Yuhan Liu, Huiman Tian, Shaoqiu Ren, Xiulin Chen, Kun Luo, Guangwei Li, Boliao Li
Background/objectives: miRNAs are a family of single-stranded non-coding RNAs that regulate gene expression by targeting messenger RNAs (mRNAs) for suppression, with an average length of 22 nt. The oriental armyworm, Mythimna separata Walker, is a pest insect with long-distance migratory capability, which causes severe loss of grains and pastures in Eastern Asia, Southeastern Asia, and Oceania. This study aims to elucidate the post-transcriptional regulatory mechanisms of miRNAs in the development of this pest.
Methods: We carried out small RNA sequencing on samples from eggs, third instar larvae, pre-pupae, pupae, and adults.
Results: A total of 400 miRNAs were identified, among which 40 were known and 360 were novel miRNAs. Dynamic trend analysis of miRNAs revealed that 199 miRNAs were highly expressed in eggs (profile 12), while 173 miRNAs were highly expressed in both eggs and pupae (profile 13). The results of differential expression analysis of miRNAs (DEmiR) revealed that 75 miRNAs were significantly more abundant in eggs compared to other developmental stages. Furthermore, more up-regulated miRNAs were observed than down-regulated miRNAs in adults relative to 3rd instar larvae, pre-pupae, and pupae. The core genes for miRNA biosynthesis-Pasha, Dicer1, and Ago1-were highly expressed in eggs but poorly expressed in 3rd instar larvae. KEGG enrichment analyses indicated that several genes in the pentose and glucuronate interconversion pathway, as well as the fructose and mannose metabolism pathway, were regulated by DEmiRs.
Conclusions: DEmiRNAs targeted most genes of M. separata, resulting in a complex miRNA-mRNA regulation mode.
{"title":"Developmental Expression Patterns of miRNA in <i>Mythimna separata</i> Walker (Lepidotera: Noctuidae).","authors":"Yuhan Liu, Huiman Tian, Shaoqiu Ren, Xiulin Chen, Kun Luo, Guangwei Li, Boliao Li","doi":"10.3390/genes16020234","DOIUrl":"10.3390/genes16020234","url":null,"abstract":"<p><strong>Background/objectives: </strong>miRNAs are a family of single-stranded non-coding RNAs that regulate gene expression by targeting messenger RNAs (mRNAs) for suppression, with an average length of 22 nt. The oriental armyworm, <i>Mythimna separata</i> Walker, is a pest insect with long-distance migratory capability, which causes severe loss of grains and pastures in Eastern Asia, Southeastern Asia, and Oceania. This study aims to elucidate the post-transcriptional regulatory mechanisms of miRNAs in the development of this pest.</p><p><strong>Methods: </strong>We carried out small RNA sequencing on samples from eggs, third instar larvae, pre-pupae, pupae, and adults.</p><p><strong>Results: </strong>A total of 400 miRNAs were identified, among which 40 were known and 360 were novel miRNAs. Dynamic trend analysis of miRNAs revealed that 199 miRNAs were highly expressed in eggs (profile 12), while 173 miRNAs were highly expressed in both eggs and pupae (profile 13). The results of differential expression analysis of miRNAs (DEmiR) revealed that 75 miRNAs were significantly more abundant in eggs compared to other developmental stages. Furthermore, more up-regulated miRNAs were observed than down-regulated miRNAs in adults relative to 3rd instar larvae, pre-pupae, and pupae. The core genes for miRNA biosynthesis-<i>Pasha</i>, <i>Dicer1</i>, and <i>Ago1</i>-were highly expressed in eggs but poorly expressed in 3rd instar larvae. KEGG enrichment analyses indicated that several genes in the pentose and glucuronate interconversion pathway, as well as the fructose and mannose metabolism pathway, were regulated by DEmiRs.</p><p><strong>Conclusions: </strong>DEmiRNAs targeted most genes of <i>M. separata</i>, resulting in a complex miRNA-mRNA regulation mode.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500614","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/Objectives: Sterol regulatory element-binding transcription factor 2 (SREBF2) is a key transcription factor involved in regulating cholesterol homeostasis. However, its role in buffalo mammary gland lipid metabolism remains unclear. Methods: To address this, we isolated and characterized the SREBF2 gene from buffalo mammary glands and performed an in-depth analysis of its molecular characteristics, tissue-specific expression, and functional roles in buffalo mammary epithelial cells (BuMECs). Additionally, we investigated the single nucleotide polymorphisms (SNPs) of SREBF2 in both river and swamp buffalo. Results: The coding sequence (CDS) of buffalo SREBF2 is 3327 bp long and encodes a protein of 1108 amino acid residues. Bioinformatics analysis revealed that the molecular characteristics of buffalo SREBF2 were highly similar across Bovidae species, with collinearity being observed among them. An expression profile analysis revealed that SREBF2 is expressed in all 11 tested tissues of buffalo, with its expression level in the mammary gland being higher during lactation than in the dry period. The knockdown of SREBF2 in BuMECs during lactation led to a significant reduction in the expression of genes involved in triglyceride (TAG) and cholesterol synthesis, including PI3K, AKT, mTOR, SREBF1, PPARG, INSIG1, ACACA, SCD, DGAT1, LPL, CD36, HMGCR, and SQLE. This knockdown led to a 23.53% and 94.56% reduction in TAG and cholesterol levels in BuMECs, respectively. In addition, a total of 22 SNPs were identified in both buffalo types, of which four non-synonymous substitutions (c.301G>C, c.304A>T, c.1240G>A, and c.2944G>A) were found exclusively in the SREBF2 CDS of swamp buffalo, and the assessment revealed that these substitutions had no impact on SREBF2 function. Conclusions: These findings emphasize the critical role of SREBF2 in regulating both triglyceride and cholesterol biosynthesis, providing valuable insights into its functions in buffalo mammary glands.
