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20 pages, 1315 KiB  
Article
Identification and Analysis of Melon (Cucumis melo L.) SHMT Gene Family Members and Their Functional Studies on Tolerance to Low-Temperature Stress
by Yanmin Liu, Dandan He, Yizhou Wu, Kangqi Zhao, Changyi Yang, Yulu Zhong, Liuyang Yang, Haiyue Niu and Sushuang Liu
Agronomy 2025, 15(1), 203; https://doi.org/10.3390/agronomy15010203 - 15 Jan 2025
Abstract
Melon (Cucumis melo L.) is a significant cash crop globally and is cherished for its sweet and flavorful fruits, as well as its high nutritional values. However, its yield and quality are limited by various factors, including drought, salinity, and low temperatures. [...] Read more.
Melon (Cucumis melo L.) is a significant cash crop globally and is cherished for its sweet and flavorful fruits, as well as its high nutritional values. However, its yield and quality are limited by various factors, including drought, salinity, and low temperatures. Low temperatures are one of the primary factors influencing the growth and development of melons, diminishing the viability, germination, and growth rate of melon seeds. Concurrently, low temperatures also reduce light absorption efficiency and fruit yields, thereby affecting melon growth and development. Serine hydroxymethyltransferase (SHMT), a conserved phosphopyridoxal-dependent enzyme, plays a crucial role in plant resistance to abiotic stressors. In this study, eight CmSHMT family genes were identified from the melon genome. We predicted their chromosomal locations, physicochemical properties, gene structures, evolutionary relationships, conserved motifs, cis-acting elements of promoters, and tissue-specific expression patterns. The expression levels of CmSHMT family genes in response to low-temperature stress was then analyzd using qRT-PCR. The phylogenetic results indicated that these CmSHMT genes were classified into four subfamilies and were unevenly distributed across five chromosomes, with relatively high conservation among them. Furthermore, our investigation revealed that the promoter regions of the CmSHMT family genes contain many cis-acting elements related to phytohormones, growth, and various stress responses. The relative expression levels of CmSHMT3, CmSHMT4, CmSHMT6, and CmSHMT7 were higher under low-temperature stress compared to the control group. Notably, the promoter region of CmSHMT3 contains cis-acting elements associated with low-temperature response (LTR) and abscisic acid response (ABRE). It is suggested that the mechanism through which CmSHMT3 responds to low-temperature stress treatments may be associated with hormonal regulation. These findings provide a foundation for the further exploration of CmSHMT family genes in melon and their functional roles in response to low-temperature stress, and they provide a theoretical basis for the targeted breeding of superior melon varieties with enhanced tolerance to low temperatures. Full article
18 pages, 4946 KiB  
Article
Identifying a Biocontrol Bacterium with Disease-Prevention Potential and Employing It as a Powerful Biocontrol Agent Against Fusarium oxysporum
by Qi Wang, Zhenshu Sun, Tiantian Li, Tiantian Fan, Ziqi Zhou, Jiayin Liu, Xiuling Chen and Aoxue Wang
Int. J. Mol. Sci. 2025, 26(2), 700; https://doi.org/10.3390/ijms26020700 - 15 Jan 2025
Abstract
Biocontrol microbes are environment friendly and safe for humans and animals. To seek biocontrol microbes effective in suppressing Fusarium oxysporum is important for tomato production. F. oxysporum is a soil-borne pathogen capable of causing wilt in numerous plant species. Therefore, we found a [...] Read more.
Biocontrol microbes are environment friendly and safe for humans and animals. To seek biocontrol microbes effective in suppressing Fusarium oxysporum is important for tomato production. F. oxysporum is a soil-borne pathogen capable of causing wilt in numerous plant species. Therefore, we found a biocontrol bacterium with an excellent control effect from the rhizosphere soil of plant roots. In this work, we focus on two parts of work. The first part is the identification and genomic analysis of the biocontrol bacterium Y-4; the second part is the control efficiency of strain Y-4 on F. oxysporum. For this study, we identified strain Y-4 as Bacillus velezensis. It is an aerobic Gram-positive bacterium that can secrete a variety of extracellular enzymes and siderophores. Strain Y-4 also contains a large number of disease-resistant genes and a gene cluster that forms antibacterial substances. In addition, we found that it significantly inhibited the reproduction of F. oxysporum in a culture dish. In the indoor control effect test, after treatment with strain Y-4 suspension, the disease index of tomato plants decreased significantly. Furthermore, the control efficiency of the plants was 71.88%. At the same time, Y-4 bacterial suspension induced an increase in POD and SOD enzyme activities in tomato leaves, resulting in increased plant resistance. Taken together, strain Y-4 proves to be an effective means of controlling F. oxysporum in tomatoes. Full article
(This article belongs to the Section Molecular Microbiology)
17 pages, 2565 KiB  
Article
Identification of Co-Expression Modules of Cotton Plant Height-Related Genes Based on Weighted Gene Co-Expression Network Analysis
by Qian Huang, Li Liu, Hang Li, Xuwen Wang, Aijun Si, Liangrong He and Yu Yu
Agronomy 2025, 15(1), 196; https://doi.org/10.3390/agronomy15010196 - 15 Jan 2025
Abstract
Plant height (PH) is a vital agronomic trait that significantly affects cotton yield and facilitates mechanized harvesting. Gaining insights into the genetic regulatory mechanisms governing plant height is fundamental to advancing cotton breeding. In this study, cotton plants were treated with varying concentrations [...] Read more.
Plant height (PH) is a vital agronomic trait that significantly affects cotton yield and facilitates mechanized harvesting. Gaining insights into the genetic regulatory mechanisms governing plant height is fundamental to advancing cotton breeding. In this study, cotton plants were treated with varying concentrations of mepiquat chloride, resulting in significant differences in plant height compared to the control group. Transcriptome data from 18 treated cotton stem tissue samples were analyzed using Weighted Gene Co-expression Network Analysis (WGCNA), leading to the identification of 21 gene co-expression modules. Of these, eight modules exhibited positive correlations, while 13 modules showed negative correlations with plant height. A co-expression network comprising 20,409 valid genes was constructed and visualized using Cytoscape 3.9.1. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses indicated that these modules are associated with biologically significant pathways, including oxidoreductase activity, transcriptional regulator activity, catalytic activity, and phosphate hydrolase activity. Further analysis of gene connectivity within these modules identified 10 core genes (Gohir.D03G105600, Gohir.A03G060400, Gohir.A05G333400, Gohir.D09G243300, Gohir.D12G213500, Gohir.A04G065185, Gohir.A04G039105, Gohir.D08G127760, Gohir.A09G103348, and Gohir.A04G039120) and enabled the establishment of a gene interaction regulation network. Functional predictions suggest that these candidate genes may play key roles in the regulation of cotton plant height. This study offers theoretical insights into the molecular mechanisms underlying cotton plant height and provides valuable references for breeding new cotton varieties with optimized plant heights. Full article
(This article belongs to the Special Issue Advances in Environmental Stress Biology: From Omics Approaches)
16 pages, 9111 KiB  
Article
Identification of the Highly Polymorphic Prion Protein Gene (PRNP) in Frogs (Rana dybowskii)
by Chang-Su Han, Sae-Young Won, Sang-Hun Park and Yong-Chan Kim
Animals 2025, 15(2), 220; https://doi.org/10.3390/ani15020220 - 15 Jan 2025
Abstract
Prion diseases are fatal neurodegenerative diseases that can be transmitted by infectious protein particles, PrPScs, encoded by the endogenous prion protein gene (PRNP). The origin of prion seeds is unclear, especially in non-human hosts, and this identification is pivotal [...] Read more.
