accessions described as high and low yielding planting materials were selected from the Experimental Plot A, Universiti Kebangsaan Malaysia (UKM), Bangi. The inflorescence and shoots were collected for transcriptome study. For the physiological study, each individual plant (n=10) from the high and low yielding populations were screened for agronomic traits, chlorophyll content and stomatal patterning. The J. curcas transcriptomes are available under BioProject PRJNA338924 and BioSample SAMN05827448-65, respectively Each transcriptome was subjected to functional annotation analysis of sequence datasets using the BLAST2Go suite; BLASTing, mapping, annotation, statistical analysis and visualization Large-scale phenotyping of the number of fruits per plant (NFPP) and fruits per inflorescence (FPI) classified the high yielding Jatropha accessions with average NFPP =60 and FPI > 10, whereas the low yielding accessions yielded an average NFPP=10 and FPI < 5. Next generation sequencing revealed genes with differential expressions in the high yielding Jatropha relative to the low yielding plants. Distinct differences were observed in transcript level associated to photosynthesis metabolism. DEGs collection in the low yielding population showed comparable CAM photosynthetic metabolism and photorespiration, evident as followings: phosphoenolpyruvate phosphate translocator chloroplastic like isoform with 2.5 fold change (FC) and malate dehydrogenase (2.03 FC). Green leaves have the most pronounced photosynthetic activity in a plant body due to significant accumulation of chloroplast. In most plants, the leaf is always the dominant photosynthesizing heart of the plant body. Large number of the DEGS in the high-yielding population were found attributable to chloroplast and chloroplast associated events; STAY-GREEN chloroplastic, Chlorophyllase-1-like (5.08 FC), beta-amylase (3.66 FC), chlorophyllase-chloroplastic-like (3.1 FC), thiamine thiazole chloroplastic like (2.8 FC), 1-4, alpha glucan branching enzyme chloroplastic amyliplastic (2.6FC), photosynthetic NDH subunit (2.1 FC) and protochlorophyllide chloroplastic (2 FC). The results were parallel to a significant increase in chlorophyll a content in the high yielding population. In addition to the chloroplast associated transcript abundance, the TOO MANY MOUTHS (TMM) at 2.9 FC, which code for distant stomatal distribution and patterning in the high-yielding population may explain high concentration of CO2. The results were in agreement with the role of TMM. Clustered stomata causes back diffusion in the presence of gaps localized closely to one another. We conclude that high yielding Jatropha population corresponds to a collective function of C3 metabolism with a low degree of CAM photosynthetic fixation. From the physiological descriptions, high chlorophyll a content and even distribution of stomata in the leaf contribute to better photosynthetic efficiency in the high yielding Jatropha compared to the low yielding population.

Keywords: chlorophyll, gene expression, genetic variation, stomata

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27461 Susceptibility Assessment and Genetic Diversity of Iranian and CIMMYT Wheat Genotypes to Common Root Rot Disease Bipolaris sorokiniana

Authors: Mehdi Nasr Esfahani, Abdal-Rasool Gholamalian, Abdelfattah A. Dababat

Abstract:

Wheat, Triticum aestivum L. is one of the most important and strategic crops in the human diet. Several diseases threaten this particular crop. Common root rot disease of wheat by a fungal agent, Bipolaris sorokiniana is one of the important diseases, causing considerable losses worldwide. Resistant sources are the only feasible and effective method of control for managing diseases. In this study, the response of 33 domestic and exotic wheat genotypes, including cultivars and promising lines were screened to B. sorokiniana at greenhouse and field conditions, based on five scoring scale indexes of 0 to 100 severity percentage. The screening was continued on resistant wheat genotypes and repeated several times to confirm the greenhouse and field results. Statistical and cluster analysis of data was performed using SAS and SPSS software, respectively. The results showed that, the response of wheat genotypes to the disease in the greenhouse and field conditions was highly significant. The highest rate of common root rot disease infection, B. sorokiniana in the greenhouse and field, was of CVS. Karkheh and Beck Cross-Roshan with 60.83% and 59.16% disease severity respectively, and the lowest one were in cv. Alvand with 18.33%, followed by cv. Baharan with 19.16% disease severity, with a highly significant difference respectively. The remaining wheat genotypes were located in between these two highest and lowest infected groups to B. sorokiniana significantly. There was a high correlation coefficient between the related statistical groups and cluster analysis.

Keywords: wheat, rot, root, crown, fungus, genotype, resistance

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27460 The Advantages of Using DNA-Barcoding for Determining the Fraud in Seafood

Authors: Elif Tugce Aksun Tumerkan

Abstract:

Although seafood is an important part of human diet and categorized highly traded food industry internationally, it is remain overlooked generally in the global food security aspect. Food product authentication is the main interest in the aim of both avoids commercial fraud and to consider the risks that might be harmful to human health safety. In recent years, with increasing consumer demand for regarding food content and it's transparency, there are some instrumental analyses emerging for determining food fraud depend on some analytical methodologies such as proteomic and metabolomics. While, fish and seafood consumed as fresh previously, within advanced technology, processed or packaged seafood consumption have increased. After processing or packaging seafood, morphological identification is impossible when some of the external features have been removed. The main fish and seafood quality-related issues are the authentications of seafood contents such as mislabelling products which may be contaminated and replacement partly or completely, by lower quality or cheaper ones. For all mentioned reasons, truthful consistent and easily applicable analytical methods are needed for assurance the correct labelling and verifying of seafood products. DNA-barcoding methods become popular robust that used in taxonomic research for endangered or cryptic species in recent years; they are used for determining food traceability also. In this review, when comparing the other proteomic and metabolic analysis, DNA-based methods are allowing a chance to identification all type of food even as raw, spiced and processed products. This privilege caused by DNA is a comparatively stable molecule than protein and other molecules. Furthermore showing variations in sequence based on different species and founding in all organisms, make DNA-based analysis more preferable. This review was performed to clarify the main advantages of using DNA-barcoding for determining seafood fraud among other techniques.

