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19 pages, 7052 KB  
Article
Identification of Carrot Expansin Gene Family and Its Regulation of Carrot Growth and Development
by Rong-Rong Zhang, Ya-Hui Wang, Jian-Ping Tao, Jian-Hua Zhou, Nan Zhang, Xue-Feng Peng, Li Zhang, Xiaoe Xiang, Yu-Jie Sun, Guo-Fei Tan and Ai-Sheng Xiong
Agronomy 2025, 15(10), 2338; https://doi.org/10.3390/agronomy15102338 - 5 Oct 2025
Viewed by 172
Abstract
Carrot (Daucus carota L.) is an important root vegetable crop in the Apiaceae and is widely cultivated around the world. Expansins play crucial roles in the growth and development of plants. Here, a total of 35 carrot expansins were identified from carrot. [...] Read more.
Carrot (Daucus carota L.) is an important root vegetable crop in the Apiaceae and is widely cultivated around the world. Expansins play crucial roles in the growth and development of plants. Here, a total of 35 carrot expansins were identified from carrot. Sequence alignment and phylogenetic analysis revealed that carrot expansins could be classified into four subfamilies, each with similar exon/intron structures and motif compositions, indicating that carrot expansins were relatively conserved during evolution. Chromosomal localization and gene duplication analysis indicated that DcEXP genes were unevenly distributed across carrot nine chromosomes and had evolved predominantly under purifying selection. Measurements of key agronomic characters of carrots at different developmental stages (30, 60, and 90 days after sowing) indicated significant positive correlations among root fresh weight, aboveground fresh weight, root–shoot ratio, root length, and root diameter. The period from 30 to 60 days after sowing was identified as the primary phase of taproot enlargement. Analysis of spatiotemporal expression patterns revealed that most DcEXP genes were specifically expressed in the taproots, and only one gene, DcEXP18, was specifically expressed in leaves. During the rapid growth period of carrot taproots (30 and 60 days after sowing), the genes DcEXP2, DcEXP3, DcEXP5, DcEXP8, DcEXP11, DcEXP13, DcEXP17, DcEXP19, DcEXP20, DcEXP22, DcEXP26, DcEXP28, and DcEXP33 exhibited high expression levels, suggesting that they played potential important roles in carrot taproot enlargement. These findings will advance our knowledge of the molecular mechanisms underlying expansin regulation of carrot growth and development. Full article
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14 pages, 279 KB  
Article
Significant Prevalence of Dual KPC/NDM Carbapenemase-Producing Klebsiella pneumoniae in an ICU Cohort in Thessaloniki (2023), Including an ST512 Isolate Co-Harboring blaNDM-1 and blaKPC-3
by Maria Chatzidimitriou, Apostolos Voulgaridis, Pandora Tsolakidou, Fani Chatzopoulou, Ioannis Chonianakis, Eleni Vagdatli, Melania Kachrimanidou and Timoleon-Achilleas Vyzantiadis
Antibiotics 2025, 14(10), 994; https://doi.org/10.3390/antibiotics14100994 - 4 Oct 2025
Viewed by 208
Abstract
Background/Objectives: Carbapenem-resistant Klebsiella pneumoniae (CRKP) threatens Intensive Care Units (ICU), particularly in settings where serine (KPC) and metallo-β-lactamases (NDM) co-circulate. The aim of this study was to assess CRKP susceptibility especially to novel β-lactam/β-lactamase inhibitor combinations, characterize the genetic determinants of resistance, [...] Read more.