Prion diseases are fatal neurodegenerative diseases that can be transmitted by infectious protein particles, PrPScs, encoded by the endogenous prion protein gene (PRNP). The origin of prion seeds is unclear, especially in non-human hosts, and this identification is pivotal to preventing the spread of prion diseases from host animals. Recently, an abnormally high amyloid propensity in prion proteins (PrPs) was found in a frog, of which the genetic variations in the PRNP gene have not been investigated. In this study, genetic polymorphisms in the PRNP gene were investigated in 194 Dybowski’s frogs using polymerase chain reaction (PCR) and amplicon sequencing. We carried out in silico analyses to predict functional alterations according to non-synonymous single nucleotide polymorphisms (SNPs) using PolyPhen-2, PANTHER, SIFT, and MutPred2. We used ClustalW2 and MEGA X to compare frog PRNP and PrP sequences with those of prion-related animals. To evaluate the impact of the SNPs on protein aggregation propensity and 3D structure, we utilized AMYCO and ColabFold. We identified 34 novel genetic polymorphisms including 6 non-synonymous SNPs in the frog PRNP gene. The hydrogen bond length varied at codons 143 and 207 according to non-synonymous SNPs, even if the electrostatic potential was not changed. In silico analysis predicted S143N to increase the aggregation propensity, and W6L, C8Y, R211W, and L241F had damaging effects on frog PrPs. The PRNP and PrP sequences of frogs showed low homology with those of prion-related mammals. To the best of our knowledge, this study was the first to discover genetic polymorphisms in the PRNP gene in amphibians. Full article
(This article belongs to the Special Issue Prion Diseases in Animals)
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Figure 1

Figure 1
<p>Identification of 34 novel single nucleotide polymorphisms (SNPs) of the frog prion protein gene (<span class="html-italic">PRNP</span>) found in this study. (<b>A</b>) The diagram describes the frog <span class="html-italic">PRNP</span> gene. In exon 2, the open reading frame (ORF) is represented by the black box. The white boxes depict non-coding exons. On the black box, the SNPs shown above are synonymous SNPs, while the SNPs shown below (marked with an asterisk) are non-synonymous. (<b>B</b>) Electropherograms describe the 34 novel SNPs discovered in the frog <span class="html-italic">PRNP</span> gene. Non-synonymous SNPs are indicated with an asterisk. The peaks in the box indicate each base of DNA sequence as follows: green: adenine; black: guanine; blue: cytosine; red: thymine. The red arrows indicate the locations of SNP sites. M/M: major allele homozygote; M/m: heterozygote; m/m: minor allele homozygote.</p>
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<p>The linkage disequilibrium (LD) block structure consisting of 34 SNPs located in the frog <span class="html-italic">PRNP</span> gene. The coefficient of the LD (r<sup>2</sup> value) between the SNPs was calculated by HaploView Ver. 4.2 software. The LD color scale ranges from white to black, with an increasing color intensity corresponding to higher r² values.</p>
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<p>The analysis of the hydrogen bond alterations in the frog prion protein (PrP) according to 6 non-synonymous SNPs was evaluated using Swiss-Pdb Viewer Ver. 4.1.0 software. (<b>A</b>) The 3D structure of frog PrP with Trp6 and Leu6 alleles. (<b>B</b>) The 3D structure of frog PrP with Cys8 and Tyr8 alleles. (<b>C</b>) The 3D structure of frog PrP with Ser143 and Asn143 alleles. (<b>D</b>) The 3D structure of frog PrP with Thr207 and Ser207 alleles. (<b>E</b>) The 3D structure of frog PrP with Arg211 and Trp211 alleles. (<b>F</b>) The 3D structure of frog PrP with Leu241 and Phe241 alleles. The red box indicates the functional groups of the target amino acid. The green and gray dotted lines indicate hydrogen bonds. The green and gray numbers indicate the length of the hydrogen bond. The orange arrow indicates the region where the hydrogen bond length changed.</p>
Full article ">Figure 4
<p>The electrostatic potential prediction of frog PrP according to six non-synonymous SNPs. (<b>A</b>) The electrostatic potential of frog PrP with Trp6 and Leu6 alleles. (<b>B</b>) The electrostatic potential of frog PrP with Cys8 and Tyr8 alleles. (<b>C</b>) The electrostatic potential of frog PrP with Ser143 and Asn143 alleles. (<b>D</b>) The electrostatic potential of frog PrP with Thr207 and Ser207 alleles. (<b>E</b>) The electrostatic potential of frog PrP with Arg211 and Trp211 alleles. (<b>F</b>) The electrostatic potential of frog PrP with Leu241 and Phe241 alleles. The color of the molecular surface indicates the electrostatic potential: blue: positive potential; red: negative potential.</p>
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13 pages, 2538 KiB  
Article
Integrative Analysis of Radiation-Induced Senescence-Associated Secretory Phenotype Factors in Kidney Cancer Progression
by Shubhankar Suman
Genes 2025, 16(1), 85; https://doi.org/10.3390/genes16010085 - 15 Jan 2025
Viewed by 100
Abstract
Background: Ionizing radiation (IR) is a well-known inducer of cellular senescence and the senescence-associated secretory phenotype (SASP). SASP factors play dual roles in cancer, either promoting or inhibiting its development. This study investigates IR-induced SASP factors specifically secreted by renal cortical epithelial (RCE) [...] Read more.
