Search results for: genetic polymorphism

Authors: M. Chukhryaeva, R. Skhalyakho, J. Kagazegeva, E. Pocheshkhova, L. Yepiskopossyan, O. Balanovsky, E. Balanovska

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The Middle East is crossroad of different populations at different times. The Kurds are of particular interest in this region. Historical sources suggested that the origin of the Kurds is associated with Medes. Therefore, it was especially interesting to compare gene pool of Kurds with other supposed descendants of Medes-Tats. Yezidis are ethno confessional group of Kurds. Yezidism as a confessional teaching was formed in the XI-XIII centuries in Iraq. Yezidism has caused reproductively isolation of Yezidis from neighboring populations for centuries. Also, isolation helps to retain Yezidian caste system. It is unknown how the history of Yezidis affected its genу pool because it has never been the object of researching. We have examined the Y-chromosome variation in Yezidis and Kurdish males to understand their gene pool. We collected DNA samples from 90 Yezidi males and 24 Kurdish males together with their pedigrees. We performed Y-STR analysis of 17 loci in the samples collected (Yfiler system from Applied Biosystems) and analysis of 42 Y-SNPs by real-time PCR. We compared our data with published data from other Kurdish groups and from European, Caucasian, and West Asian populations. We found that gene pool of Yezidis contains haplogroups common in the Middle East (J-M172(xM67,M12)- 24%, E-M35(xM78)- 9%) and in South Western Asia (R-M124- 8%) and variant with wide distribution area - R-M198(xM458- 9%). The gene pool of Kurdish has higher genetic diversity than Yezidis. Their dominants haplogroups are R-M198- 20,3 %, E-M35- 9%, J-M172- 9%. Multidimensional scaling also shows that the Kurds and Yezidis are part of the same frontier Asian cluster, which, in addition, included Armenians, Iranians, Turks, and Greeks. At the same time, the peoples of the Caucasus and Europe form isolated clusters that do not overlap with the Asian clusters. It is noteworthy that Kurds from our study gravitate towards Tats, which indicates that most likely these two populations are descendants of ancient Medes population. Multidimensional scaling also reveals similarity between gene pool of Yezidis, Kurds with Armenians and Iranians. The analysis of Yezidis pedigrees and their STR variability did not reveal a reliable connection between genetic diversity and caste system. This indicates that the Yezidis caste system is a social division and not a biological one. Thus, we showed that, despite many years of isolation, the gene pool of Yezidis retained a common layer with the gene pool of Kurds, these populations have common spectrum of haplogroups, but Yezidis have lower genetic diversity than Kurds. This study received primary support from the RSF grant No. 16-36-00122 to MC and grant No. 16-06-00364 to EP.

Keywords: gene pool, haplogroup, Kurds, SNP and STR markers, Yezidis

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Authors: Kai-Wei Ji, Dung-Ying Lin

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This study investigates the impact of transportation on housing prices in regions surrounding Taiwan's science parks. As these parks evolve into crucial economic and population growth centers, they attract an increasing number of residents and workers, significantly influencing local housing markets. This demographic shift raises important questions about the role of transportation in shaping real estate values. Our research examines four major science parks in Taiwan, providing a comparative analysis of how transportation conditions and population dynamics interact to affect housing price premiums. We employ an origin-destination (OD) matrix derived from pervasive traffic data to model travel patterns and their effects on real estate values. The methodology utilizes a bi-level framework: a genetic algorithm optimizes OD demand estimation at the upper level, while a user equilibrium (UE) model simulates traffic flow at the lower level. This approach enables a nuanced exploration of how population growth impacts transportation conditions and housing price premiums. By analyzing the interplay between travel costs based on OD demand estimation and housing prices, we offer valuable insights for urban planners and policymakers. These findings are crucial for informed decision-making in rapidly developing areas, where understanding the relationship between mobility and real estate values is essential for sustainable urban development.

Keywords: demand estimation, genetic algorithm, housing price, transportation

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Authors: Jayeon Kim, Eunjung Yu, Taeki Yoon

