Sinan Li, Shuai Hou, Yuanqing Sun, Minghao Sun, Yan Sun, Xin Li, Yunlong Li, Luyao Wang, Quan Cai, Baitao Guo, Jianguo Zhang
Background/Objectives: Abiotic stresses impose significant constraints on crop growth, development, and yield. However, the comprehensive characterization of the maize (Zea mays) lipoxygenase (LOX) gene family under stress conditions remains limited. LOXs play vital roles in plant stress responses by mediating lipid oxidation and signaling pathways. Methods: In this study, 13 ZmLOX genes were identified in maize and characterized to explore their functions under abiotic stresses. Results: Phylogenetics revealed that ZmLOX genes share evolutionary origins with LOX genes in Arabidopsis and rice. Promoter analysis identified cis-acting elements associated with growth, light response, hormone signaling, and stress response, indicating their diverse biological roles. Gene Ontology (GO) and KEGG enrichment analyses showed that ZmLOX genes are involved in jasmonic acid metabolism, lipid signaling, and photosynthetic processes, while protein-protein interaction (PPI) analysis positioned ZmLOX proteins as central hubs in stress-related regulatory networks. Differential expression and qRT-PCR analyses revealed stress-specific (including heat, drought, salt, and cold) expression patterns, with ZmLOX2 and ZmLOX13 showing key roles in drought and cold tolerance, respectively. Conclusions: These findings provide new insights into the regulatory functions of ZmLOX genes, offering potential targets for enhancing maize resilience to abiotic stresses and improving agricultural productivity.
{"title":"Genome-Wide Identification and Expression Analysis Under Abiotic Stress of the <i>Lipoxygenase</i> Gene Family in Maize (<i>Zea mays</i>).","authors":"Sinan Li, Shuai Hou, Yuanqing Sun, Minghao Sun, Yan Sun, Xin Li, Yunlong Li, Luyao Wang, Quan Cai, Baitao Guo, Jianguo Zhang","doi":"10.3390/genes16010099","DOIUrl":"10.3390/genes16010099","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Abiotic stresses impose significant constraints on crop growth, development, and yield. However, the comprehensive characterization of the maize (<i>Zea mays</i>) <i>lipoxygenase</i> (<i>LOX</i>) gene family under stress conditions remains limited. LOXs play vital roles in plant stress responses by mediating lipid oxidation and signaling pathways. <b>Methods:</b> In this study, 13 <i>ZmLOX</i> genes were identified in maize and characterized to explore their functions under abiotic stresses. <b>Results:</b> Phylogenetics revealed that <i>ZmLOX</i> genes share evolutionary origins with <i>LOX</i> genes in Arabidopsis and rice. Promoter analysis identified <i>cis</i>-acting elements associated with growth, light response, hormone signaling, and stress response, indicating their diverse biological roles. Gene Ontology (GO) and KEGG enrichment analyses showed that <i>ZmLOX</i> genes are involved in jasmonic acid metabolism, lipid signaling, and photosynthetic processes, while protein-protein interaction (PPI) analysis positioned ZmLOX proteins as central hubs in stress-related regulatory networks. Differential expression and qRT-PCR analyses revealed stress-specific (including heat, drought, salt, and cold) expression patterns, with <i>ZmLOX2</i> and <i>ZmLOX13</i> showing key roles in drought and cold tolerance, respectively. <b>Conclusions:</b> These findings provide new insights into the regulatory functions of <i>ZmLOX</i> genes, offering potential targets for enhancing maize resilience to abiotic stresses and improving agricultural productivity.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037950","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}
Mikołaj Danielewski, Marlena Szalata, Jan Krzysztof Nowak, Jarosław Walkowiak, Ryszard Słomski, Karolina Wielgus
With the development of genome sequencing technologies, the amount of data produced has greatly increased in the last two decades. The abundance of digital sequence information (DSI) has provided research opportunities, improved our understanding of the genome, and led to the discovery of new solutions in industry and medicine. It has also posed certain challenges, i.e., how to store and handle such amounts of data. This, coupled with the need for convenience, international cooperation, and the possibility of independent validation, has led to the establishment of numerous databases. Spearheaded with the idea that data obtained with public funds should be available to the public, open access has become the predominant mode of accession. However, the increasing popularity of commercial genetic tests brings back the topic of data misuse, and patient's privacy. At the previous United Nations Biodiversity Conference (COP15, 2022), an issue of the least-developed countries exploiting their natural resources while providing DSI and the most-developed countries benefitting from this was raised. It has been proposed that financial renumeration for the data could help protect biodiversity. With the goal of introducing the topic to those interested in utilizing biological databases, in this publication, we present the history behind the biological databases, their necessity in today's scientific world, and the issues that concern them and their content, while providing scientific and policy context in relation to United Nations Biodiversity Conference (COP16, 21.10-1.11.24).
