Search Results (5,958)

Background: This study presents the sequencing and analysis of mitochondrial DNA (mtDNA) genomes from nine early medieval horse remains excavated across archaeological sites in Silesia region in present day Poland. Methods: Using aDNA extraction protocols optimized for short fragments, combined with target enrichment and high-throughput sequencing, we reconstructed partial mtDNA sequences for seven of the specimens. Results: The authenticity of the aDNA was confirmed through damage pattern analysis. Phylogenetic reconstruction revealed that the specimens belonged to six distinct mtDNA lineages (B, D, E, G, L, and M), indicating a high level of mitochondrial diversity within medieval Silesian horse population. Conclusions: These findings highlight the extensive mtDNA variability among domestic horses, reflecting the diversity of their ancestral populations rather than modern breed differentiation. This research enhances our understanding of horse population structure in medieval Europe, emphasizing the genetic complexity present during this period. Full article

Background: Stenotrophomonas maltophilia is an increasingly important multidrug-resistant opportunistic pathogen frequently isolated from clinical, environmental, and plant-associated niches. Despite its medical relevance, the global population structure, species-complex boundaries, and genomic determinants of antimicrobial resistance (AMR) and ecological adaptation remain poorly resolved, partly due to inconsistent annotations and fragmented genomic datasets. Methods: Approximately 2400 genome assemblies annotated as Stenotrophomonas maltophilia were available in the NCBI Assembly database at the time of query. After pre-download filtering to exclude metagenome-assembled genomes and atypical lineages, 1750 isolate genomes were retrieved and subjected to stringent quality control (completeness ≥90%, contamination ≤5%, ≤500 contigs, N50 ≥ 10 kb, and ≤1% ambiguous bases), yielding a final curated dataset of 1518 high-quality genomes used for downstream analyses. Genomes were assessed using CheckM, annotated with Prokka, and compared using average nucleotide identity (ANI), pan-genome analysis, core-genome phylogenomics, and functional annotation. AMR genes, mobile genetic elements (MGEs), and metadata (source, host, and geographic origin) were integrated to assess lineage-specific genomic features and ecological distributions. Results: ANI-based clustering resolved the S. maltophilia complex into multiple distinct genomospecies and revealed extensive misidentification of publicly deposited genomes. The pan-genome was highly open, reflecting strong genomic plasticity driven by accessory gene acquisition. Core-genome phylogeny resolved well-supported clades associated with clinical, environmental, and plant-related niches. Resistome profiling showed widespread intrinsic MDR determinants, with certain lineages enriched for efflux pumps, β-lactamases, and trimethoprim–sulfamethoxazole resistance markers. MGE analysis identified lineage-specific integrative conjugative elements, prophages, and transposases that correlated with source and geographic distribution. Conclusions: This large-scale analysis provides the most comprehensive genomic overview of the S. maltophilia complex to date. Our findings clarify species boundaries, highlight substantial taxonomic misannotation in public databases, and reveal lineage-specific AMR and mobilome patterns linked to ecological and clinical origins. The curated dataset and evolutionary insights generated here establish a foundation for global genomic surveillance, epidemiological tracking, and future studies on the evolution of antimicrobial resistance in S. maltophilia. Full article

Background: Head and neck squamous cell carcinoma remains a highly aggressive malignancy with limited predictive biomarkers for prognosis and radiotherapy response. Increasing evidence indicates that pseudogenes are functionally active regulators of cancer biology, yet their clinical relevance in HNSCC is poorly defined. Methods: Using transcriptomic and clinical data from The Cancer Genome Atlas, we analyzed the expression and clinical significance of two pseudogenes, ANXA2P2 and PA2G4P4, in HNSCC. Associations with clinicopathological features, HPV status, tumor subtypes, survival, genomic instability, radiotherapy response, and immune landscape were assessed using bioinformatic tools. Results: Both pseudogenes were significantly upregulated in HNSCC compared to normal tissues. Higher expression levels correlated with adverse clinicopathological features, increased tumor proliferation and wound-healing capacity, and unfavorable TCGA molecular subtypes. High ANXA2P2 and PA2G4P4 expression was associated with reduced overall survival, while their combined low-expression signature identified patients with significantly improved overall and disease-free survival. Notably, lower expression of both pseudogenes was observed in patients responding to radiotherapy, whereas higher expression was linked to genomic instability parameters and enrichment of oncogenic pathways, including MYC, PI3K/AKT/mTOR, cell cycle regulation, and DNA repair. ANXA2P2 expression differed significantly by HPV status, showing reduced levels in HPV-positive tumors. Furthermore, pseudogene expression stratified distinct immune profiles, including immune subtypes, stromal and immune scores, and specific immune cell populations. Conclusions:ANXA2P2 and PA2G4P4 are clinically relevant pseudogenes associated with tumor aggressiveness, immune modulation, and radiotherapy response in HNSCC. These findings support their potential utility as prognostic and predictive biomarkers and provide a rationale for further functional validation in experimental models. Full article

