Search

Berkeleyomyces rouxiae, a soil-borne fungal pathogen, causes black root rot on various plant species including carrot, okra, tobacco, lettuce, and other important crops. Here we analyzed the entire genome sequence of a Japanese isolate of B. rouxiae and discovered 25 microsatellite sequences. These sequences were amplified from the genomic DNA of several Japanese isolates by PCR and sequenced, revealing that the microsatellite sequences were polymorphic among isolates. These markers are useful for phylogenetic analysis, epidemiological population analysis, identification of specific isolates, and other genetic investigation of B. rouxiae. [ABSTRACT FROM AUTHOR]

Molecular studies have contributed to the taxonomy of carrageenan-producing Kappaphycus spp. and Eucheuma denticulatum. However, unresolved species complexes and the lack of standardization in the use of genetic markers impede the identification of specimens and the delineation of a robust taxonomic framework. Here, nine molecular markers (cox1, cox2–3 spacer, cox2, cox3, COB, ITS, psbA, UPA and rbcL) were used to generate a multilocus phylogeny for 113 fresh eucheumatoid samples and four herbarium specimens. Analyses of species delineation and genetic distances confirmed the monophyly of currently accepted taxa. These analyses suggest that clades previously reported as K. striatus KS1 and KS2 are conspecific, and that E. denticulatum EDA 'spinosum' and EDB 'endong/cacing' are also conspecific. The results also unveiled possible new taxa from Hawaii and Indonesia. Each molecular marker and combinations thereof were assessed with regard to species identification, ease of amplification and sequencing, and haplotype characterization. All genetic markers recorded at least 94% success in the amplification and sequencing of fresh specimens, with cox1 being the most phylogenetically informative. Automatic partitioning, phylogenetic and tree-based assessments showed cox1, cox2–3 spacer, cox2 and rbcL were able to correctly identify species while cox1+ rbcL, COB+rbcL, cox2+ rbcL or cox1+ COB+rbcL trees best represented the phylogeny with consistently high nodal support. Among individual markers, cox1 identified the greatest number of haplotypes, while UPA, partial rbcL (750 bp), ITS, cox3 and cox2–3 spacer were able to retrieve information from herbarium specimens of 12–16 years of age. These molecular results provide a basis for a database essential for the taxonomic framework, cultivar development and germplasm conservation of eucheumatoids. Highlights: Mitochondria cox1, cox2–3 spacer, cox2 and plastid rbcL can be used for species identification and cox1 for haplotype detection of eucheumatoids. cox1+rbcL, COB+rbcL, cox2+rbcL or cox1+COB+rbcL are the most cost-effective molecular markers for phylogenetic inference. The most comprehensive up to date multilocus phylogeny of Kappaphycus spp. and Eucheuma denticulatum is presented. [ABSTRACT FROM AUTHOR]

DNA mixture analysis poses a significant challenge in forensic genetics, particularly when dealing with degraded and trace amount DNA samples. Multi-SNPs (MNPs) are genetic markers similar to microhaplotypes but with smaller molecular sizes (< 75 bp), making them theoretically more suitable for analyzing degraded and trace amount samples. In this case report, we investigated a cold case involving a campstool stored for over a decade, aiming to detect and locate the suspect's DNA. We employed both conventional capillary electrophoresis-based short tandem repeat (CE-STR) analysis and next-generation sequencing-based multi-SNP (NGS-MNP) analysis. The typing results and deconvolution of the mixed CE-STR profiles were inconclusive regarding the presence of the suspect's DNA in the mixed samples. However, through NGS-MNP analysis and presence probability calculations, we determined that the suspect's DNA was present in the samples from Sect. 4−1 with a probability of 1-8.41 × 10− 6 (99.999159%). This evidence contradicted the suspect's statement and aided in resolving the case. Our findings demonstrate the significant potential of MNP analysis for examining degraded and trace amount DNA mixtures in forensic investigations. [ABSTRACT FROM AUTHOR]

This study presents a large-scale interlaboratory comparison (ILC) aimed at detecting and quantifying DNA from two European anglerfish (Lophius budegassa, Lophius piscatorius), pike (Esox lucius) and sea bream (Spondyliosoma cantharus) using real-time qPCR. To detect amplification of the parvalbumin genetic marker, single and multiplex qPCR assays using EvaGreen® dye or TaqMan™ probes were used. Genomic DNA isolated from target fish species and an advanced DNA calibrator, gBlocks® gene fragments, were used as standards. The DNA of anglerfish, pike and sea bream as well as their mixtures were analysed together with 14 other non-target fish species. All target fish samples were correctly identified by the participating laboratories. Qualitative assessment of anglerfish and seabream DNA showed an accuracy rate of 100%, while pike DNA achieved a match rate of 99%. Validation of quantitative protocols in four different laboratories consistently achieved z-scores below 2, indicating satisfactory performance and confirming the high degree of similarity of laboratory results. Furthermore, high accuracy and efficiency were demonstrated for the quantification of anglerfish and seabream DNA by triplex qPCR using TaqMan™ probes. Regarding the selected gene marker, the major fish allergenic protein parvalbumin enables indirect detection and quantification of the allergen in the sample. Therefore, the use of proposed protocols can significantly contribute to protecting the health of consumers and to controlling the food market. [ABSTRACT FROM AUTHOR]

Cosmocerca is a cosmopolitan genus of endoparasitic nematodes that infect amphibians and reptiles, and currently encompasses 37 species. Given the increasing number of molecular studies examining diverse species within this genus, we aim to elucidate the phylogenetic relationships among Cosmocerca species, identify research gaps, and guide future investigations, particularly within the Neotropical region. We analysed 40 sequences of nuclear (internal transcribed spacer, ITS) and mitochondrial (cytochrome c oxidase subunit 1, COI) genetic markers from available sequenced species. Our results revealed a strong correlation between parasites' phylogeny and their geographic distribution across the world's zoogeographical regions. However, we highlight the paucity of studies on Neotropical Cosmocerca species. These findings can assist subsequent studies to address questions regarding the biology, phylogeography and evolution of Cosmocerca species, contributing to a deeper understanding of the clade Cosmocercidae. [ABSTRACT FROM AUTHOR]

Ketosis, evidenced by hyperketonemia with elevated blood β‐hydroxybutyrate (BHB) levels, is a significant metabolic disorder of dairy cattle, typically diagnosed within the first 6 weeks post‐calving when high energy levels are essential to milk production. Our study aimed to identify genetic markers linked to hyperketonemia (HYK) patterns in Holstein cows during early lactation and compare these to HYK‐negative cows. We screened 964 cows for HYK using a threshold of BHB ≥1.2 mmol/L during the first 2 weeks postpartum (screening period, SP). Cows that tested negative initially were retested the following week. Cows were deemed HYK‐negative (CON group) if BHB levels were below 1.2 mmol/L in both tests, while those with BHB levels exceeding this threshold at any test were treated and classified as HYK‐positive (HYK+). Post‐treatment, HYK+ cows were monitored for two‐week follow‐up period (FP) and classified based on their recovery: cured (CUR; consistently low BHB), recurrent (REC; fluctuating BHB levels), severe (SEV; high initial BHB that decreased), or chronic (CHR; persistently high BHB). Using 489 cows that were genotyped, a GWAS was conducted using GCTA software, revealing significant associations of several SNPs across different HYK patterns when compared to the CON group. These SNPs were primarily linked to genes affecting milk traits and were enriched in biological pathways relevant to protein glycosylation, inflammatory response, glucose homeostasis, and fatty acid synthesis. Our findings highlight genomic regions, potential candidate genes, and biological pathways related to ketosis, underscoring potential targets for improving health management in dairy cattle. These insights could lead to better strategies for managing ketosis through genetic selection, ultimately enhancing dairy cattle welfare and productivity. Further research with a larger number of cows is recommended to validate these findings and help confirm the implicated SNPs and genes. [ABSTRACT FROM AUTHOR]

Boeremia was established to accommodate phoma-resembling fungi. Its species occur in terrestrial ecosystems as endophytes, saprobes and pathogens, except one species reported from a marine ecosystem. Boeremia species are characterized by hyaline, thin-walled, and aseptate (occasionally 1(–2)-septate) conidia that are variable in shape, and hyaline, straight or slightly curved, thick-walled, and 1-septate ascospores that are usually constricted at the septum. In the past, host associations were used to delimit Boeremia species. However, since Boeremia taxa have overlapping morphological characters and are cryptic, it renders taxonomic identification arduous. Therefore, the use of other approaches including multi-gene phylogenetic analyses are imperative. Recommended DNA markers for species delineation are the internal transcribed spacer (ITS, nuclear rDNA consisting of ITS1-5.8S-ITS2) and large subunit (28S, D1–D2 domains of nuclear 28S rDNA) loci, and the genes for actin (ACT1), beta-tubulin (TBB1), RNA polymerase 2 (RPB2) and translation elongation factor 1α (TEF1). Here, we applied morphological and molecular phylogenetic analyses to establish a new taxon (B. albae), and a new host and geographical record for B. maritima associated with leaf spots of Morus alba (Moraceae) in northern Thailand. By providing sequence data for three additional gene regions, our phylogenetic analyses impart a stable phylogenetic placement of the ex-type strain of B. maritima , as illustrated. This is the first study that reports Boeremia species from M. alba , and B. maritima from a terrestrial habitat. • Boeremia taxa are cryptic, and morphologically similar to Phoma. • Boeremia species occur as endophytes, saprobes and pathogens. • Boeremia albae sp. nov. and a new host and location for B. maritima were identified through morphology and phylogeny. • Three additional gene sequences support the classification of B. maritima , previously unreported in a terrestrial habitat. • Including the new taxon, there are 26 species of Boeremia and 14 varieties of Boeremia exigua. [ABSTRACT FROM AUTHOR]