{"title":"Molecular Characteristics and Role of Buffalo <i>SREBF2</i> in Triglyceride and Cholesterol Biosynthesis in Mammary Epithelial Cells.","authors":"Wenbin Dao, Hongyan Chen, Yina Ouyang, Lige Huang, Xinyang Fan, Yongwang Miao","doi":"10.3390/genes16020237","DOIUrl":"10.3390/genes16020237","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Sterol regulatory element-binding transcription factor 2 (SREBF2) is a key transcription factor involved in regulating cholesterol homeostasis. However, its role in buffalo mammary gland lipid metabolism remains unclear. <b>Methods</b>: To address this, we isolated and characterized the <i>SREBF2</i> gene from buffalo mammary glands and performed an in-depth analysis of its molecular characteristics, tissue-specific expression, and functional roles in buffalo mammary epithelial cells (BuMECs). Additionally, we investigated the single nucleotide polymorphisms (SNPs) of <i>SREBF2</i> in both river and swamp buffalo. <b>Results</b>: The coding sequence (CDS) of buffalo <i>SREBF2</i> is 3327 bp long and encodes a protein of 1108 amino acid residues. Bioinformatics analysis revealed that the molecular characteristics of buffalo <i>SREBF2</i> were highly similar across Bovidae species, with collinearity being observed among them. An expression profile analysis revealed that <i>SREBF2</i> is expressed in all 11 tested tissues of buffalo, with its expression level in the mammary gland being higher during lactation than in the dry period. The knockdown of <i>SREBF2</i> in BuMECs during lactation led to a significant reduction in the expression of genes involved in triglyceride (TAG) and cholesterol synthesis, including <i>PI3K</i>, <i>AKT</i>, <i>mTOR</i>, <i>SREBF1</i>, <i>PPARG</i>, <i>INSIG1</i>, <i>ACACA</i>, <i>SCD</i>, <i>DGAT1</i>, <i>LPL</i>, <i>CD36</i>, <i>HMGCR</i>, and <i>SQLE</i>. This knockdown led to a 23.53% and 94.56% reduction in TAG and cholesterol levels in BuMECs, respectively. In addition, a total of 22 SNPs were identified in both buffalo types, of which four non-synonymous substitutions (c.301G>C, c.304A>T, c.1240G>A, and c.2944G>A) were found exclusively in the <i>SREBF2</i> CDS of swamp buffalo, and the assessment revealed that these substitutions had no impact on <i>SREBF2</i> function. <b>Conclusions</b>: These findings emphasize the critical role of <i>SREBF2</i> in regulating both triglyceride and cholesterol biosynthesis, providing valuable insights into its functions in buffalo mammary glands.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500539","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}
Amélie Zachayus, Jules Loup-Forest, Vincent Cura, Arnaud Poterszman
Nucleotide excision repair (NER) is a universal cut-and-paste DNA repair mechanism that corrects bulky DNA lesions such as those caused by UV radiation, environmental mutagens, and some chemotherapy drugs. In this review, we focus on the human transcription/DNA repair factor TFIIH, a key player of the NER pathway in eukaryotes. This 10-subunit multiprotein complex notably verifies the presence of a lesion and opens the DNA around the damage via its XPB and XPD subunits, two proteins identified in patients suffering from Xeroderma Pigmentosum syndrome. Isolated as a class II gene transcription factor in the late 1980s, TFIIH is a prototypic molecular machine that plays an essential role in both DNA repair and transcription initiation and harbors a DNA helicase, a DNA translocase, and kinase activity. More recently, TFIIH subunits have been identified as participating in other cellular processes, including chromosome segregation during mitosis, maintenance of mitochondrial DNA integrity, and telomere replication.