Keywords: DNA-barcoding, genetic analysis, food fraud, mislabelling, packaged seafood

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27459 Orthodontic Management of Patients with Moebius Syndrome: A Case Report

Authors: Hamna Choudhary

Abstract:

Background: This clinical case report follows the orthodontic journey of a teenage girl being treated in the Oxfordshire Community Dental Service. She presents with a rare genetic disorder – Moebius syndrome – characterised by unilateral or bilateral facial (CN VII) and abducens (CN VI) nerve palsy. This report seeks to educate Dental professionals on the impact of Moebius syndrome on Dental treatment, and how to make reasonable adjustments to make orthodontic care accessible to these patients. Methodology: Moebius syndrome is a very rare genetic disorder. Across the Oxfordshire Community Dental Service, only two patients with this condition have been identified who are undergoing orthodontic treatment. One of these patients was selected and observed, while the orthodontist (Heather Nevard) was providing orthodontic treatment with fixed appliances. The patient is undergoing treatment to correct her class II division 2 incisor relationship complicated by buccally excluded, transposed maxillary canines. Conclusions: Specific oral presentations of Moebius syndrome include microstomia, micrognathia, tongue malformation, high or cleft palate, bifid uvula and Dental malocclusion. Orthodontics plays a major role in managing and correcting many of these conditions. This emphasises the importance for Dental professionals to be informed on the condition and highlights the need for Dental input in multidisciplinary teams responsible for the care of these patients. Receiving corrective treatment has a significant impact on an individual’s quality of life. In this case, the patient felt much more confident in herself, and having aligned teeth will allow her to better maintain a healthy dentition throughout life. By understanding and educating oneself on Moebius syndrome, one is able to better cater to patient needs and make orthodontic treatment accessible.

Keywords: dentistry, facial palsy, moebius syndrome, orthodontics

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27458 A Review of Spatial Analysis as a Geographic Information Management Tool

Authors: Chidiebere C. Agoha, Armstong C. Awuzie, Chukwuebuka N. Onwubuariri, Joy O. Njoku

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Spatial analysis is a field of study that utilizes geographic or spatial information to understand and analyze patterns, relationships, and trends in data. It is characterized by the use of geographic or spatial information, which allows for the analysis of data in the context of its location and surroundings. It is different from non-spatial or aspatial techniques, which do not consider the geographic context and may not provide as complete of an understanding of the data. Spatial analysis is applied in a variety of fields, which includes urban planning, environmental science, geosciences, epidemiology, marketing, to gain insights and make decisions about complex spatial problems. This review paper explores definitions of spatial analysis from various sources, including examples of its application and different analysis techniques such as Buffer analysis, interpolation, and Kernel density analysis (multi-distance spatial cluster analysis). It also contrasts spatial analysis with non-spatial analysis.

Keywords: aspatial technique, buffer analysis, epidemiology, interpolation

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27457 Variability for Nodulation and Yield Traits in Biofertilizer Treated and Untreated Pea (Pisum sativum L.) Varieties

Authors: Areej Javaid, Nishat Fatima, Mehwish Naseer

Abstract:

There is a tremendous use of biofertilizers in agriculture to increase crop productivity. Pakistan spends a huge amount on the purchase of synthetic fertilizers every year. The use of natural compounds to harness crop productivity is the major area of interest nowadays due to being safe for human health and the environment as well. Legumes have the intrinsic quality to enrich the nutrient status of soil because of the presence of nitrogen fixation bacteria on nodules. This research determined the effect of biofertilizer on nodulation attributes and yield of the pea plant. Seeds of pea varieties were treated with a slurry of biofertilizer prepared in a 10% sugar solution just before seed sowing. The impact of biofertilizer on different parameters of growth, yield and nodulation was observed. Analysis of variance showed that plant height, days to flowering, number of nodes, days to first pod, root length and plant height exhibited significant genetic variation. All the yield parameters, including the number of pods per plant, number of seeds per pod, seed fresh and dry weight showed significant results under treatment. Among nodulation parameters, nodule number responded positively to biofertilizer treatment. Genotypes 2001-40 showed better performance followed by 2001-20 and LINA-PAK in all the parameters, whereas 2001-40 and 2001-20 performed well in nodulation and yield parameters. Consequently, seed treatment with biofertilizer before sowing is recommended to obtain higher crop yield.

Keywords: biological nitrogen fixation, correlation analysis, quantitative inheritance, varietal responses

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27456 Morphological and Molecular Abnormalities of the Skeletal Muscle Tissue from Pediatric Patient Affected by a Rare Genetic Chaperonopathy Associated with Motor Neuropathy

Authors: Leila Noori, Rosario Barone, Francesca Rappa, Antonella Marino Gammazza, Alessandra Maria Vitale, Giuseppe Donato Mangano, Giusy Sentiero, Filippo Macaluso, Kathryn H. Myburgh, Francesco Cappello, Federica Scalia

Abstract:

The neuromuscular system controls, directs, and allows movement of the body through the action of neural circuits, which include motor neurons, sensory neurons, and skeletal muscle fibers. Protein homeostasis of the involved cytotypes appears crucial to maintain the correct and prolonged functions of the neuromuscular system, and both neuronal cells and skeletal muscle fibers express significant quantities of protein chaperones, the molecular machinery responsible to maintain the protein turnover. Genetic mutations or defective post-translational modifications of molecular chaperones (i.e., genetic or acquired chaperonopathies) may lead to neuromuscular disorders called as neurochaperonopathies. The limited knowledge of the effects of the defective chaperones on skeletal muscle fibers and neurons impedes the progression of therapeutic approaches. A distinct genetic variation of CCT5 gene encoding for the subunit 5 of the chaperonin CCT (Chaperonin Containing TCP1; also known as TRiC, TCP1 Ring Complex) was recently described associated with severe distal motor neuropathy by our team. In this study, we investigated the histopathological abnormalities of the skeletal muscle biopsy of the pediatric patient affected by the mutation Leu224Val in the CCT5 subunit. We provide molecular and structural features of the diseased skeletal muscle tissue that we believe may be useful to identify undiagnosed cases of this rare genetic disorder. We investigated the histological abnormalities of the affected tissue via hematoxylin and eosin staining. Then we used immunofluorescence and qPCR techniques to explore the expression and distribution of CCT5 in diseased and healthy skeletal muscle tissue. Immunofluorescence and immunohistochemistry assays were performed to study the sarcomeric and structural proteins of skeletal muscle, including actin, myosin, tubulin, troponin-T, telethonin, and titin. We performed Western blot to examine the protein expression of CCT5 and some heat shock proteins, Hsp90, Hsp60, Hsp27, and α-B crystallin, along with the main client proteins of the CCT5, actin, and tubulin. Our findings revealed muscular atrophy, abnormal morphology, and different sizes of muscle fibers in affected tissue. The swollen nuclei and wide interfiber spaces were seen. Expression of CCT5 had been decreased and showed a different distribution pattern in the affected tissue. Altered expression, distribution, and bandage pattern were detected by confocal microscopy for the interested muscular proteins in tissue from the patient compared to the healthy control. Protein levels of the studied Hsps normally located at the Z-disk were reduced. Western blot results showed increased levels of the actin and tubulin proteins in the diseased skeletal muscle biopsy compared to healthy tissue. Chaperones must be expressed at high levels in skeletal muscle to counteract various stressors such as mechanical, oxidative, and thermal crises; therefore, it seems relevant that defects of molecular chaperones may result in damaged skeletal muscle fibers. So far, several chaperones or cochaperones involved in neuromuscular disorders have been defined. Our study shows that alteration of the CCT5 subunit is associated with the damaged structure of skeletal muscle fibers and alterations of chaperone system components and paves the way to explore possible alternative substrates of chaperonin CCT. However, further studies are underway to investigate the CCT mechanisms of action to design applicable therapeutic strategies.

