Search Results (1,923)

Background/Objectives: Staphylococcus aureus (S. aureus) intramammary infection remains a major global dairy problem due to its contagious nature, its ability to persist and colonize teat/skin and mucosal niches, and the often-limited bacteriological cure achieved with antimicrobial therapy. Beyond udder health, it is relevant to public health because it can enter raw milk chains and serve as a reservoir for antimicrobial resistance determinants that may circulate between dairy animals and humans. Methods: We assessed S. aureus’ ecology in raw ewe milk from 75 sheep farms in Epirus (Greece) by sampling clinically healthy controls (group A) and clinical mastitis cases pre-treatment (group B), followed by resampling at the first post-withdrawal milking after penicillin/streptomycin treatment (group C1—therapeutic protocol 1), oxytetracycline treatment (group C2—therapeutic protocol 2), or enrofloxacin treatment (group C3—therapeutic protocol 3). Results: S. aureus detection was high and comparable across groups (A 23.0%, B 22.0–30.0%, C 20.0–22.0%), and paired analyses showed no significant pre–post shifts in detection/burden within therapeutic protocols (all p > 0.05). Nevertheless, persistence remained evident. The chromosomal gene mecA was detected in S. aureus strains in all groups, ranging from 13.6% in controls to 54.5% post-withdrawal in group C1, and was also present in the pre-treatment group. In paired sampling animals, mecA was mostly stable, with rare emergence or loss. Across antibiotic classes, within-animal resistance transitions were generally uncommon and non-significant (p > 0.05); β-lactam resistance was fully stable (p = 1.00). Descriptively, resistance to protein synthesis inhibitors tended to decline after therapy in protocol 1 and protocol 3, while protocol 3 showed post-treatment gains in fluoroquinolone resistance. By contrast, virulence-associated phenotype traits shifted after therapy: enterotoxigenicity increased post-withdrawal (especially in the C3 group), Staphylococcal Enterotoxin A (SEA) and Staphylococcal Enterotoxin B (SEB) appeared only post-therapy, Staphylococcal Enterotoxin D (SED) increased significantly in paired isolates (p = 0.002), and strong biofilm adherence increased (in C3, p = 1.5 × 10⁻⁵). Conclusions: The detection of S. aureus after therapy suggests that one possibility is that antimicrobial exposure may select for, or otherwise reshape, the residual intramammary population, rather than reliably eliminating it—an outcome that remains clinically relevant for udder health. Moreover, the persistence of mecA/methicillin-resistant Staphylococcus aureus (MRSA)-compatible profiles indicates that milk released to the food chain after withdrawal compliance may still harbor S. aureus with enhanced preservation capacity and significant food safety relevance. Full article

To improve Chrysanthemum tolerance to low temperatures and its adaptability to low autumn temperatures in Northeast China, we conducted the first genome-wide identification of the heat shock transcription factors (Hsfs) in Chrysanthemum indicum under low-temperature stress. Based on genome-wide analyses, we identified 14 CiHsf genes in Chrysanthemum indicum. Based on structural characteristics, the genes were grouped into two subfamilies, comprising 10 HsfA and four HsfB members, with no representatives of the HsfC subfamily detected. CiHsf1~CiHsf14 were located on seven chromosomes, and their promoter regions harbored numerous cis-acting elements associated with responses to low temperature, hormones, and light. Tissue-specific expression profiling revealed that seven CiHsf genes were predominantly expressed in roots, two in stems, three in leaves, and two in flowers. The analysis of low-temperature expression characteristics showed that CiHsf2, CiHsf5, CiHsf8, and CiHsf10 were significantly upregulated following cold acclimation, indicating that these genes may participate in the low-temperature response mechanism of Chrysanthemum indicum. Here, we demonstrated that transient transformation of Chrysanthemum indicum with 35S:CiHsf10 reduced reactive oxygen species (ROS) accumulation under low-temperature stress, which may contribute to enhanced cold tolerance. Full article