Background: Ionizing radiation (IR) is a well-known inducer of cellular senescence and the senescence-associated secretory phenotype (SASP). SASP factors play dual roles in cancer, either promoting or inhibiting its development. This study investigates IR-induced SASP factors specifically secreted by renal cortical epithelial (RCE) cells and their role in promoting renal cell carcinoma (RCC) progression. Methods: Proteomic data from the SASP Atlas were analyzed to identify IR-induced factors unique to RCE cells, with subsequent evaluations performed at both the gene and protein levels. Thirty-seven proteins were identified as exclusively upregulated and secreted by senescent RCE cells. Gene expression analysis of these RCE-specific SASP factors was conducted using the Gene Expression database of Normal and Tumor tissues (GENT2) and The Cancer Genome Atlas (TCGA). To assess their prognostic relevance in RCC, the corresponding proteins were further analyzed using the Human Protein Atlas (HPA), emphasizing the relationship between SASP factor expression and RCC progression. Results: ALDH18A1 and ASPH emerged as key RCE-specific SASP factors with significant upregulation at both the gene and protein levels (Log2 ratio > 1.15, p < 0.05). These proteins are implicated in pro-cancer activities and are strongly associated with poor prognostic outcomes in RCC. Their critical roles in RCC progression underscore their potential as promising therapeutic targets for the prevention and treatment of the disease. Conclusions: This study provides novel insights into the role of IR-induced SASP in renal carcinogenesis, marking the first identification of ALDH18A1 and ASPH as specific secreted proteins associated with tumor progression in RCC. This study suggests that ALDH18A1 and ASPH hold promise as early biomarkers for RCC and as therapeutic targets for disease prevention and treatment. Full article
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Figure 1
<p>Integrative data-mining approach for the identification of the functional role of the IR-induced senescent renal cortical epithelial (RCE) cell-specific SASP factors in renal cancer development. Our integrative strategy involved SASP Atlas data mining to identify IR-induced RCE cell-specific upregulated SASP factors, followed by comparison of SASP-encoding gene expression patterns between normal and renal cancer tissues and evaluation of IR-induced SASP genes and proteins in parallel to renal cancer prognosis to identify its functional role in renal cancer development. Gene–protein expression and their prognostic value at different stages of renal cancer was conducted using the Human Protein Atlas and GENT2 databases.</p>
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<p>Identification of IR-induced SASP secretome specific to RCE cells (RCE) in SASP Atlas database. Log2 ratios of soluble SASP protein levels from 10 Gy IR-induced senescent cells vs. control cells were obtained for IMR-90 fibroblast (595 differentially expressed proteins from culture media) and RCE cells (830 differentially expressed proteins from culture media). A total of 517 IR-upregulated soluble SASP factors (proteins) from IMR-90 fibroblast cells were compared with 49 IR-upregulated soluble SASP factors (proteins) from RCE cells. Finally, a total of 37 RCE cell-specific IR-induced soluble SASP factors with Log2 ratio &gt;1.15 with <span class="html-italic">p</span> &lt; 0.05 were identified and listed.</p>
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<p>Status of IR-induced RCE cell SASP-factor-encoding genes in renal cancer. A grouping of 14 upregulated (Log2 ratio &gt; 1.15 with <span class="html-italic">p</span> &lt; 0.05), 13 unchanged, and 10 downregulated (Log2 ratio &lt; −1.15 with <span class="html-italic">p</span> &lt; 0.05) RCE cell-specific SASP genes according to their expression pattens in human renal cancer as reported in the GENT2 database.</p>
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<p>Analysis of IR-altered RCE-cell specific SASP genes in relation to renal cancer stage, analyzed using the GENT2 database. (<b>A</b>) <span class="html-italic">ALDH18A1</span> expression levels, where statistical analysis revealed significance with <span class="html-italic">p</span>-values of 0.038 and 0.021 across different cancer stages. (<b>B</b>) <span class="html-italic">ASPH</span> expression levels, where statistical analysis revealed significance with <span class="html-italic">p</span>-values of 0.033, 0.015, and 0.050 across different stages of renal cancer (I–IV).</p>
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<p>Expression of <span class="html-italic">ALDH18A1</span> and <span class="html-italic">ASPH</span> in Clear Cell Carcinoma (CCC) and Papillary Cell Carcinoma (PCC) based on RNA-seq data from TCGA. (<b>A</b>) RNA expression (TPM) in individual CCC patients. (<b>B</b>) RNA expression (TPM) in individual PCC patients. (<b>C</b>) Percentage of tumors with RNA expression above the mean TPM value from all tumors of each respective group.</p>
Full article ">Figure 6
<p>Schematic representation of the impact of IR-induced senescence and senescence-associated secretory phenotype (SASP) in renal cortical epithelial (RCE) cells. IR exposure triggers senescence in RCE, characterized by the secretion of SASP factors. These factors exhibit dual roles: “highly favorable” SASP factors contribute to beneficial outcomes such as tissue repair and immune modulation, while “highly unfavorable” SASP factors promote renal cancer progression and recurrence. Neutralization/inhibition of unfavorable SASP factors using monoclonal antibodies (mAbs) or specific inhibitors could potentially enhance therapeutic efficacy and reduce the risk of renal cancer recurrence.</p>
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14 pages, 1691 KiB  
Article
Biofilm Formation, Modulation, and Transcriptomic Regulation Under Stress Conditions in Halomicronema sp.
by Marina Caldara, Henk Bolhuis, Marta Marmiroli and Nelson Marmiroli
Int. J. Mol. Sci. 2025, 26(2), 673; https://doi.org/10.3390/ijms26020673 - 15 Jan 2025
Viewed by 205
Abstract
In nature, bacteria often form heterogeneous communities enclosed in a complex matrix known as biofilms. This extracellular matrix, produced by the microorganisms themselves, serves as the first barrier between the cells and the environment. It is composed mainly of water, extracellular polymeric substances [...] Read more.
In nature, bacteria often form heterogeneous communities enclosed in a complex matrix known as biofilms. This extracellular matrix, produced by the microorganisms themselves, serves as the first barrier between the cells and the environment. It is composed mainly of water, extracellular polymeric substances (EPS), lipids, proteins, and DNA. Cyanobacteria form biofilms and have unique characteristics such as oxygenic photosynthesis, nitrogen fixation, excellent adaptability to various abiotic stress conditions, and the ability to secrete a variety of metabolites and hormones. This work focused on the characterization of the cyanobacterium Halomicronema sp. strain isolated from a brackish environment. This study included microscopic imaging, determination of phenolic content and antioxidant capacity, identification of chemicals interfering with biofilm formation, and transcriptomic analysis by RNA sequencing and real-time PCR. Gene expression analysis was centered on genes related to the production of EPS and biofilm-related transcription factors. This study led to the identification of wza1 and wzt as EPS biomarkers and luxR-05665, along with genes belonging to the TetR/AcrR and LysR families, as potential biomarkers useful for studying and monitoring biofilm formation under different environmental conditions. Moreover, this work revealed that Halomicronema sp. can grow even in the presence of strong abiotic stresses, such as high salt, and has good antioxidant properties. Full article
(This article belongs to the Section Molecular Microbiology)
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Figure 1
<p>Imaging <span class="html-italic">Halomicronema</span> sp. with ESEM in low vacuum mode (<b>A</b>,<b>B</b>), light microscope (<b>C</b>), and with fluorescence microscopy after staining with SYTO-9 (<b>D</b>); for image (<b>C</b>), the magnification used was 40×, and for image (<b>D</b>), the magnification was 100×. For each image, the scale bar is reported at the bottom right.</p>
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<p>Biomass formation of cyanobacteria planktonic and biofilm fractions detected through chlorophyll measurements. <span class="html-italic">Halomicronema</span> sp was grown in BA+ medium for 7 days under 16 h light and 8 h dark; temperature was constant at 23 °C for all the conditions tested. The strain was also tested in the presence of different chemicals: A = CTR the control condition, B = NaCl 340 mM, C = NaCl 680 mM, D = NaCl 1 M, E = MgSO<sub>4</sub> (50 mM), F = MgCl<sub>2</sub> (250 mM), G = EDTA (250 µM), H = CaCl<sub>2</sub> (500 mM), I = Glucose 110 mM (2%), J = KH<sub>2</sub>PO<sub>4</sub> (125 mM), K = CaCl<sub>2</sub> (250 mM), L = EDTA (2.5 mM), M = Na-acetate (50 mM), N = Na-citrate (50 mM), O = (NH<sub>4</sub>)<sub>2</sub>HPO<sub>4</sub> (100 mM), P = (NH<sub>4</sub>)HSO<sub>4</sub> (100 mM), Q = KH<sub>2</sub>PO<sub>4</sub> (50 mM). The data represent the mean and the standard deviation of three independent biological replicates. A Student’s <span class="html-italic">t</span>-test was performed to compare the effects of the different chemicals. The effects were all significant, except for NaCl 340 mM (* was used for <span class="html-italic">p</span>-values &lt; 0.05 and ** for <span class="html-italic">p</span>-values &lt; 0.01; ns: not significant).</p>
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<p>Gene expression analysis of EPS-related genes from <span class="html-italic">Halomicronema</span> sp, cells were grown in six different growing conditions: control, and in the presence of EDTA 250 µM, or MgSO<sub>4</sub> 50 mM, NaCl 340 mM, NaCl 680 mM, and NaCl 1 M; expression is relative to the control condition using the 2<sup>−ΔΔ</sup>Ct method. Red line represents a 2 logfold increased expression, while the green line represents a 2 log-fold decrease in expression. Data outside these two boundaries were considered significant. The data represent the mean and the standard deviation of three independent biological replicates.</p>
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<p>Gene expression analysis of selected transcriptional regulators from <span class="html-italic">Halomicronema</span> sp, cells were grown in six different growing conditions: control, and in the presence of EDTA 250 µM, or MgSO<sub>4</sub> 50 mM, NaCl 340 mM, NaCl 680 mM, and NaCl 1 M. Expression is relative to the control condition using the 2<sup>−ΔΔ</sup>Ct method, and it represented with a heat-map obtained by using <a href="http://www.heatmapper.ca" target="_blank">www.heatmapper.ca</a> (accessed on 1 July 2024).</p>
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13 pages, 3151 KiB  
Article
In Silico Prediction of Maize microRNA as a Xanthine Oxidase Inhibitor: A New Approach to Treating Hyperuricemia Patients
by Manas Joshi and Mohd Mabood Khan
Non-Coding RNA 2025, 11(1), 6; https://doi.org/10.3390/ncrna11010006 - 15 Jan 2025
Viewed by 195
Abstract
Introduction: Hyperuricemia is characterized by increased uric acid (UA) in the body. The ability to block xanthine oxidase (XO) is a useful way to check how different bioactive molecules affect hyperuricemia. Previous reports showed the significant effect of corn against hyperuricemia disorder with [...] Read more.