Whole-genome sequencing is a powerful approach for exploring genomic diversity in livestock species. Chickens (Gallus gallus) are an important food source worldwide, and in Taiwan, poultry production contributes substantially to the livestock industry. Taiwan’s commercial red- and black-feathered country chickens dominate this category and play a crucial role in local poultry production. However, fundamental genomic information on their population structure remains limited. To address this gap, this study generated whole-genome sequencing data from red-feathered country chickens originating from four major breeding farms. Genetic diversity analyses revealed uniformly low genetic diversity across all farms. Runs of homozygosity (ROH) analyses indicated predominantly historical inbreeding, with farm-specific differences in recent inbreeding patterns. Population structure analyses revealed clear clustering of individuals according to farm origin, indicating distinct line structures among breeding farms. These results provide the first comprehensive genomic overview of Taiwan’s commercial red-feather country chickens and offer valuable reference information for future breeding strategies and the development of new lines. Full article

Mutations in TP53 inhibit p53 protective behaviors including cell cycle arrest, DNA damage repair protein recruitment, and apoptosis. The ubiquity of p53 in genome-stabilizing functions leads to an aberrant tumor microenvironment in TP53-mutated myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Profound immunosuppression mediated by myeloid-derived suppressor cells, the upregulation of cytokines and cell-surface receptors on leukemic cells, the suppression of native immune regulator cells, and metabolic aberrations in the bone marrow are features of the TP53-mutated AML/MDS marrow microenvironment. These localized changes in the bone marrow microenvironment (BMME) explain why traditional therapies for MDS/AML, including chemotherapeutics and hypomethylating agents, are not as effective in TP53-mutated myeloid neoplasms and demonstrate the dire need for new treatments in this patient population. The unique pathophysiology of TP53-mutated disease also provides new therapeutic approaches which are being studied, including intracellular targets (MDM2, p53), cell-surface protein biologics (immune checkpoint inhibitors, BiTE therapy, and antibody–drug conjugates), cell therapies (CAR-T, NK-cell), signal transduction pathways (Hedgehog, Wnt, NF-κB, CCRL2, and HIF-1α), and co-opted biologic pathways (cholesterol synthesis and glycolysis). In this review, we will discuss the pathophysiologic anomalies of the tumor microenvironment in TP53-mutant MDS/AML, the hypothesized mechanisms of chemoresistance it imparts, and how novel therapies are leveraging diverse therapeutic targets to address this critical area of need. Full article

Influenza A viruses exhibit broad host tropism, infecting multiple species including humans, avian species, and swine. Swine influenza virus (SIV), while primarily circulating in porcine populations, demonstrates zoonotic potential with sporadic human infections. In this investigation, we identified two H1N1 subtype swine influenza A virus strains designated A/swine/China/SD6591/2019(H1N1) (abbreviated SD6591) and A/swine/China/SD6592/2019(H1N1) (abbreviated SD6592) in Shandong Province, China. The GenBank accession numbers of the SD6591 viral gene segments are PV464931-PV464938, and the GenBank accession numbers corresponding to each of the eight SD6592 viral gene segments are PV464939-PV464946. Phylogenetic and recombination analyses suggest potential evolutionary differences between the isolates. SD6591 displayed a unique triple-reassortant genotype: comparative nucleotide homology assessments demonstrated that the PB2, PB1, NP, NA, HA, and NEP genes shared the highest similarity with classical swine-origin H1N1 viruses. In contrast, SD6592 maintained genomic conservation with previously characterized H1N1 swine strains, although neither of these two isolates exhibited significant intrasegmental recombination events. Through comprehensive sequence analysis of these H1N1 SIVs, this study provides preliminary insights into their evolutionary history and underscores the persistent risk of cross-species transmission at the human–swine interface. These findings establish an essential foundation for enhancing national SIV surveillance programs and informing evidence-based prevention strategies against emerging influenza threats. Full article

