Molecular Genetics and Genomics最新文献

{"title":"DOT1L-mediated H3K79me3 of ITCH promotes AURKA ubiquitination to suppress ECM degradation in osteoarthritis.","authors":"Duo Xia, Jialiang Li, Xuanping Zhou, Chun Yu, Shu Yang","doi":"10.1007/s00438-026-02514-z","DOIUrl":"10.1007/s00438-026-02514-z","url":null,"abstract":"<p><p>As a prevalent chronic joint disorder, osteoarthritis (OA) is characterized by degenerative changes, primarily driven by the pathological degradation of the chondrocyte extracellular matrix (ECM). Current therapies lack efficacy in halting ECM degradation, making elucidation of its regulatory mechanisms crucial for developing novel OA treatments. This study investigated the role of the DOT1L/ITCH/AURKA axis in ECM degradation during OA development. An in vitro OA model was established by treating rat chondrocytes with 10 ng/mL IL-1β for 24 h. TNF-α and IL-6 secretion was measured by ELISA. ECM content was assessed via alcian blue staining. RT-qPCR, western blot, and immunofluorescence staining analyzed associated molecule expression. Co-IP verified ITCH-AURKA interaction and AURKA ubiquitination. ChIP detected DOT1L and H3K79me3 enrichment at the ITCH promoter. An anterior cruciate ligament transection (ACL-T)-induced OA rat model with intra-articular injection of DOT1L-overexpressing lentivirus was further established, followed by HE staining, safranin O-fast green staining, and IHC analysis. IL-1β stimulation upregulated AURKA but downregulated DOT1L and ITCH expression in rat chondrocytes. ITCH promoted AURKA ubiquitination and degradation, thereby attenuating IL-1β-stimulated degradation of ECM in rat chondrocytes. DOT1L upregulated ITCH expression by mediating H3K79me3 modification at its promoter. DOT1L-dependent H3K79me3 enrichment at the ITCH promoter downregulated AURKA, ultimately inhibiting IL-1β-induced ECM degradation in rat chondrocytes. In vivo, DOT1L overexpression alleviated ACL-T-induced cartilage degeneration and reversed the ACL-T-induced downregulation of ITCH and upregulation of AURKA and ADAMTS5. Collectively, our findings identify the DOT1L/ITCH/AURKA axis as a key epigenetic and post-translational regulatory mechanism that protects against ECM degradation in OA.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148920546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dissecting genetic architecture of growth and yield traits in horsegram using GWAS.","authors":"Sunny Choudhary, Manisha Gautam, Rakesh Kumar Chahota","doi":"10.1007/s00438-026-02517-w","DOIUrl":"10.1007/s00438-026-02517-w","url":null,"abstract":"<p><p>Horsegram (Macrotyloma uniflorum), a member of the Fabaceae family, is a nutritious and low-cost legume used for both grain and fodder. This study employed a genome-wide association approach to identify loci linked to key agronomic traits in horsegram. Plant height, seed size, and shoot fresh weight were evaluated in a panel of 96 diverse genotypes. GBS was performed using the Illumina HiSeq platform, yielding 20,241 high-quality SNPs after filtering at a 5% minor allele frequency. Population structure analysis classified genotypes into three admixed subgroups. Phenotyping was conducted over three consecutive years at two locations in Himachal Pradesh (Palampur and Bajaura) using a randomized block design with two replications. GWAS analyses using GLM, MLM, FarmCPU, and BLINK models identified eight markers for plant height, three for seed size, and five for shoot fresh weight across different chromosomes. These markers provide valuable tools for accelerating trait improvement in future horsegram breeding programs.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148897704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide cyclin gene evolution in Arabidopsis and Brassica reveals polyploidization-driven duplication and flowering-time associations.","authors":"Aldrin Y Cantila, Sheng Chen, Kadambot H M Siddique, Wallace A Cowling","doi":"10.1007/s00438-026-02515-y","DOIUrl":"10.1007/s00438-026-02515-y","url":null,"abstract":"<p><p>Cyclin genes are plant cell cycle regulators that play essential roles in growth, development, and reproduction. However, the evolutionary dynamics and genomic organization of cyclin genes across the Brassicaceae family remain poorly understood, particularly in the context of allotetraploid genome evolution. Here, we investigated the diversity, expansion mechanisms, and potential functional diversification of cyclin genes across ten Brassicaceae genomes, including four Arabidopsis and