Ethanol stress in Saccharomyces cerevisiae is a well-studied phenomenon, but pinpointing specific genes or polymorphisms governing ethanol tolerance remains a subject of ongoing debate. Naturally found in sugar-rich environments, this yeast has evolved to withstand high ethanol concentrations, primarily produced during fermentation in the presence of suitable oxygen or sugar levels. Originally a defense mechanism against competing microorganisms, yeast-produced ethanol is now a cornerstone of brewing and bioethanol industries, where customized yeasts require high ethanol resistance for economic viability. However, yeast strains exhibit varying degrees of ethanol tolerance, ranging from 8 to 20%, making the genetic architecture of this trait complex and challenging to decipher. In this study, we introduce a novel QTL mapping pipeline to investigate the genetic markers underlying ethanol tolerance in an industrial bioethanol S. cerevisiae strain. By calculating missense mutation frequency in an allele located in a prominent QTL region within a population of 1011 S. cerevisiae strains, we uncovered rare occurrences in gene IRA2. Following molecular validation, we confirmed the significant contribution of this gene to ethanol tolerance, particularly in concentrations exceeding 12% of ethanol. IRA2 pivotal role in stress tolerance due to its participation in the Ras-cAMP pathway was further supported by its involvement in other tolerance responses, including thermotolerance, low pH tolerance, and resistance to acetic acid. Understanding the genetic basis of ethanol stress in S. cerevisiae holds promise for developing robust yeast strains tailored for industrial applications. [ABSTRACT FROM AUTHOR]

Background: Hybridization is a known phenomenon in nature but its genetic impact on populations of parental species remains less understood. We investigated the evolutionary consequences of the interspecific gene flow in several contact zones of closely related pine species. Using a set of genetic markers from both nuclear and organellar genomes, we analyzed four hybrid zones (384 individuals) and a large panel of reference allopatric populations of parental taxa (2104 individuals from 96 stands). Results: We observed reduced genetic diversity in maternally transmitted mitochondrial genomes of pure pine species and hybrids from contact zones compared to reference allopatric populations. The distribution of mtDNA haplotypes followed geographic rather than species boundaries. Additionally, no new haplotypes emerged in the contact zones, instead these zones contained the most common local variants. However, species diverged significantly at nuclear genomes and populations in contact zones exhibited similar or higher genetic diversity compared to the reference stands. There were no signs of admixture in any allopatric population, while clear admixture was evident in the contact zones, indicating that hybridization has a geographically localized effect on the genetic variation of the analyzed pine species. Conclusions: Our results suggest that hybrid zones act as sinks rather than melting pots of genetic diversity. Hybridization influences sympatric populations but is confined to contact zones. The spectrum of parental species ancestry in hybrids reflects the old evolutionary history of the sympatric populations. These findings also imply that introgression may play a crucial role in the adaptation of hybrids to specific environments. [ABSTRACT FROM AUTHOR]

Background: Fusarium head blight (FHB), a devastating disease of wheat production, is predominantly elicited by Fusarium graminearum (Fg). The tetraploid Thinopyrum elongatum is a tertiary gene resource of common wheat that possesses high affinity and displays high resistance traits against multiple biotic and abiotic stress. We aim to employ and utilize the novel FHB resistance resources from the wild germplasm of common wheat for breeding. Results: Durum wheat-tetraploid Th. elongatum amphiploid 8801 was hybridized with common wheat cultivars SM482 and SM51, and the F5 generation was generated. We conducted cytogenetically in situ hybridization (ISH) technologies to select and confirm a genetically stable 7E(7D) substitution line K17-1069-5, which showed FHB expansion resistance in both field and greenhouse infection experiments and displayed no significant disadvantage in agronomic traits compared to their common wheat parents in the field. The F2 segregation populations (K17-1069-5 × SM830) showed that the 7E chromosome conferred dominant FHB resistance with dosage effect. We developed 19 SSR molecular markers specific to chromosome 7E, which could be conducted for genetic mapping and large breeding populations marker-assisted selection (MAS) during selection procedures in the future. We isolated a novel Fhb7 allele from the tetraploid Th. elongatum chromosome 7E (Chr7E) using homology-based cloning, which was designated as TTE7E-Fhb7. Conclusions: In summary, our study developed a novel wheat-tetraploid Thinopyrum elongatum 7E(7D) K17-1069-5 substitution line which contains stable FHB resistance. [ABSTRACT FROM AUTHOR]

Ascochyta blight (AB) disease, caused by the fungal pathogen Ascochyta rabiei, is a major production constraint in many chickpea‐growing regions worldwide, causing substantial reductions in grain yield and seed quality. The management of AB is challenging due to limited genetic resistance and the evolving aggressiveness of A. rabiei. Currently, there is a heavy reliance on visual assessment by expert pathologists for the detection and quantification of disease severity, and limited ability to impartially quantify pathogen growth and inoculum potential in the field. In this study, we address these gaps by developing a single‐copy genetic marker for the sensitive detection and quantification of A. rabiei mycelium and conidiospores. Using a droplet digital PCR (ddPCR) assay, our method provides a sensitive (≤5 × 10−2 pg DNA, 1 gene copy) approach to assess A. rabiei biomass throughout its lifecycle on living and dead plant tissues. The method (i) has specificity to A. rabiei in diseased plant samples; (ii) discriminates among chickpea cultivars with varying AB resistance prior to the onset of visible symptoms; (iii) detects differences in primary A. rabiei conidiospore inoculum load from field‐grown chickpea stubble; and (iv) has potential application to disease management, breeding and epidemiology. [ABSTRACT FROM AUTHOR]

ABSTRACT This study investigated the effects of different doses of vitamin E on oxidative stress, cognitive function, and gene expression in aged mice. A total of 32 male mice, aged 12 months, were divided into a control group and three treatment groups. These groups received varying daily doses of vitamin E for a period of 28 days. The results showed significant improvements in cognitive function, specifically in working memory and spatial learning, in the groups that received vitamin E (100, 200, or 400 mg/kg) compared to the control group. The markers of oxidative stress and antioxidant enzyme activities also demonstrated improvements, with higher doses of vitamin E showing greater effects. The analysis of gene expression revealed increased expression of SIRT1, Nrf2, and Calstabin2, particularly at higher doses of vitamin E. These findings suggest that vitamin E supplementation may help counteract age‐related cellular changes. The study concludes that vitamin E supplementation can reduce oxidative stress, enhance cognitive function, and affect genetic markers of aging in mice, which may have therapeutic benefits in addressing age‐related cognitive decline and oxidative damage. Further research is necessary to investigate the clinical implications of these findings in humans. [ABSTRACT FROM AUTHOR]

Objective Methods Results Significance Brain somatic variants in SLC35A2 were recently identified as a genetic marker for mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). The role of SLC35A2 in cortical development and the contributions of abnormal neurons and oligodendrocytes to seizure activity in MOGHE remain largely unexplored.Here, we generated a novel Slc35a2 floxed allele, which we used to develop two Slc35a2 conditional knockout mouse lines targeting (1) the Emx1 dorsal telencephalic lineage (excitatory neurons and glia) and (2) the Olig2 lineage (oligodendrocytes). We examined brain structure, behavior, and seizure activity.Knockout of Slc35a2 from the Emx1 lineage, which targets both cortical neurons and oligodendrocytes, resulted in early lethality and caused abnormal cortical development, increased oligodendroglial cell density, early onset seizures, and developmental delays akin to what is observed in patients with MOGHE. By tracing neuronal development with 5‐Ethynyl‐2'‐deoxyuridine (EdU) birthdating experiments, we found that Slc35a2 deficiency disrupts corticogenesis by delaying radial migration of neurons from the subventricular zone. To discern the contributions of oligodendrocytes to these phenotypes, we knocked out Slc35a2 from the Olig2 lineage. This recapitulated the increased oligodendroglial cell density and resulted in abnormal electroencephalographic activity, but without a clear seizure phenotype, suggesting Slc35a2 deficiency in neurons is required for epileptogenesis.This study presents two novel Slc35a2 conditional knockout mouse models and characterizes the effects on brain development, behavior, and epileptogenesis. Together, these results demonstrate a direct causal role for SLC35A2 in MOGHE‐like phenotypes, including a critical role in neuronal migration during brain development, and identify neurons as key contributors to SLC35A2‐related epileptogenesis. [ABSTRACT FROM AUTHOR]