Leaf color mutants are commonly characterized by altered chlorophyll content and aberrant chloroplast development, making them valuable models for investigating photosynthetic mechanisms and chloroplast biogenesis. In this study, an albino mutant was isolated from a population of transgenic maize breeding lines. Genetic analysis indicated that the mutant phenotype is inherited in a Mendelian manner and is controlled by a single nuclear locus. This was supported by a χ² test performed on the T₂ generation, which confirmed a segregation ratio consistent with 3:1 (176:68, χ² = 1.07 < χ²_0.05 = 3.84, p > 0.05). Microscopic examination revealed the absence of normally developed chloroplasts in mutant cells. Further expression analysis of chloroplast genes via Northern blotting and quantitative real-time PCR (qRT-PCR) suggested that the mutation impairs the regulation of plastid-encoded polymerase (PEP)-dependent chloroplast gene expression. Notably, PCR-based co-segregation analysis indicated that the mutant phenotype is associated with the entire inserted vector sequence, rather than a point mutation or a small genomic deletion. In conclusion, this paper reports the isolation and phenotypic characterization of an etiolated mutant from a transgenic maize breeding population, including comparative ultrastructural analysis of chloroplasts, co-segregation validation, and chloroplast gene expression profiling. These results enhance our understanding of the physiological and molecular mechanisms underlying chlorophyll-deficient mutations in plants. Full article

Salmonella is a major foodborne pathogen, and its increasing antimicrobial resistance poses a significant public health challenge. In this study, we conducted a comprehensive genomic epidemiological investigation of Salmonella isolates recovered from meat products across multiple provinces in China. A total of 141 isolates were collected and subjected to antimicrobial susceptibility testing and whole-genome sequencing. Core genome MLST and hierarchical clustering (HierCC) were performed using EnteroBase, while SNP phylogeny and phylodynamic analyses were conducted to characterize the evolutionary dynamics of Salmonella populations. The predominant serovars were Enteritidis and Infantis, with a high proportion of multidrug-resistant isolates. Potentially transferable plasmids carrying ARGs, such as bla_CTX-M, qnrS1, sul2, and mcr-1.1, were frequently detected, indicating a risk of horizontal transfer during transmission. Genomic epidemiological investigation of our sequenced strains and their associated cgMLST HierCC clusters revealed both persistent Salmonella lineages, such as Enteritidis HC50-87 and Agona HC20-419, and emerging China-specific lineages, including Enteritidis HC20-10145 and Typhimurium HC50-2304. The estimated divergence times of these lineages mostly dated to the late mid-20th century, coinciding with the intensification of poultry farming in China. These findings highlight the power of genomic epidemiology in uncovering antimicrobial resistance patterns and transmission dynamics, underscoring the need for strengthened Salmonella surveillance. Full article