six Brassica species. A total of 1087 cyclin genes representing 23 cyclin types were identified. Comparative genomic analyses revealed that cyclin gene expansion was strongly influenced by polyploidization in Brassica species, with 1845 duplication events involving 1063 genes. Whole-genome duplication was the predominant mechanism driving expansion, while both inter- and intra-genomic duplications contributed to gene retention in tetraploid Brassica species, with the highest duplication frequency observed in Brassica juncea. Across genomes, 120 physical gene clusters were identified, including homogeneous and heterogeneous types. Ortholog analysis between progenitor and allotetraploid species identified 852 orthologous pairs involving 366 genes, indicating extensive conservation following allotetraploid formation. Phylogenetic analysis resolved cyclins into three major clades, while expression-based clustering in Brassica napus grouped genes into four major clusters, suggesting functional diversification. Integration of pan-genomic and flowering-time QTL analyses further identified two cyclin genes, Bna21cycA2 and Bna113cycD4, which contain amino acid polymorphisms and represent putative candidate variations potentially associated with flowering-time variation across multiple genomes. These findings provide new insights into the evolutionary expansion, retention, and potential functional divergence of cyclin genes in Brassicaceae and highlight candidate loci for future functional studies and crop improvement.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13529845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148865932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative phylogenomics of bacterial urease systems reveals architectural conservation, lineage-specific specialization, and candidate horizontal transfer.","authors":"Monalisha Pal Sarkar, Ayon Pal","doi":"10.1007/s00438-026-02507-y","DOIUrl":"10.1007/s00438-026-02507-y","url":null,"abstract":"<p><p>Urease is a nickel-dependent, multi-gene bacterial system that contributes to nitrogen acquisition, pH homeostasis, and ecological adaptation, yet most comparative studies rely on single-gene markers such as ureC. Here, we analyzed 237 complete genomes from a stratified bacterial panel integrating ecological and genome-level metadata, annotation-guided screening, profile-HMM detection, locus reconstruction, and species-tree comparison. Within this panel, 149 genomes encoded at least one complete urease locus, 11 contained candidate but incomplete neighborhoods, and 77 lacked any supported urease locus. At the locus level, we recovered 173 urease-associated neighborhoods, including 150 canonical ureABC loci, 7 Helicobacter AB fusion loci, and 16 partial or split loci. The canonical three-subunit architecture therefore dominated the dataset, whereas the Helicobacter-type configuration persisted as a small but stable lineage-restricted alternative. Eight genomes encoded duplicated complete canonical systems, and in each case, both loci mapped to the same top-level assembly sequence record. Their paired loci differed in gene order and typically shared only about 62-63% concatenated ureABC identity, consistent with older divergence or secondary acquisition rather than recent exact duplication. Comparison of the concatenated ureABC gene tree with the species tree identified 12 candidate incongruent loci, all involving complete canonical systems. A manual review of the strongest examples highlighted ecologically coherent modules in nitrifiers and marine cyanobacteria, as well as nickel- and hydrogenase-associated urease neighborhoods in enteric bacteria. Together, these results establish bacterial urease as a broadly conserved but evolutionarily flexible genomic component shaped by architectural conservation, lineage-specific specialization, duplication, and occasional intergeneric transfer.