Background: Hepatocellular carcinoma (HCC) is a global health concern. Due to late diagnosis and limited therapeutic strategies, HCC based mortality rate is exponentially increasing globally. Genetic predisposition is a non-avoidable intrinsic factor that could alter the genome sequence, ultimately leading to HCC. Protein kinase C eta (PKCη) is involved in key physiological roles, hence alteration in PKCη could aid in cancer progression. Research indicates association between non-synonymous (ns) SNPs and HCC onset. However, effect of nsSNP variants of PKCη on HCC development has not been explored yet. Hence, this study aimed to investigate the association between pathogenic nsSNPs of PKCη with HCC. Methods: Non-synonymous (missense) variants of PKCη were obtained from Ensembl genome browser. These variants were filtered out to obtain pathogenic nsSNPs of PKCη. Genotyping of nsSNPs was done through Tetra ARMS PCR. For that, blood samples of 348 HCC patients and 337 controls were collected. The clinical factors that influence HCC were studied. Relative risk (RR) and Odds Ratio (OR) with 95% confidence interval was calculated by Chi-square test and P-value < 0.05 was deemed significant. Results: Five nsSNP variants of PKCη including rs1162102190 (T/C), rs868127012 (G/T), rs750830348 (G/T), rs768619375 (T/C), and rs752329416 (T/C) were identified. The retrieved nsSNPs were frequently identified in HCC patients. However, rs752329416 T/C was significantly prevalent in patients having HCC family history. Moreover, all the variants were found in HCC patients manifesting the stage II than the advance stages of HCC. Conclusion: This study can be utilized to identify potential genetic markers for early screening of HCC. Moreover, consideration of further clinical factors, and mechanistic approach would enhance the understanding that how alteration in nsSNPs could impact the HCC onset. [ABSTRACT FROM AUTHOR]

As more multi-ancestry GWAS summary data become available, we have developed a comprehensive trans-ancestry pathway analysis framework that effectively utilizes this diverse genetic information. Within this framework, we evaluated various strategies for integrating genetic data at different levels—SNP, gene, and pathway—from multiple ancestry groups. Through extensive simulation studies, we have identified robust strategies that demonstrate superior performance across diverse scenarios. Applying these methods, we analyzed 6,970 pathways for their association with schizophrenia, incorporating data from African, East Asian, and European populations. Our analysis identified over 200 pathways significantly associated with schizophrenia, even after excluding genes near genome-wide significant loci. This approach substantially enhances detection efficiency compared to traditional single-ancestry pathway analysis and the conventional approach that amalgamates single-ancestry pathway analysis results across different ancestry groups. Our framework provides a flexible and effective tool for leveraging the expanding pool of multi-ancestry GWAS summary data, thereby improving our ability to identify biologically relevant pathways that contribute to disease susceptibility. Author summary: Pathway analysis is a powerful tool used to understand genetic associations with diseases. Instead of looking at individual genetic markers (such as single nucleotide polymorphisms, SNPs), it examines the combined effects of multiple markers within biological pathways. This method is more effective for detecting subtle genetic influences on diseases that might be missed when looking at individual markers alone. Our study expands pathway analysis to include data from diverse ancestry groups, which is often overlooked in traditional single-ancestry genetic studies. We developed a comprehensive trans-ancestry pathway analysis framework to effectively utilize diverse genetic data. In our framework, we explore various strategies for integrating genetic data at different levels—SNP, gene, and pathway—from multiple ancestry groups. Through extensive simulations, we identified robust strategies that perform well in diverse scenarios. Applying these methods, we analyzed around 7,000 pathways for their association with schizophrenia, using data from African, East Asian, and European populations. Our analysis identified over 200 pathways significantly associated with schizophrenia, even after excluding genes near genome-wide significant loci. Our approach significantly improves detection efficiency compared to traditional single-ancestry pathway analysis and the conventional approach that amalgamates single-ancestry pathway analysis results across different ancestry groups. This framework offers a flexible and effective tool for leveraging the growing pool of multi-ancestry GWAS data, enhancing our ability to identify biologically relevant pathways contributing to disease susceptibility. [ABSTRACT FROM AUTHOR]

Identifying genetic regions and candidate genes that influence milk production traits is critical for understanding genetic inheritance and improving both the quality and quantity of milk in dairy cattle. Crossbred dairy cattle significantly contribute to increasing milk production and ensuring food security in the middle‐ and high‐altitude regions of Ethiopia. However, the genetic architecture underlying their milk yield and composition traits has not yet been thoroughly investigated. This study conducted a genome‐wide association study (GWAS) on 308 crossbred dairy cows from central, northeastern, and southern Ethiopia to identify genetic markers associated with key milk production traits. Using high‐density SNP chip data and the fixed and random model circulating probability unification (Farm CPU) method via the Memory‐efficient, Visualization‐enhanced, and Parallel‐accelerated R package (rMVP) (Version 1.0.7.), we analyzed traits including test‐day milk yield (TDMY), total protein (TP), casein (CN), whey (W), protein percentage (P), fat percentage (F), lactose percentage (L), total solids (TS), density (D), solids‐not‐fat (SNF), salt (S), and freezing point (FP). This study identified 16 significant SNPs associated with these traits, including rs41661899 on Chromosome 6, which was significantly associated with both TP and W, and rs42274954 on Chromosome 12, which was significantly associated with CN. Eight SNPs, such as rs43560693, rs109098713, rs111029661, rs134499665, rs133908307, rs133627532, rs42098411, and rs110066280, were found across multiple chromosomes (8, 10, 14, 15, 19, 21, 26, and 28, respectively) and were significantly associated with milk P. Additionally, SNPs rs110844447 and rs135995768 on Chromosomes 6 and 14 were significantly associated with D and FP, respectively. Three SNPs, including rs109564259, rs135552551, and rs41620904 on Chromosomes 6, 11, and 24, were significant associations with S. Candidate genes identified near and within these SNPs include TRAM1L1, DIAPH3, PEBP4, WDR89, BCAS3, RALGAPA1, HABP2, NRG3, HPSE, PCDH7, LINC02579, TRNAS‐GGA, and OR5CN1P. These findings enhance our understanding of the genetic architecture of milk‐related traits in Ethiopian dairy cattle and highlight the potential for marker‐assisted selection to improve milk production and composition in breeding programs. [ABSTRACT FROM AUTHOR]

ABSTRACT Current rDNA reference sequence databases are tailored towards shorter DNA markers, such as parts of the 16/18S marker or the internally transcribed spacer (ITS) region. However, due to advances in long‐read DNA sequencing technologies, longer stretches of the rDNA operon are increasingly used in environmental sequencing studies to increase the phylogenetic resolution. There is, therefore, a growing need for longer rDNA reference sequences. Here, we present the ribosomal operon database (ROD), which includes eukaryotic full‐length rDNA operons fished from publicly available genome assemblies. Full‐length operons were detected in 34.1% of the 34,701 examined eukaryotic genome assemblies from NCBI. In most cases (53.1%), more than one operon variant was detected, which can be due to intragenomic operon copy variability, allelic variation in non‐haploid genomes, or technical errors from the sequencing and assembly process. The highest copy number found was 5947 in Zea mays. In total, 453,697 unique operons were detected, with 69,480 operon variant clusters remaining after intragenomic clustering at 99% sequence identity. The operon length varied extensively across eukaryotes, ranging from 4136 to 16,463 bp, which will lead to considerable polymerase chain reaction (PCR) bias during amplification of the entire operon. Clustering the full‐length operons revealed that the different parts (i.e., 18S, 28S, and the hypervariable regions V4 and V9 of 18S) provide divergent taxonomic resolution, with 18S, the V4 and V9 regions being the most conserved. The ROD will be updated regularly to provide an increasing number of full‐length rDNA operons to the scientific community. [ABSTRACT FROM AUTHOR]

The importance of genetic diversity has been recognised by the Convention on Biological Diversity but attempts at monitoring or improving the genetic diversity of populations have been minimal. Here, we investigate changes over time in the genetic diversity of a wild insect species, Maniola jurtina (Lepidoptera: Nymphalidae) and present a large‐scale investigation into contemporary spatial genetic diversity. Using microsatellite markers, we calculate multiple measures of genetic diversity and divergence for M. jurtina populations over 8 years in the UK and compare these findings with long‐term abundance trends. We also conduct a large‐scale spatial analysis into the genetic diversity and population structuring of M. jurtina across Europe. All UK populations sampled have high levels of gene flow and genetic diversity, with genetic diversity stable over time. Across Europe, we find some population structuring between populations in the UK and the European mainland, suggesting restricted geneflow between the two regions. The monitoring of a wild species' genetic diversity is an achievable aim, and one that could be carried out for many species, particularly Lepidoptera. Future approaches may aim to develop higher resolution genetic markers and cover a wider range of species. The use of abundance data offers additional insight, and we find that concurrent, dedicated genetic monitoring can provide effective tracking of biodiversity trends. [ABSTRACT FROM AUTHOR]

