Journal of Applied Genetics最新文献

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MiR-1976 affects lung squamous cell carcinoma development by targeting NCAPH. MiR-1976通过靶向NCAPH影响肺鳞癌的发展。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-23 DOI: 10.1007/s13353-025-00990-4
Yan Li, Hongwei Zhou, Yibing Yao, Zaiwen Fan
{"title":"MiR-1976 affects lung squamous cell carcinoma development by targeting NCAPH.","authors":"Yan Li, Hongwei Zhou, Yibing Yao, Zaiwen Fan","doi":"10.1007/s13353-025-00990-4","DOIUrl":"https://doi.org/10.1007/s13353-025-00990-4","url":null,"abstract":"<p><p>Lung squamous cell carcinoma (LUSC) is one of the major subtypes of lung cancer. Non-SMC condensin I complex subunit H (NCAPH) is highly regarded as a valuable biomarker in certain malignant tumors. However, the specific roles of NCAPH in LUSC are not well understood. The objective of this work was to determine the effect of NCAPH on the progression of LUSC and to identify the microRNAs (miRNAs) located upstream of NCAPH that regulate its function. MicroRNA and mRNA expression profiles, as well as clinical data of LUSC (Normal: 49, LUSC: 502), were obtained from the TCGA database for the purpose of differential analysis and survival analysis. The expression of NCAPH and miR-1976 in LUSC cell lines was detected using Quantitative reverse transcription PCR (qRT-PCR) and western blot techniques. In this study, the impact of NCAPH on the proliferation of LUSC cells was assessed using CCK-8 and colony formation assay. Additionally, the effects of NCAPH on the migration and invasion of LUSC cells were evaluated using the Transwell assay. Furthermore, the effects of NCAPH on the apoptosis of LUSC cells were evaluated using flow cytometry. The target miRNAs of NCAPH were predicted using bioinformatics, and the targeting link between miR-1976 and NCAPH was confirmed using a dual-luciferase reporter gene experiment. The findings indicated that the expression of NCAPH was notably elevated in LUSC tissues (P < 0.05), while the expression of its upstream miRNA (miR-1976) was notably reduced (P < 0.05). The dual-luciferase test results indicated that miR-1976 functions as an upstream target miRNA of NCAPH. Low expression of NCAPH may inhibit the proliferation (P < 0.05), migration (P < 0.05), invasion (P < 0.05), and promote apoptosis (P < 0.05) in LUSC cells. However, the suppression of miR-1976 may reverse this inhibitory effect by specifically targeting NCAPH. This study showed that NCAPH can serves as a novel potential oncogenic biomarker for LUSC and its regulation is controlled by upstream miR-1976. miR-1976 can directly targets NCAPH to affect the proliferation, migration, invasion, and apoptosis of LUSC cell.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144690295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genotype by environment interaction for productive and reproductive traits in beef cattle using imputed whole genome sequence. 利用全基因组序列对肉牛生产和繁殖性状进行环境互作基因分型。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-21 DOI: 10.1007/s13353-025-00987-z
Ivan Carvalho Filho, Gabriel Soares Campos, Daniela Lourenco, Flavio Schram Schenkel, Delvan Alves da Silva, Thales Lima Silva, Caio Souza Teixeira, Larissa Fernanda Simielli Fonseca, Gerardo Alves Fernandes Júnior, Lucia Galvão de Albuquerque, Roberto Carvalheiro
{"title":"Genotype by environment interaction for productive and reproductive traits in beef cattle using imputed whole genome sequence.","authors":"Ivan Carvalho Filho, Gabriel Soares Campos, Daniela Lourenco, Flavio Schram Schenkel, Delvan Alves da Silva, Thales Lima Silva, Caio Souza Teixeira, Larissa Fernanda Simielli Fonseca, Gerardo Alves Fernandes Júnior, Lucia Galvão de Albuquerque, Roberto Carvalheiro","doi":"10.1007/s13353-025-00987-z","DOIUrl":"https://doi.org/10.1007/s13353-025-00987-z","url":null,"abstract":"<p><p>Accounting for genotype by environment interaction (GxE) and using genomic information may enhance the prediction accuracy <math><mrow><mo>(</mo> <mover><mtext>ACC</mtext> <mo>^</mo></mover> <mo>)</mo></mrow> </math> of breeding values. Hence, the objective of this study was to evaluate the gain in <math><mover><mtext>ACC</mtext> <mo>^</mo></mover> </math> using single-step genomic BLUP using high-density SNP chip (ssGBLUP_HD) or whole genome imputed sequence (ssGBLUP_SEQ) compared to pedigree BLUP in the presence of GxE. Phenotypic data for age at first calving (AFC), scrotal circumference (SC), post-weaning weight gain (PWG), and yearling weight (YW) were obtained from commercial breeding programs of Nellore cattle. There were 1,578,591 animals in the pedigree, from which 51,485 had genotypes with