{"title":"Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.","authors":"Amélie Zachayus, Jules Loup-Forest, Vincent Cura, Arnaud Poterszman","doi":"10.3390/genes16020231","DOIUrl":"10.3390/genes16020231","url":null,"abstract":"<p><p>Nucleotide excision repair (NER) is a universal cut-and-paste DNA repair mechanism that corrects bulky DNA lesions such as those caused by UV radiation, environmental mutagens, and some chemotherapy drugs. In this review, we focus on the human transcription/DNA repair factor TFIIH, a key player of the NER pathway in eukaryotes. This 10-subunit multiprotein complex notably verifies the presence of a lesion and opens the DNA around the damage via its XPB and XPD subunits, two proteins identified in patients suffering from Xeroderma Pigmentosum syndrome. Isolated as a class II gene transcription factor in the late 1980s, TFIIH is a prototypic molecular machine that plays an essential role in both DNA repair and transcription initiation and harbors a DNA helicase, a DNA translocase, and kinase activity. More recently, TFIIH subunits have been identified as participating in other cellular processes, including chromosome segregation during mitosis, maintenance of mitochondrial DNA integrity, and telomere replication.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500422","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: Soybean (Glycine max (L.) Merr.) is a significant economic oilseed crop, and saline-alkali soils restrict soybean yield. Identifying salt-tolerant genes is a key strategy for enhancing soybean productivity under saline-alkali conditions. The roles of the GmABCB gene family in growth, development, and stress resistance remain incompletely understood.
Methods: Bioinformatics approaches were employed to identify and analyze GmABCB genes. A total of 39 GmABCB genes were identified and analyzed in the soybean genome, focusing on their phylogenetic relationships, chromosomal distribution, gene structure, cis-acting elements, evolutionary history, and expression patterns under salt stress.
Results: A total of 39 GmABCB genes were identified. These genes are unevenly distributed across the soybean genome, with 21 segmental duplication events identified. Several cis-acting elements associated with abiotic stress responses were identified.
Conclusions: The GmABCB gene family likely regulates growth, development, and stress tolerance in soybean.
{"title":"Genome-Wide Analyses of the Soybean <i>GmABCB</i> Gene Family in Response to Salt Stress.","authors":"Hui Zou, Caiyun Fan, Xiulin Chen, Ruifeng Chen, Zhihui Sun, Xiaorong Wan","doi":"10.3390/genes16020233","DOIUrl":"10.3390/genes16020233","url":null,"abstract":"<p><strong>Background: </strong>Soybean (<i>Glycine max</i> (L.) <i>Merr</i>.) is a significant economic oilseed crop, and saline-alkali soils restrict soybean yield. Identifying salt-tolerant genes is a key strategy for enhancing soybean productivity under saline-alkali conditions. The roles of the <i>GmABCB</i> gene family in growth, development, and stress resistance remain incompletely understood.</p><p><strong>Methods: </strong>Bioinformatics approaches were employed to identify and analyze <i>GmABCB</i> genes. A total of 39 <i>GmABCB</i> genes were identified and analyzed in the soybean genome, focusing on their phylogenetic relationships, chromosomal distribution, gene structure, cis-acting elements, evolutionary history, and expression patterns under salt stress.</p><p><strong>Results: </strong>A total of 39 <i>GmABCB</i> genes were identified. These genes are unevenly distributed across the soybean genome, with 21 segmental duplication events identified. Several cis-acting elements associated with abiotic stress responses were identified.</p><p><strong>Conclusions: </strong>The <i>GmABCB</i> gene family likely regulates growth, development, and stress tolerance in soybean.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855854/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500467","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}
Andrea Pagano, Conrado Dueñas, Nicolò Bedotto, Amine Elleuch, Bassem Khemakhem, Hanen El Abed, Eleni Tani, Maria Goufa, Dimosthenis Chachalis, Alma Balestrazzi
Background/objectives: The increased frequency of extreme weather events related to climate change, including the occurrence of extreme temperatures, severely affects crop yields, impairing global food security. Heat stress resulting from temperatures above 30 °C is associated with poor germination performance and stand establishment. The combination of climate-resilient crop genotypes and tailored seed priming treatments might represent a reliable strategy to overcome such drawbacks. This work explores the potential of hydropriming as a tool to mitigate the heat-stress-mediated impact on germination performance in orphan legumes.