Introduction: Hyperuricemia is characterized by increased uric acid (UA) in the body. The ability to block xanthine oxidase (XO) is a useful way to check how different bioactive molecules affect hyperuricemia. Previous reports showed the significant effect of corn against hyperuricemia disorder with its anti-XO activity. The identification of stable Zea mays miRNA (zma-miR) in humans has opened up a new avenue for speculation about its part in regulating novel human gene targets. Aims: The aim of this study was to investigate the prospects of zma-miRs in XO gene regulation, the possible mechanism, and the interaction analysis of the zma-miR-XO mRNA transcript. Method: Significant features of miRNA-mRNA interaction were revealed using two popular miRNA target prediction software—intaRNA (version 3.3.1) and RNA hybrid (version 2.2.1) Results: Only 12 zma-miR-156 variants, out of the 325 zma-miR’s sequences reported in the miRNA database, efficiently interact with the 3′UTR of the XO gene. Characteristics of miRNA-mRNA interaction were as follows: the positioning of zma-miR-156 variants shows that they all have the same 11-mer binding sites, guanine (G), and uracil (U) loops at the 13th and 14th positions from the 5′ end, and no G: U wobble pairing. These factors are related to the inhibition of functional mRNA expression. Additionally, the zma-miR-156 variants exhibit a single-base variation (SBV), which leads to distinct yet highly effective alterations in their interaction pattern with the XO mRNA transcript and the corresponding free energy values. Conclusion: Therefore, we propose that zma-miR-156 variants may be a promising new bioactive compound against hyperuricemia and related diseases. Full article
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Figure 1
<p>Sequence alignment figure of zma-miR-156 variants generated by the T-coffee alignment program. Nucleotide differences in zma miR 156 variants from conserved sequence are indicated in red, and the extra nucleotide is indicated in green.</p>
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<p>Diagrammatic view of the xanthine oxidase pathways and mode of action of the zma-miRNA 156 family.</p>
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14 pages, 2311 KiB  
Article
Identifying Genetic Predisposition to Dozer Lamb Syndrome: A Semi-Lethal Muscle Weakness Disease in Sheep
by Morgan R. Stegemiller, Margaret A. Highland, Kathleen M. Ewert, Holly Neaton, David S. Biller and Brenda M. Murdoch
Genes 2025, 16(1), 83; https://doi.org/10.3390/genes16010083 - 14 Jan 2025
Viewed by 228
Abstract
Background: Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15–20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed [...] Read more.
Background: Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15–20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed dozer lamb syndrome. This study aims to determine if there is a genetic predisposition to dozer lamb syndrome. These lambs are weak and unable to lift their heads, suckle, and swallow, resulting in nasal reflux. Methods: Genetic analyses, including a genome-wide association, runs of homozygosity, and fine mapping to determine haploblock within regions of interest, were utilized in determining genetic predispositions to dozer lamb syndrome. Results: The genome-wide association study identified a region of chromosome 15 with three significant SNPs (p-values of 6.81 × 10−6, 5.71 × 10−6, and 8.52 × 10−6). Genetic analysis identified a run of homozygosity on the same region of chromosome 15 with an odds ratio of 236.7. Fine mapping of this region identified three haploblocks associated with the dozer lamb syndrome (p-value = 2.41 × 10−5). Conclusions: The most significant and promising gene in this region is CELF1, which is known to play an important role in muscle development. Abnormal CELF1 abundance and cellular location are reported to result in abnormal muscle development. Identification of genetic aberrations associated with dozer lamb syndrome provides a tool for decreasing or eliminating the genotype and, thus, the associated phenotype(s) from Polypay sheep. Full article
(This article belongs to the Section Animal Genetics and Genomics)
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Figure 1

Figure 1
<p>The physical signs present in some lambs reported with dozer lamb syndrome. (<b>A</b>). Difficulty standing and unable to lift head above the level of the back. (<b>B</b>). Nasal reflux without the presence of a cleft palate. (<b>C</b>). Scoliosis.</p>
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<p>Miami plot illustrating the comparison of the GWAS (<b>top</b>) and percentage of SNPs in runs of homozygosity (ROH) (<b>bottom</b>) analyses of dozer lamb cases and unaffected control sheep.</p>
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<p>The region of significance on chromosome 15, the significant results identified by the GWAS and ROH analyses, and the significant haplotype blocks are identified from fine mapping. (<b>A</b>). The significant GWAS results on chromosome 15 with the location of the ROH are identified in the green bar, and the subset of the ROH is indicated with the blue bar. The black framed boxes (<b>b</b>) and (<b>c</b>) show the locations of the regions of interest in relation to the GWAS and ROH results. (<b>B</b>). Region of interest 1: 50 kb on either side of the SNP rs407879401 with the boxes identifying the significant haploblocks in the region of interest in relation to the genes and significant SNP. (<b>C</b>). Region of interest 2: the 164 kb surrounding SNPs rs628219689 and rs608876284 with the boxes identifying the significant haploblocks in the region of interest in relation to the genes and significant SNP.</p>
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<p>Diplotype distribution for (<b>A</b>). haploblock 28 and (<b>B</b>). haploblock 29 for the affected, control, and parental samples. The black boxes show the segments present in each haploblock, and the SNPs in red are SNPs present only in the affected haplotype.</p>
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7 pages, 1758 KiB  
Case Report
Metagenomic Sequencing for Diagnosing Listeria-Induced Rhombencephalitis in Patient and Contaminated Cheese Samples: A Case Report
by Katarina Resman Rus, Martin Bosilj, Tina Triglav, Matjaž Jereb, Mateja Zalaznik, Maša Klešnik, Danilo Češljarac, Mojca Matičič, Tatjana Avšič-Županc, Tomaž Rus and Misa Korva
Int. J. Mol. Sci. 2025, 26(2), 655; https://doi.org/10.3390/ijms26020655 - 14 Jan 2025
Viewed by 253
Abstract
Among the various causes of rhomboencephalitis, Listeria monocytogenes infection is the most common. However, conventional microbiological methods often yield negative results, making diagnosis challenging and leading to extensive, often inconclusive, diagnostics. Advanced molecular techniques like metagenomic next-generation sequencing (mNGS) offer a powerful and [...] Read more.