{"title":"History of Biological Databases, Their Importance, and Existence in Modern Scientific and Policy Context.","authors":"Mikołaj Danielewski, Marlena Szalata, Jan Krzysztof Nowak, Jarosław Walkowiak, Ryszard Słomski, Karolina Wielgus","doi":"10.3390/genes16010100","DOIUrl":"10.3390/genes16010100","url":null,"abstract":"<p><p>With the development of genome sequencing technologies, the amount of data produced has greatly increased in the last two decades. The abundance of digital sequence information (DSI) has provided research opportunities, improved our understanding of the genome, and led to the discovery of new solutions in industry and medicine. It has also posed certain challenges, i.e., how to store and handle such amounts of data. This, coupled with the need for convenience, international cooperation, and the possibility of independent validation, has led to the establishment of numerous databases. Spearheaded with the idea that data obtained with public funds should be available to the public, open access has become the predominant mode of accession. However, the increasing popularity of commercial genetic tests brings back the topic of data misuse, and patient's privacy. At the previous United Nations Biodiversity Conference (COP15, 2022), an issue of the least-developed countries exploiting their natural resources while providing DSI and the most-developed countries benefitting from this was raised. It has been proposed that financial renumeration for the data could help protect biodiversity. With the goal of introducing the topic to those interested in utilizing biological databases, in this publication, we present the history behind the biological databases, their necessity in today's scientific world, and the issues that concern them and their content, while providing scientific and policy context in relation to United Nations Biodiversity Conference (COP16, 21.10-1.11.24).</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038049","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}
Aris Kaltsas, Eleftheria Markou, Maria-Anna Kyrgiafini, Athanasios Zikopoulos, Evangelos N Symeonidis, Fotios Dimitriadis, Athanasios Zachariou, Nikolaos Sofikitis, Michael Chrisofos
Male reproductive health is governed by an intricate interplay of genetic, epigenetic, and environmental factors. Epigenetic mechanisms-encompassing DNA methylation, histone modifications, and non-coding RNA activity-are crucial both for spermatogenesis and sperm maturation. However, oxidative stress, driven by excessive reactive oxygen species, disrupts these processes, leading to impaired sperm function and male infertility. This disruption extends to epigenetic modifications, resulting in abnormal gene expression and chromatin remodeling that compromise genomic integrity and fertilization potential. Importantly, oxidative-stress-induced epigenetic alterations can be inherited, affecting the health and fertility of offspring and future generations. This review investigates how oxidative stress influences epigenetic regulation in male reproduction by modifying DNA methylation, histone modifications, and non-coding RNAs, ultimately compromising spermatogenesis. Additionally, it discusses the transgenerational implications of these epigenetic disruptions and their potential role in hereditary infertility and disease predisposition. Understanding these mechanisms is vital for developing therapeutic strategies that mitigate oxidative damage and restore epigenetic homeostasis in the male germline. By integrating insights from molecular, clinical, and transgenerational research, this work emphasizes the need for targeted interventions to enhance male reproductive health and prevent adverse outcomes in progeny. Furthermore, elucidating the dose-response relationships between oxidative stress and epigenetic changes remains a critical research priority, informing personalized diagnostics and therapeutic interventions. In this context, future studies should adopt standardized markers of oxidative damage, robust clinical trials, and multi-omic approaches to capture the complexity of epigenetic regulation in spermatogenesis. Such rigorous investigations will ultimately reduce the risk of transgenerational disorders and optimize reproductive health outcomes.