Methods: For each tested species (Lathyrus sativus L., Pisum sativum var. arvense and Trigonella foenum-graecum L.), two accessions were investigated. Germination tests were performed at 25 °C, 30 °C, 35 °C and 40 °C to assess the heat stress tolerance threshold. Hydropriming was then applied and germination tests were performed at 40 °C to test the impact of the treatment on the seeds' ability to cope with heat stress. An alkaline comet assay and Quantitative Real Time-Polymerase Chain Reaction were performed on embryos excised from primed and control seeds.
Results: Phenotyping at the germination and seedling development stage highlighted the accession-specific beneficial impact of hydropriming under heat stress conditions. In L. sativus seeds, the alkaline comet assay revealed the dynamics of heat stress-induced DNA damage accumulation, as well as the repair patterns promoted by hydropriming. The expression patterns of genes involved in DNA repair and antioxidant response were consistently responsive to the hydropriming and heat wave conditions in L. sativus accessions.
{"title":"Exploring the Genotoxic Stress Response in Primed Orphan Legume Seeds Challenged with Heat Stress.","authors":"Andrea Pagano, Conrado Dueñas, Nicolò Bedotto, Amine Elleuch, Bassem Khemakhem, Hanen El Abed, Eleni Tani, Maria Goufa, Dimosthenis Chachalis, Alma Balestrazzi","doi":"10.3390/genes16020235","DOIUrl":"10.3390/genes16020235","url":null,"abstract":"<p><strong>Background/objectives: </strong>The increased frequency of extreme weather events related to climate change, including the occurrence of extreme temperatures, severely affects crop yields, impairing global food security. Heat stress resulting from temperatures above 30 °C is associated with poor germination performance and stand establishment. The combination of climate-resilient crop genotypes and tailored seed priming treatments might represent a reliable strategy to overcome such drawbacks. This work explores the potential of hydropriming as a tool to mitigate the heat-stress-mediated impact on germination performance in orphan legumes.</p><p><strong>Methods: </strong>For each tested species (<i>Lathyrus sativus</i> L., <i>Pisum sativum</i> var. <i>arvense</i> and <i>Trigonella foenum-graecum</i> L.), two accessions were investigated. Germination tests were performed at 25 °C, 30 °C, 35 °C and 40 °C to assess the heat stress tolerance threshold. Hydropriming was then applied and germination tests were performed at 40 °C to test the impact of the treatment on the seeds' ability to cope with heat stress. An alkaline comet assay and Quantitative Real Time-Polymerase Chain Reaction were performed on embryos excised from primed and control seeds.</p><p><strong>Results: </strong>Phenotyping at the germination and seedling development stage highlighted the accession-specific beneficial impact of hydropriming under heat stress conditions. In <i>L. sativus</i> seeds, the alkaline comet assay revealed the dynamics of heat stress-induced DNA damage accumulation, as well as the repair patterns promoted by hydropriming. The expression patterns of genes involved in DNA repair and antioxidant response were consistently responsive to the hydropriming and heat wave conditions in <i>L. sativus</i> accessions.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500412","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}
Mauro Pesaresi, Federica Alessandrini, Elena Bignozzi, Alessia Bernini Di Michele, Filomena Melchionda, Rosaria Gesuita, Valerio Onofri, Chiara Turchi
Background/objectives: The study of DNA transfer and persistence has become increasingly significant, driven by advancements in DNA detection sensitivity and the need for reliable forensic evidence. In forensic investigations, saliva and saliva-stained materials are recognised as valuable DNA sources, particularly in cases of homicide, sexual assault, and burglary, where saliva can be transferred between individuals during the criminal act. The time between the crime and sample collection is a critical factor that can influence the success of the analysis. The value of the specimens collected from the victim's skin or mouth (perilabial and labial sites, teeth and tongue) after the crime has not been investigated with currently used highly sensitive and specific molecular methods.
Methods: On the assumption that a significant loss of DNA occurred, in our study, 10 voluntary pairs were tested at different time points after intense kissing and samples were taken from the above-mentioned sites to assess the presence of the donor's DNA. Extracted DNA was quantified using the Plexor HY System kit (Promega), and both autosomal STRs and Y-STRs were analysed.
Results: The results reveal a greater persistence of male DNA on the female partner, particularly in the labial and perilabial regions, even up to 120 min after contact, in terms of both concentration and duration.