Keywords: molecular chaperones, neurochaperonopathy, neuromuscular system, protein homeostasis

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27455 Effect of Phaseolus vulgaris Inoculation on P. vulgaris and Zea mays Growth and Yield Cultivated in Intercropping

Authors: Nour Elhouda Abed, Bedj Mimi, Wahid Slimani, Mourad Atif, Abdelhakim Ouzzane, Hocine Irekti, Abdelkader Bekki

Abstract:

The most frequent system of cereal production in Algeria is fallow-wheat. This is an extensive system that meets only the half needs some cereals and fodder demand. Resorption of fallow has become a strategic necessity to ensure food security in response to the instability of supply and the persistence of higher food prices on the world market. Despite several attempts to replace the fallow by crop cultures, choosing the best crop remains. Today, the agronomic and economic interests of legumes are demonstrated. However, their crop culture remains marginalized because of the weakness and instability of their performance. In the context of improving legumes and cereals crops as well as fallow resorption, we undertook to test, in the field, the effect of rhizobial inoculation of Phaseolus vulgaris in association with Zea Mays. We firstly studied the genetic diversity of rhizobial strains that nodulate P.vulgaris isolated from fifteen (15) different regions. ARDRA had shown 18 different genetic profiles. Symbiotic characterization highlighted a strain that highly significantly improved the fresh and dry weight of the host plant, in comparison to the negative control (un-inoculated) and the positive control (inoculated with the reference strain CIAT 899). In the field, the selected strain increased significantly the growth and yield of P.vulgaris and Zea Mays comparing to the non-inoculated control. However, the mix inoculation (selected strain+ Ciat 899) had not given the best parameters showing, thus, no synergy between the strains. These results indicate the replacing fallow by a crop legume in intercropping with cereals crops.

Keywords: fallow, intercropping, inoculation, legumes-cereals

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27454 Transforming Healthcare with Immersive Visualization: An Analysis of Virtual and Holographic Health Information Platforms

Authors: Hossein Miri, Zhou YongQi, Chan Bormei-Suy

Abstract:

The development of advanced technologies and innovative solutions has opened up exciting new possibilities for revolutionizing healthcare systems. One such emerging concept is the use of virtual and holographic health information platforms that aim to provide interactive and personalized medical information to users. This paper provides a review of notable virtual and holographic health information platforms. It begins by highlighting the need for information visualization and 3D representation in healthcare. It then proceeds to provide background knowledge on information visualization and historical developments in 3D visualization technology. Additional domain knowledge concerning holography, holographic computing, and mixed reality is then introduced, followed by highlighting some of their common applications and use cases. After setting the scene and defining the context, the need and importance of virtual and holographic visualization in medicine are discussed. Subsequently, some of the current research areas and applications of digital holography and holographic technology are explored, alongside the importance and role of virtual and holographic visualization in genetics and genomics. An analysis of the key principles and concepts underlying virtual and holographic health information systems is presented, as well as their potential implications for healthcare are pointed out. The paper concludes by examining the most notable existing mixed-reality applications and systems that help doctors visualize diagnostic and genetic data and assist in patient education and communication. This paper is intended to be a valuable resource for researchers, developers, and healthcare professionals who are interested in the use of virtual and holographic technologies to improve healthcare.

Keywords: virtual, holographic, health information platform, personalized interactive medical information

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27453 Joubert Syndrome in Children as Multicentric Screening in Ten Different Places in World

Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

Abstract:

Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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27452 Investigating Selected Traditional African Medicinal Plants for Anti-fibrotic Potential: Identification and Characterization of Bioactive Compounds Through Fourier-Transform Infrared Spectroscopy and Gas Chromatography-Mass Spectrometry Analysis

Authors: G. V. Manzane, S. J. Modise

Abstract:

Uterine fibroids, also known as leiomyomas or myomas, are non-cancerous growths that develop in the muscular wall of the uterus during the reproductive years. The cause of uterine fibroids includes hormonal, genetic, growth factors, and extracellular matrix factors. Common symptoms of uterine fibroids include heavy and prolonged menstrual bleeding which can lead to a high risk of anemia, lower abdominal pains, pelvic pressure, infertility, and pregnancy loss. The growth of this tumor is a concern because of its negative impact on women’s health and the increase in their economic burden. Traditional medicinal plants have long been used in Africa for their potential therapeutic effects against various ailments. In this study, we aimed to identify and characterize bioactive compounds from selected African medicinal plants with potential anti-fibrotic properties using Fourier-transform infrared spectroscopy (FTIR) and gas chromatography-mass spectrometry (GCMS) analysis. Two medicinal plant species known for their traditional use in fibrosis-related conditions were selected for investigation. Aqueous extracts were prepared from the plant materials, and FTIR analysis was conducted to determine the functional groups present in the extracts. GCMS analysis was performed to identify the chemical constituents of the extracts. The FTIR analysis revealed the presence of various functional groups, such as phenols, flavonoids, terpenoids, and alkaloids, known for their potential therapeutic activities. These functional groups are associated with antioxidant, anti-inflammatory, and anti-fibrotic properties. The GCMS analysis identified several bioactive compounds, including flavonoids, alkaloids, terpenoids, and phenolic compounds, which are known for their pharmacological activities. The discovery of bioactive compounds in African medicinal plants that exhibit anti-fibrotic effects, opens up promising avenues for further research and development of potential treatments for fibrosis. This suggests the potential of these plants as a valuable source of novel therapeutic agents for treating fibrosis-related conditions. In conclusion, our study identified and characterized bioactive compounds from selected African medicinal plants using FTIR and GCMS analysis. The presence of compounds with known antifibrotic properties suggests that these plants hold promise as a potential source of natural products for the development of novel anti-fibrotic therapies.