Introduction: Early-onset Alzheimer's disease (EOAD) is sporadic, highly heterogeneous, and its underlying pathogenic mechanisms remain largely elusive. Proteomics research aims to uncover the biological processes and key proteins involved in disease progression. However, no proteomic studies to date have specifically focused on EOAD brain tissue. Method: We integrated proteomic data from brain tissues of two Alzheimer's disease (AD) cohorts and constructed a protein co-expression network using weighted gene co-expression network analysis (WGCNA). We identified modules associated with EOAD, conducted functional enrichment analysis to understand the biological processes involved in EOAD, and pinpointed potential key proteins within the core modules most closely linked to AD pathology. Results: In this study, we identified a total of 2,749 proteins associated with EOAD. Through protein co-expression network analysis, we discovered 41 distinct co-expression modules. Notably, the proteins within the core module most closely linked to AD pathology were significantly enriched in neutrophil degranulation. Additionally, we identified two potential key proteins within this core module that have not been previously reported in AD and validated their expression levels in 5xFAD mice. Conclusion: In summary, through a protein co-expression network analysis, we identified EOAD-related biological processes and molecular pathways, and screened and validated two key proteins, ERBB2IP and LSP1. These proteins may play an important role in the progression of EOAD, suggesting they could serve as potential therapeutic targets for the disease. [ABSTRACT FROM AUTHOR]

Gliomas are malignant tumors originating from both neuroglial cells and neural stem cells. The involvement of neural stem cells contributes to the tumor's heterogeneity, affecting its metabolic features, development, and response to therapy. This review provides a brief introduction to the importance of metabolism in gliomas before systematically categorizing them into specific groups based on their histological and molecular genetic markers. Metabolism plays a critical role in glioma biology, as tumor cells rely heavily on altered metabolic pathways to support their rapid growth, survival, and progression. Dysregulated metabolic processes, involving carbohydrates, lipids, and amino acids not only fuel tumor development but also contribute to therapy resistance and metastatic potential. By understanding these metabolic changes, key intervention points, such as mutations in genes like RTK, EGFR, RAS, and IDH can be identified, paving the way for novel therapeutic strategies. This review emphasizes the connection between metabolic pathways and clinical challenges, offering actionable insights for future research and therapeutic development in gliomas. [ABSTRACT FROM AUTHOR]

Enteritis caused by Vibrio is a highly die-off disease that severely impeded substantial production in seahorse aquaculture. In the present study, challenged with LD50 of concentration of Vibrio harveyi, a total of 161 of susceptible and 166 of resistant individuals were allocated into binary survival phenotypes, thus, to firstly investigate the genetic architecture by genome-wide association study (GWAS) analysis, as well as to evaluate the feasibility of genomic selection (GS) in enteritis disease resistance trait of the lined seahorse Hippocampus erectus. Results indicated that the heritability for resistance to Vibrio harveyi was estimated to be 0.10. And a set of 10 significant/suggestive SNPs in a multiple chromosomes localization were identified, explaining 7.76% to 13.28% of genetic variance. Associated 82 of candidate genes were clustered into signal transduction, cell proliferation, response of external stress, bacteria defence, and antiinflammatory processes. Moreover, the potential performance of genomic selection (GS) in application in selective breeding for enteritis disease resistance seahorses was assessed by genomic prediction (GP). In general, the predictive accuracy of the genomic estimated breeding value (GEBV) of BayesC exceeded the rrBLUP, BayesA, RKHS, and SVM models while with no significant difference. And the GWAS-informative SNPs was significantly superior in efficience than random selected markers by comparison of predictive performance on different selection strategies of SNPs. Overall, the genetic basis of enteritis disease resistance trait in the lined seahorse is a polygenic genetic architecture. SNPs associated with the important genes of cathepsin L1-like previously reported with respect to disease resistance are consider as potential molecular markers of genetic breeding. Furthermore, GS approach is an appropriate, effective, and less-cost application in breeding enteritis disease-resistant seahorses. [ABSTRACT FROM AUTHOR]

The reproductive efficiency of livestock is crucial for agricultural productivity and economic sustainability. One critical factor in successful fertilization and the viability of offspring is the quality of semen. Poor semen quality, especially in frozen-thawed semen used in artificial insemination (AI) have been shown to influence conception outcomes, resulting a negative impact on livestock production. Recent advancements in genetic research have identified specific markers linked to semen quality traits in various livestock species, such as cattle, sheep, goats, pigs, buffalo, and equines. These genetic markers are essential in screening males for breeding suitability, which in turn enhances selective breeding programs. Understanding these markers is crucial for improving reproductive performance and increasing productivity in livestock populations. This review offers a comprehensive overview of the genetic markers associated with semen quality in key livestock. It explores the underlying genetic mechanisms and their practical implications in animal breeding and management. The review underscores the importance of integrating genetic insights into breeding strategies to optimize reproductive efficiency and ensure the sustainable development of livestock industries. [ABSTRACT FROM AUTHOR]

Investigating the involvement of long non-coding RNAs (lncRNAs) and epigenetic processes in bovine adipocytes can provide valuable new insights into controlling adipogenesis in livestock. Long non-coding RNAs have been associated with forming chromatin loops that facilitate enhancer-promoter interactions during adipogenesis, as well as regulating important adipogenic transcription factors like C/EBPa and PPARγ. They significantly influence gene expression regulation at the post-transcriptional level and are extensively researched for their diverse roles in cellular functions. Epigenetic modifications such as chromatin reorganization, histone alterations, and DNA methylation subsequently affect the activation of genes related to adipogenesis and the progression of adipocyte differentiation. By investigating how fat deposition is epigenetically regulated in beef cattle, scientists aim to unravel molecular mechanisms, identify key regulatory genes and pathways, and develop targeted strategies for modifying fat deposition to enhance desirable traits such as marbling and meat tenderness. This review paper delves into lncRNAs and epigenetic factors and their role in regulating bovine adipocytes while focusing on their potential as targets for genetic improvement to increase production efficiency. Recent genomics advancements, including molecular markers and genetic variations, can boost animal productivity, meeting global demands for high-quality meat products. This review establishes a foundation for future research on understanding regulatory networks linked to lncRNAs and epigenetic changes, contributing to both scholarly knowledge advancement and practical applications within animal agriculture. [ABSTRACT FROM AUTHOR]

Background: In the domain of forensic science, the application of kinship identification and mixture deconvolution techniques are of critical importance, providing robust scientific evidence for the resolution of complex cases. Microhaplotypes, as the emerging class of genetic markers, have been widely studied in forensics due to their high polymorphisms and excellent stability. Results and discussion: In this research, a novel and high-efficient panel integrating 33 microhaplotype loci along with a sex-determining locus was developed by the next generation sequencing technology. In addition, we also assessed its forensic utility and delved into its capacity for kinship analysis and mixture deconvolution. The average effective number of alleles (Ae) of the 33 microhaplotype loci in the Guizhou Han population was 6.06, and the Ae values of 30 loci were greater than 5. The cumulative power of discrimination and cumulative power of exclusion values of the novel panel in the Guizhou Han population were 1-5.6 × 10− 43 and 1-1.6 × 10− 15, respectively. In the simulated kinship analysis, the panel could effectively distinguish between parent-child, full-sibling, half-sibling, grandfather-grandson, aunt-nephew and unrelated individuals, but uncertainty rates clearly increased when distinguishing between first cousins and unrelated individuals. For the mixtures, the novel panel had demonstrated excellent performance in estimating the number of contributors of mixtures with 1 to 5 contributors in combination with the machine learning methods. Conclusions: In summary, we have developed a small and high-efficient panel for forensic genetics, which could provide novel insights into forensic complex kinships testing and mixture deconvolution. [ABSTRACT FROM AUTHOR]

Subacute sclerosing panencephalitis (SSPE) is a progressive and catastrophic neurodegenerative disorder due to persistent infection with the aberrant measles virus in the brain. The exact etiology of SSPE is still unknown, and early diagnosis remains a challenge, especially with the atypical presentations. The pathogenesis of SSPE involves a complex interplay between viral factors and immunological response of the host. The presenting review demonstrates an extensive glimpse of the immuno‐genetics of SSPE, exploring the single‐nucleotide polymorphisms (SNPs), genetic risk factors and immune responses that influence susceptibility and disease progression. [ABSTRACT FROM AUTHOR]

Introduction: Multiple linked single nucleotide polymorphisms (SNPs) have shown potential in personal identification and mixture detection. However, the limited number of marker and sequencing errors have obstructed accurate DNA typing. Methods: To develop more candidate loci, the diversity value (D-value) was introduced as a new parameter for screening the novel polymorphic multiple linked-SNP markers, referred to as multi-SNP. In this study, a "FD Multi-SNP Mixture Kit" comprising 567 multi-SNPs was developed for mixture detection. Additionally, a new computational error correction method was applied as a quality control approach for sequencing data. Results: The results demonstrated higher typing success rates than the conventional CE typing method. For single-source DNA, approximately 70-80 loci were detected with a DNA input of 0.009765625 ng. More than 65% of the minor alleles were distinguishable at 1 ng DNA with a frequency of 0.5% in 2- to 4- person mixtures. Conclusion: This study offers a polymorphic and high-resolution detection method for DNA genotyping and complex mixture detection, providing an alternative strategy for addressing challenging mixed DNA traces. [ABSTRACT FROM AUTHOR]