Among the various causes of rhomboencephalitis, Listeria monocytogenes infection is the most common. However, conventional microbiological methods often yield negative results, making diagnosis challenging and leading to extensive, often inconclusive, diagnostics. Advanced molecular techniques like metagenomic next-generation sequencing (mNGS) offer a powerful and efficient approach to pathogen identification. We present a case of life-threatening rhomboencephalitis in a 32-year-old immunocompetent patient where extensive microbiological, immunological, and biochemical tests were inconclusive. Given the patient’s consumption of unpasteurized homemade cheese, neurolisteriosis was suspected, and mNGS was employed on clinical samples (CSF, serum, urine) and the food source to identify the pathogen. mNGS detected L. monocytogenes in both patient samples and the cheese. Mapping reads were distributed across the genome, with 18.9% coverage in clinical samples and 11.8% in the cheese sample. Additionally, the Listeriolysin (hlyA) gene was detected with 22.3% coverage in clinical samples and 12.3% in the food source, confirming neurolisteriosis. The patient fully recovered following antibiotic treatment. This case underscores the importance of mNGS in diagnosing CNS infections when conventional methods yield negative results, and supports its inclusion in diagnostic protocols for suspected neurolisteriosis, particularly when traditional methods prove inadequate. Full article
(This article belongs to the Special Issue Neuroinflammation in Neurological Acute Critical Injuries)
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<p>MRI (FLAIR sequence) showing hyperintense lesions consistent with rhombencephalitis in the cerebellum and pons (<b>A</b>), and lesions in the midbrain (<b>B</b>) and bilaterally in the posterior part of the internal capsule (<b>C</b>). The lesions in the brain are marked with arrows.</p>
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<p>Mapping reads of a clinical (red) and a cheese sample (blue) to the reference genome of <span class="html-italic">Listeria monocytogenes</span> (NC_003210.1). The enlarged region shows the coverage of the <span class="html-italic">hly</span> (listeriolysin) gene and the 16S rRNA region.</p>
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18 pages, 365 KiB  
Review
Lynch Syndrome—Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches
by Tudor Razvan Grigorie, Gheorghe Potlog and Sorin Tiberiu Alexandrescu
Medicina 2025, 61(1), 120; https://doi.org/10.3390/medicina61010120 - 14 Jan 2025
Viewed by 235
Abstract
In today’s world, with its continuing advancements in genetics, the identification of Lynch syndrome (LS) increasingly relies on sophisticated genetic testing techniques. Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR [...] Read more.
In today’s world, with its continuing advancements in genetics, the identification of Lynch syndrome (LS) increasingly relies on sophisticated genetic testing techniques. Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. Carriers of path_MLH1 and path_MSH2 genes have a higher risk of developing colorectal cancer (CRC), despite intensive colonoscopic surveillance. Conversely, carriers of path_MSH6 and path_PMS2 genes have a lower risk of developing CRC, which may be due to their lower penetrance and later age of onset. Thus, carriers of path_MLH1 or path_MSH2 would theoretically derive greater benefits from total colectomy, compared to low-risk carriers (path_MSH6 and path_PMS2), in which colonoscopic surveillance might achieve an efficient prophylaxis. Furthermore, regarding the risk of endometrial/ovarian cancer development, there is a global agreement to offer both hysterectomy and bilateral salpingo-oophorectomy to path_MLH1, path_MSH2 and path_MSH6 carriers after the age of 40. In patients with CRC, preoperative knowledge of the diagnosis of LS is of tremendous importance, due to the high risk of metachronous CRC. However, this risk depends on the type of dMMR gene mutation. For carriers of the high-risk variants (MLH1, MSH2 and EPCAM) who have already developed colon cancer, it is strongly recommended a subtotal or total colectomy is performed, while partial colectomy followed by endoscopic surveillance is an appropriate management approach to treat colon cancer in carriers of the low-risk variants (MSH6 and PMS2). On the other hand, extended surgery for index rectal cancer (such as total proctocolectomy) is less effective than extended surgery for index colon cancer from the point of view of metachronous CRC risk reduction, and is associated with a decreased quality of life. Full article
15 pages, 3829 KiB  
Article
Differential Gene Expression Analysis in a Lumbar Spinal Stenosis Rat Model via RNA Sequencing: Identification of Key Molecular Pathways and Therapeutic Insights
by Jin Young Hong, Wan-Jin Jeon, Hyunseong Kim, Changhwan Yeo, Hyun Kim, Yoon Jae Lee and In-Hyuk Ha
Biomedicines 2025, 13(1), 192; https://doi.org/10.3390/biomedicines13010192 - 14 Jan 2025
Viewed by 241
Abstract
Background/Objectives: Lumbar spinal stenosis (LSS) is a degenerative condition characterized by the narrowing of the spinal canal, resulting in chronic pain and impaired mobility. However, the molecular mechanisms underlying LSS remain unclear. In this study, we performed RNA sequencing (RNA-seq) to investigate differential [...] Read more.
Background/Objectives: Lumbar spinal stenosis (LSS) is a degenerative condition characterized by the narrowing of the spinal canal, resulting in chronic pain and impaired mobility. However, the molecular mechanisms underlying LSS remain unclear. In this study, we performed RNA sequencing (RNA-seq) to investigate differential gene expression in a rat LSS model and identify the key genes and pathways involved in its pathogenesis. Methods: We used bioinformatics analysis to identify significant alterations in gene expression between the LSS-induced and sham groups. Results: Pearson’s correlation analysis demonstrated strongly consistent intragroup expression (r > 0.9), with distinct gene expression between the LSS and sham groups. A total of 113 differentially expressed genes (DEGs) were identified, including upregulated genes such as Slc47a1 and Prg4 and downregulated genes such as Higd1c and Mln. Functional enrichment analysis revealed that these DEGs included those involved in key biological processes, including synaptic plasticity, extracellular matrix organization, and hormonal regulation. Gene ontology analysis highlighted critical molecular functions such as mRNA binding and integrin binding, as well as cellular components such as contractile fibers and the extracellular matrix, which were significantly affected by LSS. Conclusions: Our findings provide novel insights into the molecular mechanisms underlying LSS and offer potential avenues for the development of targeted therapies aimed at mitigating disease progression and improving patient outcomes. Full article
(This article belongs to the Section Gene and Cell Therapy)
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<p>Whole-genome RNA sequencing analysis and gene expression patterns in sham and LSS groups. (<b>A</b>) Pearson’s correlation matrix (8 × 8) of gene expression profiles between the sham and LSS groups, showing correlation values between 0.88 and 1.0. (<b>B</b>) Heatmap of gene expression patterns clustered by gene type, illustrating distinct clustering between the sham and LSS groups. (<b>C</b>) Waffle chart summarizing RNA-seq results based on 30,560 rat reference genes.</p>
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<p>DEG analysis between sham and LSS groups. (<b>A</b>) MA plot showing DEG expression by plotting log fold change (logFC) against the average expression levels (logCPM) between sham and LSS groups. (<b>B</b>) Volcano plot illustrating the statistical significance (−log10 (<span class="html-italic">p</span>-value)) of expression changes between sham and LSS groups.</p>