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Most spontaneous miscarriage is believed to be a consequence of embryo aneuploidies. Transferring eukaryotic embryos selected by PGS is expected to decrease the miscarriage rate. Current PGS indications include advanced maternal age, recurrent pregnancy loss, repeated implantation failure. Recently, use of PGS for healthy women without above indications for the purpose of improving in vitro fertilization (IVF) outcomes is on the rise. However, it is still controversy about the beneficial effect of PGS in this population, especially, in women with a history of no more than 2 miscarriages or miscarriage of eukaryotic abortus. This study aimed to investigate if karyotyping result of abortus is a good indicator of preimplantation genetic screening (PGS) in subsequent IVF cycle in women with a history of spontaneous abortion. A single-center retrospective cohort study was performed. Women who had spontaneous abortion(s) (less than 3) and dilatation and evacuation, and subsequent IVF from January 2016 to November 2016 were included. Their medical information was extracted from the charts. Clinical pregnancy was defined as presence of a gestational sac with fetal heart beat detected on ultrasound in week 7. Statistical analysis was performed using SPSS software. Total 234 women were included. 121 out of 234 (51.7%) underwent karyotyping of the abortus, and 113 did not have the abortus karyotyped. Embryo biopsy was performed on 3 or 5 days after oocyte retrieval, followed by embryo transfer (ET) on a fresh or frozen cycle. The biopsied materials were subjected to microarray comparative genomic hybridization. Clinical pregnancy rate per ET was compared between PGS and non-PGS group in each study group. Patients were grouped by two criteria: karyotype of the abortus from previous miscarriage (unknown fetal karyotype (n=89, Group 1), eukaryotic abortus (n=36, Group 2) or aneuploidy abortus (n=67, Group 3)), and pursuing PGS in subsequent IVF cycle (pursuing PGS (PGS group, n=105) or not pursuing PGS (non-PGS group, n=87)). The PGS group was significantly older and had higher number of retrieved oocytes and prior miscarriages compared to non-PGS group. There were no differences in BMI and AMH level between those two groups. In PGS group, the mean number of transferable embryos (eukaryotic embryo) was 1.3 ± 0.7, 1.5 ± 0.5 and 1.4 ± 0.5, respectively (p = 0.049). In 42 cases, ET was cancelled because all embryos biopsied turned out to be abnormal. In all three groups (group 1, 2, and 3), clinical pregnancy rates were not statistically different between PGS and non-PGS group (Group 1: 48.8% vs. 52.2% (p=0.858), Group 2: 70% vs. 73.1% (p=0.730), Group 3: 42.3% vs. 46.7% (p=0.640), in PGS and non-PGS group, respectively). In both groups who had miscarriage with eukaryotic and aneuploidy abortus, the clinical pregnancy rate between IVF cycles with and without PGS was not different. When we compare miscarriage and ongoing pregnancy rate, there were no significant differences between PGS and non-PGS group in all three groups. Our results show that the routine application of PGS in women who had less than 3 miscarriages would not be beneficial, even in cases that previous miscarriage had been caused by fetal aneuploidy.

Keywords: preimplantation genetic diagnosis, miscarriage, kpryotyping, in vitro fertilization

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Authors: Luis C. Parra

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The significant wave height prediction is an issue of great interest in the field of coastal activities because of the non-linear behavior of the wave height and its complexity of prediction. This study aims to present a machine learning model to forecast the significant wave height of the oceanographic wave measuring buoys anchored at Mooloolaba of the Queensland Government Data. Modeling was performed by a multilayer perceptron neural network-genetic algorithm (GA-MLP), considering Relu(x) as the activation function of the MLPNN. The GA is in charge of optimized the MLPNN hyperparameters (learning rate, hidden layers, neurons, and activation functions) and wrapper feature selection for the window width size. Results are assessed using Mean Square Error (MSE), Root Mean Square Error (RMSE), and Mean Absolute Error (MAE). The GAMLPNN algorithm was performed with a population size of thirty individuals for eight generations for the prediction optimization of 5 steps forward, obtaining a performance evaluation of 0.00104 MSE, 0.03222 RMSE, 0.02338 MAE, and 0.71163% of MAPE. The results of the analysis suggest that the MLPNNGA model is effective in predicting significant wave height in a one-step forecast with distant time windows, presenting 0.00014 MSE, 0.01180 RMSE, 0.00912 MAE, and 0.52500% of MAPE with 0.99940 of correlation factor. The GA-MLP algorithm was compared with the ARIMA forecasting model, presenting better performance criteria in all performance criteria, validating the potential of this algorithm.

Keywords: significant wave height, machine learning optimization, multilayer perceptron neural networks, evolutionary algorithms

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Authors: Jacek Kabzinski, Karolina Przybylowska, Lukasz Dziki, Adam Dziki, Ireneusz Majsterek

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The incidence of colorectal cancer (CRC) is increasing from year to year. Despite intensive research CRC etiology remains unknown. Studies suggest that at the basis of the process of carcinogenesis can lie reduced efficiency of DNA repair mechanisms, often caused by polymorphisms in DNA repair genes. The aim of the study was to determine the relationship between gene polymorphisms Pro242Arg of PolB gene and Arg780His of Lig3 gene and modulation of the risk of colorectal cancer in the Polish population. Determination of the molecular basis of carcinogenesis process and predicting increased risk will allow qualifying patients to increased risk group and including them in preventive program. We used blood collected from 110 patients diagnosed with colorectal cancer. The control group consisted of equal number of healthy people. Genotyping was performed by TaqMan method. The obtained results indicate that the genotype 780Arg/His of Lig3 gene is associated with an increased risk of colorectal cancer. On the basis of these results, we conclude that Lig3 gene polymorphism Arg780His may be associated with an increased risk of colorectal cancer.