high-density SNP chip (HD) and whol- genome imputed sequence (WGS), totaling 460,578 and 2,437,948 SNPs, respectively, after quality control. Contemporary group effects, estimated with a regular animal model (without modeling GxE), were used to define the environmental gradients (EG) for the reaction norm model (RNM). Genetic sensitivity to environmental variation was assessed by fitting three different linear RNM: the first considering only pedigree (BLUP), the second also considering the genomic information from HD, and the third considering the genomic information from WGS. The validation was carried out for genotyped young bulls, with no progeny records in the reduced data and at least one in the complete data. Models were compared using prediction accuracy, dispersion, correlation between the breeding values from reduced data and complete data, and bias from the linear regression method. Re-ranking between animals and heterogeneity of genetic variance in different EG were observed, suggesting the presence of GxE. The results for the regression coefficients of the RNM showed, in general, that the inclusion of genomic information increased the <math><mover><mtext>ACC</mtext> <mo>^</mo></mover> </math> for the RNM regression coefficients for all traits. For SC, PWG, and YW, the highest accuracies were obtained with ssGBLUP_SEQ. Conversely, AFC had higher accuracy with ssGBLUP_HD. In addition, the <math><mover><mtext>ACC</mtext> <mo>^</mo></mover> </math> for genotyped young bulls increased as the EG increased. In conclusion, ssGBLUP_SEQ yielded higher <math><mover><mtext>ACC</mtext> <mo>^</mo></mover> </math> and correlation and a lower bias than the BLUP across all EG, indicating that the implementation of genomic selection using the whole genome sequence and accounting for GxE benefits this Nellore beef cattle population.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144674828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms. 胸主动脉瘤中氧化应激相关生物标志物的筛选与调控机制研究
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-11 DOI: 10.1007/s13353-025-00988-y
Tao Liu, Pandeng Wang, Chenfan Guo, Xiangsen Liang, Baoshi Zheng
{"title":"Screening and investigating the regulatory mechanisms of oxidative stress-related biomarkers in thoracic aortic aneurysms.","authors":"Tao Liu, Pandeng Wang, Chenfan Guo, Xiangsen Liang, Baoshi Zheng","doi":"10.1007/s13353-025-00988-y","DOIUrl":"https://doi.org/10.1007/s13353-025-00988-y","url":null,"abstract":"<p><p>Excess reactive oxygen species leading to oxidative stress has been identified as a significant factor in cardiovascular disease. However, the molecular mechanisms of oxidative stress-related genes in thoracic aortic aneurysm have not been thoroughly explored. An analysis of the GSE9106 dataset, using a geneset related to oxidative stress, revealed important links to purine metabolism pathways through functional enrichment analysis. A systematic investigation identified seven candidate genes, resulting in the identification of four potential biomarkers (IL10, SNCA, MAP1LC3A, and EPX) that show strong diagnostic promise for thoracic aortic aneurysm. These biomarkers were associated with critical pathways, including neuroactive ligand-receptor interaction and olfactory transduction. Correlation analysis also highlighted their relationships with specific immune cell types. The study not only examined biomarker-drug interactions but also performed experimental validations using qRT-PCR and immunohistochemistry. While the expression patterns of IL10 aligned with existing databases, some inconsistencies were observed in the validation of the other three biomarkers. Overall, these findings provide important insights into the diagnosis and treatment of thoracic aortic aneurysm, underscoring the significant role of oxidative stress-related biomarkers in this condition.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of variants from gene expression data of opioid-addicted patients. 阿片类药物成瘾患者基因表达数据的变异鉴定。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-08 DOI: 10.1007/s13353-025-00989-x
Swati Ajmeriya, Biswadip Chatterjee, Subhradip Karmakar