Background/Objectives: Carbapenem-resistant Klebsiella pneumoniae (CRKP) threatens Intensive Care Units (ICU), particularly in settings where serine (KPC) and metallo-β-lactamases (NDM) co-circulate. The aim of this study was to assess CRKP susceptibility especially to novel β-lactam/β-lactamase inhibitor combinations, characterize the genetic determinants of resistance, and contribute to the understanding of local epidemiology in the ICU of our hospital. Methods: We studied 32 non-duplicate CRKP isolates (30 ICU, 2 wards) collected at Hippokration General Hospital, Thessaloniki (May–Oct 2023). Bacterial identification and Antimicrobial susceptibility testing (AST) were performed by VITEK-2; Minimum inhibitory concentrations (MICs) for ceftazidime/avibactam (CAZ/AVI), meropenem/vaborbactam (MER/VAB), and imipenem/relebactam (IMI/REL) were determined by E-tests. Colistin MICs were performed by broth microdilution. Carbapenemases were screened phenotypically and by immunochromatography and confirmed by multiplex PCR. One bronchial isolate co-harboring blaNDM and blaKPC genes underwent WGS. Results: All isolates were carbapenem-resistant and showed extensive resistance to β-lactams and fluoroquinolones. By PCR, 8/32 (25%) carried blaKPC alone, 8/32 (25.0%) blaNDM alone, and 16/32 (50%) co-harbored blaKPC and blaNDM. KPC-only isolates were generally susceptible in vitro to CAZ/AVI, MER/VAB, and IMI/REL, whereas dual KPC-NDM producers were resistant to all three combinations. Tigecycline showed the highest retained activity; colistin remained active in a minority. WGS of one ST512 (CG258) isolate revealed co-harboring blaNDM-1 and blaKPC-3 with additional resistance determinants and plasmid replicons, consistent with high-risk spread. Conclusions: Half of CRKP isolates in this ICU-predominant series co-produced KPC and NDM, severely limiting β-lactam/β-lactamase inhibitor options. These data support routine screening for carbapenemases, strict infection prevention, antimicrobial stewardship, and access to agents active against MBLs. Full article
21 pages, 7313 KB  
Article
Integrated Transcriptome and Metabolome Analyses Reveal the Roles of MADS-Box Genes in Regulating Flower Development and Metabolite Accumulation in Osmanthus fragran
by Qian Zhang, Jie Yang, Xiangling Zeng, Hongguo Chen, Yingting Zhang, Guifu Zhang, Zeqing Li, Xuan Cai and Jingjing Zou
Curr. Issues Mol. Biol. 2025, 47(10), 819; https://doi.org/10.3390/cimb47100819 - 3 Oct 2025
Viewed by 197
Abstract
The MADS-box transcription factors play essential roles in various processes of plant growth and development. Here, we identified 107 MADS-box genes in Osmanthus fragrans Lour. genome (OfMADS), encoding proteins ranging from 61 to 608 amino acids. Phylogenetic analysis classified these genes [...] Read more.
The MADS-box transcription factors play essential roles in various processes of plant growth and development. Here, we identified 107 MADS-box genes in Osmanthus fragrans Lour. genome (OfMADS), encoding proteins ranging from 61 to 608 amino acids. Phylogenetic analysis classified these genes into five subfamilies: MIKC*, MIKCC, , , and , with conserved motif architectures within subfamilies. Tandem and whole-genome duplications were identified as key drivers of OfMADS expansion. Cis-regulatory element analysis revealed enrichment for hormone response and developmental regulatory motifs, implicating roles in growth and flowering processes. Transcriptome dynamics across six floral developmental stages (bolting to petal shedding) uncovered 78 differentially expressed OfMADS genes, including 16 exhibiting flower-specific expressions. Integrated metabolome profiling demonstrated robust correlations between critical OfMADS regulators and scent metabolites. This nexus suggests a potential role of these OfMADS in regulating specialized metabolite biosynthesis pathways. Our multi-omics study provides insights into the regulatory hierarchy of OfMADS in coordinating floral morphogenesis and the accumulation of economically significant metabolites in O. fragrans. These findings establish a foundation for subsequent functional validation and molecular breeding of horticultural traits. Full article
(This article belongs to the Section Molecular Plant Sciences)
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16 pages, 3706 KB  
Article
Molecular Epidemiology of Human Metapneumovirus Infections in Children from San Luis Potosí-Mexico
by Nadia Martínez-Marrero, Juan Carlos Muñoz-Escalante, Jan Michell Yerena-Rivera, Luis Rubén Jaime-Rocha, José J. Leija-Martínez, Ana María González-Ortiz and Daniel E. Noyola
Viruses 2025, 17(10), 1338; https://doi.org/10.3390/v17101338 - 2 Oct 2025
Viewed by 425
Abstract
Lower respiratory infections are a leading cause of death in children under five years. Human metapneumovirus (HMPV) is an underestimated causal agent of these infections. In this study, the molecular epidemiology of HMPV associated with respiratory infections in Mexican children between August 2023 [...] Read more.