Access to safe drinking water sources and appropriate sanitation facilities remains a dream in low and middle-income countries including South Africa. This study identified the origin of faecal pollution by using quantitative polymerase chain reaction (qPCR) targeting host-specific Bacteroidales genetic markers to track the distribution of human-specific (BacHum) and animal-specific (cattle—BacCow, chicken—Cytb, pig—Pig-2-Bac, dog—BacCan) markers in water sources used by rural communities of the Vhembe District Municipality (VDM). Results revealed the prevalence of BacHum, BacCow, and BacCan in all surface water sources in Thulamela Local Municipality (TLM) and Collins Chabane Local Municipality (CLM) during wet (100%) and dry seasons (50–75%). Cytb was not detected in untreated spring water in TLM and CLM, and Pig-2-Bac was not detected in untreated hand-dug well water in TLM during both seasons. Household-level analysis detected Cytb (28.8% wet, 17.5% dry), BacHum (34.4% wet, 25% dry for Pig-2-Bac) in stored untreated spring water in CLM, and Cytb (42.9% wet, 28.5% dry) in untreated hand-dug well water in TLM. Despite differences in detection frequencies of host-specific Bacteroidales, the study highlights the public health concern of faecal pollution in rural VDM households. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Materials and Methods Results Conclusion Proliferative verrucous leukoplakia (PVL) is an oral potentially malignant disorder. Forms that affect only one tissue are poorly studied, especially the exclusively gingival PVL (gPVL), which may have a more increased malignant transformation potential. The aim of the present study was to characterise the gPVL and its risk of malignant transformation to better raise awareness of this specific disorder.The systematic review was performed on PubMed, Scopus, Web of Science and Google Scholar. Only articles reporting primary studies, case reports and case series were included. The meta‐analysis was performed for the cancer prevalence, proportion of smokers, age and sex ratio, recurrences of gPVL and mortality.A total of 1298 studies were assessed for eligibility by reading titles and abstracts. Fourteen original articles were included with a total of 58 patients. The malignant transformation rate of gPVL was 47.75%. The mortality was 5.84%. The mean follow‐up duration before malignant transformation was 3 years.gPVL seems to have a faster malignant transformation rate than the other forms of PVL. Finding anatomo‐pathological or genetic markers could be a line of research to predict gPVL malignant transformation and improve its diagnosis and treatment. [ABSTRACT FROM AUTHOR]

The orchid Dactylorhiza cantabrica H.A. Pedersen is a narrow endemic occurring in the western Cantabrian Mountains in northwest Spain. Previous allozyme and morphological studies suggest that it might have resulted from the hybridization of two widespread congeners: the triploid Dactylorhiza insularis and the diploid Dactylorhiza sambucina. However, this hypothesis has not been tested using multiple genetic markers necessary to analyze phylogenies in complex genera such as Dactylorhiza. In this study, the Hyb‐Seq technique is applied together with the universal Angiosperms353 probe kit to sequence multiple plastid and low‐copy nuclear genes. The phylogenetic relationships between the three species, estimated based on 269 and 266 nuclear genes under concatenation and coalescent‐based approaches, respectively, revealed highly supported clades containing each putative parent, D. insularis and D. sambucina. The position of D. cantabrica was not well resolved, suggesting the existence of mixed inheritance, where different genes come from each parent. Phylogenetic networks, used for visualizing the conflict between nuclear gene trees, placed D. cantabrica between the two parents and revealed high levels of reticulation. In addition, nuclear genetic variation within and among species was explored with allele frequency‐based tools further supporting the intermediate position of D. cantabrica and the hypothesis of a recent hybrid origin. Finally, 75 plastid genes revealed that D. insularis might have been the maternal donor. Altogether, our results point to the allopolyploid origin of D. cantabrica from D. insularis and D. sambucina, as well as to the clear genetic differentiation of the two parental species. [ABSTRACT FROM AUTHOR]

Chronic tuberculosis (TB) disease, which requires months-long chemotherapy with multiple antibiotics, is defined by diverse pathological manifestations and bacterial phenotypes. Targeting drug-tolerant bacteria in the host is critical to achieving a faster and durable cure for TB. In order to facilitate this field of research, we need to consider the physiology of persistent MTB during infection, which is often associated with the nonreplicating (NR) state. However, the traditional approach to quantifying bacterial burden through colony enumeration alone only informs on the abundance of live bacilli at the time of sampling, and provides an incomplete picture of the replicative state of the pathogen and the extent to which bacterial replication is balanced by ongoing cell death. Modern approaches to profiling bacterial replication status provide a better understanding of inter- and intra-population dynamics under different culture conditions and in distinct host microenvironments. While some methods use molecular markers of DNA replication and cell division, other approaches take advantage of advances in the field of microfluidics and live-cell microscopy. Considerable effort has been made over the past few decades to develop preclinical in vivo models of TB infection and some are recognized for more closely recapitulating clinical disease pathology than others. Unique lesion compartments presenting different environmental conditions produce significant heterogeneity between Mycobacterium tuberculosis populations within the host. While cellular lesion compartments appear to be more permissive of ongoing bacterial replication, caseous foci are associated with the maintenance of M. tuberculosis in a state of static equilibrium. The accurate identification of nonreplicators and where they hide within the host have significant implications for the way novel chemotherapeutic agents and regimens are designed for persistent infections. [ABSTRACT FROM AUTHOR]

Background: Nelore cattle play a key role in tropical production systems due to their resilience to harsh conditions, such as heat stress and seasonally poor nutrition. Monitoring their genetic diversity is essential to manage the negative impacts of inbreeding. Traditionally, inbreeding and inbreeding depression are assessed by pedigree-based coefficients (F), but recently, genetic markers have been preferred for their precision in capturing the inbreeding level and identifying animals at risk of reduced productive and reproductive performance. Hence, we compared the inbreeding and inbreeding depression for productive and reproductive performance traits in Nelore cattle using different inbreeding coefficient estimation methods from pedigree information (FPed), the genomic relationship matrix (FGRM), runs of homozygosity (FROH) of different lengths (> 1 Mb (genome), between 1 and 2 Mb - FROH 1−2; 2–4 Mb FROH 2−4 or > 8 Mb FROH >8) and excess homozygosity (FSNP). Results: The correlation between FPed and FROH was lower when the latter was based on shorter segments (r = 0.15 with FROH 1−2, r = 0.20 with FROH 2−4 and r = 0.28 with FROH 4−8). Meanwhile, the FPed had a moderate correlation with FSNP (r = 0.47) and high correlation with FROH >8 (r = 0.58) and FROH−genome (r = 0.60). The FROH−genome was highly correlated with inbreeding based on FROH>8 (r = 0.93) and FSNP (r = 0.88). The FGRM exhibited a high correlation with FROH−genome (r = 0.55) and FROH >8 (r = 0.51) and a lower correlation with other inbreeding estimators varying from 0.30 for FROH 2−4 to 0.37 for FROH 1−2. Increased levels of inbreeding had a negative impact on the productive and reproductive performance of Nelore cattle. The unfavorable inbreeding effect on productive and reproductive traits ranged from 0.12 to 0.51 for FPed, 0.19–0.59 for FGRM, 0.21–0.58 for FROH−genome, and 0.19–0.54 for FSNP per 1% of inbreeding scaled on the percentage of the mean. When scaling the linear regression coefficients on the standard deviation, the unfavorable inbreeding effect varied from 0.43 to 1.56% for FPed, 0.49–1.97% for FGRM, 0.34–2.2% for FROH−genome, and 0.50–1.62% for FSNP per 1% of inbreeding. The impact of the homozygous segments on reproductive and performance traits varied based on the chromosomes. This shows that specific homozygous chromosome segments can be signs of positive selection due to their beneficial effects on the traits. Conclusions: The low correlation observed between FPed and genomic-based inbreeding estimates suggests that the presence of animals with one unknown parent (sire or dam) in the pedigree does not account for ancient inbreeding. The ROH hotspots surround genes related to reproduction, growth, meat quality, and adaptation to environmental stress. Inbreeding depression has adverse effects on productive and reproductive traits in Nelore cattle, particularly on age at puberty in young bulls and heifer calving at 30 months, as well as on scrotal circumference and body weight when scaled on the standard deviation of the trait. [ABSTRACT FROM AUTHOR]

Flowering time is an important agronomic trait for canola breeders, as it provides growers with options for minimizing exposure to heat stress during flowering and to more effectively utilize soil moisture. Plants have evolved various systems to control seasonal rhythms in reproductive phenology including an internal circadian clock that responds to environmental signals. In this study, we used canola cultivar 'Westar' as a recurrent parent and canola cultivar 'Surpass 400' as the donor parent to generate a chromosome segment substitution line (CSSL) and to map a flowering time locus on chromosome A10 using molecular marker-assisted selection. This CSSL contains an introgressed 4.6 mega-bases (Mb) segment (between 13 and 17.6 Mb) of Surpass 400, which substantially delayed flowering compared with Westar. To map flowering time gene(s) within this locus, eight introgression lines (ILs) were developed carrying a series of different lengths of introgressed chromosome A10 segments using five co-dominant polymorphic markers located at 13.5, 14.0, 14.5, 15.0, 15.5, and 16.0 Mb. Eight ILs were crossed with Westar reciprocally and flowering time of resultant 16 F1 hybrids and parents were evaluated in a greenhouse (2021 and 2022). Four ILs (IL005, IL017, IL035, and IL013) showed delayed flowering compared to Westar (P < 0.0001), and their reciprocal crosses displayed a phenotype intermediate in flowering time of both homozygote parents. These results indicated that flowering time is partial or incomplete dominance, and the flowering time locus mapped within a 1 Mb region between two co-dominant polymorphic markers at 14.5–15.5 Mb on chromosome A10. The flowering time locus was delineated to be between 14.60 and 15.5 Mb based on genotypic data at the crossover site, and candidate genes within this region are associated with flowering time in canola and/or Arabidopsis. The co-dominant markers identified on chromosome A10 should be useful for marker assisted selection in breeding programs but will need to be validated to other breeding populations or germplasm accessions of canola. [ABSTRACT FROM AUTHOR]