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<p>GO enrichment analysis of differentially expressed genes (DEGs) in the LSS model. (<b>A</b>) Downregulated GO terms in the LSS group compared with the sham group, displayed as a bar graph representing the statistical significance of each term’s downregulation (−log10 (<span class="html-italic">p</span>-value)). (<b>B</b>) Upregulated GO terms in the LSS group, identified through DEG analysis, with a total of 435 enriched terms including 58 MF-related, 262 BP-related, and 63 CC-related.</p>
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<p>KEGG enrichment analysis of MF category in response to LSS induction. (<b>A</b>) Bar chart of KEGG pathway enrichment analysis of DEGs within the MF category. (<b>B</b>) Network showing connections between intersecting genes and various other MFs. (<b>C</b>) Network diagram visualizing interactions between specific genes and their MFs. Key genes include <span class="html-italic">Igf2</span>, <span class="html-italic">Ccn5</span>, <span class="html-italic">Esm1</span>, <span class="html-italic">Clec18a</span>, <span class="html-italic">Prg4</span>, and MicroRNA.</p>
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<p>KEGG enrichment analysis of BP category in response to LSS induction. (<b>A</b>) Bar chart of KEGG pathway enrichment analysis of DEGs within the BP category. (<b>B</b>) Network showing connections between intersecting genes and various other BPs. (<b>C</b>) Network diagram visualizing interactions between specific genes and their BPs. Key genes include <span class="html-italic">Wnt4</span>, <span class="html-italic">Igf2</span>, and <span class="html-italic">Ptgs2</span>.</p>
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<p>KEGG enrichment analysis of CC category in response to LSS induction. (<b>A</b>) Bar chart of KEGG pathway enrichment analysis of DEGs within the CC category. (<b>B</b>) Network showing connections between intersecting genes and various other CCs. (<b>C</b>) Network diagram visualizing interactions between specific genes and their BPs. Key genes include <span class="html-italic">Prg4</span>, <span class="html-italic">Ccn5</span>, <span class="html-italic">Coch</span>, <span class="html-italic">Wnt4</span>, <span class="html-italic">Acta2</span>, <span class="html-italic">Myh11</span>, and <span class="html-italic">Des</span>.</p>
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14 pages, 2941 KiB  
Article
High Antimicrobial Susceptibility of Cloacal Enterococci and Escherichia coli from Free-Living Dalmatian and Great White Pelicans with Detection of Cefotaximase CTX-M-15 Producing Escherichia coli ST69
by Teresa Cardona-Cabrera, Sandra Martínez-Álvarez, Carmen González-Azcona, Carlos Javier Gijón-García, Olga Alexandrou, Giorgos Catsadorakis, Panagiotis Azmanis, Carmen Torres and Ursula Höfle
Antibiotics 2025, 14(1), 83; https://doi.org/10.3390/antibiotics14010083 - 14 Jan 2025
Viewed by 344
Abstract
Background/Objectives: In 2022, an outbreak of H5N1 highly pathogenic avian influenza (HPAI) killed 60% of the largest breeding colony of Dalmatian pelicans (DPs) in the world at Mikri Prespa Lake (Greece), prompting a multidisciplinary study on HPAI and other pathogens. This study determines [...] Read more.
Background/Objectives: In 2022, an outbreak of H5N1 highly pathogenic avian influenza (HPAI) killed 60% of the largest breeding colony of Dalmatian pelicans (DPs) in the world at Mikri Prespa Lake (Greece), prompting a multidisciplinary study on HPAI and other pathogens. This study determines the antimicrobial resistance rates of cloacal enterococci and Escherichia coli in DPs. Methods: Fifty-two blood and cloacal swab samples were collected from 31 nestlings (20 DP/11 great white pelicans) hatched after the H5N1 outbreak at the Prespa colony and 21 subadult/adult DPs captured at a spring migration stopover. The swabs were inoculated in non-selective and chromogenic-selective media. Identification was performed using MALDI-TOF, and antimicrobial susceptibility was tested. The genetic content was characterized using PCR and sequencing, and the clonality of extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli isolates was characterized using Multilocus Sequence Typing. Results: Twenty-eight non-repetitive E. coli and 45 enterococci isolates were recovered in non-selective media; most of them were susceptible to all antibiotics tested (85.7% E. coli/91.1% enterococci). Three of the fifty-two samples (6%, all adults) contained ESBL-E. coli isolates (detected in chromogenic ESBL plates), all carrying the blaCTX-M-15 gene and belonging to the lineage ST69. Conclusions: Despite the susceptibility of most fecal E. coli and enterococci isolates to all antibiotics tested, the finding that E. coli of lineage ST69 carry blaCTX-M-15 is of concern. This high-risk clone needs further investigation to elucidate its primary sources and address the growing threat of antimicrobial resistance from an integrated “One Health” perspective. Furthermore, it is imperative to study the potential impacts of ESBL-E. coli on the endangered DP further. Full article
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<p>Map showing movements of GPS-tagged DP from the Greek eastern DP population (<span class="html-italic">n</span> = 53; 2012–2024). Sampling sites for DP and GWP nestlings (Mikri Prespa Lake) and adult DP (Kerkini Lake) are also shown. Tracking data provided by the Society for the Protection of Prespa. Available online: <a href="https://www.movebank.org/cms/movebank-main" target="_blank">https://www.movebank.org/cms/movebank-main</a> (accessed on 11 September 2024).</p>
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<p>Heatmap showing antibiotic susceptibility (white) and resistance (black) of <span class="html-italic">E. coli</span> isolates recovered in MacConkey media from cloacal swabs from great white and Dalmatian pelicans. Legend: DP, Dalmatian pelican; GWP, great white pelican; AMP, ampicillin; AMC, amoxicillin/clavulanate; FOX, cefoxitin; CTX, cefotaxime; CAZ, ceftazidime; IMP, imipenem; GEN, gentamicin; TOB, tobramycin; TET, tetracycline; CHL, chloramphenicol; SXT, trimethoprim/sulfamethoxazole; and CIP, ciprofloxacin. Black squares, antibiotic-resistant phenotype; gray squares, intermediate-resistant phenotype; white squares, wild-type/susceptible phenotype.</p>
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<p>Heatmap showing antibiotic susceptibility (white) and resistance (black) of all <span class="html-italic">Enterococcus</span> spp. isolates from great white and Dalmatian pelican cloacal swabs recovered in Slanetz–Bartley media. Legend: DP, Dalmatian pelican; GWP, great white pelican; VAN, vancomycin; TEC, teicoplanin; PEN, penicillin; AMP, ampicillin; TET, tetracycline; ERY, erythromycin; GEN, gentamicin; STR, streptomycin; LNZ, linezolid; CHL, chloramphenicol; and CIP, ciprofloxacin. Black squares, antibiotic-resistant phenotype; gray squares, intermediate-resistant phenotype; white squares, susceptible phenotype.</p>
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<p>Proportion of isolates exhibiting antimicrobial resistance among cloacal bacteria from adult and nestling Dalmatian pelicans (DP), <span class="html-italic">E. coli</span> isolated in MAC (<b>left</b>), and enterococci isolated in S-B (<b>right</b>). Antibiotics with no resistance detected among the isolates are excluded. Legend: AMP, ampicillin; AMC, amoxicillin/clavulanate; CTX, cefotaxime; CAZ, ceftazidime; GEN, gentamicin; CIP, ciprofloxacin; TOB, tobramycin; TET, tetracycline; and STR, streptomycin.</p>
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25 pages, 5527 KiB  
Article
Molecular Epidemiological Characteristics of Staphylococcus pseudintermedius, Staphylococcus coagulans, and Coagulase-Negative Staphylococci Cultured from Clinical Canine Skin and Ear Samples in Queensland
by Sara Horsman, Julian Zaugg, Erika Meler, Deirdre Mikkelsen, Ricardo J. Soares Magalhães and Justine S. Gibson
Antibiotics 2025, 14(1), 80; https://doi.org/10.3390/antibiotics14010080 - 13 Jan 2025
Viewed by 439
Abstract
Background/Objectives: Infections in dogs caused by methicillin-resistant staphylococci (MRS) present limited treatment options. This study’s objective was to investigate the molecular epidemiology of Staphylococcus spp. cultured exclusively from clinical canine skin and ear samples in Queensland, Australia, using whole-genome sequencing (WGS). Methods: Forty-two [...] Read more.