Autism spectrum disorder (ASD) is a neurodevelopmental condition that occurs in early childhood, characterized by a broad range of clinical manifestations and impairments in social communication. It represents one of the most prevalent neurodevelopmental disorders, affecting approximately 1% of the general population. The phenotypic heterogeneity of ASD arises from different genetic causes, including chromosomal abnormalities, copy number variants (CNVs), and single-nucleotide variants (SNVs), which may occur as de novo or inherited events. Moreover, the polygenic and multifactorial nature of ASD, together with epigenetic regulation and environmental influences, contributes substantially to its complex genetic architecture. Molecular diagnosis remains challenging and relies on multiple genomic approaches, such as array comparative genomic hybridization (array-CGH), whole-exome sequencing (WES), and whole-genome sequencing (WGS); however, the diagnostic yields of these methods remain limited, reflecting the complexity of ASD’s genetic architecture. Notably, ASD-associated genes converge on key biological pathways, particularly those involved in transcriptional regulation, chromatin remodeling, synaptic function, and neuronal signaling. These include well-established risk genes such as CHD8, ADNP, ARID1B, SHANK3, SYNGAP1, SCN2A, GRIN2B, FOXP1, and DYRK1A, among others. This review summarizes the current knowledge on the genetic basis of ASD, highlighting key aspects of its complex genetic architecture. By integrating evidence from major clinical and research databases, it provides a clearer understanding of the underlying mechanisms, supporting improved diagnosis and future research and therapeutic strategies. Full article

Ubiquitins (Ubs) play a crucial role in plant–pathogen interactions, particularly the RPL40 family, which is essential for protein synthesis. While Pinus massoniana is highly susceptible to pine wilt disease (PWD) caused by Bursaphelenchus xylophilus, the defense mechanisms mediated by RPL40s remain poorly understood. Here, we performed a genome-wide identification of the ubiquitin and ubiquitin-like gene family (PmUBQs) in P. massoniana. We identified 30 PmUBQ genes unevenly distributed across 11 chromosomes, which were classified into six subfamilies based on phylogenetic analysis. An analysis of promoter regions indicated that the PmUBQ genes were enriched with cis-acting elements associated with stress responses, hormone regulation, and development. Specifically, two group II members, PmRPL40-1 and PmRPL40-2, located on chromosomes 12 and 11, respectively, were identified and exhibited distinct responses to B. xylophilus infection in resistant and susceptible P. massoniana. PmRPL40-1 was significantly highly expressed in the 15 days post-inoculation, while PmRPL40-2 was downregulated on day 1 and then upregulated. Moreover, both genes showed peak divergence at 15 days post-inoculation; the expression levels of PmRPL40-1 and PmRPL40-2 in resistant P. massoniana were approximately 1.8- and 3.7-fold higher, respectively, than in susceptible P. massoniana. These patterns suggest that PmRPL40s might be involved in the rapid activation of defense responses and late-stage cell repair. Notably, transient overexpression of PmRPL40-1 in P. massoniana led to a significant 1.6-fold increase in the jasmonic acid (JA) content (p < 0.0001). These findings reveal the key PmUBQ genes and suggest that PmRPL40s contribute to PWD resistance potentially through the modulation of JA signaling, offering potential targets for molecular breeding in P. massoniana. Full article

Background: Improving grain yield in wheat remains a top priority, requiring integrated breeding and genetic strategies. This complexity poses a major challenge, driven by quantitative polygenic inheritance, environmental influence, and intricate genetic interactions. We investigated genetic factors and their interactions for agronomic and yield traits in two high-yielding winter wheat cultivars adapted to the US Southern Great Plains. Methods: A bi-parental mapping population consisting of 221 F₇ recombinant inbred lines (RIL) derived from ‘TAM 204’ and ‘Iba’ was evaluated for three years in 11 Texas environments. Both parents and RIL population were genotyped on Illumina NovaSeq 6000 and sequences were aligned to IWGSC RefSeq v1.0 using Bowtie2 for SNP calling. For QTL analyses, each trait was analyzed by individual environment, across multiple environments and mega-environments. Results: A total of 86 QTL were mapped for five traits and among them 32 were consistent in more than one environment or analysis. Among consistent QTL, four were pleiotropic to more than one agronomic or yield traits mapped on chromosomes 2B (57.18, 59.47 Mb) and 2D (29.34, 40.64 Mb). The consistent QTL on chromosome 2D (29.34 Mb) was pleiotropic to GYLD, DTH, TW, TKW and explained maximum phenotypic variation for all traits, representing photoperiod gene (Ppd-D1). Another QTL on chromosome 2D (40.64 Mb) was pleiotropic to GYLD and TW and based on the physical position comparisons it likely reflects a unique locus in Iba. The pleiotropic consistent QTL Qgyld.tamu.2B.59 from TAM 204 represents Ppd-B1 gene. Moreover, it is more likely that Qdth.tamu.5B.575 represents the Vrn-B1 gene in Iba. A total of 23 digenic epistatic interactions involved consistent QTL for all traits. Amongst these, epistatic interactions between the consistent QTL on 2B (57.18 Mb) and 2D (29.34 Mb) were observed for GYLD, DTH and TKW. Conclusions: Our findings revealed key allelic diversity and interaction effects in elite wheat cultivars, paving the way for marker development for identified pleiotropic loci and implementation in marker-assisted selection and recombination breeding. Full article