Purpose: More accurate prediction of phenotype traits can increase the success of genomic selection in both plant and animal breeding studies and provide more reliable disease risk prediction in humans. Traditional approaches typically use regression models based on linear assumptions between the genetic markers and the traits of interest. Non-linear models have been considered as an alternative tool for modeling genomic interactions (i.e. non-additive effects) and other subtle non-linear patterns between markers and phenotype. Deep learning has become a state-of-the-art non-linear prediction method for sound, image and language data. However, genomic data is better represented in a tabular format. The existing literature on deep learning for tabular data proposes a wide range of novel architectures and reports successful results on various datasets. Tabular deep learning applications in genome-wide prediction (GWP) are still rare. In this work, we perform an overview of the main families of recent deep learning architectures for tabular data and apply them to multi-trait regression and multi-class classification for GWP on real gene datasets. Methods: The study involves an extensive overview of recent deep learning architectures for tabular data learning: NODE, TabNet, TabR, TabTransformer, FT-Transformer, AutoInt, GANDALF, SAINT and LassoNet. These architectures are applied to multi-trait GWP. Comprehensive benchmarks of various tabular deep learning methods are conducted to identify best practices and determine their effectiveness compared to traditional methods. Results: Extensive experimental results on several genomic datasets (three for multi-trait regression and two for multi-class classification) highlight LassoNet as a standout performer, surpassing both other tabular deep learning models and the highly efficient tree based LightGBM method in terms of both best prediction accuracy and computing efficiency. Conclusion: Through series of evaluations on real-world genomic datasets, the study identifies LassoNet as a standout performer, surpassing decision tree methods like LightGBM and other tabular deep learning architectures in terms of both predictive accuracy and computing efficiency. Moreover, the inherent variable selection property of LassoNet provides a systematic way to find important genetic markers that contribute to phenotype expression. [ABSTRACT FROM AUTHOR]

Dolichandrone spathacea is a mangrove associate with high medicinal and ecological values. However, due to the dual-pressure of climate change and human activities, D. spathacea has become endangered in China. Moreover, misidentification between D. spathacea and its terrestrial relative D. cauda-felina poses further challenges to field protection and proper medicinal usage of D. spathacea. Thus, to address these problems, we sequenced and assembled mitochondrial (mt) and chloroplast (cp) genomes for both D. spathacea and D. cauda-felina. Comparative analysis revealed apparently different size and scaffold number between the two mt genomes, but a high similarity between the cp genomes. Eight regions with high sequence divergence were identified between the two cp genomes, which might be used for developing candidate DNA markers for distinguishing the two species. The splitting between D. spathacea and D. cauda-felina was inferred to occur at ~6.8 - 7.7 million years ago (Mya), which may be driven by the environment fluctuations in late Miocene. In the cp genome, 12 genes related to the expression of photosynthesis-associated proteins were detected with signatures of positive selection, which may contribute to the origin and evolutionary adaptation of Dolichandrone mangrove species. These new findings do not only enrich organelle genomic resources of Dolichandrone species, but also provide important genetic clues for improving the conservation and proper usage of endangered mangrove associate D. spathacea. [ABSTRACT FROM AUTHOR]

Genetic markers play a central role in understanding genetic diversity, speciation, evolutionary processes, and how species respond to environmental stresses. However, conventional molecular markers are less effective when studying polyploid species with large genomes. In this study, we compared gene expression levels in 101 accessions of Elymus sibiricus, a widely distributed allotetraploid forage species across the Eurasian continent. A total of 20,273 high quality transcriptomic SNPs were identified. In addition, 72,344 evolutionary information loci of these accessions of E. sibiricus were identified using genome skimming data in conjunction with the assembled composite genome. The population structure results suggest that transcriptome SNPs were more effective than SNPs derived from genome skimming data in revealing the population structure of E. sibiricus from different locations, and also outperformed gene expression levels. Compared with transcriptome SNPs, the investigation of population-specifically-expressed genes (PSEGs) using expression levels revealed a larger number of locally adapted genes mainly involved in the ion response process in the Sichuan, Inner Mongolia, and Xizang geographical groups. Furthermore, we performed the weighted gene co-expression network analysis (WGCNA) and successfully identified potential regulators of PSEGs. Therefore, for species lacking genomic information, the use of transcriptome SNPs is an efficient approach to perform population structure analysis. In addition, analyzing genes under selection through nucleotide diversity and genetic differentiation index analysis based on transcriptome SNPs, and exploring PSEG through expression levels is an effective method for analyzing locally adaptive genes. [ABSTRACT FROM AUTHOR]

Objective: To explore expression and prognostic value of oncostatin M (OSM) in endometrial cancer and to analyze relationship between OSM expression and immune cell infiltration in endometrial cancer tissues. Methods: OSM expression in pan-cancer was analyzed by TIMER database, OSM expression in endometrial cancer and normal tissues was compared, and survival analysis for patients with different OSM expression was performed; relationship between OSM expression and immune cell infiltration was analyzed by TIMER and TISIDB, and ssGSEA algorithm was used to calculate difference in abundance of immune cell infiltration in samples with different OSM expression; GSEA software was applied to perform enrichment analysis; clinical tissue samples were collected for validation. Results: OSM expression was higher in endometrial cancer tissues than that in normal endometrial tissues (P=4.1e-28), and endometrial cancer patients with high OSM expression had prolonged recurrence-free survival (RFS) (P=0.004 8). OSM expression was positively correlated with abundance of immune cell infiltration and genetic markers of immune cells (P<0.05). OSM was mainly enriched in immune-related signaling pathways. OSM expression was higher in endometrial cancer tissues than normal and atypical hyperplastic tissues (P=0.016 9). Proportions of immune cell markers CD4, CD8, and CD68 were increased in tumor tissues with high OSM expression (all P<0.05), which were positively correlated with OSM expression. Conclusion: OSM is highly expressed in endometrial cancer tissues and correlated with prognosis; OSM expression is positively correlated with immune cell infiltration level and can be used as a biomarker for immunotherapy and prognosis. [ABSTRACT FROM AUTHOR]

Recent studies have shown a highly positive effect of physical exercise on the overall condition of the body. The observed changes occur at the cellular level – proliferation, oxidative respiration, ROS degradation, whole-organism homeostasis improvement and ageing inhibition. The longevity regulating pathway is a broad term encompassing all the biochemical actions that contribute to keeping the organism in good condition and prolonging life duration. The overall aim of the present study was to describe the correlation between intensive physical activity and the expression of genes involved in biochemical processes related to longevity. A group of n=10 Arabian horses taking part in an endurance ride for 120 km were included in the study. Blood samples from the horses were taken before and after the ride to perform comparative analyses of the transcriptome profiles. Using high-throughput NGS and bioinformatics tools, the group of 9 genes with the highest up- and downregulation fold change (FC) rates were identified: PTEN, IRS2, SESN2, CCND1, TBC1D1, FOXO1, KL, TP53, and SOD2. The results of this study could lead to the identification of a genetic marker for hot-blooded horse breeding. [ABSTRACT FROM AUTHOR]

Background: Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder resulting from the inheritance of MEFV gene mutations. Patients with FMF are at increased risk of secondary amyloidosis, namely type AA. In some Mediterranean populations, the a genotype was associated with the development of renal amyloidosis, a finding not reproduced in other populations. Our study aimed to assess the association of SAA I genotypes with renal involvement. Methods: This is a retrospective analysis of FMF patients which were followed at our institute between January 2016 and August 2022. Familial Mediterranean Fever screening was performed using polymerase chain reaction and reverse hybridization techniques. Statistical analysis was performed using bivariate logistic regression. Results: MEFV analysis of the studied patients (n = 427) identified 52 patients with a homozygous genotype (12.1%) and 374 with a heterozygous genotype (87.5%). The heterozygous group were mostly heterozygous carriers of a single FMF variant (81%), while 19% were compound heterozygous. Renal involvement was revealed in 95 patients (22.2%), which were manifested as proteinuria (21.3%) and/or renal impairment in 4 patients (3%). The clinical diagnosis of amyloidosis was suspected in 6 patients only (1.4%). Analysis for SAAI gene genotype-phenotype correlation showed that patients with the SAAI. III.I (OR = 0.54, P = .452) was not statistically associated with renal involvement. Pearson Chi-square was performed to examine the association between FMF homozygosity and each SAAI genotype, which showed a significant association between FMF gene homozygosity with SAAI.III.I genotype (χ²= 8.06, P = .018). Conclusion: In our Jordanian FMF population, we report low rates of renal involvement with a high rate of the β haplotype (SAAI.5). Neither the α/α nor the β/β genotypes were associated with evidence of renal involvement. [ABSTRACT FROM AUTHOR]