Background/Objectives: Infections in dogs caused by methicillin-resistant staphylococci (MRS) present limited treatment options. This study’s objective was to investigate the molecular epidemiology of Staphylococcus spp. cultured exclusively from clinical canine skin and ear samples in Queensland, Australia, using whole-genome sequencing (WGS). Methods: Forty-two Staphylococcus spp. isolated from clinical canine skin and ear samples, from an unknown number of dogs, were sourced from two veterinary diagnostic laboratories between January 2022 and May 2023. These isolates underwent matrix-assisted laser desorption ionisation– time of flight bacterial identification, minimum inhibitory concentration testing using SensititreTM plates and WGS. Phylogenetic trees and core genome multilocus sequence typing (cgMLST) minimum spanning trees (MSTs) were constructed. Results: The isolates included methicillin-resistant and -sensitive S. pseudintermedius (MRSP: 57.1%, 24/42; and MSSP: 19.1%, 8/42), methicillin-resistant and -sensitive S. coagulans (MRSC: 14.3%, 6/42; and MSSC: 2.4%, 1/42) and methicillin-resistant coagulase-negative staphylococci (MR-CoNS: 7.1%, 3/42). Thirty-nine isolates were included after WGS, where all MRS harboured the mecA gene. Eighteen sequence types (STs) were identified, including three novel MRSP and six novel MSSP STs. MRSP ST496-V-VII (23%; 9/39) and MRSP ST749-IV-(IVg) (12.8%; 5/39) were commonly isolated. Phylogenetic analysis of single nucleotide polymorphisms showed that MRSP, MRSC and MSSC were similar to globally isolated staphylococci from canine skin and ear infections. Using cgMLST MSTs, MRSP isolates were not closely related to global strains. Conclusions: Our findings revealed a genotypically diverse geographical distribution and phylogenetic relatedness of staphylococci cultured from clinical canine skin and ear samples across Queensland. This highlights the importance of ongoing surveillance to aid in evidence-based treatment decisions and antimicrobial stewardship. Full article
(This article belongs to the Special Issue Antimicrobial Resistance and Infections in Animals)
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<p>The maximum likelihood phylogenetic tree based on the core-alignment of single nucleotide polymorphisms (SNPs) of the 23 methicillin-resistant <span class="html-italic">Staphylococcus pseudintermedius</span> and 8 methicillin-sensitive <span class="html-italic">S. pseudintermedius</span> isolates cultured from clinical canine skin and ear samples. Included in the tree are 109 clinically relevant <span class="html-italic">S. pseudintermedius</span> genomes from the literature. The genome sequence of <span class="html-italic">S. pseudintermedius</span> LMG 22219 (GCA_001792775.2) was used as the reference for the SNP analysis. The isolates in this study are identified by ‘canine_#’, coloured in red. The presence of a <span class="html-italic">mecA</span> gene, SCC<span class="html-italic">mec</span> type, sample site, country and year the isolate was cultured, number of viruses and plasmids and multilocus sequence types (MLSTs) is annotated in the outer rings.</p>
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<p>The maximum likelihood phylogenetic tree based on the core-alignment of single nucleotide polymorphisms (SNPs) of the five methicillin-resistant <span class="html-italic">Staphylococcus coagulans</span> and one methicillin-sensitive <span class="html-italic">S. coagulans</span> isolates cultured from clinical canine skin and ear samples. Included in the tree are 124 clinically relevant <span class="html-italic">S. coagulans</span> genomes from the literature. The genome sequence of <span class="html-italic">S. coagulans</span> DSM 6628 (GCA_002901995.1) was used as the reference for the SNP analysis. The isolates in this study were identified by ‘canine_#’, coloured in red. The presence of a <span class="html-italic">mecA</span> gene, SCC<span class="html-italic">mec</span> type, sample site, country and year the isolate was cultured and the number of viruses and plasmids is annotated in the outer rings.</p>
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<p>GrapeTree minimum spanning tree showing core genome multilocus sequence types (cgMLST) of the methicillin-resistant and -sensitive <span class="html-italic">Staphylococcus pseudintermedius</span> sequenced isolates in this study (n = 31). The name for each isolate from this study is shown next to the corresponding node or circle (canine_#). The blue numbers refer to the allelic differences between two isolates. Each node represents a unique cgMLST. Canine_49 is a MSSP ST749. Isolates with closely related genotypes (≤25 allelic differences) are shaded in grey. The lines are scaled logarithmically.</p>
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<p>GrapeTree minimum spanning tree showing core genome multilocus sequence type (cgMLST) of the methicillin-resistant and -sensitive <span class="html-italic">Staphylococcus pseudintermedius</span> sequenced isolates in this study (n = 31), and the <span class="html-italic">S. pseudintermedius</span> reference genomes (n = 109). The name for each isolate from this study is shown next to the corresponding node or circle (canine_#). The reference genome nodes are only labelled if the isolates were closely related, denoted as RG_# (n = 31 reference genomes with ≤25 allelic differences). The list of corresponding reference genomes is in the table under the tree. The blue numbers refer to the allelic differences between genomes. Each node represents a unique cgMLST. Canine_49 is a MSSP ST749. Isolates and reference genomes with closely related genotypes (≤25 allelic differences) are shaded in grey. The lines are scaled logarithmically.</p>
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<p>Heatmap displaying the distribution of the <span class="html-italic">Staphylococcus</span> spp. multilocus sequence types (MLSTs), staphylococcal cassette chromosome <span class="html-italic">mec</span> (SCC<span class="html-italic">mec</span>) types, canine demographic factors, sample site, phenotypic antimicrobial resistance (AMR) profiles and AMR and virulence genes of the <span class="html-italic">Staphylococcus</span> spp. isolates (ordered from top to bottom by species and MLST: two methicillin-resistant coagulase-negative staphylococci (MR-CoNS), five methicillin-resistant <span class="html-italic">S. coagulans</span> (MRSC), one methicillin-sensitive <span class="html-italic">S. coagulans</span> (MSSC), 23 methicillin-resistant <span class="html-italic">S. pseudintermedius</span> (MRSP), and eight methicillin-sensitive <span class="html-italic">S. pseudintermedius</span> (MSSP) isolates). Mutations in the fluoroquinolone and mupirocin genes were also identified as an amino acid substitution. The presence and absence of the genes (or mutations) or elements is represented by the coloured and grey blocks, respectively. The horizontal colour bar on the bottom from left to right represents the canine demographic data, antimicrobials/antimicrobial classes for the phenotypic AMR profiles, AMR genes and specific virulence factors. SE-QLD = southeast Queensland; QLD = Queensland; NA = not applicable.</p>
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<p>Heatmap displaying the distribution of the <span class="html-italic">Staphylococcus</span> spp. multilocus sequence types (MLSTs), presence of the <span class="html-italic">mecA</span> gene, staphylococcal cassette chromosome <span class="html-italic">mec</span> (SCC<span class="html-italic">mec</span>) types, canine demographic factors, sample site, efflux pumps, quaternary ammonium compound, heavy metal genes and insertion sequence elements with the cluster identification of the <span class="html-italic">Staphylococcus</span> spp. isolates (ordered from top to bottom by species and MLST: two methicillin-resistant coagulase-negative staphylococci (MR-CoNS) isolates, five methicillin-resistant <span class="html-italic">S. coagulans</span> (MRSC), one methicillin-sensitive <span class="html-italic">S. coagulans</span> (MSSC), 23 methicillin-resistant <span class="html-italic">S. pseudintermedius</span> (MRSP), eight methicillin-sensitive <span class="html-italic">S. pseudintermedius</span> (MSSP) isolates). The presence and absence of the genes or elements is represented by the coloured and grey blocks, respectively. The horizontal colour bar on the bottom from left to right represents the canine demographic data and specific heavy metals including arsenic, cadmium and copper. SE-QLD = southeast Queensland; QLD = Queensland; NA = not applicable.</p>
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29 pages, 575 KiB  
Review
Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies
by Eliza Del Fiol Manna, Davide Serrano, Laura Cazzaniga, Sara Mannucci, Cristina Zanzottera, Francesca Fava, Gaetano Aurilio, Aliana Guerrieri-Gonzaga, Matilde Risti, Mariarosaria Calvello, Irene Feroce, Monica Marabelli, Cecilia Altemura, Lucio Bertario, Bernardo Bonanni and Matteo Lazzeroni
Genes 2025, 16(1), 82; https://doi.org/10.3390/genes16010082 - 13 Jan 2025
Viewed by 452
Abstract
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors [...] Read more.