Keywords: uterine fibroids, african medicinal plants, bioactive compounds, identify and characterized

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27451 Analysis of Saudi Breast Cancer Patients’ Primary Tumors using Array Comparative Genomic Hybridization

Authors: L. M. Al-Harbi, A. M. Shokry, J. S. M. Sabir, A. Chaudhary, J. Manikandan, K. S. Saini

Abstract:

Breast cancer is the second most common cause of cancer death worldwide and is the most common malignancy among Saudi females. During breast carcinogenesis, a wide-array of cytogenetic changes involving deletions, or amplification, or translocations, of part or whole of chromosome regions have been observed. Because of the limitations of various earlier technologies, newer tools are developed to scan for changes at the genomic level. Recently, Array Comparative Genomic Hybridization (aCGH) technique has been applied for detecting segmental genomic alterations at molecular level. In this study, aCGH was performed on twenty breast cancer tumors and their matching non-tumor (normal) counterparts using the Agilent 2x400K. Several regions were identified to be either amplified or deleted in a tumor-specific manner. Most frequent alterations were amplification of chromosome 1q, chromosome 8q, 20q, and deletions at 16q were also detected. The amplification of genetic events at 1q and 8q were further validated using FISH analysis using probes targeting 1q25 and 8q (MYC gene). The copy number changes at these loci can potentially cause a significant change in the tumor behavior, as deletions in the E-Cadherin (CDH1)-tumor suppressor gene as well as amplification of the oncogenes-Aurora Kinase A. (AURKA) and MYC could make these tumors highly metastatic. This study validates the use of aCGH in Saudi breast cancer patients and sets the foundations necessary for performing larger cohort studies searching for ethnicity-specific biomarkers and gene copy number variations.

Keywords: breast cancer, molecular biology, ecology, environment

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27450 DNA Barcoding of Tree Endemic Campanula Species From Artvi̇n, Türki̇ye

Authors: Hayal Akyildirim Beğen, Özgür Emi̇nağaoğlu

Abstract:

DNA barcoding is the method of description of species based on gene diversity. In current studies, registration, genetic identification and protection of especially endemic plants pecies are carried out by DNA barcoding techniques. Molecular studies are based on the amplification and sequencing of the barcode gene region by the PCR method. Endemic Campanula choruhensis Kit Tan & Sorger, Campanula troegera Damboldt and Campanula betulifolia K.Koch is widespread in Artvin, Erzurum and around Çoruh valley passing through it. Intense road and dam constructions are carried out in and around the distribution area of this species. This situation harms the habitat of the species and puts its extinction. In this study, the plastid matK barcode gene regions (650 bp) of three Campanula species were created. To make the identification of this species quickly and accurately, gene sequence compared with sequences of other Campanula L. species. As a result of phylogenetic analysis, C. choruhensis is close relative to C. betulifolia. Morphologically, these species were determined to be more similar to each other with flower and leaf characters. C. troegera formed a separate branch.

Keywords: campanula, DNA barcoding, endemic, türkiye, artvin

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27449 Optimal Design of Multimachine Power System Stabilizers Using Improved Multi-Objective Particle Swarm Optimization Algorithm

Authors: Badr M. Alshammari, T. Guesmi

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In this paper, the concept of a non-dominated sorting multi-objective particle swarm optimization with local search (NSPSO-LS) is presented for the optimal design of multimachine power system stabilizers (PSSs). The controller design is formulated as an optimization problem in order to shift the system electromechanical modes in a pre-specified region in the s-plan. A composite set of objective functions comprising the damping factor and the damping ratio of the undamped and lightly damped electromechanical modes is considered. The performance of the proposed optimization algorithm is verified for the 3-machine 9-bus system. Simulation results based on eigenvalue analysis and nonlinear time-domain simulation show the potential and superiority of the NSPSO-LS algorithm in tuning PSSs over a wide range of loading conditions and large disturbance compared to the classic PSO technique and genetic algorithms.

Keywords: multi-objective optimization, particle swarm optimization, power system stabilizer, low frequency oscillations

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27448 Identification of Superior Cowpea Mutant Genotypes, Their Adaptability, and Stability Under South African Conditions

Authors: M. Ntswane, N. Mbuma, M. Labuschagne, A. Mofokeng, M. Rantso

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Cowpea is an essential legume for the nutrition and health of millions of people in different regions. The production and productivity of the crop are very limited in South Africa due to a lack of adapted and stable genotypes. The improvement of nutritional quality is made possible by manipulating the genes of diverse cowpea genotypes available around the world. Assessing the adaptability and stability of the cowpea mutant genotypes for yield and nutritional quality requires examining them in different environments. The objective of the study was to determine the adaptability and stability of cowpea mutant genotypes under South African conditions and to identify the superior genotypes that combine grain yield components, antioxidants, and nutritional quality. Thirty-one cowpea genotypes were obtained from the Agricultural Research Council grain crops (ARC-GC) and were planted in Glen, Mafikeng, Polokwane, Potchefstroom, Taung, and Vaalharts during the 2021/22 summer cropping season. Significant genotype by location interactions indicated the possibility of genetic improvement of these traits. The genotype plus genotype by environment indicated broad adaptability and stability of mutant genotypes. The principal component analysis identified the association of the genotypes with the traits. Phenotypic correlation analysis showed that Zn and protein content were significant and positively correlated and suggested the possibility of indirect selection of these traits. Results from this study could be used to help plant breeders in making informed decisions and developing nutritionally improved cowpea genotypes with the aim of addressing the challenges of poor nutritional quality.

Keywords: cowpea seeds, adaptability, stability, mineral elements, protein content

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27447 Pharmacogenetics of P2Y12 Receptor Inhibitors

Authors: Ragy Raafat Gaber Attaalla

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For cardiovascular illness, oral P2Y12 inhibitors including clopidogrel, prasugrel, and ticagrelor are frequently recommended. Each of these medications has advantages and disadvantages. In the absence of genotyping, it has been demonstrated that the stronger platelet aggregation inhibitors prasugrel and ticagrelor are superior than clopidogrel at preventing significant adverse cardiovascular events following an acute coronary syndrome and percutaneous coronary intervention (PCI). Both, nevertheless, come with a higher risk of bleeding unrelated to a coronary artery bypass. As a prodrug, clopidogrel needs to be bioactivated, principally by the CYP2C19 enzyme. A CYP2C19 no function allele and diminished or absent CYP2C19 enzyme activity are present in about 30% of people. The reduced exposure to the active metabolite of clopidogrel and reduced inhibition of platelet aggregation among clopidogrel-treated carriers of a CYP2C19 no function allele likely contributed to the reduced efficacy of clopidogrel in clinical trials. Clopidogrel's pharmacogenetic results are strongest when used in conjunction with PCI, but evidence for other indications is growing. One of the most typical examples of clinical pharmacogenetic application is CYP2C19 genotype-guided antiplatelet medication following PCI. Guidance is available from expert consensus groups and regulatory bodies to assist with incorporating genetic information into P2Y12 inhibitor prescribing decisions. Here, we examine the data supporting genotype-guided P2Y12 inhibitor selection's effects on clopidogrel response and outcomes and discuss tips for pharmacogenetic implementation. We also discuss procedures for using genotype data to choose P2Y12 inhibitor therapies as well as any unmet research needs. Finally, choosing a P2Y12 inhibitor medication that optimally balances the atherothrombotic and bleeding risks may be influenced by both clinical and genetic factors.