Conclusions: This study emphasises the forensic importance of salivary DNA as a solid source of evidence, particularly in investigations involving mixed DNA profiles.
{"title":"The Survival of the Kiss: Presence and Persistence of Salivary Male DNA in Mixed Samples.","authors":"Mauro Pesaresi, Federica Alessandrini, Elena Bignozzi, Alessia Bernini Di Michele, Filomena Melchionda, Rosaria Gesuita, Valerio Onofri, Chiara Turchi","doi":"10.3390/genes16020232","DOIUrl":"10.3390/genes16020232","url":null,"abstract":"<p><strong>Background/objectives: </strong>The study of DNA transfer and persistence has become increasingly significant, driven by advancements in DNA detection sensitivity and the need for reliable forensic evidence. In forensic investigations, saliva and saliva-stained materials are recognised as valuable DNA sources, particularly in cases of homicide, sexual assault, and burglary, where saliva can be transferred between individuals during the criminal act. The time between the crime and sample collection is a critical factor that can influence the success of the analysis. The value of the specimens collected from the victim's skin or mouth (perilabial and labial sites, teeth and tongue) after the crime has not been investigated with currently used highly sensitive and specific molecular methods.</p><p><strong>Methods: </strong>On the assumption that a significant loss of DNA occurred, in our study, 10 voluntary pairs were tested at different time points after intense kissing and samples were taken from the above-mentioned sites to assess the presence of the donor's DNA. Extracted DNA was quantified using the Plexor HY System kit (Promega), and both autosomal STRs and Y-STRs were analysed.</p><p><strong>Results: </strong>The results reveal a greater persistence of male DNA on the female partner, particularly in the labial and perilabial regions, even up to 120 min after contact, in terms of both concentration and duration.</p><p><strong>Conclusions: </strong>This study emphasises the forensic importance of salivary DNA as a solid source of evidence, particularly in investigations involving mixed DNA profiles.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11854927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500532","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}
Dana Dlouha, Kristyna Janouskova, Jevgenija Vymetalova, Sarka Novakova, Sarka Chytilova, Marianna Lukasova, Jaroslav A Hubacek
Background: Cardiac allograft vasculopathy (CAV) is an accelerated form of coronary artery disease (CAD) that is characterized by concentric fibrous intimal hyperplasia along the length of coronary vessels, and is recognized as long-term complication after heart transplantation. The chromosomal loci 9p21, 6q25.1, and 2q36.3, represented by their respective leading variants rs10757274, rs6922269 and rs2943634, have been linked with a history of CAD by genome-wide association studies. We aimed to investigate the associations of genetic variants at the loci 9p21, 6q25.1, and 2q36.3 with CAV as genetic risk factors for early prediction.
Methods: Genomic DNA was extracted from paired aortic samples of 727 heart recipients (average age 50.8 ± 12.2 years; 21.3% women) and corresponding donors (average age 39.7 ± 12.0 years; 26.1% women). The variants within the loci 9p21, 6q25.1, and 2q36.3 were genotyped using PCR-RFLP.
Results: The recipients' variants of 9p21 (OR 1.97; 95% CI, 1.21-3.19 for GG vs. +A comparison, p = 0.0056) and 2q36.3 (OR 2.46; 95% CI, 1.12-6.17 for +C vs. AA comparison, p = 0.0186) were associated with higher incidence of CAV during the first year following heart transplantation. No such association was found for donor genotypes.
Conclusions: Our data suggest that variants at the locus 9p21 (rs10757274) and 2q36.3 (rs2943634) are associated with early CAV development.