{"title":"Oxidative-Stress-Mediated Epigenetic Dysregulation in Spermatogenesis: Implications for Male Infertility and Offspring Health.","authors":"Aris Kaltsas, Eleftheria Markou, Maria-Anna Kyrgiafini, Athanasios Zikopoulos, Evangelos N Symeonidis, Fotios Dimitriadis, Athanasios Zachariou, Nikolaos Sofikitis, Michael Chrisofos","doi":"10.3390/genes16010093","DOIUrl":"10.3390/genes16010093","url":null,"abstract":"<p><p>Male reproductive health is governed by an intricate interplay of genetic, epigenetic, and environmental factors. Epigenetic mechanisms-encompassing DNA methylation, histone modifications, and non-coding RNA activity-are crucial both for spermatogenesis and sperm maturation. However, oxidative stress, driven by excessive reactive oxygen species, disrupts these processes, leading to impaired sperm function and male infertility. This disruption extends to epigenetic modifications, resulting in abnormal gene expression and chromatin remodeling that compromise genomic integrity and fertilization potential. Importantly, oxidative-stress-induced epigenetic alterations can be inherited, affecting the health and fertility of offspring and future generations. This review investigates how oxidative stress influences epigenetic regulation in male reproduction by modifying DNA methylation, histone modifications, and non-coding RNAs, ultimately compromising spermatogenesis. Additionally, it discusses the transgenerational implications of these epigenetic disruptions and their potential role in hereditary infertility and disease predisposition. Understanding these mechanisms is vital for developing therapeutic strategies that mitigate oxidative damage and restore epigenetic homeostasis in the male germline. By integrating insights from molecular, clinical, and transgenerational research, this work emphasizes the need for targeted interventions to enhance male reproductive health and prevent adverse outcomes in progeny. Furthermore, elucidating the dose-response relationships between oxidative stress and epigenetic changes remains a critical research priority, informing personalized diagnostics and therapeutic interventions. In this context, future studies should adopt standardized markers of oxidative damage, robust clinical trials, and multi-omic approaches to capture the complexity of epigenetic regulation in spermatogenesis. Such rigorous investigations will ultimately reduce the risk of transgenerational disorders and optimize reproductive health outcomes.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765119/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037655","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}
Background: Leaves are the main organs involved in photosynthesis. They capture light energy and promote gas exchange, and their size and shape affect yield. Identifying the regulatory networks and key genes that control citrus leaf size is essential for increasing citrus crop yield.
Methods: In this study, transcriptome sequencing was performed on three leaf materials: the 'Cuimi' kumquat (Nor) variety and its leaf variants, larger-leaf (VarB) and smaller-leaf (VarS) varieties.
Results: Correlation and principal component analyses revealed a relatively close correlation between Nor and VarS. A total of 7264 differentially expressed genes (DEGs), including 2374 transcription factors (TFs), were identified, and 254 DEGs were common among the three materials. GO and KEGG enrichment analyses revealed significant enrichment in glucose metabolism, cell wall composition, starch biosynthesis, and photosynthesis pathways. WGCNA identified three specific modules related to the different leaf sizes of these three citrus materials. Fifteen candidate genes related to leaf size, including three transcription factors, Fh5g30470 (MYB), Fh7g07360 (AP2/ERF), and Fh5g02470 (SAP), were identified on the basis of connectivity and functional annotations.
Conclusions: These findings provide a theoretical foundation for a deeper understanding of the molecular mechanisms underlying citrus leaf size and offer new genetic resources for the study of citrus leaf size.