Background/Objectives: Modifiable lifestyle factors, particularly diet, are important for preventing type 2 diabetes (T2D); however, the evidence regarding this from prospective studies is limited in the Asian population. We therefore evaluated whether a diet-inclusive healthy lifestyle score (HLS) predicts incident T2D in a community-based cohort. Methods: We analyzed 7185 T2D-free adults from the KoGES Ansan–Ansung cohort, constructing the HLS (range: 0–5) based on five lifestyle factors: non-smoking, ≥30 min/day of moderate-to-vigorous physical activity, low-risk alcohol consumption (≤40 g/day for men; ≤20 g/day for women), BMI of 18.5–24.9 kg/m², and a healthy diet, defined as a healthy plant-based diet index within the top 40th percentile. Cox proportional hazards regression models were employed to examine the association between HLS and incident T2D risk. Results: During a median follow-up of 17.5 years, 1223 cases of T2D were identified. Compared to individuals with a score of 0 or 1, those with a score of 5 had a 56% lower risk of T2D after adjustment for potential confounders (HR: 0.44, 95% CI: 0.32–0.62), and these associations remained consistent across subgroups stratified by age, sex, family history of T2D, hypertension, and residential area. However, the association was stronger among non-users of anti-diabetic medication than among users. Conclusions: Adherence to a healthier lifestyle, as indicated by a higher HLS, was significantly associated with a reduced risk of developing T2D among Korean adults. These findings underscore the importance of promoting integrated healthy lifestyle behaviors to prevent T2D. Full article

Leaves are the primary photosynthetic organs, and alterations in leaf color can affect photosynthesis and plant biomass. In an EMS-mutagenized SN9816 population, we identified two white-striped mutants, ws21-1 and ws21-2. Both mutants showed severely reduced pigment content, defective chloroplasts, and elevated reactive oxygen species. The ws21-2 allele caused a near-complete albino phenotype, while ws21-1 resulted in milder striping. Genetic mapping and cloning identified causal mutations in OsRNRS1, encoding the small subunit of ribonucleotide reductase. The G583R (ws21-1) and Y365F (ws21-2) mutations likely impair enzyme activity, disrupting the dNTP pool for plastid genome replication and causing aberrant chloroplast development. Correspondingly, the expression of genes for chlorophyll synthesis, photosynthesis, and ROS metabolism was altered. Our findings directly link nuclear-encoded nucleotide metabolism to chloroplast biogenesis and demonstrate that dNTP homeostasis is critical for maintaining photosynthetic capacity and redox balance in plants. Full article

The Body Mass Index (BMI), integrating body weight and length, is a widely used metric for obesity assessment in humans. As pigs serve as crucial biomedical models, the application of BMI in swine and its genetic basis remain poorly explored. This study aimed to investigate the genetic architecture of pig BMI and compare two carcass-based BMI metrics (BMI-S and BMI-O) for breeding applicability. A total of 439 Landrace × Yorkshire crossbred pigs were genotyped with a 50 K SNP chip; heritability was estimated via a mixed linear model, and genome-wide association study (GWAS) was performed using the BLINK model. BMI-S and BMI-O exhibited moderate-to-high heritability of 0.55 and 0.47, respectively, with 17 genome-wide significant SNPs detected—including the top associated SNP rs81382440 on chromosome 4 and rs80898583 on chromosome 7. Key candidate genes (GPHN, ADAM33, KCNH8, PDCD4) and 5 SNP-trait associations validated in PigQTLdb were linked to lipid/energy metabolism and muscle development. Carcass-based BMI improved phenotypic accuracy, and our findings provide core genetic markers and a theoretical basis for molecular breeding of pig body conformation and lipid deposition traits. Full article

The wet gluten content (WGC) of wheat is a key indicator of wheat-processing quality, and its genetic basis is extremely critical in breeding. This study evaluated the WGC of 207 wheat accessions under three growing seasons from a natural population. Nine quantitative trait loci (QTLs) explained 7.61–15.18% of phenotypic variation in a genome-wide association study (GWAS) using a 660K SNP array. Among them, qWGC6B.2 on chromosome 6BL was consistently detected across multiple environments, accounting for 10.08–12.27% of variation. Incorporating grain transcriptome data led to the identification of TaWGC6B.1 (TraesCS6B02G386700), which is highly expressed in developing endosperm and strongly correlated with WGC. A competitive allele specific PCR (KASP) marker development and validation indicated that the Whaas68366_GG allele significantly enhanced gene expression and WGC. This study identified key genes and molecular markers, providing theoretical and technical support for WGC genetic improvement in wheat (Triticum aestivum L.). Full article