{"title":"Identification of variants from gene expression data of opioid-addicted patients.","authors":"Swati Ajmeriya, Biswadip Chatterjee, Subhradip Karmakar","doi":"10.1007/s13353-025-00989-x","DOIUrl":"https://doi.org/10.1007/s13353-025-00989-x","url":null,"abstract":"<p><p>NGS (next-generation sequencing) has become a rapid advance in discovering the variants in the genomic data for disease diagnosis, prognosis, and therapeutic decision. However, the scope of detecting single nucleotide polymorphisms (SNPs) becomes limited by the availability of reliable high-throughput data. OUD (opioid use disorder) is a chronic condition marked by prolonged opioid misuse, leading to cycles of relapse and remission. The discovery of genetic variants associated with OUD is constrained by limited genomic data, making it crucial to identify these variants and their genetic factors. The identification of variants from RNA-seq (RNA-sequencing) data can become the representative of the SNP analysis that is generally preferred from the whole genome or exome sequencing data. This study aimed to identify variants from gene expression data downloaded from NCBI GEO with accession PRJNA492904 in postmortem ventral midbrain specimens of chronic opioid users. We hypothesized that the NRXN3 gene would exhibit the highest number of variants due to its significant role in neuronal synapse function and its association with opioid addiction and impulsivity. We utilized RNA-Seq data from OUD patients (PRJNA492904, NCBI SRA) to detect variants in expressed RNA, which can indicate functional protein changes. Eight genes were analyzed: BDNF, DRD2, DRD3, NRXN3, OPRD1, OPRM1, and NGFB, with a primary focus on NRXN3. Our findings revealed the highest number of variants in NRXN3 compared to the other genes, highlighting its potential importance in OUD and the robustness of RNA-Seq in variant detection.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144583916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide identification of genetic determinants for gall midge resistance in rice using genic markers. 水稻抗瘿蚊遗传决定因素的基因标记全基因组鉴定。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-02 DOI: 10.1007/s13353-025-00985-1
Basana Gowda Gadratagi, Lopamudra Mandal, Rameswar Prasad Sah, Anilkumar C, Guru-Pirasanna-Pandi G, Naveenkumar B Patil, Nandini Sahu, Muhammed Azharudheen T P, Sasmita Behera, Prakash Chandra Rath, Shyamaranjan Das Mohapatra
{"title":"Genome-wide identification of genetic determinants for gall midge resistance in rice using genic markers.","authors":"Basana Gowda Gadratagi, Lopamudra Mandal, Rameswar Prasad Sah, Anilkumar C, Guru-Pirasanna-Pandi G, Naveenkumar B Patil, Nandini Sahu, Muhammed Azharudheen T P, Sasmita Behera, Prakash Chandra Rath, Shyamaranjan Das Mohapatra","doi":"10.1007/s13353-025-00985-1","DOIUrl":"https://doi.org/10.1007/s13353-025-00985-1","url":null,"abstract":"<p><p>The Asian rice gall midge poses a severe threat to rice yields, making the development of resistant rice cultivars the most cost-effective and efficient strategy to manage the gall midge. A diverse panel of 115 rice accessions was phenotyped, revealing varying resistance to the gall midge biotype 2. The panel's diversity and familial relatedness were assessed before conducting a genome-wide association study to identify marker-trait associations (MTAs) for gall midge resistance. Newly developed candidate gene-derived markers were used along with random microsatellite markers in genotyping. A total of 50 significant MTAs with P < 0.05 were found. Except for chromosome 11, all of the rice chromosomes had significant MTAs. The QTL identified on chromosomes 6, 8, and 9 has been associated with 66F 67R, 54F 55R, and RM107, explaining maximum phenotypic variation. The allele effects of the associated markers differentiated susceptible and highly resistant genotypes, confirming their association with gall midge resistance. Seven genes associated with the general response to stress tolerance were found in the gall midge resistance QTL region. On chromosome 9, one putative gene for gall midge resistance was identified, which is associated with marker RM23914. These candidate genes identified have a significant impact on the gall midge resistance response. This investigation contributes to a better understanding of the rice gall midge resistance mechanism and provides essential genetic information for the breeding and functional verification of resistant cultivars.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Design principle of successful genome editing applications using CRISPR-based toolkits. 使用基于crispr的工具包的成功基因组编辑应用程序的设计原则。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-01 DOI: 10.1007/s13353-025-00979-z
Juhi Sharma, Rajesh Biswas, Prashant Khare