{"title":"Identification and Functional Analysis of Candidate Genes Influencing Citrus Leaf Size Through Transcriptome and Coexpression Network Approaches.","authors":"Xiaoxiao Wu, Yuanhui Xiao, Ping Liu, Qiuling Pang, Chongling Deng, Cuina Fu, Haimeng Fang, Chuanwu Chen","doi":"10.3390/genes16010097","DOIUrl":"10.3390/genes16010097","url":null,"abstract":"<p><strong>Background: </strong>Leaves are the main organs involved in photosynthesis. They capture light energy and promote gas exchange, and their size and shape affect yield. Identifying the regulatory networks and key genes that control citrus leaf size is essential for increasing citrus crop yield.</p><p><strong>Methods: </strong>In this study, transcriptome sequencing was performed on three leaf materials: the 'Cuimi' kumquat (Nor) variety and its leaf variants, larger-leaf (VarB) and smaller-leaf (VarS) varieties.</p><p><strong>Results: </strong>Correlation and principal component analyses revealed a relatively close correlation between Nor and VarS. A total of 7264 differentially expressed genes (DEGs), including 2374 transcription factors (TFs), were identified, and 254 DEGs were common among the three materials. GO and KEGG enrichment analyses revealed significant enrichment in glucose metabolism, cell wall composition, starch biosynthesis, and photosynthesis pathways. WGCNA identified three specific modules related to the different leaf sizes of these three citrus materials. Fifteen candidate genes related to leaf size, including three transcription factors, <i>Fh5g30470</i> (MYB), <i>Fh7g07360</i> (AP2/ERF), and <i>Fh5g02470</i> (SAP), were identified on the basis of connectivity and functional annotations.</p><p><strong>Conclusions: </strong>These findings provide a theoretical foundation for a deeper understanding of the molecular mechanisms underlying citrus leaf size and offer new genetic resources for the study of citrus leaf size.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038056","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}
Background: Casein kinase I protein Hrr25 plays important roles in many cellular processes, including autophagy, vesicular trafficking, ribosome biogenesis, mitochondrial biogenesis, and the DNA damage response in Saccharomyces cerevisiae. Pin4 is a multi-phosphorylated protein that has been reported to be involved in the cell wall integrity (CWI) pathway and DNA damage response. Pin4 was reported to interact with Hrr25 in yeast two-hybrid and large-scale pulldown assays.
Methods/objectives: Co-immunoprecipitation and yeast two-hybrid assays were utilized to confirm whether Pin4 and Hrr25 interact and to determine how they interact. Genetic interaction analysis was conducted to examine whether hrr25 mutations form synthetic growth defects with mutations in genes involved in CWI signaling. Immunoblotting was used to determine whether Hrr25 phosphorylates Pin4.
Results: We show that Hrr25 interacts with Pin4 and is required for Pin4 phosphorylation. pin4 mutations result in synthetic slow-growth phenotypes with mutations in genes encoding Bck1 and Slt2, two of the protein kinases in the MAP kinase cascade that regulates CWI in the budding yeast. We show that hrr25 mutations result in similar phenotypes to pin4 mutations. Hrr25 consists of an N-terminal kinase domain, a middle region, and a C-terminal proline/glutamine-rich domain. The function of the C-terminal P/Q-rich domain of Hrr25 has been elusive. We found that the C-terminal region of Hrr25 is required both for Pin4 interaction and CWI.
Conclusions: Our data suggest that Hrr25 is implicated in cell wall integrity signaling via its association with Pin4.
{"title":"Casein Kinase I Protein Hrr25 Is Required for Pin4 Phosphorylation and Mediates Cell Wall Integrity Signaling in <i>Saccharomyces cerevisiae</i>.","authors":"Amita Bhattarai, Manika Bhondeley, Zhengchang Liu","doi":"10.3390/genes16010094","DOIUrl":"https://doi.org/10.3390/genes16010094","url":null,"abstract":"<p><strong>Background: </strong>Casein kinase I protein Hrr25 plays important roles in many cellular processes, including autophagy, vesicular trafficking, ribosome biogenesis, mitochondrial biogenesis, and the DNA damage response in <i>Saccharomyces cerevisiae</i>. Pin4 is a multi-phosphorylated protein that has been reported to be involved in the cell wall integrity (CWI) pathway and DNA damage response. Pin4 was reported to interact with Hrr25 in yeast two-hybrid and large-scale pulldown assays.</p><p><strong>Methods/objectives: </strong>Co-immunoprecipitation and yeast two-hybrid assays were utilized to confirm whether Pin4 and Hrr25 interact and to determine how they interact. Genetic interaction analysis was conducted to examine whether <i>hrr25</i> mutations form synthetic growth defects with mutations in genes involved in CWI signaling. Immunoblotting was used to determine whether Hrr25 phosphorylates Pin4.</p><p><strong>Results: </strong>We show that Hrr25 interacts with Pin4 and is required for Pin4 phosphorylation. <i>pin4</i> mutations result in synthetic slow-growth phenotypes with mutations in genes encoding Bck1 and Slt2, two of the protein kinases in the MAP kinase cascade that regulates CWI in the budding yeast. We show that <i>hrr25</i> mutations result in similar phenotypes to <i>pin4</i> mutations. Hrr25 consists of an N-terminal kinase domain, a middle region, and a C-terminal proline/glutamine-rich domain. The function of the C-terminal P/Q-rich domain of Hrr25 has been elusive. We found that the C-terminal region of Hrr25 is required both for Pin4 interaction and CWI.</p><p><strong>Conclusions: </strong>Our data suggest that Hrr25 is implicated in cell wall integrity signaling via its association with Pin4.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058784","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}
Background: The passion fruit (Passiflora edulis Sims) is a diploid plant (2n = 2x = 18) and is a perennial scrambling vine in Southern China. However, the occurrence and spread of stem rot in passion fruit severely impact its yield and quality.