Keywords: BER, colorectal cancer, PolB, Lig3, polymorphisms

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Authors: Nazish Badar

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In early 2009, Pandemic type A (H1N1) Influenza virus emerged globally. Since then, it has continued circulation causing considerable morbidity and mortality. The purpose of this study was to evaluate the evolutionary changes in Influenza A (H1N1) pdm09 viruses from 2009-15 and their relevance with the current vaccine viruses. Methods: Respiratory specimens were collected with influenza-like illness and Severe Acute Respiratory Illness. Samples were processed according to CDC protocol. Sequencing and phylogenetic analysis of Haemagglutinin (HA) and neuraminidase (NA) genes was carried out comparing representative isolates from Pakistan viruses. Results: Between Jan2009 - Feb 2016, 1870 (13.2%) samples were positive for influenza A out of 14086. During the pandemic period (2009–10), Influenza A/ H1N1pdm 09 was the dominant strain with 366 (45%) of total influenza positives. In the post-pandemic period (2011–2016), a total of 1066 (59.6%) cases were positive Influenza A/ H1N1pdm 09 with co-circulation of different Influenza A subtypes. Overall, the Pakistan A(H1N1) pdm09 viruses grouped in two genetic clades. Influenza A(H1N1)pdm09 viruses only ascribed to Clade 7 during the pandemic period whereas viruses belong to clade 7 (2011) and clade 6B (2015) during the post-pandemic years. Amino acid analysis of the HA gene revealed mutations at positions S220T, I338V and P100S specially associated with outbreaks in all the analyzed strains. Sequence analyses of post-pandemic A(H1N1)pdm09 viruses showed additional substitutions at antigenic sites; S179N,K180Q (SA), D185N, D239G (CA), S202A (SB) and at receptor binding sites; A13T, S200P when compared with pandemic period. Substitution at Genetic markers; A273T (69%), S200P/T (15%) and D239G (7.6%) associated with severity and E391K (69%) associated with virulence was identified in viruses isolated during 2015. Analysis of NA gene revealed outbreak markers; V106I (23%) among pandemic and N248D (100%) during post-pandemic Pakistan viruses. Additional N-Glycosylation site; HA S179N (23%), NA I23T(7.6%) and N44S (77%) in place of N386K(77%) were only found in post-pandemic viruses. All isolates showed histidine (H) at position 275 in NA indicating sensitivity to neuraminidase inhibitors. Conclusion: This study shows that the Influenza A(H1N1)pdm09 viruses from Pakistan clustered into two genetic clades, with co-circulation of some variants. Certain key substitutions in the receptor binding site and few changes indicative of virulence were also detected in post-pandemic strains. Therefore, it is imperative to continue monitoring of the viruses for early identification of potential variants of high virulence or emergence of drug-resistant variants.

Keywords: Influenza A (H1N1) pdm09, evolutionary analysis, post pandemic period, Pakistan

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Authors: Alexander A. Stakheev, Larisa V. Samokhvalova, Sergey K. Zavriev

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Fusarium fungi are among the most devastating plant pathogens distributed all over the world. Significant reduction of grain yield and quality caused by Fusarium leads to multi-billion dollar annual losses to the world agricultural production. These organisms can also cause infections in immunocompromised persons and produce the wide range of mycotoxins, such as trichothecenes, fumonisins, and zearalenone, which are hazardous to human and animal health. Identification of Fusarium fungi based on the morphology of spores and spore-forming structures, colony color and appearance on specific culture media is often very complicated due to the high similarity of these features for closely related species. Modern Fusarium taxonomy increasingly uses data of crossing experiments (biological species concept) and genetic polymorphism analysis (phylogenetic species concept). A number of novel Fusarium sibling species has been established using DNA barcoding techniques. Species recognition is best made with the combined phylogeny of intron-rich protein coding genes and ribosomal DNA sequences. However, the internal transcribed spacer of (ITS), which is considered to be universal DNA barcode for Fungi, is not suitable for genus Fusarium, because of its insufficient variability between closely related species and the presence of non-orthologous copies in the genome. Nowadays, the translation elongation factor 1 alpha (TEF1α) gene is the “gold standard” of Fusarium taxonomy, but the search for novel informative markers is still needed. In this study, we used two novel DNA markers, frataxin (FXN) and heat shock protein 90 (HSP90) to discover phylogenetic relationships between Fusarium species. Multilocus phylogenetic analysis based on partial sequences of TEF1α, FXN, HSP90, as well as intergenic spacer of ribosomal DNA (IGS), beta-tubulin (β-TUB) and phosphate permease (PHO) genes has been conducted for 120 isolates of 19 Fusarium species from different climatic zones of Russia and neighboring countries using maximum likelihood (ML) and maximum parsimony (MP) algorithms. Our analyses revealed that FXN and HSP90 genes could be considered as informative phylogenetic markers, suitable for evolutionary and taxonomic studies of Fusarium genus. It has been shown that PHO gene possesses more variable (22 %) and parsimony informative (19 %) characters than other markers, including TEF1α (12 % and 9 %, correspondingly) when used for elucidating phylogenetic relationships between F. avenaceum and its closest relatives – F. tricinctum, F. acuminatum, F. torulosum. Application of novel DNA barcodes confirmed the fact that F. arthrosporioides do not represent a separate species but only a subspecies of F. avenaceum. Phylogeny based on partial PHO and FXN sequences revealed the presence of separate cluster of four F. avenaceum strains which were closer to F. torulosum than to major F. avenaceum clade. The strain F-846 from Moldova, morphologically identified as F. poae, formed a separate lineage in all the constructed dendrograms, and could potentially be considered as a separate species, but more information is needed to confirm this conclusion. Variable sites in PHO sequences were used for the first-time development of specific qPCR-based diagnostic assays for F. acuminatum and F. torulosum. This work was supported by Russian Foundation for Basic Research (grant № 15-29-02527).