Lower respiratory infections are a leading cause of death in children under five years. Human metapneumovirus (HMPV) is an underestimated causal agent of these infections. In this study, the molecular epidemiology of HMPV associated with respiratory infections in Mexican children between August 2023 and August 2024 was determined. Sequences were also analyzed for predicted N- and O-linked glycosylation sites. Overall, 34 sequences from infants with respiratory infections were obtained; 32 were assigned to the A2b2 genotype, one to A2b1, and one to B2. All but one of the A2b2 sequences carried the 111-nucleotide duplication of the G gene; the remaining sequence carried the 180-nucleotide duplication. The samples assigned to the A2b1 and B2 genotypes did not have a duplication. The HMPV-A phylogeny did not show a clustering of Mexican sequences as a single monophyletic group. Four N-linked glycosylation sites were predicted in the HMPV-A sequences and three in the B sequence. The number of O-linked glycosylation sites predicted in HMPV-A ranged from 61 to 77 and were 61 in the HMPV-B sequence. This first description of HMPV genotypes and the diverse array of G protein N- and O-linked glycosylation patterns found in a Mexican pediatric population in the post-pandemic period contributes to the understanding of the global spread of HMPV. Full article
(This article belongs to the Section Human Virology and Viral Diseases)
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9 pages, 339 KB  
Review
Exploring pUS27: Insights into Its Role in HCMV Pathogenesis and Potential for Antiviral Strategies
by Gage M. Connors and Juliet V. Spencer
Pathogens 2025, 14(10), 993; https://doi.org/10.3390/pathogens14100993 - 1 Oct 2025
Viewed by 261
Abstract
Human cytomegalovirus (HCMV) is a complex pathogen that encodes a diverse array of proteins essential for its survival and replication within host organisms. Among these proteins, a noteworthy group comprises four chemokine-like G protein-coupled receptors (cellular GPCRs), which play pivotal roles in the [...] Read more.
Human cytomegalovirus (HCMV) is a complex pathogen that encodes a diverse array of proteins essential for its survival and replication within host organisms. Among these proteins, a noteworthy group comprises four chemokine-like G protein-coupled receptors (cellular GPCRs), which play pivotal roles in the virus’s evasion of the host immune response and the establishment of persistent infections. Of particular interest is pUS28, recognized as one of the most extensively studied viral GPCRs (vGPCRs). This receptor has attracted significant attention for its potential as a target for innovative antiviral therapies aimed at addressing HCMV-related diseases. In contrast, pUS27 has not been as thoroughly characterized, presenting a potentially promising avenue for antiviral intervention. The relative scarcity of research surrounding pUS27 underscores an exciting opportunity for further exploration, as a deeper understanding of its functions and mechanisms may reveal novel strategies for combating HCMV infections. This review seeks to synthesize recent advancements in our understanding of pUS27, elucidating its biological roles, interactions, and potential implications for therapeutic development. We will also highlight critical gaps in the existing literature that warrant further investigation, underscoring the need for a more comprehensive understanding of this understudied receptor. By delving into the complexities of pUS27, we aim to inspire future research initiatives that could lead to the development of novel antiviral treatments, thereby enhancing our overall understanding of HCMV pathogenesis. Importance: The study of vGPCRs is essential for understanding how viruses like HCMV manipulate host cell signaling and evade immune responses. While pUS28 has been extensively studied due to its broad chemokine binding and signaling activity, its lesser-known homolog, pUS27, warrants closer attention. Likely arising from a gene duplication event, pUS27 shares approximately 31% sequence identity with pUS28 and is conserved across HCMV strains, suggesting an important functional role. By focusing on pUS27, we may uncover shared mechanisms that allow therapies to effectively target both pUS28 and pUS27, potentially leading to more potent antiviral treatments. The implications of studying pUS27 are profound, as it could play a pivotal role in improving our approaches to combating HCMV and enhancing our overall understanding of immune evasion strategies. Full article
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14 pages, 5008 KB  
Article
Genome-Wide Identification of the BBX Gene Family: StBBX17 Positively Regulates Cold Tolerance in Potato
by Xiaobo Luo, Luo Wang, Feng Shen, Yi Mei, Degang Zhao and Fei Li
Horticulturae 2025, 11(10), 1167; https://doi.org/10.3390/horticulturae11101167 - 1 Oct 2025
Viewed by 226
Abstract
Potato is an important crop in the world and is rich in various nutrients. Common tetraploid potato is not tolerant of low temperatures and frost. Low-temperature stress severely affects the growth above-ground and the yield underground in potato. The BBX genes play an [...] Read more.