Methods: In this study, we re-sequenced a BC1F1 population consisting of 158 individuals using whole-genome resequencing. We constructed a high-density genetic linkage map and identified the quantitative trait locus (QTL), and analyzed candidate genes associated with stem rot resistance in passion fruit.
Results: Based on the passion fruit reference genome (MER), a high-density genetic linkage map was constructed with 1,180,406 single nucleotide polymorphisms (SNPs). The map contains nine linkage groups, covering a total genetic distance of 1559.03 cM, with an average genetic distance of 311.81 cM. The average genetic distance between 4206 bins was 0.404 cM, and the average gap length was 10.565 cM. The collinearity correlation coefficient between the genetic map and the passion fruit genome was 0.9994. Fusarium solani was used to infect the BC1F1 population, and the resistance to stem rot showed a continuous distribution. A QTL, qPSR5, was mapped to the 113,377,860 bp-114,811,870 bp genomic region on chromosome 5. We performed RNA sequencing (RNA-seq) and real-time quantitative polymerase chain reaction (RT-qPCR) to analyze the expression levels of predicted genes in the candidate region and identified ZX.05G0020740 and ZX.05G0020810 as ideal candidate genes for stem rot resistance in passion fruit.
Conclusions: The findings in this study not only lay the foundation for cloning the qPSR5 responsible for stem rot resistance but also provide genetic resources for the genetic improvement of passion fruit.
{"title":"Construction of a High-Density Genetic Linkage Map and QTL Mapping for Stem Rot Resistance in Passion Fruit (<i>Passiflora edulis</i> Sims).","authors":"Yanyan Wu, Weihua Huang, Jieyun Liu, Junniu Zhou, Qinglan Tian, Xiuzhong Xia, Haifei Mou, Xinghai Yang","doi":"10.3390/genes16010096","DOIUrl":"10.3390/genes16010096","url":null,"abstract":"<p><strong>Background: </strong>The passion fruit (<i>Passiflora edulis</i> Sims) is a diploid plant (2n = 2x = 18) and is a perennial scrambling vine in Southern China. However, the occurrence and spread of stem rot in passion fruit severely impact its yield and quality.</p><p><strong>Methods: </strong>In this study, we re-sequenced a BC<sub>1</sub>F<sub>1</sub> population consisting of 158 individuals using whole-genome resequencing. We constructed a high-density genetic linkage map and identified the quantitative trait locus (QTL), and analyzed candidate genes associated with stem rot resistance in passion fruit.</p><p><strong>Results: </strong>Based on the passion fruit reference genome (MER), a high-density genetic linkage map was constructed with 1,180,406 single nucleotide polymorphisms (SNPs). The map contains nine linkage groups, covering a total genetic distance of 1559.03 cM, with an average genetic distance of 311.81 cM. The average genetic distance between 4206 bins was 0.404 cM, and the average gap length was 10.565 cM. The collinearity correlation coefficient between the genetic map and the passion fruit genome was 0.9994. <i>Fusarium solani</i> was used to infect the BC<sub>1</sub>F<sub>1</sub> population, and the resistance to stem rot showed a continuous distribution. A QTL, <i>qPSR5</i>, was mapped to the 113,377,860 bp-114,811,870 bp genomic region on chromosome 5. We performed RNA sequencing (RNA-seq) and real-time quantitative polymerase chain reaction (RT-qPCR) to analyze the expression levels of predicted genes in the candidate region and identified <i>ZX.05G0020740</i> and <i>ZX.05G0020810</i> as ideal candidate genes for stem rot resistance in passion fruit.</p><p><strong>Conclusions: </strong>The findings in this study not only lay the foundation for cloning the <i>qPSR5</i> responsible for stem rot resistance but also provide genetic resources for the genetic improvement of passion fruit.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765416/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037910","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}
Federico Sincinelli, Shraddha Shridhar Gaonkar, Sri Amarnadh Gupta Tondepu, Conrado Jr Dueñas, Andrea Pagano