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular insights into uterine fibroids: crosstalk between SHH and Wnt pathways, DNA methylation, and miRNAs regulation.","authors":"Grazielle Marques Duarte Purcino, Kelly Pedrozo Ferreira, Nilo Bozzini, Edmund Chada Baracat, Katia Candido Carvalho","doi":"10.1007/s00438-026-02491-3","DOIUrl":"10.1007/s00438-026-02491-3","url":null,"abstract":"<p><p>Uterine leiomyomas (ULMs) are the most common benign gynecological tumors affecting women in reproductive age. Symptoms such as abnormal uterine bleeding, pelvic pain, and infertility may occur, leading to a significant decline in patients' quality of life. In addition, ULMs represent the second leading indication for gynecological surgery in Brazil, imposing a substantial economic burden on the public healthcare system. However, despite their high prevalence and clinical impact, there is still no curative clinical treatment for these tumors, and the molecular mechanisms underlying their development and clinical behavior remain poorly understood. Recent studies have demonstrated the involvement of the Sonic Hedgehog (SHH) signaling pathway in uterine mesenchymal tumors. Therefore, the aim of this study was to investigate the expression profile and regulation of the SHH and Wnt signaling pathways in ULMs, as well as to evaluate their potential role in tumor progression through integrative analyses of promoter methylation, mRNA expression, and microRNA-mediated regulation. Initially, 106 genes related to SHH, Wnt signaling pathways were examined in ULM, compared to normal myometrium (MM) by real-time PCR. Interactions among SHH pathway genes were assessed through multivariate analysis. In addition, methylation profiles of nine key SHH-related genes were evaluated using methylation-specific assays, and the expression of 84 microRNAs (miRNAs) was analyzed in association with differentially expressed genes potentially involved in tumorigenesis. Differential expression analysis identified 23 dysregulated genes, including 13 upregulated and 10 downregulated genes. Multivariate analysis suggested that SHH pathway activation in ULMs occurs independently of SHH-PTCH1 binding and may involve GLI1, CCND1, and BCL-2. Significant DNA methylation alterations were detected in PTCH1, SMO, GLI1, GLI3, GREM1, and WNT1. Furthermore, 16 miRNAs were differentially expressed, eight of which showed significant correlations with their predicted target genes. Collectively, these findings suggest that ULM pathogenesis involves a complex regulatory network integrating SHH and Wnt signaling pathways, epigenetic modifications, and microRNA-mediated post-transcriptional regulation. These results provide novel insights into the molecular mechanisms underlying ULM development and identify candidate regulatory elements that may serve as potential biomarkers or therapeutic targets in future functional studies on uterine fibroids.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13526075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148857550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic dissection of inherited cold-stress reveals resilience hotspots in barley.","authors":"Modhi O Alotaibi, Khairiah Mubarak Alwutayd, Fatmah Ahmed Safhi, Ashwag Shami, Ahmad M Alqudah, Samar G Thabet","doi":"10.1007/s00438-026-02496-y","DOIUrl":"10.1007/s00438-026-02496-y","url":null,"abstract":"<p><p>Cold episodes during early crop development threaten cereal establishment and yield, but it remains unclear whether ancestral cold exposure can generate measurable inherited resilience in barley. We tested this question in a three-generation field experiment using 138 barley accessions and eight third-generation lineage-treatment combinations that separated no-memory, transgenerational, intergenerational and repeated cold-memory classes under control and recurrent cold-stress conditions. Cold stress was imposed by delayed sowing, and establishment, physiological, biochemical, growth, reproductive and yield traits were integrated with standardized cold-memory indices and genome-wide association mapping. Under third-generation cold stress, memory-conditioned lineages outperformed the no-memory cold-stressed lineage for several key traits: germination increased from 79.0% to 83.5-86.6%, seedling survival from 68.0% to 77.7-85.5%, electrolyte leakage declined from 51.5% to 42.1-34.3%, and grain yield per plant increased from 4.27 g to 5.04-5.75 g. The integrated cold resilience index also increased from 38.9 in the no-memory cold-stressed lineage to 49.8, 54.5 and 58.9 in the transgenerational, intergenerational and repeated-memory lineages, respectively. Trait-specific indices confirmed a consistent response hierarchy, with grain-yield memory reaching 26.3%, 36.7% and 44.0% in the same three memory classes. Correlation analysis resolved a stress-protection module centred on membrane stability, oxidative-damage protection and survival, and a productivity module centred on grain-yield memory, reproductive yield and benefit-cost ratio. GWAS using 17,894 quality-filtered SNPs detected 137 significant marker-index-memory associations, including major loci for germination memory on 5H (- log₁₀(P) = 7.58) and benefit-cost ratio on 3H and 6H (- log₁₀(P) = 7.37 and 6.89). Candidate-gene and expression analyses prioritized genes involved in trehalose and sucrose metabolism, receptor-like kinase signalling, ERF-mediated transcriptional regulation, auxin transport, lipid protection, solute transport and genome surveillance. We interpret these results as inherited cold-memory-associated phenotypes rather than direct proof of epigenetic inheritance. The study establishes cold memory as a quantifiable barley resilience trait and provides loci and candidate genes for future functional validation and marker-assisted breeding.