Potato is an important crop in the world and is rich in various nutrients. Common tetraploid potato is not tolerant of low temperatures and frost. Low-temperature stress severely affects the growth above-ground and the yield underground in potato. The BBX genes play an important role in the plant response to low-temperature stress. However, the molecular mechanism underlying the potato StBBX genes involved in cold stress response remains unclear. In the present study, 30 StBBX genes were identified in potato and divided into five groups. A total of 10 motifs and 10 cis-acting elements were obtained in all BBX proteins. All StBBX genes contained light responsive elements in the promoter, of which nine StBBX genes harbored low-temperature responsive elements. In total, 15 pairs of StBBX genes were identified in duplicated genomic regions. The gene expression patterns of all StBBXs were assessed in different tissues by transcriptome data. The qRT-PCR analysis indicated that six StBBX genes were significantly induced in response to cold stress. Subcellular localization suggested that the StBBX17 protein was localized in the nucleus. Compared with wild type (WT), the cold tolerance in StBBX17 overexpression lines was dramatically increased. After cold treatment, the StBBX17 overexpression lines displayed a less injured area of leaves and lower electrolyte leakage compared with the WT plants, demonstrating StBBX17 positively regulated cold tolerances in potato. These results indicate that StBBX genes have important functions under cold stress, providing a theoretical reference for the breeding of cold-resistant potato. Full article
(This article belongs to the Section Biotic and Abiotic Stress)
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14 pages, 5315 KB  
Article
Genome-Wide Analysis of Terpene Synthase Genes in Crocus sativus Reveals Their Regulatory Roles in Terpenoid Biosynthesis and Abiotic Stress Tolerance
by Muqaddas Bano, Xingnuo Li, Ahmad Ali, Mohsin Khan, Liang Chen and Xiujun Zhang
Int. J. Mol. Sci. 2025, 26(19), 9548; https://doi.org/10.3390/ijms26199548 - 30 Sep 2025
Viewed by 267
Abstract
Terpene synthases (TPS) facilitate terpenoid production, influencing the flavor, color, and medicinal properties of Crocus sativus (saffron), a triploid geophyte of significant commercial importance. Despite its importance, the CsTPS gene family remains poorly characterized, limiting genetic enhancements in saffron’s agronomic features. This research [...] Read more.
Terpene synthases (TPS) facilitate terpenoid production, influencing the flavor, color, and medicinal properties of Crocus sativus (saffron), a triploid geophyte of significant commercial importance. Despite its importance, the CsTPS gene family remains poorly characterized, limiting genetic enhancements in saffron’s agronomic features. This research performed a comprehensive genome-wide analysis of CsTPS genes using genomic, transcriptomic, and in silico approaches. BLASTP and PfamScan discovered thirty CsTPS genes, demonstrating conserved TPS domains, varied exon–intron architectures, and chromosomal clustering indicative of tandem duplications. Phylogenetic research categorized these genes into five subfamilies (TPS-a to TPS-e), with the prevalence of TPS-a suggesting a role in sesquiterpene biosynthesis. RNA-seq data (PRJNA976833, PRJNA400472) revealed tissue-specific expression, with CsTPS1 and CsTPS5 expressed in reproductive tissues and CsTPS2 in vegetative tissues. Stress-responsive genes (CsTPS1, CsTPS4) exhibited upregulation in response to cold and pathogen stress, with cis-regulatory elements (e.g., ARE, ABRE) indicating hormone control. The in-silico validation of CsTPS1, chosen for its elevated GMQE score (0.89), included primer design, ePCR, and vector optimization for expression in Arabidopsis thaliana. This study elucidates the contribution of the CsTPS family to saffron terpenoid diversity, providing a foundation for enhancing flavor, yield, and stress tolerance through genetic engineering. Full article
(This article belongs to the Special Issue Plant Molecular Regulatory Networks and Stress Responses)
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17 pages, 2940 KB  
Article
Genome-Wide Identification of the BXL Gene Family in Soybean and Expression Analysis Under Salt Stress
by Yimin Wen, Biwei Lai, Weijie Hu, Mengyang You, Lingshuang Wang and Tong Su
Int. J. Mol. Sci. 2025, 26(19), 9534; https://doi.org/10.3390/ijms26199534 - 29 Sep 2025
Viewed by 216
Abstract
β-D-xylosidases (BXLs) are pivotal enzymes in xylan degradation, playing essential roles in plant development and stress responses. In this study, we identified 29 GmBXL genes in soybean through homolog alignment. Phylogenetic analysis classified these genes into three groups, with Group III being legume-specific. [...] Read more.