Background/Objectives: This review integrates evolutionary, metabolic, genetic, and nutritional perspectives to explain how sterol-derived vitamin D pathways shape human physiology and inter-individual variability in vitamin D status. Methods: The literature on sterol and vitamin D metabolism across animals, plants, fungi, and algae was synthesized with data from metabolomics databases, genome-wide association studies, RNA-seq resources (including GTEx), structural biology, and functional genomics. Results: Vitamin D₂ and vitamin D₃ likely emerged early in evolution as non-enzymatic photochemical sterol derivatives and were later co-opted into a tightly regulated endocrine system in vertebrates. In humans, cytochrome P450 enzymes coordinate vitamin D activation and degradation and intersect with oxysterol production, thereby linking vitamin D signaling to cholesterol and bile acid metabolism. Tissue-specific gene expression and regulatory genetic variants, particularly in the genes DHCR7, CYP2R1, CYP27B1, and CYP27A1, contribute to population-level differences in vitamin D status and metabolic outcomes. Structural analyses reveal selective, high-affinity binding of 1,25-dihydroxyvitamin D₃ to VDR, contrasted with broader, lower-affinity ligand recognition by LXRs. Dietary patterns modulate nuclear receptor signaling through distinct yet convergent ligand sources, including cholesterol-derived oxysterols, oxidized phytosterols, and vitamin D₂ versus vitamin D₃. Conclusions: Sterol and vitamin D metabolism constitute an evolutionarily conserved, adaptable network shaped by UV exposure, enzymatic control, genetic variation, and diet. This framework explains inter-individual variability in vitamin D biology and illustrates how evolutionary and dietary modulation of sterol-derived ligands confers functional flexibility to nuclear receptor signaling in human health. Full article

Procypris rabaudi, a member of the Cyprinidae family and genus Procypris, has been designated as a national second-class protected wildlife species in China due to a significant decline in its wild populations. Understanding its genomic characteristics and mitochondrial genome structure is crucial for germplasm conservation and systematic classification. In this study, we utilized high-throughput sequencing to investigate the genome of P. rabaudi. The genome size was 1.5 Gb, with a heterozygosity rate of 0.44% and 61.47% of repetitive sequences. We identified 1,151,980 simple sequence repeats (SSRs), with mononucleotide repeats being the most abundant at 55.34%. The complete mitochondrial genome was assembled with 16,595 bp length. A phylogenetic tree constructed from 13 mitochondrial protein-coding genes indicated that genus Procypris was most closely related to genus Luciocyprinus and formed a monophyletic group with Cyprinus, Carassioides, and Carassius. Pairwise Sequentially Markovian Coalescent (PSMC) analysis revealed a rapid population expansion prior to the Last Interglacial Period, followed by a decline after reaching its peak during Last Glacial Period. Notably, P. rabaudi exhibited a two-peak demographic pattern during both the Last Glacial Period. These genomic data provide valuable resources for the conservation of P. rabaudi germplasm and for future studies on cyprinid classification and evolution. Full article

Sonneratia alba Sm. and Sonneratia caseolaris (L.) Engl. are two ecologically important components of mangrove communities in Thailand. However, their population genetic patterns in Thailand remain poorly understood. Here, we assessed the genetic diversity and population structure of 107 S. alba and 131 S. caseolaris individuals sampled across their full coastal range in Thailand using single-nucleotide polymorphism (SNP) markers. Population structure analyses consistently revealed strong genetic subdivision associated with geography: S. alba formed three clusters (including one admixed group), whereas S. caseolaris formed two clusters. In both species, populations were clearly separated between the Andaman Sea and the Gulf of Thailand, reflecting the isolating influence of the Malay Peninsula. Genetic differentiation between clusters was high (F_ST = 0.364 in S. alba and 0.321 in S. caseolaris). Genetic differentiation increased with geographic distance in S. caseolaris, whereas no such relationship was detected in S. alba. Both species exhibited low levels of genetic diversity (H_o = 0.173; H_e = 0.223 in S. alba and H_o = 0.290; H_e = 0.406 in S. caseolaris). Together, these results reveal pronounced spatial genetic structure and limited evolutionary connectivity between coastal regions, providing genome-wide insights into mangrove population differentiation with important implications for conservation and restoration. Full article