{"title":"The Relationship Between Genetic Variants at Loci 9p21, 6q25.1, and 2q36.3 and the Development of Cardiac Allograft Vasculopathy in Heart Transplant Patients.","authors":"Dana Dlouha, Kristyna Janouskova, Jevgenija Vymetalova, Sarka Novakova, Sarka Chytilova, Marianna Lukasova, Jaroslav A Hubacek","doi":"10.3390/genes16020236","DOIUrl":"10.3390/genes16020236","url":null,"abstract":"<p><strong>Background: </strong>Cardiac allograft vasculopathy (CAV) is an accelerated form of coronary artery disease (CAD) that is characterized by concentric fibrous intimal hyperplasia along the length of coronary vessels, and is recognized as long-term complication after heart transplantation. The chromosomal loci 9p21, 6q25.1, and 2q36.3, represented by their respective leading variants rs10757274, rs6922269 and rs2943634, have been linked with a history of CAD by genome-wide association studies. We aimed to investigate the associations of genetic variants at the loci 9p21, 6q25.1, and 2q36.3 with CAV as genetic risk factors for early prediction.</p><p><strong>Methods: </strong>Genomic DNA was extracted from paired aortic samples of 727 heart recipients (average age 50.8 ± 12.2 years; 21.3% women) and corresponding donors (average age 39.7 ± 12.0 years; 26.1% women). The variants within the loci 9p21, 6q25.1, and 2q36.3 were genotyped using PCR-RFLP.</p><p><strong>Results: </strong>The recipients' variants of 9p21 (OR 1.97; 95% CI, 1.21-3.19 for GG vs. +A comparison, <i>p</i> = 0.0056) and 2q36.3 (OR 2.46; 95% CI, 1.12-6.17 for +C vs. AA comparison, <i>p</i> = 0.0186) were associated with higher incidence of CAV during the first year following heart transplantation. No such association was found for donor genotypes.</p><p><strong>Conclusions: </strong>Our data suggest that variants at the locus 9p21 (rs10757274) and 2q36.3 (rs2943634) are associated with early CAV development.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855879/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500526","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}
Ivana Čulav, Mihael Skerlev, Lidija Žele Starčević, Pero Hrabač, Suzana Ljubojević Hadžavdić, Iva Bešlić, Liborija Lugović Mihić
Background: Human papillomavirus (HPV) infections in men remain under-researched despite their critical role in disease transmission and the increasing incidence of HPV-related cancers. This study investigates the clinical and molecular characteristics of anogenital HPV infections in men, emphasizing genotype prevalence, diagnostic methods, and lesion variability.
Methods: A cross-sectional study was conducted on 70 men aged 18-65 years with clinically diagnosed anogenital HPV infection. Lesions were characterized by morphology and location. HPV DNA was analyzed using INNO-LiPA (INNOvative Line Probe Assay), Hybrid Capture II (HC II), and polymerase chain reaction (PCR) assays to determine genotype distribution. Associations between clinical features and HPV genotypes were assessed using multivariate statistical analyses.
Results: Lesions varied in morphology, with verrucous (52.86%) and papular (30%) types being the most common. Localization patterns showed predominance on the penis radix (34.29%) and shaft (27.14%). Molecular testing revealed HPV DNA in 88.57% of the cases using INNO-LiPA, compared to 45% and 40% with HC II and PCR, respectively. Low-risk (LR) genotypes, particularly HPV6, dominated single infections, comprising 68.57% of the cases, while high-risk (HR) genotypes accounted for 20%. Mixed LR and HR infections were observed in 14.29% of the lesions, with greater diversity noted in distal genital regions. Notably, condyloma plana and lesions on the inner prepuce exhibited a higher prevalence of HR and mixed infections. Age and lesion duration showed trends toward older patients and longer disease duration in cases involving perianal and extragenital condylomas, though these findings were not statistically significant. No direct correlation between lesion type or localization and specific genotypes was identified, underscoring the heterogeneity of HPV clinical manifestations in men.
Conclusions: Anogenital HPV infections in men exhibit significant heterogeneity in lesion morphology, localization, and genotype distribution. HR HPV genotypes were detected in a notable proportion of benign lesions, underscoring their potential role in disease progression. INNO-LiPA proved superior in diagnostic accuracy, highlighting the need for standardized and cost-effective diagnostic approaches for men. Further research is crucial to elucidate HPV's clinical impact in men and inform prevention and treatment strategies.