DNA damage response (DDR) contributes to seed quality by guarding genome integrity in the delicate phases of pre- and post-germination. As a key determinant of stress tolerance and resilience, DDR has notable implications on the wider scale of the agroecosystems challenged by harsh climatic events. The present review focuses on the existing and documented links that interconnect DDR efficiency with an array of molecular hallmarks with biochemical, molecular, and physiological valence within the seed metabolic networks. The expression of genes encoding DDR sensors, transducers, mediators, and effectors is interpreted as a source of conserved hallmarks, along with markers of oxidative damage reflecting the seed's ability to germinate. Similarly, the accumulation patterns of proteins and metabolites that contribute to DNA stability are predictive of seed quality traits. While a list of candidates is presented from multiple models and crop species, their interaction with chromatin dynamics, cell cycle progression, and hormonal regulation provides further levels of analysis to investigate the seed stress response holistically. The identification of novel hallmarks of DDR in seeds constitutes a framework to prompt validation with different experimental systems, to refine the current models of pre-germinative metabolism, and to promote targeted approaches for seed quality evaluation.
{"title":"Hallmarks of DNA Damage Response in Germination Across Model and Crop Species.","authors":"Federico Sincinelli, Shraddha Shridhar Gaonkar, Sri Amarnadh Gupta Tondepu, Conrado Jr Dueñas, Andrea Pagano","doi":"10.3390/genes16010095","DOIUrl":"10.3390/genes16010095","url":null,"abstract":"<p><p>DNA damage response (DDR) contributes to seed quality by guarding genome integrity in the delicate phases of pre- and post-germination. As a key determinant of stress tolerance and resilience, DDR has notable implications on the wider scale of the agroecosystems challenged by harsh climatic events. The present review focuses on the existing and documented links that interconnect DDR efficiency with an array of molecular hallmarks with biochemical, molecular, and physiological valence within the seed metabolic networks. The expression of genes encoding DDR sensors, transducers, mediators, and effectors is interpreted as a source of conserved hallmarks, along with markers of oxidative damage reflecting the seed's ability to germinate. Similarly, the accumulation patterns of proteins and metabolites that contribute to DNA stability are predictive of seed quality traits. While a list of candidates is presented from multiple models and crop species, their interaction with chromatin dynamics, cell cycle progression, and hormonal regulation provides further levels of analysis to investigate the seed stress response holistically. The identification of novel hallmarks of DDR in seeds constitutes a framework to prompt validation with different experimental systems, to refine the current models of pre-germinative metabolism, and to promote targeted approaches for seed quality evaluation.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11764568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038090","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}
Gianmarco Castillo, Sergio Eduardo Contreras-Liza, Carlos I Arbizu, Pedro Manuel Rodriguez-Grados
Bioremediation induced by bacteria offers a promising alternative for the contamination of aromatic hydrocarbons due to their metabolic processes suitable for the removal of these pollutants, as many of them are carcinogenic molecules and dangerous to human health. Our research focused on isolating a bacterium from the rhizosphere of the tara tree with the ability to degrade polycyclic aromatic hydrocarbons, using draft genomic sequencing and computational analysis. Enterobacter sp. strain UNJFSC 003 possesses 4460 protein-coding genes, two rRNA genes, 77 tRNA genes, and a GC content of 54.38%. A taxonomic analysis of our strain revealed that it has an average nucleotide identity (ANI) of 87.8%, indicating that it is a new native Enterobacteria. Additionally, a pangenomic analysis with 15 strains demonstrated that our strain has a phylogenetic relationship with strain FDAARGOS 1428 (Enterobacter cancerogenus), with a total of 381 core genes and 4778 accessory genes. Orthologous methods predicted that strain UNJFSC 003 possesses genes with potential for use in hydrocarbon bioremediation. Genes were predicted in the sub-pathways for the degradation of homoprotocatechuate and phenylacetate, primarily located in the cytoplasm. Studies conducted through molecular modeling and docking revealed the affinity of the predicted proteins in the degradation of benzo[a]pyrene in the homoprotocatechuate sub-pathway, specifically hpcB, which has enzymatic activity as a dioxygenase, and hpcC, which functions as an aldehyde dehydrogenase. This study provides information on native strains from Lomas de Lachay with capabilities for the bioremediation of aromatic hydrocarbons and other compounds.