The study of the state of Baikal endemic sponge populations is of great interest because of the occurrence of mass mortalities and disease in recent decades. To identify possible signs of species vulnerability to extinction, it is crucial to develop appropriate genetic markers that help developing measures for conservation.In this paper, we describe the population genetic structure of the Baikal endemic sponge Lubomirskia baikalensis examined with the set of microsatellite markers we developed. We analysed 251 samples from eight locations that cover all three basins of Lake Baikal.A genetic subdivision into three clusters was revealed. Such a structure can be explained mainly by the low ability of larvae to disperse.Despite the presence of dead and diseased individuals in all studied locations, all populations were in Hardy–Weinberg equilibrium and no bottleneck effect was found at all.This is the first time that a genetic connectivity study has been performed for L. baikalensis, a species endemic of Lake Baikal.Reconstruction of the changes in the effective population size agrees with the results obtained during drill sample analysis and it demonstrates that the effective population size was 55.5 times lower about 24,000 years ago, which indicates that apparently there is no threat of extinction of the Baikal endemic sponges at present. [ABSTRACT FROM AUTHOR]

Background: Pediatric hypertension is an increasingly recognized condition that poses significant health risks both in childhood and later in life. An integrated approach, encompassing genetics, environmental factors, and clinical practices, is essential for effective management and prevention. Methods: This retrospective study involved 120 pediatric patients diagnosed with hypertension, recruited from a tertiary care center. The study examined the impact of comprehensive care versus standard care, analyzed the association of genetic markers such as AGTR1 polymorphism, NOS3 variant, and CYP4A11 mutation with hypertension risk, and assessed the influence of environmental factors such as diet and physical activity on blood pressure. The effectiveness of routine clinical monitoring was also evaluated. Results: Comprehensive care significantly improved hypertension management compared to standard care, with an odds ratio (OR) of 1.8 (95% Confidence Interval [CI]: 1.2-2.7, P=0.004). Genetic analysis revealed that AGTR1 polymorphism was significantly associated with an increased risk of hypertension (OR: 2.5, 95% CI: 1.6-3.9, P=0.001). High physical activity and a balanced diet were associated with reduced hypertension risk (OR: 0.5, P=0.002 and OR: 0.6, P=0.010, respectively), whereas poor diet increased the risk (OR: 2.0, P=0.003). Routine monitoring was found to be highly effective in managing pediatric hypertension (OR: 0.4, P<0.001). Conclusion: The findings support the efficacy of an integrated approach to managing pediatric hypertension, highlighting the importance of genetic screening, environmental modifications, and rigorous clinical monitoring. These strategies collectively contribute to improved blood pressure control and better long-term health outcomes in pediatric populations. [ABSTRACT FROM AUTHOR]

Biscogniauxia mediterranea is a pathogenic fungus associated with Quercus species causing charcoal canker disease in forests. Its phenotypic and genetic variability has been well studied in Tunisia but little is known about its demographic history. Population dynamic of B. mediterranea was evaluated among 30 isolates from different cork oak forests in Northwestern Tunisia. The genetic structure analyzed with two DNA markers (ITS and tef-1α) showed low genetic differentiation associated with high genetic flow among populations. The polymorphism analysis showed low nucleotide diversity but high haplotypic diversity among and within B. mediterranea populations which could be due to rapid growth from a small ancestral population. This hints at recent population growth after a period of decline likely due to a catastrophic event involving fires and human-induced tree cutting. The resulting genetic diversity within populations primarily arises from the emergence of new haplotypes. Overall, this study provides insights into the polymorphism of B. mediterranea and its potential adaptive strategy. [ABSTRACT FROM AUTHOR]

During the 2022 growing season, commercial crops of onion (Allium cepa cv. Medusa) were found to be affected by an extensive leaf blight in south western Slovakia. The pathogen present on diseased leaves was isolated and identified as Stemphylium vesicarium through morphological and molecular analyses, utilizing three DNA markers (ITS, tef1-α, and β-tubulin). A detailed description and illustration of the fungus are provided. Although this pathogen is already present in Slovakia, this is the first record of S. vesicarium causing leaf blight on A. cepa in the country. Pathogenicity tests with a fungal isolate were performed on three local cultivars of onion plants in the laboratory, indicating varying susceptibility of the cultivars to S. vesicarium. [ABSTRACT FROM AUTHOR]

Introduction: Synchronous colorectal adenocarcinoma with neuroendocrine tumour (NET) are a unique combination of tumours. These may be incidental lesions, usually a histopathological diagnosis rather than a clinical diagnosis from symptoms, examination or even gross appearances. Aim: This paper aims to highlight our management strategy on manging a middle-aged woman with synchronous rectal adenocarcinoma and NET. Case study: A 53-year-old woman presented with lower gastrointestinal bleeding with constitutional symptoms. Clinical examination and colonoscopy revealed a classical rectal adenocarcinoma, confirmed via biopsy. However, the final histopathology reports of the resected tumour revealed an early rectal adenocarcinoma with synchronous NET. Results and discussion: We review the relevant literature and a discussion regarding guidelines available for diagnosis, follow-up and surveillance of this rare case. Conclusions: There are no current guidelines for surveillance colonoscopy after detecting gastrointestinal NET, particularly synchronous tumours. NET may be another colorectal cancer risk factor with similar mutations and common genetic markers. Clinicians should consider doing a colonoscopy when or if their patients are diagnosed with any gastrointestinal NET. Detection of any NET warrants a thorough evaluation of the whole colon for colorectal cancer and close surveillance so that timely management can be achieved. [ABSTRACT FROM AUTHOR]

Context: Wheat (Triticum aestivum L.) is an important crop that provides food to millions of people all over the world. Currently, wheat production is limited due to various biotic and abiotic stresses resulting from uneven patterns of climate change. Therefore, it is very important to develop climate-resilient wheat cultivars. Crop genetic diversity allows the scientific community to identify genetic variations that can be utilised in the development of improved cultivars. Aims: This study planned to characterise the wheat germplasm with the iPBS-retrotransposons marker system. Methods: A total of 30 iPBS-retrotransposons markers were screened and among these, the 12 most polymorphic markers were selected for further analysis. Key results: Molecular characterisation yielded a total of 170 bands, of which 143 were polymorphic. A substantial level of genetic diversity was observed (mean effective number of alleles: 1.37, Shannon's information index: 0.23, gene diversity: 0.35). Maximum genetic distance was observed in G9 and G60 genotypes. Analysis of molecular variance revealed that most genetic variation (95%) occurred within the populations. The model-based structure algorithm divided the studied germplasm into three populations based on their collection regions. Similarly, the neighbour-joining analysis also divided 70 tested wheat genotypes into three populations, whereas principal coordinate analysis divided the evaluated germplasm into four populations. Conclusions: This study confirms the iPBS-retrotransposons as an ideal marker for the genetic diversity assessment studies for any crop, especially for wheat. Implications: The results presented here will be helpful for the scientific community in the marker-assisted breeding of wheat. Wheat, a vital global food source, faces production limitations due to climate-induced stresses. Developing resilient cultivars is crucial. Genetic diversity aids in identifying variations for improved cultivars. This study utilised iPBS-retrotransposons to characterise wheat germplasm, yielding 170 bands. Genetic distance highlighted G9 and G60 as genetically distinct genotypes. Different methods identified three or four distinct groups of genotypes amongst the studied germplasm. This informs targeted breeding strategies for enhanced wheat varieties. This article belongs to the Collection Plant breeding- and genetics-based tools for food security under changing climate. [ABSTRACT FROM AUTHOR]

Preimplantation embryonic arrest is an important pathogenesis of female infertility, but little is known about the genetic factors behind this phenotype. MEI4 is an essential protein for DNA double-strand break formation during meiosis, and Mei4 knock-out female mice are viable but sterile, indicating that MEI4 plays a crucial role in reproduction. To date, MEI4 has not been found to be associated with any human reproductive diseases. Here, we identified six compound heterozygous and homozygous MEI4 variants—namely, c.293C > T, p.(Ser98Leu), c.401C > G, p.(Pro134Arg), c.391C > G, p.(Pro131Ala), c.914A > T, p.(Tyr305Phe), c.908C > G, p.(Ala303Gly), and c.899A > T, p.(Gln300Leu)—in four independent families that were responsible for female infertility mainly characterized by preimplantation embryonic arrest. In vitro, we found that these variants reduced the interaction between MEI4 and DNA. In vivo, we generated a knock-in mouse model and demonstrated that female mice were infertile and were characterized by developmental defects during oogenesis. Our findings reveal the important roles of MEI4 in human reproduction and provide a new diagnostic marker for genetic counseling of clinical infertility patients. [ABSTRACT FROM AUTHOR]