Keywords: inhibitors, cardiovascular events, coronary intervention, pharmacogenetic implementation

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27446 Drought Alters the Expression of a Candidate Zea Mays P-Coumarate 3-Hydroxylase Gene and Caffeic Acid Biosynthesis

Authors: Zintle Kolo, Ndiko Ludidi

Abstract:

The enzymatic activity of p-coumarate 3-hydroxylase (C3H) synthesize caffeic acid from p-coumaric acid. We recently showed that exogenously applied caffeic acid confers salinity tolerance in soybean (Glycine max) by inducing antioxidant enzymatic activity to promote enhanced scavenging or reactive oxygen species, thus limiting salinity-induced oxidative stress. Recent evidence also establishes that pre-treatment of plants with exogenously supplied caffeic acid improves plant tolerance to osmotic stress by improving plant antioxidant capacity and enhancing biosynthesis of compatible solutes. We aimed to identify a C3H in maize (Zea mays) and evaluate the effect of drought on the spatial and temporal expression of the gene encoding the candidate maize C3H (ZmC3H). Primary sequence analysis shows that ZmC3H shares 71% identity with an Arabidopsis thaliana C3H that is implicated in the control of Arabidopsis cell expansion, growth, and responses to stress. In silico ZmC3H promoter analysis reveals the presence of cis-acting elements that interact with transcription factors implicated in plant responses to drought. Spatial expression analysis by semi-quantitative RT-PCR shows that ZmC3H is expressed in both leaves and roots under normal conditions. However, drought represses the expression of ZmC3H in leaves whereas it up-regulates its expression in roots. These changes in ZmC3H expression correlate with the changes in the content of caffeic acid in maize in response to drought. We illustrate the implications of these changes in the expression of the gene in relation to maize responses to drought and discuss the potential of regulating caffeic acid biosynthesis towards genetic improvement of maize tolerance to drought stress. These findings have implications for food security because of the potential of the implications of the study for drought tolerance in maize.

Keywords: caffeic acid, drought-responsive expression, maize drought tolerance, p-coumarate 3-hydroxylase

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27445 Exploring the Role of Phosphorylation on the β-lactamase Activity of OXA24/40

Authors: Dharshika Rajalingam, Jeffery W. Peng

Abstract:

Acinetobacter baumannii is a challenging threat to global health, recognized as a multidrug-resistant pathogen. -lactamase is one of the principal resistant mechanisms developed by A. baumannii to survive against -lactam antibiotics. OXA24/40 is one of the types of -lactamases, a well-documented carbapenem hydrolyzing class D -lactamases (CHDL). It was revealed that OXA24/40 showed resistivity against doripenem, one of the carbapenems, by two different mechanisms as hydrolysis and -lactonization. Furthermore, it undergoes genetic mutations to broaden the -lactamase activity to survive against antibiotic environments. One of the crucial characterizations of prokaryotes to develop adaptation is post-translational modification (PTM), mainly phosphorylation. However, the PTM of OXA24/40 is an unknown feature, and the impact of PTM on antibiotic resistivity is yet to be explored. We approached these hypotheses using NMR and MS techniques and found that the OXA24/40 could be phosphorylated in vitro. The Ser81 at the active STFK motif of OXA24/40 of catalytic pocket was identified as the site of phosphorylation using 1D 31P NMR experiment, whereas S81 is required to form an acyl-enzyme complex between enzyme and -lactam antibiotics. The activity of completely phosphorylated OXA24/40 wild type against doripenem revealed that the phosphorylation of active Ser inactivates the -lactamases activity of OXA24/40. The 1D 1H CPMG NMR-based activity assay of phosphorylated OXA24/40 against doripenem confirmed that both deactivating mechanisms are inhibited by phosphorylation. Carbamylated Lysine at the active STFK motif is one of the critical features of CHDL required for the acylation and deacylation reactions of the enzyme. The 1D 13C NMR experiment confirmed that the K84 of phosphorylated OXA24/40 is de-carbamylated. Phosphorylation of OXA24/40 affects both active S81 and carbamylated K84 of OXA24 that are required for the resistivity of -lactamase. So, phosphorylation could be one of the reasons for the genetic mutation of OXA24/40 for the development of antibiotic resistivity. Further research can lead to an understanding of the effect of phosphorylation on the clinical mutants of the OXA24-like -lactamase family on the broadening of -lactamase activity.

Keywords: OXA24/40, phosphorylation, clinical mutants, resistivity

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27444 Application of Subversion Analysis in the Search for the Causes of Cracking in a Marine Engine Injector Nozzle

Authors: Leszek Chybowski, Artur Bejger, Katarzyna Gawdzińska

Abstract:

Subversion analysis is a tool used in the TRIZ (Theory of Inventive Problem Solving) methodology. This article introduces the history and describes the process of subversion analysis, as well as function analysis and analysis of the resources, used at the design stage when generating possible undesirable situations. The article charts the course of subversion analysis when applied to a fuel injection nozzle of a marine engine. The work describes the fuel injector nozzle as a technological system and presents principles of analysis for the causes of a cracked tip of the nozzle body. The system is modelled with functional analysis. A search for potential causes of the damage is undertaken and a cause-and-effect analysis for various hypotheses concerning the damage is drawn up. The importance of particular hypotheses is evaluated and the most likely causes of damage identified.