β-D-xylosidases (BXLs) are pivotal enzymes in xylan degradation, playing essential roles in plant development and stress responses. In this study, we identified 29 GmBXL genes in soybean through homolog alignment. Phylogenetic analysis classified these genes into three groups, with Group III being legume-specific. The GmBXLs are unevenly distributed across 15 chromosomes, with their expansion driven by both tandem and segmental duplications. Conserved motif and domain analyses revealed functional conservation, particularly in family 3 of glycoside hydrolase domains. Promoter regions of GmBXLs are enriched with hormone-responsive and stress-related cis-elements, indicating their involvement in diverse biological processes. Tissue-specific expression analysis revealed differential GmBXLs expression across leaves, roots, flowers, and seeds, with GmBXL13 and GmBXL26 exhibiting notably high transcript levels in pods and seeds. Under salt stress, 26 GmBXLs exhibited significant expression changes, with 20 genes up-regulated in both leaves and roots, highlighting their roles in salt tolerance. These findings enhance our understanding of the evolutionary and functional characteristics of GmBXLs, providing valuable insights for molecular breeding of salt-tolerant soybean varieties. Full article
(This article belongs to the Special Issue Molecular Biology of Soybean)
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18 pages, 5898 KB  
Article
Genome-Wide Identification and Functional Characterization of the LbaLHCB Gene Family Reveals Tissue-Specific Expression and Salt Stress Response in Lycium barbarum
by Zhi-Hang Hu, Yue Yin, Li-Xiang Wang, Nan Zhang, Ya-Hui Wang, Jing Zhuang and Ai-Sheng Xiong
Int. J. Mol. Sci. 2025, 26(19), 9523; https://doi.org/10.3390/ijms26199523 - 29 Sep 2025
Viewed by 233
Abstract
The LHCB gene family plays a crucial role in light harvesting and photoprotection in plants by encoding key components of the photosystem II antenna complex. The LHCB genes are also involved in salt stress. In this study, we systematically identified and characterized 16 [...] Read more.
The LHCB gene family plays a crucial role in light harvesting and photoprotection in plants by encoding key components of the photosystem II antenna complex. The LHCB genes are also involved in salt stress. In this study, we systematically identified and characterized 16 LbaLHCB genes in the economically important medicinal plant Lycium barbarum. Comprehensive bioinformatics analyses revealed that these genes are unevenly distributed across seven chromosomes, with notable gene clustering on chromosome 11. Phylogenetic analysis classified them into seven distinct subfamilies, with the LbaLHCB1 subfamily showing significant expansion through gene duplication events. qRT-PCR and transcriptome analyses revealed tissue-specific expression patterns, with LbaLHCB1.6 exhibiting preferential expression in developing fruits, suggesting its potential involvement in fruit development and quality formation. Under salt stress conditions, the LbaLHCB genes displayed dynamic temporal responses: LbaLHCB1.5 was rapidly induced during early stress (1–3 h), LbaLHCB7 reached peak expression at mid-phase (6–12 h), while LbaLHCB1.2 showed significant downregulation during late stress response (24 h). Promoter analysis identified multiple stress-responsive cis-elements, providing molecular insights into their regulation under abiotic stress. These findings significantly advance our understanding of the LbaLHCB gene family’s structural characteristics and functional diversification in L. barbarum, particularly in relation to photosynthesis regulation and stress adaptation. The study provides valuable genetic resources for future molecular breeding aimed at improving stress tolerance and fruit quality in this important medicinal crop. Full article
(This article belongs to the Section Molecular Plant Sciences)
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19 pages, 8670 KB  
Article
Identification and Expression Analysis of CCCH Zinc Finger Proteins in Mulberry (Morus alba)
by Feng Chen, Jie Yu, Zhi-Hong Han and Yong-Jin Deng
Int. J. Mol. Sci. 2025, 26(19), 9490; https://doi.org/10.3390/ijms26199490 - 28 Sep 2025
Viewed by 153
Abstract
CCCH zinc finger proteins play critical roles in plant growth, development and stress responses. Here, 56 CCCH genes were identified in Morus alba. These genes displayed wide variation in coding sequence (456–6318 bp) and protein length (151–2105 aa), with most proteins predicted [...] Read more.