{"title":"Human Papilloma Virus Infection in Men: A Specific Human Virome or a Specific Pathology?","authors":"Ivana Čulav, Mihael Skerlev, Lidija Žele Starčević, Pero Hrabač, Suzana Ljubojević Hadžavdić, Iva Bešlić, Liborija Lugović Mihić","doi":"10.3390/genes16020230","DOIUrl":"10.3390/genes16020230","url":null,"abstract":"<p><strong>Background: </strong>Human papillomavirus (HPV) infections in men remain under-researched despite their critical role in disease transmission and the increasing incidence of HPV-related cancers. This study investigates the clinical and molecular characteristics of anogenital HPV infections in men, emphasizing genotype prevalence, diagnostic methods, and lesion variability.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on 70 men aged 18-65 years with clinically diagnosed anogenital HPV infection. Lesions were characterized by morphology and location. HPV DNA was analyzed using INNO-LiPA (INNOvative Line Probe Assay), Hybrid Capture II (HC II), and polymerase chain reaction (PCR) assays to determine genotype distribution. Associations between clinical features and HPV genotypes were assessed using multivariate statistical analyses.</p><p><strong>Results: </strong>Lesions varied in morphology, with verrucous (52.86%) and papular (30%) types being the most common. Localization patterns showed predominance on the penis radix (34.29%) and shaft (27.14%). Molecular testing revealed HPV DNA in 88.57% of the cases using INNO-LiPA, compared to 45% and 40% with HC II and PCR, respectively. Low-risk (LR) genotypes, particularly HPV6, dominated single infections, comprising 68.57% of the cases, while high-risk (HR) genotypes accounted for 20%. Mixed LR and HR infections were observed in 14.29% of the lesions, with greater diversity noted in distal genital regions. Notably, condyloma plana and lesions on the inner prepuce exhibited a higher prevalence of HR and mixed infections. Age and lesion duration showed trends toward older patients and longer disease duration in cases involving perianal and extragenital condylomas, though these findings were not statistically significant. No direct correlation between lesion type or localization and specific genotypes was identified, underscoring the heterogeneity of HPV clinical manifestations in men.</p><p><strong>Conclusions: </strong>Anogenital HPV infections in men exhibit significant heterogeneity in lesion morphology, localization, and genotype distribution. HR HPV genotypes were detected in a notable proportion of benign lesions, underscoring their potential role in disease progression. INNO-LiPA proved superior in diagnostic accuracy, highlighting the need for standardized and cost-effective diagnostic approaches for men. Further research is crucial to elucidate HPV's clinical impact in men and inform prevention and treatment strategies.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500438","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}
Rebecca A Morgan, E Starr Hazard, Stephen J Savage, Chanita Hughes Halbert, Sebastiano Gattoni-Celli, Gary Hardiman
Background/objectives: Prostate cancer (PC) is the most common non-cutaneous cancer in men globally, and one which displays significant racial disparities. Men of African descent (AF) are more likely to develop PC and face higher mortality compared to men of European descent (EU). The biological mechanisms underlying these differences remain unclear. Long non-coding RNAs (lncRNAs), recognized as key regulators of gene expression and immune processes, have emerged as potential contributors to these disparities. This study aimed to investigate the regulatory role of lncRNAs in localized PC in AF men relative to those of EU and assess their involvement in immune response and inflammation.
Methods: A systems biology approach was employed to analyze differentially expressed (DE) lncRNAs and their roles in prostate cancer (PC). Immune-related pathways were investigated through over-representation analysis of lncRNA-mRNA networks. The study also examined the effects of vitamin D supplementation on lncRNA expression in African descent (AF) PC patients, highlighting their potential regulatory roles in immune response and inflammation.
Results: Key lncRNAs specific to AF men were identified, with several being implicated for immune response and inflammatory processes. Notably, 10 out of the top 11 ranked lncRNAs demonstrated strong interactions with immune-related genes. Pathway analysis revealed their regulatory influence on antigen processing and presentation, chemokine signaling, and ribosome pathways, suggesting their critical roles in immune regulation.
Conclusions: These findings highlight the pivotal role of lncRNAs in PC racial disparities, particularly through immune modulation. The identified lncRNAs may serve as potential biomarkers or therapeutic targets to address racial disparities in PC outcomes.