Keywords: complex technical system, fuel injector, function analysis, importance analysis, resource analysis, sabotage analysis, subversion analysis, TRIZ (Theory of Inventive Problem Solving)

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27443 Nutritional Composition of Iranian Desi and Kabuli Chickpea (Cicer arietinum L.) Cultivars in Autumn Sowing

Authors: Khosro Mohammadi

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The grain quality of chickpea in Iran is low and instable, which may be attributed to the evolution of cultivars with a narrow genetic base making them vulnerable to biotic stresses. Four chickpea varieties from diverse geographic origins were chosen and arranged in a randomized complete block design. Mesorhizobium Sp. cicer strain SW7 was added to all the chickpea seeds. Chickpea seeds were planted on October 9, 2013. Each genotype was sown 5 m in length, with 35 cm inter-row spacing, in 3 rows. Weeds were removed manually in all plots. Results showed that analysis of variance on the studied traits showed significant differences among genotypes for N, P, K and Fe contents of chickpea, but there is not a significant difference among Ca, Zn and Mg continents of chickpea. The experimental coefficient of variation (CV) varied from 7.3 to 15.8. In general, the CV value lower than 20% is considered to be good, indicating the accuracy of conducted experiments. The highest grain N was observed in Hashem and Jam cultivars. The highest grain P was observed in Jam cultivar. Phosphorus content (mg/100g) ranged from 142.3 to 302.3 with a mean value of 221.3. The negative correlation (-0.126) was observed between the N and P of chickpea cultivars. The highest K and Fe contents were observed in Jam cultivar.

Keywords: cultivar, genotype, nitrogen, nutrient, yield

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27442 Fuzzy Data, Random Drift, and a Theoretical Model for the Sequential Emergence of Religious Capacity in Genus Homo

Authors: Margaret Boone Rappaport, Christopher J. Corbally

Abstract:

The ancient ape ancestral population from which living great ape and human species evolved had demographic features affecting their evolution. The population was large, had great genetic variability, and natural selection was effective at honing adaptations. The emerging populations of chimpanzees and humans were affected more by founder effects and genetic drift because they were smaller. Natural selection did not disappear, but it was not as strong. Consequences of the 'population crash' and the human effective population size are introduced briefly. The history of the ancient apes is written in the genomes of living humans and great apes. The expansion of the brain began before the human line emerged. Coalescence times for some genes are very old – up to several million years, long before Homo sapiens. The mismatch between gene trees and species trees highlights the anthropoid speciation processes, and gives the human genome history a fuzzy, probabilistic quality. However, it suggests traits that might form a foundation for capacities emerging later. A theoretical model is presented in which the genomes of early ape populations provide the substructure for the emergence of religious capacity later on the human line. The model does not search for religion, but its foundations. It suggests a course by which an evolutionary line that began with prosimians eventually produced a human species with biologically based religious capacity. The model of the sequential emergence of religious capacity relies on cognitive science, neuroscience, paleoneurology, primate field studies, cognitive archaeology, genomics, and population genetics. And, it emphasizes five trait types: (1) Documented, positive selection of sensory capabilities on the human line may have favored survival, but also eventually enriched human religious experience. (2) The bonobo model suggests a possible down-regulation of aggression and increase in tolerance while feeding, as well as paedomorphism – but, in a human species that remains cognitively sharp (unlike the bonobo). The two species emerged from the same ancient ape population, so it is logical to search for shared traits. (3) An up-regulation of emotional sensitivity and compassion seems to have occurred on the human line. This finds support in modern genetic studies. (4) The authors’ published model of morality's emergence in Homo erectus encompasses a cognitively based, decision-making capacity that was hypothetically overtaken, in part, by religious capacity. Together, they produced a strong, variable, biocultural capability to support human sociability. (5) The full flowering of human religious capacity came with the parietal expansion and smaller face (klinorhynchy) found only in Homo sapiens. Details from paleoneurology suggest the stage was set for human theologies. Larger parietal lobes allowed humans to imagine inner spaces, processes, and beings, and, with the frontal lobe, led to the first theologies composed of structured and integrated theories of the relationships between humans and the supernatural. The model leads to the evolution of a small population of African hominins that was ready to emerge with religious capacity when the species Homo sapiens evolved two hundred thousand years ago. By 50-60,000 years ago, when human ancestors left Africa, they were fully enabled.

Keywords: genetic drift, genomics, parietal expansion, religious capacity

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27441 The Influence of the Aquatic Environment on Hematological Parameters in Cyprinus carpio

Authors: Andreea D. Șerban, Răzvan Mălăncuș, Mihaela Ivancia, Șteofil Creangă

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Just as air influences the quality of life in the terrestrial environment, water, as a living environment, is one of great importance when it comes to the quality of life of underwater animals, which acquires an even higher degree of importance when analyzing underwater creatures as future products for human consumption. Thus, going beyond the ideal environment, in which all water quality parameters are permanently in perfect standards for reproduction, growth, and development of fish material and customizing this study to reality, it was demonstrated the importance of reproduction, development, and growth of biological material, necessary in the population fish farms, in the same environment to gain the maximum yield that a fish farm can offer. The biological material used was harvested from 3 fish farms located at great distances from each other to have environments with different parameters. The specimens were clinically healthy at 2 years of age. Thus, the differences in water quality parameters had effects on specimens from other environments, describing large curves in their evolution in new environments. Another change was observed in the new environment, the specimens contributing with the "genetic package" to its modification, tending to a balance of the parameters studied to the values in the environment in which they lived until the time of the experiment. The study clearly showed that adaptability to the environment in which an individual has developed and grown is not valid in environments with different parameters, resulting even in the fatality of one sample during the experiment. In some specimens, the values of the studied hematological parameters were halved after the transfer to the new environment, and in others, the same parameters were doubled. The study concludes that the specimens were adapted to the environment in which they developed and grew, their descendants having a higher value of heritability only in the initial environment. It is known that heritability is influenced 50% by the genetic package of the individual and 50% by the environment, by removing the value of the environment, the duration of improvement of characters of interest will be shorter and the maximum yield of fish farms can be achieved in a smaller period.