CCCH zinc finger proteins play critical roles in plant growth, development and stress responses. Here, 56 CCCH genes were identified in Morus alba. These genes displayed wide variation in coding sequence (456–6318 bp) and protein length (151–2105 aa), with most proteins predicted to localize in the nucleus and a few in chloroplasts, the endoplasmic reticulum or cytoplasm. Chromosomal mapping showed uneven distribution across 14 chromosomes, with tandem clusters on chromosomes 1, 6 and 13. Phylogenetic analysis classified 53 MaC3Hs into 13 subfamilies, while three genes remained ungrouped. Synteny analysis revealed four segmental duplication events, suggesting segmental duplication as the major expansion mechanism, under purifying selection. Comparative collinearity showed higher conservation with Arabidopsis thaliana than with rice or maize. Promoter analysis identified 22 cis-acting elements, mainly related to phytohormones, followed by abiotic stress and developmental regulation. Expression profiling under drought stress revealed differential expression across tissues, with MaC3H33 showing strong induction (>200-fold in stems on day 6). Subcellular localization confirmed MaC3H33 is nuclear, and yeast assays indicated no self-activation. These findings provide comprehensive insights into the MaC3H gene family and lay a foundation for functional studies related to drought tolerance in mulberry. Full article
(This article belongs to the Section Molecular Plant Sciences)
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19 pages, 9036 KB  
Article
Genome-Wide Analysis of the HECT-Type E3 Ubiquitin Ligase Gene Family in Nicotiana benthamiana: Evidence Implicating NbHECT6 and NbHECT13 in the Response to Tomato Yellow Leaf Curl Virus Infection
by Jin Shen, Shasha Yu, Fang Ye, Yiming Zhang, Xue Wu, Mengxuan Shi, Gen Zhao, Yang Shen, Zhoufo Lu, Zaihang Yu, Xinyu Li, Xueting Zhong and Zhanqi Wang
Genes 2025, 16(10), 1150; https://doi.org/10.3390/genes16101150 - 27 Sep 2025
Viewed by 316
Abstract
Background: The ubiquitin–proteasome system plays a critical role in plant antiviral defense, with HECT-type E3 ubiquitin ligases serving as key regulators of protein turnover. To explore the potential involvement of the HECT gene family in host resistance against tomato yellow leaf curl virus [...] Read more.
Background: The ubiquitin–proteasome system plays a critical role in plant antiviral defense, with HECT-type E3 ubiquitin ligases serving as key regulators of protein turnover. To explore the potential involvement of the HECT gene family in host resistance against tomato yellow leaf curl virus (TYLCV), a comprehensive analysis was conducted in Nicotiana benthamiana. Methods: In this study, the HECT gene family in N. benthamiana was systematically investigated using a genome-wide bioinformatic analysis. The potential roles of these genes in the response to TYLCV infection were further examined using a virus-induced gene silencing (VIGS) technique. Results: Using a Hidden Markov Model approach, 18 NbHECT genes were identified that phylogenetically clustered into four subfamilies with distinct structural features. Chromosomal location and synteny analyses indicated that these genes were unevenly distributed across 11 chromosomes, with 10 instances of segmental duplication identified. Tissue-specific expression profiling demonstrated that 17 NbHECTs were constitutively expressed, with Group III members showing the highest expression in reproductive tissues. Following TYLCV infection, NbHECT6 was significantly downregulated while NbHECT13 was upregulated in both inoculated and systemic leaves. Functional validation through the VIGS approach revealed that suppression of NbHECT6 and NbHECT13 increased host susceptibility, as evidenced by exacerbated symptom severity and enhanced viral DNA accumulation compared to controls. Conclusions: These findings establish NbHECT6 and NbHECT13 as critical components of the plant antiviral response, providing new insights into ubiquitin-mediated defense mechanisms against geminiviruses. Full article
(This article belongs to the Section Plant Genetics and Genomics)
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10 pages, 1796 KB  
Article
Novel MAML2 Fusions in Human Malignancy
by Takefumi Komiya, Kieran Sweeney, Chao H. Huang, Anthony Crymes, Emmanuel S. Antonarakis, Andrew Elliott, Matthew J. Oberley and Mark G. Evans
Cancers 2025, 17(19), 3146; https://doi.org/10.3390/cancers17193146 - 27 Sep 2025
Viewed by 258
Abstract
Background: Oncogenic fusions of MAML2 with CRTC1, CRTC3, YAP1, and NR1D1 retain the MAML2 transactivating domain (TAD) and are believed to drive aberrant gene transcription. While the oncogenic roles of these known fusions have been established, we aimed to identify [...] Read more.