{"title":"Design principle of successful genome editing applications using CRISPR-based toolkits.","authors":"Juhi Sharma, Rajesh Biswas, Prashant Khare","doi":"10.1007/s13353-025-00979-z","DOIUrl":"https://doi.org/10.1007/s13353-025-00979-z","url":null,"abstract":"<p><p>Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated (Cas) proteins are the most promising toolkit of synthetic biology for genetic engineering applications across species. Essentially, the Type II CRISPR system, featuring Cas9 nuclease from Streptococcus pyogenes complexed with sgRNA, introduces targeted DNA cleavage, enabling modifications with exceptional precision. This technology can be utilized for not only editing but also modulating gene expressions, thereby finding widespread utility in various biotechnological applications. Here we discuss strategies to construct a consolidated platform aiming at developing a CRISPR-based gene editing system in microbial hosts such as yeast. Employing the well-known gene editing enzymes, i.e., Cpf1 and dCas9, two independent strategies to develop a one-pot plasmid system have been proposed. Furthermore, approaches to reduce off-target cleavages introduced by non-specific targeting of CRISPR complex have been discussed. Finally, an overarching discussion on advanced strategies to design robust CRISPR components is provided for streamlining future genome editing applications.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Masquerading as lymphoma: the accelerated phase of Chediak-Higashi syndrome and its novel mutation. 伪装成淋巴瘤:Chediak-Higashi综合征的加速期及其新的突变。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-07-01 DOI: 10.1007/s13353-025-00986-0
Priyanka Aggarwal, Aditi Agarwal, Sonali Aggarwal, Deepa Rani, Vineeta Gupta
{"title":"Masquerading as lymphoma: the accelerated phase of Chediak-Higashi syndrome and its novel mutation.","authors":"Priyanka Aggarwal, Aditi Agarwal, Sonali Aggarwal, Deepa Rani, Vineeta Gupta","doi":"10.1007/s13353-025-00986-0","DOIUrl":"https://doi.org/10.1007/s13353-025-00986-0","url":null,"abstract":"<p><p>Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The clinical presentation may be fatal if these patients develop the catastrophic accelerated phase, i.e., hemophagocytic lymphohistiocytosis (HLH). We report a 2.5-year boy that presented to us with complaints of fever, recurrent cough, glandular neck swelling, and abdominal distension for 6 months. He also had a history of female sibling death (age, 3 years) 3 years ago with similar complaints. On examination, he had light skin and silver hair along with severe pallor, generalized significant lymphadenopathy, severe acute malnutrition, and hepatosplenomegaly. Since the patient's peripheral blood smear and bone marrow showed giant primary azurophilic granules in lymphocytes and eosinophils and the presence of 5 out of 8 HLH 2004 criteria, i.e., fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypertriglyceridemia, a diagnosis of CHS with HLH was made. However, no hemophagocytosis was observed. A novel homozygous nonsense variant in exon 45 of the LYST gene (chr1:g.235702929G > A) similar to the one found in the elder female sibling and previously reported \"likely pathogenic\" was discovered, which was identified through genetic testing. This case highlights the importance of genetic testing in diagnosis as well as antenatal counselling.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature. 扩大对索文-罗宾-费弗尔综合征的认识:一个具有新的临床发现和文献回顾的病例报告。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-06-19 DOI: 10.1007/s13353-025-00984-2
Andrea Cosentino, Flavia D'Orazio, Roberto Magnato, Wilhelm Berger
{"title":"Expanding the knowledge about Thauvin-Robinet-Faivre syndrome: a case report with novel clinical findings and review of the literature.","authors":"Andrea Cosentino, Flavia D'Orazio, Roberto Magnato, Wilhelm Berger","doi":"10.1007/s13353-025-00984-2","DOIUrl":"https://doi.org/10.1007/s13353-025-00984-2","url":null,"abstract":"<p><p>This case report expands the phenotypic spectrum of Thauvin-Robinet-Faivre syndrome (TROFAS, OMIM #617107), a rare autosomal recessive disorder caused by biallelic loss-of-function mutations in the FIBP gene. We describe a patient with genetically confirmed TROFAS who presented with novel clinical features, including non-ossifying fibromas, subglottic tracheal stenosis, intermediate uveitis, and complete atrioventricular block requiring pacemaker implantation. The findings significantly broaden the phenotypic landscape of TROFAS and underscore the need for multidisciplinary management and long-term follow-up.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the role of circRNA-miRNA-mRNA interactions in cervical cancer progression: insights into HPV status and potential therapeutic approaches. 探索circRNA-miRNA-mRNA相互作用在宫颈癌进展中的作用:对HPV状态和潜在治疗方法的见解。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-06-18 DOI: 10.1007/s13353-025-00982-4
K J Sindhu, Venkatesan Nalini, Sundaram Sandhya, Devarajan Karunagaran