{"title":"Unveiling Racial Disparities in Localized Prostate Cancer: A Systems-Level Exploration of the lncRNA Landscape.","authors":"Rebecca A Morgan, E Starr Hazard, Stephen J Savage, Chanita Hughes Halbert, Sebastiano Gattoni-Celli, Gary Hardiman","doi":"10.3390/genes16020229","DOIUrl":"10.3390/genes16020229","url":null,"abstract":"<p><strong>Background/objectives: </strong>Prostate cancer (PC) is the most common non-cutaneous cancer in men globally, and one which displays significant racial disparities. Men of African descent (AF) are more likely to develop PC and face higher mortality compared to men of European descent (EU). The biological mechanisms underlying these differences remain unclear. Long non-coding RNAs (lncRNAs), recognized as key regulators of gene expression and immune processes, have emerged as potential contributors to these disparities. This study aimed to investigate the regulatory role of lncRNAs in localized PC in AF men relative to those of EU and assess their involvement in immune response and inflammation.</p><p><strong>Methods: </strong>A systems biology approach was employed to analyze differentially expressed (DE) lncRNAs and their roles in prostate cancer (PC). Immune-related pathways were investigated through over-representation analysis of lncRNA-mRNA networks. The study also examined the effects of vitamin D supplementation on lncRNA expression in African descent (AF) PC patients, highlighting their potential regulatory roles in immune response and inflammation.</p><p><strong>Results: </strong>Key lncRNAs specific to AF men were identified, with several being implicated for immune response and inflammatory processes. Notably, 10 out of the top 11 ranked lncRNAs demonstrated strong interactions with immune-related genes. Pathway analysis revealed their regulatory influence on antigen processing and presentation, chemokine signaling, and ribosome pathways, suggesting their critical roles in immune regulation.</p><p><strong>Conclusions: </strong>These findings highlight the pivotal role of lncRNAs in PC racial disparities, particularly through immune modulation. The identified lncRNAs may serve as potential biomarkers or therapeutic targets to address racial disparities in PC outcomes.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500460","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}
Jiaqi Wang, Huiran Wang, Jiayi Zhai, Fulun Zhu, Yufeng Ren, Jun Zhou, Zhikai Zhang, Lan Luo, Wendi Xu
DNA methylation is one of the earliest and most extensively studied epigenetic regulatory mechanisms. The ROS1 (Repressor of Silencing 1) gene was first discovered in Arabidopsis thaliana, and it is a DNA demethylase that can remove 5-methylcytosine from DNA, thereby affecting DNA methylation levels and gene expression. Objectives: The objective of this study was to investigate the role of ROS1 in the development and maturation of Ziziphus jujuba cv. "Dongzao" fruit. Methods: We cloned the ROS1 gene and conducted bioinformatics and expression characteristics analyses on it. Results: Three ROS1 genes, named ZjROS1-1~3, was identified, and each member protein was localized in the nucleus, cytoskeleton, chloroplast, and vacuole. The promoter contained cis-elements such as light response, plant hormone signal transduction, and stress response cis-elements, and it interacted with many proteins such as CMT, MET, and ZDP. The results of the real-time fluorescence quantitative PCR show that ZjROS1 has specific expression patterns in different tissues of Z. jujuba cv. Dongzao, and the expression of ZjROS1-2 in flowers and fruits is high. At the same time, CRISPR/Cas9 technology was used to construct a gene-editing vector for ZjROS1, which provided a basis for the subsequent genetic transformation. Conclusions: In this study, the biological function of ZjROS1 was clarified and a gene-editing vector was constructed, which provided a theoretical basis for the regulation mechanism of demethylase ZjROS1 in the fruit ripening and development of Z. jujuba cv. Dongzao.
{"title":"Identification of <i>Ziziphus jujuba</i> cv. Dongzao DNA Demethylase <i>ZjROS1</i> Gene Family and Construction of CRISPR/Cas9-Mediated Gene-Editing Vector.","authors":"Jiaqi Wang, Huiran Wang, Jiayi Zhai, Fulun Zhu, Yufeng Ren, Jun Zhou, Zhikai Zhang, Lan Luo, Wendi Xu","doi":"10.3390/genes16020228","DOIUrl":"10.3390/genes16020228","url":null,"abstract":"<p><p>DNA methylation is one of the earliest and most extensively studied epigenetic regulatory mechanisms. The <i>ROS1 (Repressor of Silencing 1)</i> gene was first discovered in <i>Arabidopsis thaliana</i>, and it is a DNA demethylase that can remove 5-methylcytosine from DNA, thereby affecting DNA methylation levels and gene expression. <b>Objectives</b>: The objective of this study was to investigate the role of <i>ROS1</i> in the development and maturation of <i>Ziziphus jujuba</i> cv. \"Dongzao\" fruit. <b>Methods</b>: We cloned the <i>ROS1</i> gene and conducted bioinformatics and expression characteristics analyses on it. <b>Results</b>: Three <i>ROS1</i> genes, named <i>ZjROS1-1~3</i>, was identified, and each member protein was localized in the nucleus, cytoskeleton, chloroplast, and vacuole. The promoter contained <i>cis</i>-elements such as light response, plant hormone signal transduction, and stress response <i>cis</i>-elements, and it interacted with many proteins such as CMT, MET, and ZDP. The results of the real-time fluorescence quantitative PCR show that <i>ZjROS1</i> has specific expression patterns in different tissues of <i>Z. jujuba</i> cv. Dongzao, and the expression of <i>ZjROS1-2</i> in flowers and fruits is high. At the same time, CRISPR/Cas9 technology was used to construct a gene-editing vector for <i>ZjROS1</i>, which provided a basis for the subsequent genetic transformation. <b>Conclusions</b>: In this study, the biological function of <i>ZjROS1</i> was clarified and a gene-editing vector was constructed, which provided a theoretical basis for the regulation mechanism of demethylase <i>ZjROS1</i> in the fruit ripening and development of <i>Z. jujuba</i> cv. Dongzao.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11855291/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500444","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}