Background: Oncogenic fusions of MAML2 with CRTC1, CRTC3, YAP1, and NR1D1 retain the MAML2 transactivating domain (TAD) and are believed to drive aberrant gene transcription. While the oncogenic roles of these known fusions have been established, we aimed to identify novel MAML2 fusions across a range of human malignancies. Methods: DNA and RNA sequencing were performed on tumor samples submitted to Caris Life Sciences. MAML2 fusions were identified from RNA transcripts and filtered to include only known pathogenic fusions or recurrent, in-frame fusions containing a C-terminal MAML2 TAD. Fusion burden was defined as the number of unique fusion isoforms per sample. Results: Among 180,124 tumor samples, 143 specimens harbored MAML2 fusions with a MAML2 TAD: >50% of specimens harbored known fusions, but novel fusions with MTMR2 (31/143), SESN3 (11/143), CCDC82 (6/143), FAM76B (4/143), and ATXN3 (3/143) were also identified. Compared to the known fusions, the novel fusions generally had lower expressions (median: 8 vs. 13 junction reads/sample, p = 0.0064), higher fusion burdens (median: 6 vs. 2 unique fusion isoforms/sample, p < 0.0001), more frequent TP53 co-mutations (80% vs. 11.5%, p < 0.0001), and no clear association with the tissue of origin. Excluding ATXN3::MAML2, the novel fusion partners were located near MAML2 in the genome, likely arose from duplications or deletions, and occurred in samples harboring concurrent mutations. In contrast, ATXN3::MAML2 arose via interchromosomal translocation, occurred in samples with a low fusion burden, and was not associated with TP53 mutations. Conclusions: We identified novel MAML2 fusion partners, most of which likely represent passenger alterations, possibly arising from genomic instability or impaired p53 function. However, ATXN3::MAML2 fusions, previously reported in a pre-cancerous pancreatic disease case, may represent a pathogenic alteration warranting further investigation. Full article
(This article belongs to the Section Molecular Cancer Biology)
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14 pages, 3137 KB  
Article
Characterization and Phylogenetic Analysis of MADS-Box Gene Family in Magnoliids: Insights into the Evolution of Floral Morphogenesis in Angiosperms
by Haowei Chen, Haoyue Qu, Junmei Zhou, Junjie Pan, Zhoutao Wang, Liangsheng Zhang, Xiuxiu Li and Kejun Cheng
Plants 2025, 14(19), 2991; https://doi.org/10.3390/plants14192991 - 27 Sep 2025
Viewed by 295
Abstract
Magnoliids represent one of the most basal lineages within angiosperms, and their ancestral floral morphology provides crucial insights into the evolution of flowers in angiosperms. MCM1-AGAMOUS-DEFICIENS-SRF (MADS)-box transcription factors play crucial roles in specifying floral organs. To understand their evolutionary history and functional [...] Read more.
Magnoliids represent one of the most basal lineages within angiosperms, and their ancestral floral morphology provides crucial insights into the evolution of flowers in angiosperms. MCM1-AGAMOUS-DEFICIENS-SRF (MADS)-box transcription factors play crucial roles in specifying floral organs. To understand their evolutionary history and functional divergence in magnoliids, we identified MADS-box genes, and conducted phylogenetic and expression analysis in 33 magnoliids and 8 other angiosperm plants. A total of 1310 MADS-box genes were identified and classified into Type I and Type II. The expansion of MADS-box genes in magnoliids mainly arose from whole-genome duplication events. In Liriodendron chinensis and Chimonanthus praecox, we identified floral homeotic MADS-box genes that are orthologous to the ABCDE model genes of floral organ identity determination. The broad expression pattern of A and B genes in floral organs and overlapping activity of ABCDE-model genes are consistent with the “shifting−fading borders” scheme proposed in basally diverging angiosperm lineages. Our results not only elucidate the driving forces underlying the diversification of MADS-box genes in magnoliids, but also shed light on the evolutionary models of floral development in angiosperms. Full article
(This article belongs to the Special Issue Angiosperm Diversification and Phylogenetic Relationships)
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23 pages, 21367 KB  
Article
Genome-Wide Identification of MADS-box Family Genes and Analysis of Their Expression Patterns in the Common Oat (Avena sativa L.)