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148840823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subcellular localization of human long non-coding RNAs is an isoform-resolved property masked by gene-level analysis.","authors":"Hidenori Tani","doi":"10.1007/s00438-026-02510-3","DOIUrl":"10.1007/s00438-026-02510-3","url":null,"abstract":"<p><p>The function of a long non-coding RNA (lncRNA) is tightly coupled to its subcellular localization, yet localization is almost always annotated at the gene level while most lncRNA genes produce multiple isoforms. Reusing tissue-specific dominant-isoform switch calls for 268 lncRNA genes (GTEx long-read), I assigned each isoform a cytoplasmic-nuclear relative concentration index (CN-RCI) measured from ENCODE subcellular fractionation RNA-seq across 15 human cell lines (1,262 isoforms localized). Of the 163 genes with both tissue-dominant isoforms localized, 45 (27.6%) are masked: the gene-level CN-RCI sits in the neutral zone while the gene's isoforms occupy opposite compartments. That unfiltered figure is not itself evidence of within-gene heterogeneity, since exchangeable dispersion produces 25% under two null models. Requiring each isoform's compartment call to be reproducible across cell lines, and scoring the nulls on the same genes, 21 of 98 genes are masked (21.4%) against 3.1% expected, and 8 of 54 (14.8%) against 0.3% under the strictest criterion (both p = 0.001). The measurement reproduces in RKO cells from an unrelated laboratory, protocol and quantifier (Spearman ρ = 0.71), in BLaER1 cells (ρ = 0.80), under an independent quantifier, and against proximity labelling, which never fractionates cells (ρ = 0.56). The unchanged pipeline places 48 of 49 control isoforms in their established compartments, and recovers the reported pattern at four of five genes whose individual isoforms have been localized without sequencing. Tissue switching does not preferentially cross compartments, and the compartment differences are not explained by Alu content, 3'-end usage, structural mode or translation.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148830493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HOXC9 transcriptionally activates NRP1 to promote cell malignant progression and immune evasion in colorectal cancer.","authors":"Xiaofeng Qiu, Sheng Hu, Bingling Liao, Huijun Zhang, Yuncheng Tang, Qihua Xu","doi":"10.1007/s00438-026-02499-9","DOIUrl":"10.1007/s00438-026-02499-9","url":null,"abstract":"<p><p>Transcription factor homeobox C9 (HOXC9) has been reported to be up-regulated and associated with poor prognosis in colorectal cancer (CRC). This study focused on the regulatory role and molecular mechanism of HOXC9 in CRC progression and immune response. Differential analysis from the GSE25070 dataset was performed. The mRNA and protein levels of target genes were measured using qPCR and Western blotting. Malignant behaviors in LoVo and Caco2 cells were assessed using colony formation assay, transwell assay and tumor sphere formation assay. Programmed death ligand 1 (PD-L1) expression on cell surface was detected using flow cytometry. LoVo and Caco2 cells were co-cultured with CD8 + T cells, followed by apoptosis detection using flow cytometry and quantification of immune-related mRNA using qPCR. Role of HOXC9 in vivo was explored through xenograft tumor assay. Interaction between HOXC9 and neuropilin 1 (NRP1) was validated via chromatin immunoprecipitation (ChIP) and dual-luciferase reporter assay. HOXC9 was upregulated and predicted a poor prognosis in CRC. Silencing HOXC9 suppressed CRC cell proliferation, migration, invasion, cell stemness, down-regulated PD-L1 expression and promoted anti-tumor immune function of CD8 + T cells. HOXC9 knockdown reduced CRC tumor growth and PD-L1 expression in vivo. HOXC9 elevated NRP1 expression via transcriptional activation of NRP1. NRP1 overexpression could reverse CRC progression inhibition and immune function enhancement caused by HOXC9 downregulation. These findings elucidate a specific mechanism whereby HOXC9 transcriptionally activates NRP1, thereby contributing to CRC malignant development and immune evasion.