Umbilical cord mesenchymal stem cell-derived extracellular vesicles (UC-EVs) are valuable in nanomedicine as natural nanocarriers, carrying information molecules from their parent cells and fusing with targeted cells. miRNA-126, specific to endothelial cells and derived from these vesicles, supports vascular integrity and angiogenesis and has protective effects in kidney diseases. Objective: This study investigates the delivery of miRNA-126 and anti-miRNA-126 via UC-EVs as natural nanocarriers for treating nephrotoxic injury in vitro. Method: The umbilical cord-derived mesenchymal stem cell and UC-EVs were characterized according to specific guidelines. Rat kidney proximal tubular epithelial cells (tubular cells) were exposed to nephrotoxic injury through of gentamicin and simultaneously treated with UC-EVs carrying miRNA-126 or anti-miRNA-126. Specific molecules that manage cell cycle progression, proliferation cell assays, and newly synthesized DNA and DNA damage markers were evaluated. Results: We observed significant increases in the expression of cell cycle markers, including PCNA, p53, and p21, indicating a positive cell cycle regulation with newly synthesized DNA via BrDU. The treatments reduced the expression of DNA damage marker, such as H2Ax, suggesting a lower rate of cellular damage. Conclusions: The UC-EVs, acting as natural nanocarriers of miRNA-126 and anti-miRNA-126, offer nephroprotective effects in vitro. Additionally, other components in UC-EVs, such as proteins, lipids, and various RNAs, might also contribute to these effects. [ABSTRACT FROM AUTHOR]

Caenorhabditis elegans is one of the most popular model organisms used to genetically dissect complex biological phenomena. One common technique used routinely in the C. elegans laboratory is the generation of strains carrying combinations of genetic mutations via classical genetic crosses. Here, we have developed a simple and convenient application to quickly identify useful genetic markers (phenotypical and fluorescent) and their chromosomal positions to aid in the development of genetic cross strategies. The user-friendly software identifies and prioritizes markers with the least genetic distance to a gene of interest, as well as displays the strain name, ease of scoring, nature of the marker (fluorescent transgene or phenotypic information), mating efficiency, and number of available alleles. In addition, recombination frequencies between the gene of interest and each genetic marker are calculated automatically. The application, called "SoMarker," is designed for both MacOS and Windows environments and is available to freely download and modify through open-source software. [ABSTRACT FROM AUTHOR]

Simple Summary: The OncoIndx® platform is an NGS assay designed and developed to identify critical mutations that help in therapeutic decision-making. The OncoIndx® panel targets major exons and a few selected introns of 1080 cancer-associated and actionable genes. The test analyzes complex biomarkers such as single nucleotide variants (SNVs), copy number alterations (CNAs), specific gene fusions, and many more. This study validates the overall sensitivity and efficiency of the test using standard references, clinical samples, and U.S. Food and Drug Administration (FDA)-approved cross-laboratory samples. The ultimate goal of this research is to benchmark the assay against the current guidelines and increase the reliability of the test, thus increasing the confidence of medical professionals for better personalized therapeutic intervention. Comprehensive next-generation sequencing (NGS) assays enable the identification of clinically relevant mutations, enhancing the capability for targeted therapeutic interventions. In addition, genomic alterations driving the oncogenic roadmap and leading to resistance mechanisms are reshaping precision oncology. We report the workflow and clinical and technical validation of the OncoIndx® NGS platform—a comprehensive genomic profiling (CGP)-based assay for pan-cancer investigation. We evaluated the concordance between the OncoIndx® test findings and clinically established hotspot detection using SeraSeq reference standards. OncoIndx is a hybridization capture-based NGS assay for the targeted deep sequencing of all exons and selected introns of 1080 cancer-related genes. We show the outcome in the form of tier I and tier II single nucleotide variants (SNVs), copy number alterations (CNAs), and specific gene fusions. OncoIndx® also informs genome-wide tumor mutational burden (TMB), microsatellite instability (MSI), homologous recombination deficiency (HRD), and genomic loss of heterozygosity (gLOH). A total of 63 samples were utilized for validation with reference standards, clinical samples, and orthogonal assessment for genomic alterations. In addition, 49 cross-laboratory samples were validated for microsatellite instability (MSI), and for the tumor mutation burden (TMB), 18 samples as reference standards, 6 cross-laboratory samples, and 29 TCGA samples were utilized. We show a maximum clinical sensitivity of 98% and a positive predictive value (PPV) of 100% for the clinically actionable genomic variants detected by the assay. In addition, we demonstrate analytical validation with the performance of the assay, limit of detection (LoD), precision, and orthogonal concordance for various types of SVs, CNAs, genomic rearrangements, and complex biomarkers like TMB, MSI, and HRD. The assay offers reliable genomic predictions with the high-precision detection of actionable variants, validated by established reference standards. [ABSTRACT FROM AUTHOR]

Simple Summary: In a retrospective study of 86 patients, we identified independent predictors of recurrence-free survival (RFS) and overall survival (OS) after the resection of liver metastases of uveal melanoma using a multivariable Cox model. A disease-free interval of ≤24 months and a chromosome 8q surgain were associated with worse survival. With these two parameters, we built a novel clinico-genetic score that defined three risk groups with distinct prognoses. This novel score identified patients with a high risk of relapse after surgery. These patients may benefit from neoadjuvant or adjuvant systemic therapy following complete surgical resection with the hope of improving survival outcomes. Surgical treatment of liver metastases of uveal melanoma (LMUM) could be proposed for selected patients. This retrospective study examined the prognostic significance of the genetic profiles of liver metastases after LMUM resection. A total of 86 patients treated with resection for LMUM, who underwent genetic analysis of liver metastasis, were included. A multivariable Cox model identified the independent predictors of recurrence-free survival (RFS) and overall survival (OS). The disease-free interval (DFI) and a chromosome 8q surgain (>3 copies) were independent predictors and categorized patients into three risk groups with distinct postoperative prognoses. For the low-, intermediate-, and high-risk scores of recurrence, the median RFS values were 15 months (95% CI: 10–22), 6 months (95% CI: 4–11), and 4 months (95% CI: 2–7), and the median OS values were 86 months (95% CI: 55-NR), 25 months (95% CI: 17–48), and 19 months (95% CI: 12–22), respectively. The predictive accuracy of this scoring system was demonstrated by a mean area under the curve (AUC(t)) of 0.77 (95% CI: 0.65–0.90) for RFS and 0.81 (95% CI: 0.70–0.92) for OS. This novel score, based on a DFI of ≤24 months combined with a chromosome 8q surgain, identifies patients at a high risk of early recurrence and could help clinicians to propose perioperative treatment. [ABSTRACT FROM AUTHOR]

Simple Summary: MicroRNAs (miRNAs) play a significant role as epigenetic regulators in cancer. IsomiRs are miRNA molecules that undergo small modifications during miRNA processing, which can affect their stability and their interaction with mRNA targets. While some isomiRs are linked to specific cancers, many, including those in the lung, remain understudied. To address this, small RNA sequencing data from lung adenocarcinoma (LUAD) and adult non-malignant lung (ANL) samples were analyzed to quantify isomiR expression. This analysis identified 16 A-to-I edited isomiRs, 213 5′ isomiRs, 128 3′ adenylated isomiRs, and 100 3′ uridylated isomiRs. A-to-I editing rates correlated with the expression of editing enzymes ADAR and ADARB1, both deregulated in LUAD. LUAD samples had lower A-to-I editing and 3′ adenylation rates compared to ANL. Machine learning models based on isomiR data effectively distinguished ANL from stage I/II LUAD samples, suggesting that isomiRs hold potential as cancer biomarkers. Background: MicroRNAs (miRNAs) modulate the expression of oncogenes and tumor suppressor genes, functioning as significant epigenetic regulators in cancer. IsomiRs are miRNA molecules that have undergone small modifications during miRNA processing. These modifications can alter an isomiR's binding stability with mRNA targets, and certain isomiRs have been implicated in the development of specific cancers. Still, the isomiRomes of many tissues, including the lung, have not been characterized; Methods: In this study, we analyzed small RNA sequencing data for three cohorts of lung adenocarcinoma (LUAD) and adult non-malignant lung (ANL) samples. Results: We quantified isomiR expression and found 16 A-to-I edited isomiRs expressed in multiple cohorts, as well as 213 5′ isomiRs, 128 3′ adenylated isomiRs, and 100 3′ uridylated isomiRs. Rates of A-to-I editing at editing hotspots correlated with mRNA expression of the editing enzymes ADAR and ADARB1, which were both observed to be deregulated in LUAD. LUAD samples displayed lower overall rates of A-to-I editing and 3′ adenylation than ANL samples. Support vector machines and random forest models were trained on one cohort to distinguish ANL and stage I/II LUAD samples using reads per million (RPM) and frequency data for different types of isomiRs. Models trained on A-to-I editing rates at editing hotspots displayed high accuracy when tested on the other two cohorts and compared favorably to classifiers trained on miRNA expression alone; Conclusions: We have identified isomiRs in the human lung and found that their expression differs between non-malignant and tumor tissues, suggesting they hold potential as cancer biomarkers. [ABSTRACT FROM AUTHOR]