Background: Multidrug-resistant (MDR) Escherichia coli in intensive pig production represents a persistent animal health and One Health concern. Here, we integrated quantitative phenotypic susceptibility data with whole-genome sequencing (WGS) to characterize the resistome and its inferred genomic context (chromosomal vs. plasmid-predicted contigs and mobile genetic element (MGE)-proximal regions) in swine-associated MDR E. coli from Hungary. Methods: A total of 203 E. coli isolates from large-scale pig farms were tested by broth microdilution. Based on resistance-oriented screening from an extended-spectrum β-lactamase (ESBL)-screen-positive pool, 116 isolates were subjected to whole-genome sequencing (WGS) as a resistance-enriched subset. Resistance determinants were annotated using the Comprehensive Antibiotic Resistance Database (CARD). Results: Resistance-oriented screening indicated frequent β-lactamase activity and ESBL screening positivity (110/203 and 127/203 isolates, respectively), consistent with strong antimicrobial selection pressure in the source population. Across the full phenotypic panel, 78/203 isolates (38.4%) met the MDR definition (non-susceptible to ≥3 antimicrobial classes), with marked between-farm variation (p < 0.001) but no age-group effect (p = 0.75). Non-β-lactam minimum inhibitory concentration (MIC) distributions showed pronounced, site-dependent high-MIC “tails”, most notably for tetracyclines, trimethoprim–sulfamethoxazole, fluoroquinolones, and colistin. In the WGS cohort (n = 116), we detected 82 distinct resistance determinants (5433 total occurrences), featuring a conserved chromosomal backbone enriched for intrinsic multidrug resistance components and lipid A modification pathways, alongside common plasmid- and MGE-associated acquired ARG modules involving tetracycline (tetA/tetB), sulfonamide/trimethoprim (sul/dfrA), aminoglycoside-modifying enzymes, and phenicol determinants (floR/cat). High-priority mobile determinants were rare but present, including mcr-1 (3/116; plasmid-associated) and plasmid-mediated quinolone resistance qnrB5 (2/116). Conclusions: Importantly, mobility/context inferences are restricted to this ESBL-screen-enriched WGS subset. Swine-associated E. coli from Hungarian large-scale farms harbors complex resistance architectures shaped by co-selection of mobile ARG modules on top of a pervasive chromosomal resistance backbone. Mobility-aware surveillance and stewardship are warranted to mitigate dissemination risks at the animal–environment–human interface. Full article