Keywords: DNA barcode, fusarium, identification, phylogenetics, taxonomy

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Authors: Stephanie Khater, Ali Chehade, Lamis Chalak

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The progressive replacement of the Lebanese autochthonous grapevine cultivars during the last decade by the imported foreign varieties almost resulted in the genetic erosion of the local germplasm and the confusion with cultivars' names. Hence there is a need to characterize these local cultivars and to assess the possible existing variability at the cultivar level. This work was conducted in an attempt to evaluate the intra-varietal diversity within Lebanese traditional cultivars 'Aswad', 'Maghdoushe', 'Maryame', 'Merweh', 'Meksese' and 'Obeide'. A total of 50 accessions distributed over five main geographical areas in Lebanon were collected and submitted to both ampelographic description and ISSR DNA analysis. A set of 35 ampelographic descriptors previously established by the International Office of Vine and Wine and related to leaf, bunch, berry, and phenological stages, were examined. Variability was observed between accessions within cultivars for blade shape, density of prostrate and erect hairs, teeth shape, berry shape, size and color, cluster shape and size, and flesh juiciness. At the molecular level, nine ISSR (inter-simple sequence repeat) primers, previously developed for grapevine, were used in this study. These primers generated a total of 35 bands, of which 30 (85.7%) were polymorphic. Totally, 29 genetic profiles were differentiated, of which 9 revealed within 'Obeide', 6 for 'Maghdoushe', 5 for 'Merweh', 4 within 'Maryame', 3 for 'Aswad' and 2 within 'Meksese'. Findings of this study indicate the existence of several genotypes that form the basis of the main indigenous cultivars grown in Lebanon and which should be further considered in the establishment of new vineyards and selection programs.

Keywords: ampelography, autochthonous cultivars, ISSR markers, Lebanon, Vitis vinifera L.

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Authors: Arun K. Yadav, Adam J. Carroll, Gonzalo M. Estavillo, Greg J. Rebetzke, Barry J. Pogson

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Water limits crop productivity, so selecting for minimal yield-gap in drier environments is critical to mitigate against climate change and land-use pressures. To date, no markers measured in glasshouses have been reported to predict field-based drought tolerance. In the field, the best measure of drought tolerance is yield-gap; but this requires multisite trials that are an order of magnitude more resource intensive and can be impacted by weather variation. We investigated the responses of relative water content (RWC), stomatal conductance (gs), chlorophyll content and metabolites in flag leaves of commercial wheat (Triticum aestivum L.) cultivars to three drought treatments in the glasshouse and field environments. We observed strong genetic associations between glasshouse-based RWC, metabolites and Yield gap-based Drought Tolerance (YDT): the ratio of yield in water-limited versus well-watered conditions across 24 field environments spanning sites and seasons. Critically, RWC response to glasshouse drought was strongly associated with both YDT (r2 = 0.85, p < 8E-6) and RWC under field drought (r2 = 0.77, p < 0.05). Multiple regression analyses revealed that 98% of genetic YDT variance was explained by drought responses of four metabolites: serine, asparagine, methionine and lysine (R2 = 0.98; p < 0.01). Fitted coefficients suggested that, for given levels of serine and asparagine, stronger methionine and lysine accumulation was associated with higher YDT. Collectively, our results demonstrate that high-throughput, targeted metabolic phenotyping of glasshouse-grown plants may be an effective tool for the selection of wheat cultivars with high YDT in the field.

Keywords: drought stress, grain yield, metabolomics, stomatal conductance, wheat

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Authors: Bedilu Tafesse

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Conservation of crop genetic resources presents a challenge of identifying specific determinants driving maintenance of diversity at farm and agroecosystems. The objectives of this study were to identify socioeconomic, market and agroecological determinants of farmers’ maintenance of wheat diversity at the household level and derive implications for policies in designing on-farm conservation programs. We assess wheat diversity at farm level using household survey data. A household decision making model is conceptualized using microeconomic theory to assess and identify factors influencing on-farm rice diversity. The model is then tested econometrically by using various factors affecting farmers’ variety choice and diversity decisions. The findings show that household-specific socioeconomic, agroecological and market factors are important in determining on-farm wheat diversity. The significant variables in explaining richness and evenness of wheat diversity include distance to the nearest market, subsistence ratio, modern variety sold, land types and adult labour working in agriculture. The statistical signs of the factors determining wheat diversity are consistent in explaining the richness, dominance and evenness among rice varieties. Finally, the study implies that the cost-effective means of promoting and sustaining on-farm conservation programmes is to target them in market isolated geographic locations of high crop diversity where farm households have more heterogeneity of agroecological conditions and more active family adult labour working on-farm.

Keywords: diversity indices, dominance, evenness, on-farm conservation, wheat diversity, richness

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Authors: Javad Jamali Khouei, Mohammadreza Khoshravan

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Considering that application of functionally graded material is increasing in most industries, it seems necessary to present a methodology for designing optimal profile of structures such as plate under mechanical loading which is highly consumed in industries. Therefore, volume fraction variation profile of functionally graded circular plate which has been considered two-directional is optimized so that stress of structure is minimized. For this purpose, equilibrium equations of two-directional functionally graded circular plate are solved by applying semi analytical-numerical method under mechanical loading and support conditions. By solving equilibrium equations, deflections and stresses are obtained in terms of control variables of volume fraction variation profile. As a result, the problem formula can be defined as an optimization problem by aiming at minimization of critical von-mises stress under constraints of deflections, stress and a physical constraint relating to structure of material. Then, the related problem can be solved with help of one of the metaheuristic algorithms such as genetic algorithm. Results of optimization for the applied model under constraints and loadings and boundary conditions show that functionally graded plate should be graded only in radial direction and there is no need for volume fraction variation of the constituent particles in thickness direction. For validating results, optimal values of the obtained design variables are graphically evaluated.