Keywords: environment, heritability, quality, water

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27440 Gene Distribution of CB1 Receptor rs2023239 in Thailand Cannabis Patients

Authors: Tanyaporn Chairoch

Abstract:

Introduction: Cannabis is a drug to treat patients with many diseases such as Multiple sclerosis, Alzheimer’s disease, and Epilepsy, where theycontain many active compounds such as delta-9 tetrahydrocannabinol (THC) and cannabidiol (CBD). Especially, THC is the primary psychoactive ingredient in cannabis and binds to cannabinoid 1 (CB1) receptors. Moreover, CB1 is located on the neocortex, hippocampus, basal ganglia, cerebellum, and brainstem. In previous study, we found the association between the variant of CB1recptors gene (rs2023239) and decreased effect of nicotine reinforcement in patients. However, there are no data describing whether the distribution of CB1 receptor gene is a genetic marker for Thai patients who are treated with cannabis. Objective: Thus, the aim of this study we want to investigate the frequency of the CB1 receptor gene in Thai patients. Materials and Methods: All of sixty Thai patients received the medical cannabis for treatment who were recruited in this study. DNA will be extracted from EDTA whole blood by Genomic DNA Mini Kit. The genotyping of CNR1 gene (rs 2023239) was genotyped by the TaqMan real time PCR assay (ABI, Foster City, CA, USA).and using the real-time PCR ViiA7 (ABI, Foster City, CA, USA). Results: We found thirty-eight (63.3%) Thai patients were female, and twenty-two (36.70%) were male in this study with median age of 45.8 (range19 – 87 ) years. Especially, thirty-two (53.30%) medical cannabis tolerant controls were female ( 55%) and median age of52.1 (range 27 – 79 ) years. The most adverse effects for medical cannabis treatment was tachycardia. Furthermore, the number of rs 2023239 (TT) carriers was 26 of 27 (96.29%) in medical cannabis-induced adverse effects and 32 of 33 (96.96%) in tolerant controls. Additionally, rs 2023239 (CT) variant was found just only one of twenty-seven (3.7%) in medical cannabis-induced adverse effects and 1 of 33 (3.03%) in tolerant controls. Conclusions: The distribution of genetic variant in CNR1 gene might serve as a pharmacogenetics markers for screening before initiating the therapy with medical cannabis in Thai patients.

Keywords: cannabis, pharmacogenetics, CNR1 gene, thai patient

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27439 Oil-Oil Correlation Using Polar and Non-Polar Fractions of Crude Oil: A Case Study in Iranian Oil Fields

Authors: Morteza Taherinezhad, Ahmad Reza Rabbani, Morteza Asemani, Rudy Swennen

Abstract:

Oil-oil correlation is one of the most important issues in geochemical studies that enables to classify oils genetically. Oil-oil correlation is generally estimated based on non-polar fractions of crude oil (e.g., saturate and aromatic compounds). Despite several advantages, the drawback of using these compounds is their susceptibility of being affected by secondary processes. The polar fraction of crude oil (e.g., asphaltenes) has similar characteristics to kerogen, and this structural similarity is preserved during migration, thermal maturation, biodegradation, and water washing. Therefore, these structural characteristics can be considered as a useful correlation parameter, and it can be concluded that asphaltenes from different reservoirs with the same genetic signatures have a similar origin. Hence in this contribution, an integrated study by using both non-polar and polar fractions of oil was performed to use the merits of both fractions. Therefore, five oil samples from oil fields in the Persian Gulf were studied. Structural characteristics of extracted asphaltenes were investigated by Fourier transform infrared (FTIR) spectroscopy. Graphs based on aliphatic and aromatic compounds (predominant compounds in asphaltenes structure) and sulphoxide and carbonyl functional groups (which are representatives of sulphur and oxygen abundance in asphaltenes) were used for comparison of asphaltenes structures in different samples. Non-polar fractions were analyzed by GC-MS. The study of asphaltenes showed the studied oil samples comprise two oil families with distinct genetic characteristics. The first oil family consists of Salman and Reshadat oil samples, and the second oil family consists of Resalat, Siri E, and Siri D oil samples. To validate our results, biomarker parameters were employed, and this approach completely confirmed previous results. Based on biomarker analyses, both oil families have a marine source rock, whereby marl and carbonate source rocks are the source rock for the first and the second oil family, respectively.

Keywords: biomarker, non-polar fraction, oil-oil correlation, petroleum geochemistry, polar fraction

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27438 Phylogenetic Analysis and a Review of the History of the Accidental Phytoplankter, Phaeodactylum tricornutum Bohlin (Bacillariophyta)

Authors: Jamal S. M. Sabir, Edward C. Theriot, Schonna R. Manning, Abdulrahman L. Al-Malki, Mohammad, Mumdooh J. Sabir, Dwight K. Romanovicz, Nahid H. Hajrah, Robert K. Jansen, Matt P. Ashworth

Abstract:

The diatom Phaeodactylum tricornutum has been used as a model for cell biologists and ecologists for over a century. We have incorporated several new raphid pennates into a three-gene phylogenetic dataset (SSU, rbcL, psbC), and recover Gomphonemopsis sp. as sister to P. tricornutum with 100% BS support. This is the first time a close relative has been identified for P. tricornutum with robust statistical support. We test and reject a succession of hypotheses for other relatives. Our molecular data are statistically significantly incongruent with placement of either or both species among the Cymbellales, an order of diatoms with which both have been associated. We believe that further resolution of the phylogenetic position of P. tricornutum will rely more on increased taxon sampling than increased genetic sampling. Gomphonemopsis is a benthic diatom, and its phylogenetic relationship with P. tricornutum is congruent with the hypothesis that P. tricornutum is a benthic diatom with specific adaptations that lead to active recruitment into the plankton. We hypothesize that other benthic diatoms are likely to have similar adaptations and are not merely passively recruited into the plankton.

Keywords: benthic, diatoms; ecology, Phaeodactylum tricornutum, phylogeny, tychoplankton

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27437 A Study of Body Weight and Type Traits Recorded on Hairy Goat in Punjab, Pakistan

Authors: A. Qayyum, G. Bilal, H. M. Waheed

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The objectives of the study were to determine phenotypic variations in Hairy goats for quantitative and qualitative traits and to analyze the relationship between different body measurements and body weight in Hairy goats. Data were collected from the Barani Livestock Production Research Institute (BLPRI) at Kherimurat, Attock and potential farmers who were raising hairy goats in the Potohar region. Twelve (12) phenotypic parameters were measured on 99 adult Hairy goat (18 male and 81 female). Four qualitative and 8 quantitative traits were investigated. Qualitative traits were visually observed and expressed as percentages. Descriptive analysis was done on quantitative variables. All hairy goats had predominately black body coat color (72%), whereas white (11%) and brown (11%) body coat color were also observed. Both the pigmented (45.5%) and non-pigmented (54.5%) type of body skin were observed in the goat breed. Horns were present in the majority (91%) of animals. Most of the animals (83%) had straight facial head profiles. Analysis was performed in SAS On-Demand for Academics using PROC mixed model procedure. Overall means ± SD of body weight (BW), body length (BL), height at wither (HAW), ear length (EL), head length (HL), heart girth (HG), tail length (TL) and MC (muzzle circumference) were 41.44 ± 12.21 kg, 66.40 ± 7.87 cm, 75.17 ± 7.83 cm, 22.99 ± 6.75 cm, 15.07 ± 3.44 cm, 76.54 ± 8.80 cm, 18.28 ± 4.18 cm, and 26.24 ± 5.192 cm, respectively. Sex had a significant effect on BL and HG (P < 0.05), whereas BW, HAW, EL, HL, TL, and MC were not significantly affected (P > 0.05). The herd had a significant effect on BW, BL, HAW, HL, HG, and TL (P < 0.05) except EL and MC (P > 0.05). Hairy goats appear to have the potential for selection as mutton breeds in the Potohar region of Punjab. The findings of the present study would help in the characterization and conservation of hairy goats using genetic and genomic tools in the future.