by Man Zhang, Chun-Long Wang, Yuan Jiang, Bo Feng, Hai-Xiao Dong, Hao Chen, Xue-Ying Li, Xiao-Hui Shan, Juan Tian, Wei-Wei Xu, Ya-Ping Yuan, Chang-Zhong Ren and Lai-Chun Guo
Agronomy 2025, 15(10), 2286; https://doi.org/10.3390/agronomy15102286 - 26 Sep 2025
Viewed by 269
Abstract
The MADS-box gene family is a large family of transcription factors, and its members are widely distributed in the plant kingdom. Members of this family are well known to be crucial regulators of many biological processes and environmental responses. In this study, bioinformatics [...] Read more.
The MADS-box gene family is a large family of transcription factors, and its members are widely distributed in the plant kingdom. Members of this family are well known to be crucial regulators of many biological processes and environmental responses. In this study, bioinformatics methods were employed to analyze the MADS-box gene family members in the common oat, focusing on their phylogenetic relationships, gene structures, conserved motifs, evolutionary relationships, promoter analysis and responses to photoperiod and abiotic stress. A total of 175 MADS-box genes were detected in Avena sativa, which were categorized into Type I and Type II. Type II members exhibited more complex gene structures, while each subfamily showed similar gene structures and motifs. Evolutionary analysis identified 138 segmental duplication events and revealed strong syntenic conservation with Triticum aestivum (337 collinear gene pairs). Four categories of cis-elements were detected in the promoter regions of the AsMADS-box genes. qRT-PCR analysis revealed that the expression of six Type II AsMADS-box genes varied in response to ABA, GA, drought and salt. Furthermore, 23 AsMADS-box members were potentially associated with heading date when the common oat plants were exposed to different photoperiod conditions. The overexpression of chr4D_AsMADS95 in Arabidopsis thaliana led to early flowering under long-day and short-day photoperiod conditions, likely associated with a significant increase in the expression levels of flowering-related genes in transgenic plants. These findings will provide useful information for future studies on stress responses and increase our understanding of the network that regulates flowering in the common oat. Full article
(This article belongs to the Section Crop Breeding and Genetics)
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Case Report
Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases
by Ekaterina O. Vorontsova, Aysylu Murtazina, Elena Zinina, Alexander V. Polyakov, Maria Sumina, Olga A. Rybakova, Dmitry Vlodavets, Dmitry Kazakov, Yulia Suvorova, Inna V. Sharkova, Nina A. Demina, Svetlana A. Repina, Vera A. Bulanova, Maria Antonova, Elena Dadali, Andrey V. Marakhonov, Nadezhda V. Shilova, Sergey I. Kutsev and Olga A. Shchagina
Int. J. Mol. Sci. 2025, 26(19), 9389; https://doi.org/10.3390/ijms26199389 - 25 Sep 2025
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Abstract
Duchenne muscular dystrophy (DMD) is typically described in boys with a pathogenic variant in the DMD. However, in certain cases, females may also exhibit symptoms of this X-linked disorder. In the present study, the cause of Duchenne muscular dystrophy in three girls [...] Read more.
Duchenne muscular dystrophy (DMD) is typically described in boys with a pathogenic variant in the DMD. However, in certain cases, females may also exhibit symptoms of this X-linked disorder. In the present study, the cause of Duchenne muscular dystrophy in three girls was reciprocal translocations t(X;2), t(X;12), and t(X;16), with breakpoints located within the DMD gene sequence. All patients had global development delay, predominantly proximal muscle weakness, calf muscle hypertrophy, and elevated creatine kinase levels up to 100 times the normal range (16,000–26,694 U/L). All underwent cardiac ultrasound and electromyography, and two of the girls also had muscle MRI data. After receiving negative results of MLPA aimed at the detection of DMD deletions and duplications, as well as the limb-girdle muscular dystrophy gene panel sequencing, the patients were referred to whole genome sequencing, which allowed to detect a translocation involving the short arm of the X chromosome and with breakpoints in the DMD. Karyotyping confirmed reciprocal translocations in all patients, with de novo status established in all three cases. The results of this study contribute to the understanding of clinical polymorphism and genetic heterogeneity of the disease, highlighting the importance of a comprehensive approach to genetic diagnostics in atypical cases. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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