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148813653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic characterisation of vancomycin-resistant Enterococcus faecium with Tn1546-plasmid rep17 in obstetrics and gynaecology settings in Algeria.","authors":"Chahinez Boutefnouchet, Hajira Berredjem, Hayet Aouras, Seydina M Diene","doi":"10.1007/s00438-026-02505-0","DOIUrl":"10.1007/s00438-026-02505-0","url":null,"abstract":"<p><p>Enterococcus faecium is a major global health threat, particularly in high-risk patient groups, and the emergence of vancomycin-resistant strains (VREfm) has severely limited treatment options. Here, we conducted a comprehensive genomic analysis of two clinical vanA-type VREfm isolates. Two VREfm strains were isolated 20 days apart from surgical site infections (SSIs) from two different hospitalised patients in obstetrics and gynaecology departments because of post-operative wound infections. Antibiotic susceptibility profile, whole-genome sequencing (WGS), and bioinformatic analyses were conducted to investigate plasmids, resistome and genomic relatedness with reported E. faecium genomes. Both isolates were identified as ST80 within the clonal complex CC17 and revealed close relatedness, since only 8 gSNPs distinguish them. They exhibited multidrug-resistance phenotype mediated by the presence of resistance genes to vancomycin, to aminoglycosides, and to macrolides. The vanA operon was found in a Tn1546 transposon-like element on the rep17 plasmid that also carries locus 3: [ant(6)-sat(4)-aph(3')] raising the possibility of its transfer into a staphylococcal genome, as recently reported. Our study reports genomic attributes of two clinical VREfm ST80 isolates, harbouring a vanA-carrying rep17 plasmid in Algeria highlighting the presence of the epidemic VREfm ST80 clone evolving in healthcare settings.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148813639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular determinants of pathogenicity in a Streptococcus equi subsp. zooepidemicus strain from wild boar in Russia.","authors":"Olga I Zakharova, Irina V Razheva, Nadezhda A Gladkova, Polina S Krashennikova, Ivan V Iashin, Elena A Liskova","doi":"10.1007/s00438-026-02503-2","DOIUrl":"10.1007/s00438-026-02503-2","url":null,"abstract":"<p><p>Streptococcus equi subspecies zooepidemicus (SEZ) is a highly adaptable bacterial pathogen capable of interspecies transmission. Its evolutionary success is attributed to significant genetic plasticity, enabling colonization of a broad host range including horses, cattle, pigs, and humans. Streptococcus equi subsp. zooepidemicus SB1 (SEZ SB1) is a recognized cause of severe disease in various animal populations, underscoring its importance as an emerging pathogen of veterinary and potential zoonotic concern. This study provides a comprehensive characterization of a SEZ SB1 isolate obtained from a wild boar. A multi-level diagnostic strategy was employed, encompassing standard microbiological culture, biochemical profiling, molecular analysis (qPCR), and phylogenetic identification based on the 16 S rRNA gene. This integrated approach confirmed the species identity and delineated the isolate's molecular genetic features. Crucially, whole-genome sequencing revealed a repertoire of virulence factors potentially central to the pathogenesis of streptococcal infections in animals. A finding of particular interest was the identification of the mf2 virulence gene, previously associated with prophages in Streptococcus pyogenes, which expands our understanding of the genetic mobility and evolutionary adaptability of SEZ. These results highlight the necessity of comprehensive diagnostic strategies for the identification and surveillance of pathogenic SEZ strains. The study provides new insights into the role of these bacteria as pathogens at the human-animal interface and emphasizes the need for further investigation into their molecular determinants of pathogenicity.</p>","PeriodicalId":18816,"journal":{"name":"Molecular Genetics and Genomics","volume":"301 1","pages":""},"PeriodicalIF":2.2,"publicationDate":"2026-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148813601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}