Keywords: body weight, Hairy goat, type traits Punjab, Pakistan

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27436 The Association between IFNAR2 and Dpp9 Genes Single Nucleotide Polymorphisms Frequency with COVID-19 Severity in Iranian Patients

Authors: Sima Parvizi Omran, Rezvan Tavakoli, Mahnaz Safari, Mohammadreza Aghasadeghi, Abolfazl Fateh, Pooneh Rahimi

Abstract:

Background: SARS-CoV-2, a single-stranded RNA betacoronavirus causes the global outbreak of coronavirus disease 2019 (COVID-19). Several clinical and scientific concerns are raised by this pandemic. Genetic factors can contribute to pathogenesis and disease susceptibility. There are single nucleotide polymorphisms (SNPs) in many of the genes in the immune system that affect the expression of specific genes or functions of some proteins related to immune responses against viral infections. In this study, we analyzed the impact of polymorphism in the interferon alpha and beta receptor subunit 2 (IFNAR2) and dipeptidyl peptidase 9 (Dpp9) genes and clinical parameters on the susceptibility and resistance to Coronavirus disease (COVID-19). Methods: A total of 330- SARS-CoV-2 positive patients (188 survivors and 142 nonsurvivors) were included in this study. All single-nucleotide polymorphisms (SNPs) on IFNAR2 (rs2236757) and Dpp9 (rs2109069) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: In survivor patients, the frequency of the favourable genotypes of IFNAR2 SNP (rs2236757 GC) was significantly higher than in nonsurvivor patients, and also Dpp9 (rs2109069 AT) genotypes were associated with the severity of COVID-19 infection. Conclusions: This study demonstrated that the severity of COVID- 19 patients was strongly associated with clinical parameters and unfavourable IFNAR2, Dpp9 SNP genotypes. In order to establish the relationship between host genetic factors and the severity of COVID-19 infection, further studies are needed in multiple parts of the world.

Keywords: SARS-CoV-2, COVID-19, interferon alpha and beta receptor subunit 2, dipeptidyl peptidase 9, single-nucleotide polymorphisms

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27435 Micropropagation and in vitro Conservation via Slow Growth Techniques of Prunus webbii (Spach) Vierh: An Endangered Plant Species in Albania

Authors: Valbona Sota, Efigjeni Kongjika

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Wild almond is a woody species, which is difficult to propagate either generatively by seed or by vegetative methods (grafting or cuttings) and also considered as Endangered (EN) in Albania based on IUCN criteria. As a wild relative of cultivated fruit trees, this species represents a source of genetic variability and can be very important in breeding programs and cultivation. For this reason, it would be of interest to use an effective method of in vitro mid-term conservation, which involves strategies to slow plant growth through physicochemical alterations of in vitro growth conditions. Multiplication of wild almond was carried out using zygotic embryos, as primary explants, with the purpose to develop a successful propagation protocol. Results showed that zygotic embryos can proliferate through direct or indirect organogenesis. During subculture, stage was obtained a great number of new plantlets identical to mother plants derived from the zygotic embryos. All in vitro plantlets obtained from subcultures underwent in vitro conservation by minimal growth in low temperature (4ºC) and darkness. The efficiency of this technique was evaluated for 3, 6, and 10 months of conservation period. Maintenance in these conditions reduced micro cuttings growth. Survival and regeneration rates for each period were evaluated and resulted that the maximal time of conservation without subculture on 4ºC was 10 months, but survival and regeneration rates were significantly reduced, specifically 15.6% and 7.6%. An optimal period of conservation in these conditions can be considered the 5-6 months storage, which can lead to 60-50% of survival and regeneration rates. This protocol may be beneficial for mass propagation, mid-term conservation, and for genetic manipulation of wild almond.

Keywords: micropropagation, minimal growth, storage, wild almond

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27434 Phylogenetic Relationships of Aproaerema Simplexella (Walker) and the Groundnut Leaf Miner Aproaerema Modicella (Deventer) (Lepidoptera: Gelechiidae) Collected from Australia, India, Mozambique, and South Africa

Authors: Makhosi Buthelezi

Abstract:

Mitochondrial DNA cytochrome c oxidase I (COI) gene analyses linked the South African groundnut leaf miner (GLM) to the Australian soya bean moth Aproaerema simplexella (Walker) and Indian Aproaerema modicella (Deventer). Thus, the genetic relatedness of GLM, A. simplexela, and A. modicella was examined by performing mitochondrial and nuclear (COI, cytochrome oxidase subunit II (COII), mitochondrial cytochrome b (CYTB), nuclear ribosomal 28S (28S) and intergenic spacer elongation factor-1 alpha ( EF-1 ALPHA) on 44 specimens collected from South Africa, four from Mozambique, and three each from single locations in India and Australia. Phylogenetic analyses were conducted using the Maximum Parsimony (MP) and Neighbour-Joining (NJ) methods. All of the datasets of the five DNA gene regions that were sequenced were also analyzed using the Basic Local Alignment Search Tool (BLAST) to find the closest matches for inclusion in the phylogenetic trees as outgroups and for purposes of information. In the phylogenetic trees for COI, COII, cytb and EF-1 ALPHA, a similar pattern was observed in the way that the sequences assembled into different groups; i.e., some sequences of A. simplexella from Australia were grouped separately from the others, but some Australian sequences grouped with those of the GLM from South Africa, India, and Mozambique. In the phylogenetic tree for 28S, all sequences from South Africa, Australia, India, and Mozambique grouped together and formed one group. For COI, genetic pairwise distance ranged from 0.97 to 3.60 %, for COII it ranged from 0.19% to 2.32%, for cytb it ranged from 0.25 to 9.77% and for EF-1 ALPHA it ranged 0.48 to 6.99%. Results of this study indicate that these populations are genetically related and presumably constitute a single species. Thus, further molecular and morphological studies need to be undertaken in order to resolve this apparent conundrum on the taxonomy of these populations.

Keywords: aproaerema modicella, aproaerema simplexella, mitochondrial DNA, nuclear DNA

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