Background: Sulfate transporters (SULTRs) are integral membrane proteins responsible for sulfate uptake, translocation, and plant adaptation to abiotic stresses. However, knowledge regarding the SULTR gene family in the economically important crop, Brassica rapa (Chinese cabbage), limited. The aim of this study is to conduct a genome-wide identification and functional characterization of BrSULTR genes and to explore their potential functions under abiotic stress. Methods: We identified 19 BrSULTR genes in the B. rapa genome by performing homology searches with Arabidopsis thaliana SULTR sequences as queries. Subsequent bioinformatics analysis included phylogenetic classification, chromosomal localization, gene structure, conserved motif dissection, cis-regulatory element prediction, and protein–protein interaction (PPI) network analysis. Tissue-specific expression profiles of BrSULTRs were assessed using publicly available transcriptome data. Furthermore, their expression dynamics under salt (150 mM NaCl) and low-temperature (4 °C) stress were investigated by integrating transcriptomic, proteomic, and qRT-PCR data. Results: The 19 identified BrSULTR members were phylogenetically categorized into four subfamilies and were mapped unevenly across seven chromosomes. Promoter analysis identified an array of cis-regulatory elements associated with development, hormone response, and stress response. Expression profiles revealed distinct tissue-specific patterns in roots, stems, leaves, flowers, and siliques. Under salt stress, BrSULTR13 was significantly upregulated, while BrSULTR9 and BrSULTR11 were significantly suppressed under low-temperature stress. PPI network projection indicated that the Arabidopsis homologs of BrSULTR5 may physically interact with stress-regulating enzymes such as APS and APR. Conclusions: Our work presents a comprehensive genomic and functional overview of the BrSULTR gene family in B. rapa. The results underscore the potential functions of BrSULTRs, highlighting their involvement in sulfate transport and abiotic stress responses. These insights establish valuable insights and a foundation for further research aiming at improving stress tolerance in B. rapa through the manipulation of sulfur metabolism pathways. Full article

Background and Clinical Significance: Burkitt lymphoma is an aggressive form of non-Hodgkin lymphoma of B-cell origin, caused by a MYC gene translocation on chromosome 8. There are three clinical subtypes, of which the sporadic subtype is most prevalent in the United States. Sporadic Burkitt lymphoma is diagnosed at a median age of 30 years and commonly manifests as bulky abdominal lesions, most often involving the ileocecal region. Pancreatic involvement is uncommon, and presentation as acute pancreatitis secondary to Burkitt lymphoma is exceedingly rare. Case Presentation: We present a case of a young male who presented with epigastric pain, nausea, and vomiting. He had a diffusely tender abdomen and elevated lipase levels. On imaging, he was found to have large retroperitoneal and intraperitoneal masses, contiguous with an enlarged pancreas. Burkitt lymphoma was confirmed upon biopsy of duodenal and gastric masses via endoscopic ultrasound. MRI brain and testicular ultrasound revealed unilateral fifth cranial nerve and bilateral testicular involvement, respectively. His course was complicated by bowel perforation requiring urgent surgery. However, he achieved complete remission with dose-dense systemic and intrathecal chemotherapy. Conclusions: This case highlights the diverse presentations of Burkitt’s lymphoma and a favorable prognosis with treatment. Clinicians should maintain a high index of suspicion for a malignant etiology of acute pancreatitis in patients without classic risk factors. Full article

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has long constituted a cornerstone of post-remission consolidation therapy for adults with high-risk B-cell acute lymphoblastic leukemia (B-ALL), offering potent graft-versus-leukemia activity at the expense of significant treatment-related toxicity (TRT) and non-relapse mortality (NRM). Over the past two decades, however, outcomes following allo-HSCT have improved substantially. This progress has been driven primarily by a marked reduction in NRM, translating into improved overall survival (OS), as consistently documented by large cooperative group analyses and single-center series. Advances in supportive care, infectious prophylaxis, donor selection, and graft-versus-host disease (GvHD) prevention have contributed substantially to this improvement. In parallel, transplant decision-making has been profoundly reshaped by refined disease biology-based risk stratification and the systematic evaluation of measurable residual disease (MRD). Moreover, the advent of highly effective immunotherapeutic approaches—including blinatumomab, inotuzumab ozogamicin, and chimeric antigen receptor (CAR) T-cell therapies—has enabled the achievement of deeper molecular remissions prior to transplantation, both in first and subsequent complete remissions. Taken together, these developments have shifted allo-HSCT from a widely applied strategy to a more individualized, risk-adapted therapeutic approach. This review examines how the indications, timing, and objectives of allo-HSCT are evolving in the contemporary treatment landscape of adult B-ALL, with particular emphasis on Philadelphia chromosome–negative, Philadelphia-like, and Philadelphia chromosome–positive disease subsets. Full article