{"title":"Exploring the role of circRNA-miRNA-mRNA interactions in cervical cancer progression: insights into HPV status and potential therapeutic approaches.","authors":"K J Sindhu, Venkatesan Nalini, Sundaram Sandhya, Devarajan Karunagaran","doi":"10.1007/s13353-025-00982-4","DOIUrl":"https://doi.org/10.1007/s13353-025-00982-4","url":null,"abstract":"<p><p>Human papillomavirus (HPV) is the primary etiological factor in cervical cancer. Circular RNAs (circRNAs) contribute significantly to tumor progression, functioning as microRNA (miRNA) sponges and interacting with RNA-binding proteins (RBPs). While circRNA-miRNA-mRNA regulatory networks have been studied in cervical cancer, the lack of intermediate neoplastic samples has limited the understanding of circRNA-driven progression from HPV-positive (HPV <sup>+</sup>) or HPV-negative (HPV <sup>-</sup>) normal cervical epithelium (NCE) to cervical squamous cell carcinoma (CSCC). This study addressed that gap by identifying differentially expressed (DE) circRNAs across four comparisons: high-grade squamous intraepithelial lesions (HSIL) vs. HPV <sup>+</sup> NCE, HSIL vs. HPV <sup>- </sup>NCE, CSCC vs. HPV <sup>+ </sup>NCE, and CSCC vs. HPV <sup>-</sup> NCE, using the limma R package. Commonly dysregulated circRNAs across comparisons were identified, revealing potential contributors to cancer progression regardless of HPV status. Of the 12 DE circRNAs identified, 11 had miRNA partners predicted via circAtlas, implicated in various oncogenic pathways. A protein-protein interaction (PPI) network of 30 hub genes was generated using STRING analysis. Among these, USP39, PQBP1, ANAPC5, STUB1, and UBE2D2 were significantly associated with overall survival in cervical cancer. Validation using qRT-PCR confirmed a competing endogenous RNA (ceRNA) network involving hsa-KIF4A_0022, hsa-miR-29b-2-5p, and UBE2D2 in cervical cancer of South Asian Indian origin. The study utilized CMAP2 and CTDBASE, identifying foretinib, TPCA-1, and dequalinium as promising drugs targeting key hub genes. Although limitations include a small sample size and ethnic heterogeneity in in vitro validation, this study advances our understanding of circRNA mechanisms in cervical cancer and identifies novel biomarkers and therapeutic targets.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Overexpression of adenosine receptor (A1, A2a, A2b, A3) genes in esophageal tumor tissue: A2b adenosine receptor as a potential biomarker and anticancer target. 食管肿瘤组织中腺苷受体(A1, A2a, A2b, A3)基因的过表达:A2b腺苷受体是潜在的生物标志物和抗癌靶点。
IF 2 3区 生物学
Journal of Applied Genetics Pub Date : 2025-06-12 DOI: 10.1007/s13353-025-00981-5
Mahmood Poorjam, Marie Saghaeian Jazi, Jahanbakhsh Asadi, Alireza Norouzi, Abdolsamad Gharavi, Seyyed Mehdi Jafari
{"title":"Overexpression of adenosine receptor (A1, A2a, A2b, A3) genes in esophageal tumor tissue: A2b adenosine receptor as a potential biomarker and anticancer target.","authors":"Mahmood Poorjam, Marie Saghaeian Jazi, Jahanbakhsh Asadi, Alireza Norouzi, Abdolsamad Gharavi, Seyyed Mehdi Jafari","doi":"10.1007/s13353-025-00981-5","DOIUrl":"https://doi.org/10.1007/s13353-025-00981-5","url":null,"abstract":"<p><p>Esophageal cancer is the eighth most common cancer, the third most common gastrointestinal cancer, and the leading cause of cancer death worldwide. Adenosine receptor signaling is one of the important pathways that have been recently found to be dysregulated in some cancers. Adenosine receptors are divided into four subgroups: A1, A2a, A2b, A3, and here in the current study, we aimed to investigate their association with esophageal cancer. The results showed that the expression level of adenosine receptor genes A1, A2a, A2b, and A3 in esophageal tumor tissue was increased 5.02, 4.22, 9.36, and 3.90 times compared to tumor margin tissue, respectively (p < 0.05). According to the comparison of these values, the A2b receptor gene has the highest overexpression in esophageal tumor samples. There was no significant relationship between adenosine receptor gene expression and age, grade, and tumor size of patients with esophageal cancer. Our data also indicated that adenosine-induced cell death was inhibited by the A2B adenosine receptor antagonist (PSB 603). Finally, our results showed an increase in the expression of all four adenosine receptors in tumor tissue relative to the tumor margin, and the pattern of adenosine receptor expression (A2b > A1 > A2a > A3) shows that the A2b receptor is probably more important than the other adenosine receptors regarding the overexpression level and adenosine-mediated cell death in esophageal cancer cells.</p>","PeriodicalId":14891,"journal":{"name":"Journal of Applied Genetics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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