Keywords: two-directional functionally graded material, single objective optimization, semi analytical-numerical solution, genetic algorithm, graphical solution with contour

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Authors: Shagufta Jabeen, Faez J. Firdaus Abdullah, Zunita Zakaria, Nurulfiza M. Isa, Yung C. Tan, Wai Y. Yee, Abdul R. Omar

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Pasteurella multocida (PM) is an important veterinary opportunistic pathogen particularly associated with septicemic pasteurellosis, pneumonic pasteurellosis and hemorrhagic septicemia in cattle and buffaloes. P. multocida serotype A has been reported to cause fatal pneumonia and septicemia. Pasteurella multocida subspecies multocida of serotype A Malaysian isolate PMTB2.1 was first isolated from buffaloes died of septicemia. In this study, the genome of P. multocida strain PMTB2.1 was sequenced using third-generation sequencing technology, PacBio RS2 system and analyzed bioinformatically via de novo analysis followed by in-depth analysis based on comparative genomics. Bioinformatics analysis based on de novo assembly of PacBio raw reads generated 3 contigs followed by gap filling of aligned contigs with PCR sequencing, generated a single contiguous circular chromosome with a genomic size of 2,315,138 bp and a GC content of approximately 40.32% (Accession number CP007205). The PMTB2.1 genome comprised of 2,176 protein-coding sequences, 6 rRNA operons and 56 tRNA and 4 ncRNAs sequences. The comparative genome sequence analysis of PMTB2.1 with nine complete genomes which include Actinobacillus pleuropneumoniae, Haemophilus parasuis, Escherichia coli and five P. multocida complete genome sequences including, PM70, PM36950, PMHN06, PM3480, PMHB01 and PMTB2.1 was carried out based on OrthoMCL analysis and Venn diagram. The analysis showed that 282 CDs (13%) are unique to PMTB2.1and 1,125 CDs with orthologs in all. This reflects overall close relationship of these bacteria and supports the classification in the Gamma subdivision of the Proteobacteria. In addition, genomic distance analysis among all nine genomes indicated that PMTB2.1 is closely related with other five Pasteurella species with genomic distance less than 0.13. Synteny analysis shows subtle differences in genetic structures among different P.multocida indicating the dynamics of frequent gene transfer events among different P. multocida strains. However, PM3480 and PM70 exhibited exceptionally large structural variation since they were swine and chicken isolates. Furthermore, genomic structure of PMTB2.1 is more resembling that of PM36950 with a genomic size difference of approximately 34,380 kb (smaller than PM36950) and strain-specific Integrative and Conjugative Elements (ICE) which was found only in PM36950 is absent in PMTB2.1. Meanwhile, two intact prophages sequences of approximately 62 kb were found to be present only in PMTB2.1. One of phage is similar to transposable phage SfMu. The phylogenomic tree was constructed and rooted with E. coli, A. pleuropneumoniae and H. parasuis based on OrthoMCL analysis. The genomes of P. multocida strain PMTB2.1 were clustered with bovine isolates of P. multocida strain PM36950 and PMHB01 and were separated from avian isolate PM70 and swine isolates PM3480 and PMHN06 and are distant from Actinobacillus and Haemophilus. Previous studies based on Single Nucleotide Polymorphism (SNPs) and Multilocus Sequence Typing (MLST) unable to show a clear phylogenetic relatedness between Pasteurella multocida and the different host. In conclusion, this study has provided insight on the genomic structure of PMTB2.1 in terms of potential genes that can function as virulence factors for future study in elucidating the mechanisms behind the ability of the bacteria in causing diseases in susceptible animals.

Keywords: comparative genomics, DNA sequencing, phage, phylogenomics

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Authors: Chen Wang, Chun Liang

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Microsatellite instability (MSI) is characterized by high degree of polymorphism in microsatellite (MS) length due to a deficiency in mismatch repair (MMR) system. MSI is associated with several tumor types and its status can be considered as an important indicator for tumor prognostic. Conventional clinical diagnosis of MSI examines PCR products of a panel of MS markers using electrophoresis (MSI-PCR) which is laborious, time consuming, and less reliable. MSIpred, a python 2 package for automatic classification of MSI was released by this study. It computes important somatic mutation features from files in mutation annotation format (MAF) generated from paired tumor-normal exome sequencing data, subsequently using these to predict tumor MSI status with a support vector machine (SVM) classifier trained by MAF files of 1074 tumors belonging to four types. Evaluation of MSIpred on an independent 358-tumor test set achieved overall accuracy of over 98% and area under receiver operating characteristic (ROC) curve of 0.967. These results indicated that MSIpred is a robust pan-cancer MSI classification tool and can serve as a complementary diagnostic to MSI-PCR in MSI diagnosis.

