Polyploidy is a powerful mechanism driving genetic, physiological, and phenotypic changes among cytotypes of the same species across both large and small geographic scales. These changes can significantly shape population structure and increase the evolutionary and adaptation potential of cytotypes. Alyssum moellendorfianum, an edaphic steno-endemic species with a narrow distribution in the Balkan Peninsula, serves as an intriguing case study. We conducted a comprehensive analysis of genetic diversity and population structure across the species’ range, employing an array of genetic techniques (nuclear microsatellites, amplified fragment length polymorphisms, and plastid DNA sequences), flow cytometry (FCM), morphometry, and pollen analysis. The study reveals two genetic lineages: spatially distributed diploid and tetraploid cytotypes. Clear divergence between diploids and tetraploids was shown by AFLP, while plastid DNA sequences confirmed private haplotypes in each of the studied populations. Higher genetic diversity and allelic richness following the north-south pattern were documented in tetraploids compared to diploids, as indicated by nuclear microsatellites. Morphometric analysis via principal component analysis (PCA) and canonical discriminant analysis (CDA) did not reveal any divergence between diploid and tetraploid cytotypes. Nonetheless, a distinction in pollen size was clearly observed. The results suggest an autopolyploid origin of tetraploids from diploid ancestors. Despite the population fragmentation in a very small geographic range, these populations harbour high genetic diversity, which would allow them to remain stable if natural processes remain undisturbed.
Biomarkers associated with the progression from gastric intestinal metaplasia (GIM) to gastric adenocarcinoma (GA), i.e., GA-related GIM, could provide valuable insights into identifying patients with increased risk for GA. The aim of this study was to utilize multi-bioinformatics to reveal potential biomarkers for the GA-related GIM and predict potential drug repurposing for GA prevention in patients. The multi-bioinformatics included gene expression matrix (GEM) by microarray gene expression (MGE), ScType (a fully automated and ultra-fast cell-type identification based solely on a given scRNA-seq data), Ingenuity Pathway Analysis, PageRank centrality, GO and MSigDB enrichments, Cytoscape, Human Protein Atlas and molecular docking analysis in combination with immunohistochemistry. To identify GA-related GIM, paired surgical biopsies were collected from 16 GIM-GA patients who underwent gastrectomy, yielding 64 samples (4 biopsies per stomach x 16 patients) for MGE. Co-analysis was performed by including scRNAseq and immunohistochemistry datasets of endoscopic biopsies of 37 patients. The results of the present study showed potential biomarkers for GA-related GIM, including GEM of individual patients, individual genes (such as RBP2 and CD44), signaling pathways, network of molecules, and network of signaling pathways with key topological nodes. Accordingly, potential treatment targets with repurposed drugs were identified including epidermal growth factor receptor, proto-oncogene tyrosine-protein kinase Src, paxillin, transcription factor Jun, breast cancer type 1 susceptibility protein, cellular tumor antigen p53, mouse double minute 2, and CD44.
This research work presents a comprehensive overview of four traits related to the head, with the aim of assessing the statistical phenotypic association among them. The traits examined in this study encompass earlobe type, tongue rugosity, cleft chin and tongue rolling. The primary objective was to investigate the potential associations between these traits and understand their interrelationships. The study focused on examining specific traits in a diverse group of 7431 unrelated individuals, where the genders were almost evenly distributed. To facilitate a comprehensive analysis, three distinct groups were created for each characteristic, comprising the total population, as well as male and female subsets. The selection of subjects was carefully done to ensure a fair representation across different geographical regions within Bosnia and Herzegovina, thereby accurately reflecting the nation's national and ethnic diversity. The association among these traits was assessed for statistical significance using the Chi-squared test, with Fisher's exact test used as a supplementary method to examine the connection between each pair of observed traits. Additionally, the Chi-squared test was applied to examine gender-based differences in the frequencies of the phenotypic characteristics of the head. Following traits were shown to have a statistically significant association: tongue rugosity - tongue rolling, tongue rugosity – earlobe type, cleft chin – earlobe type, cleft chin – tongue rolling and earlobe type – tongue rolling. Investigation into the variations in the frequencies of observed phenotypic traits of the head, with respect to gender, revealed statistically significant results for every trait examined.
ABSTRACT Borrelia burgdorferi sensu lato complex comprises 20 species, from which B. afzelii, B. garinii, B. burgdorferi sensu stricto, B. bavariensis, and B. spielmanii are directly associated with Lyme borreliosis, while B. bissettiae, B. lusitaniae, and B. valaisiana were detected in individual cases. Their main vector in Europe is the hard tick species Ixodes ricinus. To date, two species, B. spielmanii and B. lusitaniae, have been molecularly detected in Bosnia and Herzegovina. To test for the presence of other Borrelia species, we performed nested PCR targeting intergenic region rrf (5S) – rrl (23S) on DNA isolates from 49 ticks collected from vegetation by flagging method and 43 removed from humans in The Center for Emergency Medical Assistance of the Sarajevo Canton and The Healthcare Centers of the Sarajevo Canton. Borrelia species were detected by one-directional Sanger sequencing of the amplified region using the same forward primer as in PCR. Out of six Borrelia species detected in the present study, this is the first record of B. afzelii, B. garinii, B. burgdorferi s.s. B. bavariensis, and B. valaisiana in Bosnia and Herzegovina.