{"title":"Genome Sequencing Reveals the Potential of <i>Enterobacter</i> sp. Strain UNJFSC003 for Hydrocarbon Bioremediation.","authors":"Gianmarco Castillo, Sergio Eduardo Contreras-Liza, Carlos I Arbizu, Pedro Manuel Rodriguez-Grados","doi":"10.3390/genes16010089","DOIUrl":"10.3390/genes16010089","url":null,"abstract":"<p><p>Bioremediation induced by bacteria offers a promising alternative for the contamination of aromatic hydrocarbons due to their metabolic processes suitable for the removal of these pollutants, as many of them are carcinogenic molecules and dangerous to human health. Our research focused on isolating a bacterium from the rhizosphere of the tara tree with the ability to degrade polycyclic aromatic hydrocarbons, using draft genomic sequencing and computational analysis. <i>Enterobacter</i> sp. strain UNJFSC 003 possesses 4460 protein-coding genes, two rRNA genes, 77 tRNA genes, and a GC content of 54.38%. A taxonomic analysis of our strain revealed that it has an average nucleotide identity (ANI) of 87.8%, indicating that it is a new native Enterobacteria. Additionally, a pangenomic analysis with 15 strains demonstrated that our strain has a phylogenetic relationship with strain FDAARGOS 1428 (<i>Enterobacter cancerogenus</i>), with a total of 381 core genes and 4778 accessory genes. Orthologous methods predicted that strain UNJFSC 003 possesses genes with potential for use in hydrocarbon bioremediation. Genes were predicted in the sub-pathways for the degradation of homoprotocatechuate and phenylacetate, primarily located in the cytoplasm. Studies conducted through molecular modeling and docking revealed the affinity of the predicted proteins in the degradation of benzo[a]pyrene in the homoprotocatechuate sub-pathway, specifically hpcB, which has enzymatic activity as a dioxygenase, and hpcC, which functions as an aldehyde dehydrogenase. This study provides information on native strains from Lomas de Lachay with capabilities for the bioremediation of aromatic hydrocarbons and other compounds.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038016","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}
Yongying Zhao, Xianlin Zhao, Zhiguo Xiang, Dan Zhang, Hongshan Yang
Background: The low molecular weight glutenin subunits (LMW-GS) of wheat have great effects on food processing quality, but the resolution of LMW-GS and the scoring of their alleles by direct analysis of proteins are difficult due to the larger number of expressed subunits and high similarity of DNA sequences. It is important to identify and classify the LMW-GS genes in order to recognize the LMW-GS alleles clearly and develop the functional markers.
Methods: The LMW-GS genes registered in GenBank were searched at NCBI, and 593 Glu-3 genes with complete coding sequences were obtained, including 146 Glu-A3, 136 Glu-B3, and 311 Glu-D3. Sequence analysis and characterization of DNA and deduced amino acids were performed using the software DNAman.
Results: The alignment and classification showed that there were at least 9 genes with 69 allelic variants at the Glu-A3 locus, 11 genes with 64 allelic variants at the Glu-B3 locus, and 10 genes with 96 variants at the Glu-D3 locus, respectively. Furthermore, the specificity of some Glu-3 genes and their variations was analyzed.
Conclusions: The results were beneficial to understanding the LMW-GS genes fully and to developing the functional markers and will provide a theoretical reference for the quality improvement of wheat variety.