Keywords: microsatellite instability, pan-cancer classification, somatic mutation, support vector machine

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Authors: Aneal Khan, Elleine Allapitan, Desmond Koo, Katherine-Ann Piedalue, Shaneel Pathak, Utkarsh Subnis

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Background: Disease management of metabolic, genetic disorders is long-term and can be cumbersome to patients and caregivers. Patient-Reported Outcome Measures (PROMs) have been a useful tool in capturing patient perspectives to help enhance treatment compliance and engagement with health care providers, reduce utilization of emergency services, and increase satisfaction with their treatment choices. Currently, however, PROMs are collected during infrequent and decontextualized clinic visits, which makes translation of patient experiences challenging over time. The GRIT study aims to evaluate a digital health journal application called Zamplo that provides a personalized health diary to record self-reported health outcomes accurately and efficiently in patients with metabolic, genetic disorders. Methods: This is a randomized controlled trial (RCT) (1:1) that assesses the efficacy of Zamplo to increase patient activation (primary outcome), improve healthcare satisfaction and confidence to manage medications (secondary outcomes), and reduce costs to the healthcare system (exploratory). Using standardized online surveys, assessments will be collected at baseline, 1 month, 3 months, 6 months, and 12 months. Outcomes will be compared between patients who were given access to the application versus those with no access. Results: Seventy-seven patients were recruited as of November 30, 2021. Recruitment for the study commenced in November 2020 with a target of n=150 patients. The accrual rate was 50% from those eligible and invited for the study, with the majority of patients having Fabry disease (n=48) and the remaining having Pompe disease and mitochondrial disease. Real-time clinical responses, such as pain, are being measured and correlated to disease-modifying therapies, supportive treatments like pain medications, and lifestyle interventions. Engagement with the application, along with compliance metrics of surveys and journal entries, are being analyzed. An interim analysis of the engagement data along with preliminary findings from this pilot RCT, and qualitative patient feedback will be presented. Conclusions: The digital self-care journal provides a unique approach to disease management, allowing patients direct access to their progress and actively participating in their care. Findings from the study can help serve the virtual care needs of patients with metabolic, genetic disorders in North America and the world over.

Keywords: eHealth, mobile health, rare disease, patient outcomes, quality of life (QoL), pain, Fabry disease, Pompe disease

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Authors: Thobela Conco, Sheena Kumari, Chika Nnadozie, Mahmoud Nasr, Thor A. Stenström, Mushal Ali, Arshad Ismail, Faizal Bux

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The discharge of antibiotics and its residues into the wastewater treatment plants (WWTP’s) create a conducive environment for the development of antibiotic resistant pathogens. This presents a risk of potential dissemination of antibiotic resistant pathogens and antibiotic resistance genes into the environment. It is, therefore, necessary to study the level of antibiotic resistance genes (ARG’s) among bacterial pathogens that proliferate in biological wastewater treatment systems. In the current study, metagenomic and meta-transcriptomic sequences of samples collected from the influents, secondary effluents and post chlorinated effluents of three wastewater treatment plants treating domestic and hospital effluents in Durban, South Africa, were analyzed for profiling of ARG’s among bacterial pathogens. Results show that a variety of ARG’s, mostly, aminoglycoside, β-lactamases, tetracycline and sulfonamide resistance genes were harbored by diverse bacterial genera found at different stages of treatment. A significant variation in diversity of pathogen and ARGs between the treatment plant was observed; however, treated final effluent samples from all three plants showed a significant reduction in bacterial pathogens and detected ARG’s. Both pre- and post-chlorinated samples showed the presence of mobile genetic elements (MGE’s), indicating the inefficiency of chlorination to remove of ARG’s integrated with MGE’s. In conclusion, the study showed the wastewater treatment plant efficiently caused the reduction and removal of certain ARG’s, even though the initial focus was the removal of biological nutrients.

Keywords: antibiotic resistance, mobile genetic elements, wastewater, wastewater treatment plants

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Authors: Khabat Barkhordari, Ali Mohammad Arabzadeh

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Hepatitis delta virus (HDV) is a RNA virus that needs the function of hepatitis B virus (HBV) for its propagation and assembly. Infection by HDV can occur spontaneously with HBV infection and cause acute hepatitis or develop as secondary infection in HBV suffering patients. Based on genome sequence analysis, HDV has several genotypes which show broad geographic and diverse clinical features. The aim of current study is determine the prevalence of hepatitis delta virus genotype in patients with positive HBsAg in Kerman province of Iran. This cross-sectional study a total of 400 patients with HBV infection attending the clinic center of Besat from 2012 to 2014 were included. We carried out ELISA to detect anti-HDV antibodies. Those testing positive were analyzed further for HDV-RNA and for genotyping using restriction fragment length polymorphism (RFLP) and RT-nested PCR- sequencing. Among 400 patients in this study, 67 cases (16.75 %) were containing anti-HDV antibody which we found HDV RNA in just 7 (1.75%) serum samples. Analysis of these 7 positive HDV showed that all of them have genotype I. According to current study the HDV prevalence in Kerman is higher than the reported prevalence of 6.6% for Iran as a whole and clade 1 (genotype 1) is the predominant clade of HDV in Kerman.