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease. However, there are gaps in translating how individual genomic variation affects phenotypic presentation. The expansion of criteria for genetic testing and the increasing utilization of comprehensive genetic panels may enhance the identification of individuals carrying P/LP variants linked to hereditary breast cancer. Individualized risk assessment could facilitate the implementation of personalized risk-reduction strategies for these individuals. Preventive interventions encompass lifestyle modifications, chemoprevention, enhanced surveillance through breast imaging, and risk-reducing surgeries. This review addresses the current literature’s inconsistencies and limitations, particularly regarding risk factors and the intensity of preventive strategies for women with P/LP variants in moderate- and high-penetrance genes. In addition, it synthesizes the latest evidence on risk assessment and primary and secondary prevention in women at high risk of breast cancer. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
22 pages, 3795 KiB  
Article
Dynamics and Insights into the Unique Ecological Guild of Fungi in Bacteria-Bioaugmented Anaerobic Digesters
by Linda U. Obi, Ashira Roopnarain, Memory Tekere, Jun Zhou, Heng Li, Yuanpeng Wang, Yanlong Zhang and Rasheed A. Adeleke
J. Fungi 2025, 11(1), 56; https://doi.org/10.3390/jof11010056 - 13 Jan 2025
Viewed by 301
Abstract
Anaerobic digesters host a variety of microorganisms, and they work together to produce biogas. While bacterial and archaeal communities have been well explored using molecular techniques, fungal community structures remain relatively understudied. The present study aims to investigate the dynamics and potential ecological [...] Read more.
Anaerobic digesters host a variety of microorganisms, and they work together to produce biogas. While bacterial and archaeal communities have been well explored using molecular techniques, fungal community structures remain relatively understudied. The present study aims to investigate the dynamics and potential ecological functions of the predominant fungi in bacteria-bioaugmented anaerobic digesters. Eight different anaerobic digesters that contained chopped water hyacinth and cow dung as feedstock at 2% total solids were respectively inoculated with eight different bacterial strains and digested anaerobically in controlled conditions. The diversity and dynamics of the fungal community of the digesters before and after digestion were monitored using high-throughput sequencing of the fungal ITS2 sub-region of the ribosomal gene. The functional potential of the fungal community was predicted using ecological guild analysis. The dominant fungal phyla were (with relative abundance ≥1%) Ascomycota and Neocallimastigomycota. Ascomycota exhibited over 90% dominance in all treatments after anaerobic digestion (AD). Aspergillus sp. was consistently dominant across treatments during AD, while prominent anaerobic fungal genera Anaeromyces, Cyllamyces, and Caeomyces decreased. Ecological guild analysis at genus level showed that the majority of the identified fungi were saprophytes, and diversity indices indicated decreased richness and diversity after AD, suggesting a negative impact of AD on fungal communities in the anaerobic digesters. The multivariate structure of the fungal communities showed clustering of treatments with similar fungal taxa. The findings from this study provide insights into the fungal ecological guild of different bacteria-bioaugmented anaerobic digesters, highlighting their potentials in bacteria-augmented systems. Identification of an anaerobic fungal group within the phylum Ascomycota, beyond the well-known fungal phylum Neocallimastigomycota, offers a new perspective in optimizing the AD processes in specialized ecosystems. Full article
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<p>Cumulative methane yield of AD of water hyacinth and cow dung inoculated with pure cultures (adapted from [<a href="#B20-jof-11-00056" class="html-bibr">20</a>].</p>
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<p>Relative abundance (≥1%) of fungal phyla in treatments before AD and after AD. Phylotypes with an average relative abundance of less than 1% and those unclassified at the phylum level were excluded from the plot.</p>
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<p>Relative abundance of dominant (≥1%) fungal phylotypes at the genus taxonomic rank before AD and after AD. Phylotypes with an average relative abundance of less than 1% and those unclassified at the genus level were excluded from the plot. The plot was generated using the average relative abundance for each group.</p>
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<p>Ecological guild of fungi. Ecological guild was generated with FUNGuild database. Guild allotted as ‘multifarious uses’ comprises fungal sequences that were allotted as animal pathogens, plant pathogens, endophytes, and saprotrophs.</p>
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<p>Correlation: (<b>A</b>) Correlogram showing the correlations among the dominant fungal genera. (<b>B</b>) Correlogram showing significance test for correlated fungi. (<b>C</b>) Correlation network analysis of fungal communities visualized at genus level.</p>
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<p>Description of fungal community diversity with Shannon–Weiner index.</p>
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<p>Bray–Curtis dissimilarity between fungal communities at the genus taxonomic rank. (<b>A</b>) NMDS to envisage the multivariate structure of the fungal communities at the genus taxonomic rank before and after AD. (<b>B</b>) NMDS showing the treatments the fungi belong to. The stress value of the NMDS plot is 0.03 (<a href="#app3-jof-11-00056" class="html-app">Appendix C</a>).</p>
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<p>Principal component analysis (PCA) to envisage relationship between anaerobic digestion dynamics and fungi at genus taxonomic rank over time.</p>
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<p>Relative abundance of dominant fungal class in treatments before and after batch anaerobic digestion. Unclassified phylotypes at the class level were omitted.</p>
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<p>Relative abundance of dominant fungal genera in treatments before and after batch anaerobic digestion. Unclassified phylotypes at the genus level were omitted.</p>
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<p>Stress plot for the NMDS plot in <a href="#jof-11-00056-f005" class="html-fig">Figure 5</a>. Plot was generated to ascertain the integrity of the ordination fit. The ‘stressplot’ function of the vegan package of the R software was used to create the stress plot.</p>
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<p>Rarefaction curve of fungi.</p>
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<p>Top contributions of samples (days) to the second principal component (PC1) from the principal component analysis (PCA).</p>
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<p>Top contributions of samples (days) to the second principal component (PC2) from the principal component analysis (PCA).</p>
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