Drought stress is a major abiotic factor limiting maize yield and stability. Although Jumonji C (JMJ) histone demethylases are known to regulate plant growth, development, and stress responses, their systematic characterization in maize has remained limited. Here, 27 ZmJMJ genes were identified in the maize genome through BLAST and conserved-domain analyses and classified into five subfamilies: JMJD6, KDM3/JHDM2, KDM4/JHDM3, KDM5/JARID1, and JmjC domain-only. Members within the same subfamily showed similar physicochemical properties, domain composition, and motif distribution, whereas clear divergence was observed among subfamilies. Chromosomal mapping revealed that ZmJMJ genes were unevenly distributed across nine chromosomes, with two interchromosomal homologous gene pairs, suggesting roles for segmental and/or whole-genome duplication in family expansion. Promoter analysis indicated widespread enrichment of elements related to light responsiveness, growth and development, and hormone and stress responses. Expression profiling showed that most ZmJMJ genes were highly expressed in leaves, while several displayed tissue specificity. Under drought stress, ZmJMJ17a, ZmJMJ17b, ZmJMJ28, and ZmJMJ32 were significantly induced, highlighting them as promising candidates for functional studies and molecular breeding for drought tolerance in maize. This study provides a foundation for elucidating the evolution and functions of the ZmJMJ family and identifies candidate genes for drought-related functional validation and molecular breeding. Full article

Background/Objectives: FcγRIIIA presents a single nucleotide polymorphism at position 158 (V/F), which affects its binding affinity to the fragment crystallizable (Fc) of antibodies (Abs). In the presence of immune complexes, FcγRIIIA can mediate the inflammatory signaling, severity of bone disease, and osteoclastogenic activity. Based on this functional relevance, we hypothesized that the FcγRIIIA F158V polymorphism may influence the clinical presentation of multiple myeloma (MM). Methods: FcγRIIIA F158V genotyping was performed on genomic DNA extracted from peripheral blood samples of patients affected by MM or asymptomatic conditions named MGUS and SMM. We compared the allele frequency of FcγRIIIA-F158V polymorphism in 72 MM, 42 MGUS and 31 SMM and evaluated the association with clinical features and occurrence of high-risk chromosome abnormalities. Targeted NGS mutation analysis was performed on genomic DNA isolated from purified CD138⁺ bone marrow plasma cells (BMPCs) of 41 patients, to evaluate the association between somatic mutations and the FcγRIIIA F158V genotype. Results: the FcγRIIIA-158 V/V homozygous genotype was associated with high-risk cytogenetics, anemia, high beta-2 microglobulin levels, and more than 10 osteolytic lesions. V/V homozygous genotype was significantly associated with at least one mutation in RAS pathway genes (N-RAS, K-RAS or B-RAF). In the immune microenvironment, patients carrying the V/V homozygous genotype had a higher percentage of CD14⁺CD16⁺⁺ non-conventional inflammatory monocytes than the V/F or FF genotype. Conclusions: Our study contributes to a better understanding of the interactions between genetic variants, tumor microenvironment, and therapeutic response in plasma cell dyscrasias, to identify molecular biomarkers for precision medicine in MM, MGUS and SMM. Full article

Background/Objectives: The Arabidopsis thaliana GDS1 (Growth, Development and Splicing 1) gene has recently been identified as a key regulator linking nitrate signaling to leaf senescence. However, a systematic analysis of the GDS1 gene family in maize (Zea mays L.) is lacking. This study aims to identify and characterize the ZmGDS1 gene family in maize, providing a foundation for functional studies on their roles in growth, development, and low-nitrogen-induced leaf senescence. Methods: Putative ZmGDS1 family members were identified by searching the maize B73 reference genome using BLASTP (version 2.11.0+) and HMMER (version 3.4), with the Arabidopsis GDS1 protein sequence as the query. Candidate sequences were verified for the presence of the conserved zf-CCCH domain using NCBI CD-Search and SMART. Phylogenetic relationships, gene structures, conserved motifs, chromosomal distribution, collinearity, and promoter cis elements were comprehensively analyzed using MEGA 11, TBtools (version 1.098), MEME (version 5.5.9), and PlantCARE. Phylogenetic trees were constructed using the maximum likelihood (ML) method with the LG+G+I model and 1000 bootstrap replicates. Results: Thirteen ZmGDS1 genes were identified, distributed unevenly across eight maize chromosomes. Phylogenetic analysis classified the ZmGDS1 proteins into four distinct groups (A–D), revealing a lineage-specific expansion in group D. While all members contained the conserved zf-CCCH domain, their motif compositions varied considerably; ZmGDS1.1 exhibited the most complex structure, whereas ZmGDS1.12 had the most simplified. Subcellular localization predictions indicated that most ZmGDS1 proteins are targeted to the nucleus, consistent with a potential role as transcription factors. Promoter analysis revealed an abundance of cis elements associated with light response, hormone signaling (methyl jasmonate, abscisic acid, auxin), and stress responses. Notably, phylogenetically related genes tended to share similar cis-element profiles. Conclusions: This genome-wide analysis provides the first characterization of the ZmGDS1 gene family in maize. The observed structural conservation and diversity, together with regulatory elements linked to senescence-associated signals, support the hypothesis that ZmGDS1 genes may contribute to leaf senescence, particularly under low-nitrogen conditions. These findings provide a basis for future functional validation studies. Full article