Keywords: genotyping, hepatitis delta virus, molecular epidemiology, Kerman, Iran

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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

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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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Authors: Abera Kotu, Girma Tesema, Mitiku Tadesse

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This study investigated ACE supported instruction and pre-service mathematics teachers’ mental construction in solving equations and inequalities. A mixed approach with concurrent parallel design was employed. It was conducted on two intact groups of regular first-year pre-service mathematics teachers at Fiche College of Teachers’ Education in which one group was assigned as an intervention group and the other group as a comparison group using the lottery method. There were 33 participants in the intervention and 32 participants in the comparison. Six pre-service mathematics teachers were selected for interview using purposive sampling based on pre-test results. An instruction supported with ACE cycle was given to the intervention group for two weeks duration of time. Written tasks, interviews, and observations were used to collect data. Data collected from written tasks were analyzed quantitatively using independent samples t-test and effect size. Data collected from interviews and observations were analyzed narratively. The findings of the study uncovered that ACE-supported instruction has a moderate effect on Pre-service Mathematics Teachers’ levels of conceptualizations of action, process, object, ad schema. Moreover, the ACE supported group out scored and performed better than the usual traditional method supported groups across the levels of conceptualization. The majority of pre-service mathematics teachers’ levels of conceptualizations were at action and process levels and their levels of conceptualization were linked with genetic decomposition more at action and object levels than object and schema. The use of ACE supported instruction is recommended to improve pre-service mathematics teachers’ mental construction.

Keywords: ACE teaching cycle, APOS theory, mental construction, genetic composition

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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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Authors: Rachael Bentley, Callahan Gergen, Brodie Thiede

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Roadways have a significant impact on the environment in so far as they function as barriers to wildlife movement, both through road mortality and through resultant road avoidance. Roads have an im-mense presence worldwide, and it is predicted to increase substantially in the next thirty years. As roadways become even more common, it is important to consider their environmental impact, and to mitigate the negative effects which they have on wildlife and wildlife mobility. In a thorough analysis of several related studies, a common conclusion was that roads cause habitat fragmentation, which can lead split populations to evolve differently, for better or for worse. Though some populations adapted positively to roadways, becoming more resistant to road mortality, and more tolerant to noise and chemical contamination, many others experienced maladaptation, either due to chemical contamination in and around their environment, or because of genetic mutations from inbreeding when their population was fragmented too substantially to support a large enough group for healthy genetic exchange. Large mammals were especially susceptible to maladaptation from inbreed-ing, as they require larger areas to roam and therefore require even more space to sustain a healthy population. Regardless of whether a species evolved positively or negatively as a result of their proximity to a road, animals tended to avoid roads, making the genetic diversity from habitat fragmentation an exceedingly prevalent issue in the larger discussion of road ecology. Additionally, the consideration of solu-tions, such as overpasses and underpasses, is crucial to ensuring the long term survival of many wildlife populations. In studies addressing the effectiveness of overpasses and underpasses, it seemed as though animals adjusted well to these sorts of solutions, but strategic place-ment, as well as proper sizing, proper height, shelter from road noise, and other considerations were important in construction. When an underpass or overpass was well-built and well-shielded from human activity, animals’ usage of the structure increased significantly throughout its first five years, thus reconnecting previously divided populations. Still, these structures are costly and they are often unable to fully address certain issues such as light, noise, and contaminants from vehicles. Therefore, the need for further discussion of new, crea-tive solutions remains paramount. Roads are one of the most consistent and prominent features of today’s landscape, but their environmental impacts are largely overlooked. While roads are useful for connecting people, they divide landscapes and animal habitats. Therefore, further research and investment in possible solutions is necessary to mitigate the negative effects which roads have on wildlife mobility and to pre-vent issues from resultant habitat fragmentation.

Keywords: fences, habitat fragmentation, roadways, wildlife mobility

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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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Authors: Anjan Hazra, Nirjhar Dasgupta, Chandan Sengupta, Sauren Das

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Tea (Camellia sinensis) has received substantial attention from the scientific world time to time, not only for its commercial importance, but also for its demand to the health-conscious people across the world for its extensive use as potential sources of antioxidant supplement. These health-benefit traits primarily rely on some regulatory networks of different metabolic pathways. Development of microsatellite markers from the conserved genomic regions is being worthwhile for studying the genetic diversity of closely related species or self-pollinated species. Although several SSR markers have been reported, in tea the trait-specific Simple Sequence Repeats (SSRs) are yet to be identified, which can be used for marker assisted breeding technique. MicroRNAs are endogenous, noncoding, short RNAs directly involved in regulating gene expressions at the post-transcriptional level. It has been found that diversity in miRNA gene interferes the formation of its characteristic hair pin structure and the subsequent function. In the present study, the precursors of small regulatory RNAs (microRNAs) has been fished out from tea Expressed Sequence Tag (EST) database. Furthermore, the simple sequence repeat motifs within the putative miRNA precursor genes are also identified in order to experimentally validate their existence and function. It is already known that genic-SSR markers are very adept and breeder-friendly source for genetic diversity analysis. So, the potential outcome of this in-silico study would provide some novel clues in understanding the miRNA-triggered polymorphic genic expression controlling specific metabolic pathways, accountable for tea quality.