{"title":"Comparison and Classification of LMW-GS Genes at <i>Glu-3</i> Loci of Common Wheat.","authors":"Yongying Zhao, Xianlin Zhao, Zhiguo Xiang, Dan Zhang, Hongshan Yang","doi":"10.3390/genes16010090","DOIUrl":"10.3390/genes16010090","url":null,"abstract":"<p><strong>Background: </strong>The low molecular weight glutenin subunits (LMW-GS) of wheat have great effects on food processing quality, but the resolution of LMW-GS and the scoring of their alleles by direct analysis of proteins are difficult due to the larger number of expressed subunits and high similarity of DNA sequences. It is important to identify and classify the LMW-GS genes in order to recognize the LMW-GS alleles clearly and develop the functional markers.</p><p><strong>Methods: </strong>The LMW-GS genes registered in GenBank were searched at NCBI, and 593 <i>Glu-3</i> genes with complete coding sequences were obtained, including 146 <i>Glu-A3</i>, 136 <i>Glu-B3</i>, and 311 <i>Glu-D3</i>. Sequence analysis and characterization of DNA and deduced amino acids were performed using the software DNAman.</p><p><strong>Results: </strong>The alignment and classification showed that there were at least 9 genes with 69 allelic variants at the <i>Glu-A3</i> locus, 11 genes with 64 allelic variants at the <i>Glu-B3</i> locus, and 10 genes with 96 variants at the <i>Glu-D3</i> locus, respectively. Furthermore, the specificity of some <i>Glu-3</i> genes and their variations was analyzed.</p><p><strong>Conclusions: </strong>The results were beneficial to understanding the LMW-GS genes fully and to developing the functional markers and will provide a theoretical reference for the quality improvement of wheat variety.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037818","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}
Olivia A Zin, Luiza M Neves, Fabiana L Motta, Daltro C Junior, Daniela P Cunha, Bruna N S Agonigi, Jocieli Malacarne, Ana Paula S Rodrigues, Gabriela D Rodrigues, Maria Luisa C Tinoco, Dafne D G Horovitz, Adriana B Carvalho, Andrea A Zin, Zilton F M Vasconcelos, Juliana M Ferraz Sallum
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature. The objective of this case report is to describe a novel variant in NHS, as well as to discuss genotype-phenotype correlations.
Methods: Whole-exome sequencing was performed in 3 affected individuals (2 males and 1 female) with pediatric cataracts from the same family, as well as in 2 unaffected members from the same family. Ophthalmological and clinical genetic evaluations were conducted.
Results: The likely pathogenic variant c.3333del (p.Phe1111Leufs*9) was found in all affected individuals, as well as in one unaffected female family member. Our family was initially diagnosed with isolated hereditary cataracts, but only after the sequencing results was the phenotype revealed, with the systemic features being identified.
Conclusions: This reinforces the importance of genetic testing of bilateral familial pediatric cataracts, especially since systemic features such as dental anomalies and intellectual disability may take years before they develop. Not only did genetic testing help to identify extraocular features, but it also made possible accurate family counseling essential in all pediatric cataract cases.
{"title":"Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.","authors":"Olivia A Zin, Luiza M Neves, Fabiana L Motta, Daltro C Junior, Daniela P Cunha, Bruna N S Agonigi, Jocieli Malacarne, Ana Paula S Rodrigues, Gabriela D Rodrigues, Maria Luisa C Tinoco, Dafne D G Horovitz, Adriana B Carvalho, Andrea A Zin, Zilton F M Vasconcelos, Juliana M Ferraz Sallum","doi":"10.3390/genes16010091","DOIUrl":"https://doi.org/10.3390/genes16010091","url":null,"abstract":"<p><strong>Background: </strong>Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature. The objective of this case report is to describe a novel variant in NHS, as well as to discuss genotype-phenotype correlations.</p><p><strong>Methods: </strong>Whole-exome sequencing was performed in 3 affected individuals (2 males and 1 female) with pediatric cataracts from the same family, as well as in 2 unaffected members from the same family. Ophthalmological and clinical genetic evaluations were conducted.</p><p><strong>Results: </strong>The likely pathogenic variant c.3333del (p.Phe1111Leufs*9) was found in all affected individuals, as well as in one unaffected female family member. Our family was initially diagnosed with isolated hereditary cataracts, but only after the sequencing results was the phenotype revealed, with the systemic features being identified.</p><p><strong>Conclusions: </strong>This reinforces the importance of genetic testing of bilateral familial pediatric cataracts, especially since systemic features such as dental anomalies and intellectual disability may take years before they develop. Not only did genetic testing help to identify extraocular features, but it also made possible accurate family counseling essential in all pediatric cataract cases.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 1","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11765327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058785","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}