Sigma factors (SIGs) are nuclear-encoded regulators of chloroplast gene transcription. We conducted a genome-wide analysis in Brassica napus, identifying 23 SIG genes that were phylogenetically classified into six distinct subfamilies. Characterization of gene structure, conserved motifs, and chromosomal locations indicated family expansion primarily through segmental duplication under purifying selection. Promoter analysis identified cold-responsive elements enriched in BnSIG5A. Expression profiling showed that BnSIG5 subfamily members, particularly BnSIG5A, are strongly induced by cold stress. Analysis of Arabidopsis SIG5 mutants confirmed previously reported roles of AtSIG5 in cold tolerance. Heterologous expression in yeast, and the strong cold induction of BnSIG5A together with its chloroplast localization, suggest that BnSIG5A may play a conserved role, providing a foundation for future functional studies in B. napus. This work establishes a genomic framework for the SIG family in rapeseed and identifies BnSIG5A as a high-priority candidate for further investigation. Subcellular localization confirmed chloroplast targeting of BnSIG5A. Heterologous expression in yeast and analysis of Arabidopsis SIG5 mutants suggest conserved functions in cold tolerance, providing a foundation for future functional studies in B. napus. This work establishes a genomic framework for understanding SIG-mediated stress responses in rapeseed and identifies BnSIG5A as a promising candidate for further investigation. Full article

Mixograph properties represent important quantitative traits that are controlled by multiple genes and influenced by environmental factors. In this study, we conducted quantitative trait locus (QTL) mapping for key Mixograph paraments using a recombinant inbred line (RIL) population derived from a cross between Yangxiaomai and Zhongyou 9507. Based on a high-density genetic map, six stable QTLs were identified on chromosomes 1A, 1B, and 1D across four environments, with individual phenotypic variation explained, ranging from 2.26 to 28.70%. Among these, QTh.ahau-1A, QMt/QPa.ahau-1B, and QTw.ahau-1D.1 are potentially novel loci. Furthermore, four functional Kompetitive Allele-Specific PCR (KASP) markers were developed based on tightly linked SNPs and validated in 110 advanced breeding lines, confirming their significant association with the target traits and utility for marker-assisted selection (MAS). Additionally, six candidate genes were predicted, which encoded proteins such as a hydroxyproline-rich glycoprotein, a CCCH-type zinc finger protein, protease, kinase, a phosphoglucan water dikinase, and a TRP-like family protein. Collectively, these findings provide valuable genetic loci, functional molecular markers, and candidate gene resources for improving wheat processing quality through MAS-based breeding. Full article

Beef flavor is a trait difficult to evaluate since different senses (taste, touch, and smell) are involved in its perception. In the last 20 years, 102 Quantitative Trait Loci (QTLs), associated with the variability of different beef flavor notes, have been reported. These QTLs are spread on all chromosomes, including BTA X. In these QTL regions, 2509 genes are located and, among them, 594 are involved in the metabolic processes of lipids, proteins, and carbohydrates, the main meat components for the production of volatile substances responsible for flavor. Only 19 of these genes (ACSM2B, ACSM3, ACSM4, ACSM5, CHID1, DHCR7, EDEM3, GDE1, HEXB, IGF2, INS, NDUFAB1, PIGC, PNPLA2, PRDX6, SCNN1B, SIAE, SMG1, and UMOD) are also present in the QTL regions affecting pork flavor. The applied approach allowed us to strongly restrict the number of candidate genes to affect the variability of both beef and pork flavor. Full article