Keywords: micro RNA, simple sequence repeats, tea quality, trait specific marker

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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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Authors: Dharshika Rajalingam, Jeffery W. Peng

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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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Authors: Simona Perga, Chiara Beltramo, Floriana Fruscione, Isabella Martini, Federica Cavallo, Federica Riccardo, Paolo Buracco, Selina Iussich, Elisabetta Razzuoli, Katia Varello, Lorella Maniscalco, Elena Bozzetta, Angelo Ferrari, Paola Modesto

Abstract:

Introduction: Human and canine melanoma have common clinical, histologic characteristics making dogs a good model for comparative oncology. The identification of specific genes and a better understanding of the genetic landscape, signaling pathways, and tumor–microenvironmental interactions involved in the cancer onset and progression is essential for the development of therapeutic strategies against this tumor in both species. In the present study, the differential expression of genes in spontaneously occurring canine melanoma and in paired normal tissue was investigated by targeted RNAseq. Material and Methods: Total RNA was extracted from 17 canine malignant melanoma (CMM) samples and from five paired normal tissues stored in RNA-later. In order to capture the greater genetic variability, gene expression analysis was carried out using two panels (Qiagen): Human Immuno-Oncology (HIO) and Mouse-Immuno-Oncology (MIO) and the miSeq platform (Illumina). These kits allow the detection of the expression profile of 990 genes involved in the immune response against tumors in humans and mice. The data were analyzed through the CLCbio Genomics Workbench (Qiagen) software using the Canis lupus familiaris genome as a reference. Data analysis were carried out both comparing the biologic group (tumoral vs. healthy tissues) and comparing neoplastic tissue vs. paired healthy tissue; a Fold Change greater than two and a p-value less than 0.05 were set as the threshold to select interesting genes. Results and Discussion: Using HIO 63, down-regulated genes were detected; 13 of those were also down-regulated comparing neoplastic sample vs. paired healthy tissue. Eighteen genes were up-regulated, 14 of those were also down-regulated comparing neoplastic sample vs. paired healthy tissue. Using the MIO, 35 down regulated-genes were detected; only four of these were down-regulated, also comparing neoplastic sample vs. paired healthy tissue. Twelve genes were up-regulated in both types of analysis. Considering the two kits, the greatest variation in Fold Change was in up-regulated genes. Dogs displayed a greater genetic homology with humans than mice; moreover, the results have shown that the two kits are able to detect different genes. Most of these genes have specific cellular functions or belong to some enzymatic categories; some have already been described to be correlated to human melanoma and confirm the validity of the dog as a model for the study of molecular aspects of human melanoma.

Keywords: animal model, canine melanoma, gene expression, spontaneous tumors, targeted RNAseq

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Authors: Pouya Karimi, Ramin Gasemi Shayan, Parsa Sheykhzade

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Ease shotgun DNA sequencing is changing the microbial sciences. Sequencing instruments are compelling to the point that example planning is currently the key constraining element. Here, we present a microfluidic test readiness stage that incorporates the key strides in cells to grouping library test groundwork for up to 96 examples and decreases DNA input prerequisites 100-overlay while keeping up or improving information quality. The universally useful microarchitecture we show bolsters work processes with subjective quantities of response and tidy up or catch steps. By decreasing the example amount necessities, we empowered low-input (∼10,000 cells) entire genome shotgun (WGS) sequencing of Mycobacterium tuberculosis and soil miniaturized scale settlements with prevalent outcomes. We additionally utilized the upgraded throughput to succession ∼400 clinical Pseudomonas aeruginosa libraries and exhibit magnificent single-nucleotide polymorphism discovery execution that clarified phenotypically watched anti-toxin opposition. Completely coordinated lab-on-chip test arrangement beats specialized boundaries to empower more extensive organization of genomics across numerous fundamental research and translational applications.

Keywords: clinical microbiology, DNA, microbiology, microbial genomics

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Authors: C. V. Nnamani, O. L. Adedeji

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The contemporary global economic meltdown has devastating effect on the Nigerian’s economy and its frantic search for alternative source of national revenue aside from oil and gas has become imperative for economic emancipation for Nigerians. Apicultural entrepreneurship could provide a source of livelihood if the basic knowledge of those plant genetic resources needed by bees is made available. A palynological evaluation of those palynotaxa which honey bees forage for pollen and nectar was carried out after standard acetolysis method. Results showed that the honey samples were highly diversified and rich in honey plants. A total of 9544.3 honey pollen, consisting of 39 honey plants belonging to 21 plant families and distributed within 38 genera were identified excluding 238 unidentified pollen grains. Data from the analysis equally revealed that Elaeis guineensis Jacq, Anacardium occidentale L, Diospyros mespiliformis Hochist xe ADC, Alchornea cordifolia Muell, Arg, Daniella oliveri (Rolfe) Hutch & Dalz, Irvingia wombolu Okafor ex Baill, Treculia africana Decne, Nauclea latifolia Smith and Crossopteryx febrifuga Afzil ex Benth were the predominant honey plants. It provided a guide to the optimal utilization of floral resources by honeybees in these regions, showing the opportunity and amazing potentials for apiculture entrepreneurship of these palytaxa. Most of these plants are rare, threatened and endangered. It calls for urgent conservation techniques and step by all players. Critical awareness creation to ensure farmers knowledge of these palynotaxa to ensure proper understanding and attendance boost from them as economic empowerment is needed.

Keywords: palynotaxa, acetolysis, enterprise, livelihood, Nigeria

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Authors: Margaret Boone Rappaport, Christopher J. Corbally

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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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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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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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