Climate change is one of the greatest global concerns regarding livestock production. The indigenous Pramenka sheep is well known for its ability to survive in difficult environmental conditions, although there is insufficient scientific evidence. This study aimed to evaluate the seasonal variations in some hematological and blood biochemical parameters in two strains of Pramenka sheep – Hercegovačka and Dubska, under natural thermal stress conditions. The calculated Temperature-Humidity Index (THI) data indicated mild to severe heat stress in the localities where the Hercegovačka Pramenka strain was being held, while cold stress was found in all the examined localities. Numerous statistically significant differences in hematological parameters were found between seasons, and within and between the two Pramenka strains. The Dubska strain exhibited significantly higher levels of red blood cells (RBC) and packed cell volume (PCV) compared to Hercegovačka, whereas the Hercegovačka strain displayed significantly higher white blood cells (WBC) and platelet (PLT) levels in comparison to Dubska. Similar patterns were noticed in the blood biochemical parameters - the Dubska strain had more seasonal variations compared to the Hercegovačka Pramenka. During the winter, the Hercegovačka strain demonstrated significantly higher levels of total protein (TP), albumin (ALB), urea (UREA), and creatine kinase (CK) compared to Dubska. Conversely, during the summer, the Hercegovačka strain exhibited significantly higher globulin (GLO) levels, whereas the Dubska strain showed higher levels of ALB and chlorine (Cl). On the basis of our results, both Pramenka strains showed a high adaptive capacity to harsh environmental conditions, the Hercegovačka Pramenka being more adapted to heat stress, and Dubska to cold stress conditions.
Numerous archaeological sites in Bosnia and Herzegovina represent a historical heritage and testify to the rich cultural, social, and political life of medieval Bosnia. Bobovac, the capital of the Bosnian Kingdom after King Tvrtko I's coronation in 1377, featured a royal complex with a palace, church, and fortification. Recent molecular-genetic research on skeletal remains from Bobovac aims to uncover medieval ancestors' customs and genetic origins. Fifteen well-preserved teeth samples from Bobovac were processed. STR amplification employed PowerPlex® Fusion and Investigator® 24plex QS Kits, with Y-STR profiles generated using the PowerPlex® Y23 System. Fourteen partial autosomal STR profiles were obtained, enabling sex determination and kinship analysis. STR amplification success varied due to ancient DNA degradation, with larger loci showing lower amplification rates. Kinship analysis confirmed appropriate marker selection, demonstrating high reliability for determining close relationships. Integrating aDNA analysis with archaeological research enhances our understanding of historical populations, connecting archaeology and forensic genetics to contribute to the broader narrative of human history.
In order to ensure the long-term sustainability of the conservation process of Norwegian plum germplasm, as well as to enhance the possibility of its utilization, a central plum heritage cultivar collection was established in 2020. In this study, 40 plum accessions maintained at the Ullensvang plum heritage cultivar collection were genetically characterized using a set of nine microsatellite markers recently approved by the ECPGR Prunus working group. The obtained molecular data were used to investigate the genetic identity, diversity, and structure among the analyzed accessions. No redundancies were detected among the plum accessions, which is in stark contrast to the previous molecular study on plum samples collected through an on-farm inventory of Southern Norway. Furthermore, the obtained data indicate that the Ullensvang collection contains a significant genetic diversity of Norwegian plum germplasm, previously held in decentralized sites. With that in mind, this collection can certainly be considered for the role of the National Clonal Plum Germplasm Repository. The nine microsatellite markers, recommended by ECPGR, revealed a genetic structure not entirely tied to previously proposed pomological groups, possibly indicating a history of hybridization among members of the various groups.
Accurate determination of chromosome centromere location is of high importance in cytogenetics, particularly in karyotyping, chromosome classification and determination of exposure to genotoxic environmental effects. This study investigates the ability of CNN to accurately predict the human chromosome centromere location and the effect centering chromosomes in images, by predicted centromere location, has on classification accuracy. Dataset, used to train and test CNN models, contained 8283 annotated individual chromosome images. Prior to performing centromere detection, followed by chromosome classification, the individual chromosome images are preprocessed using sequence of filtering algorithms. The CNN model achieved an average error of 0.5586 and 0.4543 in predicting x and y coordinates of centromere location, respectively. The achieved classification accuracy of randomly oriented and centered chromosomes in images, is 71.10 and 96.73%, respectively. Achieved increase in chromosome classification accuracy of 25.63% highlights importance of chromosome centromere detection, importance of positional variation removal, and high performance of CNN in prediction of centromere location and chromosome classification.
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