Genes & genomics最新文献

{"title":"Role of heat shock proteins and analysis of gene expression in response to high temperatures in date palm (Phoenix dactylifera).","authors":"Seo-Won Yoo, Jae-Han Choi, Seok Won Jeong, Youn-Il Park, Young-Ji Byon, Man-Ho Oh","doi":"10.1007/s13258-025-01648-5","DOIUrl":"https://doi.org/10.1007/s13258-025-01648-5","url":null,"abstract":"<p><strong>Background: </strong>Date palm (Phoenix dactylifera L.) is an important agricultural crop in the Middle East and North Africa. The productivity of agricultural crops and physiological function of plants can be greatly affected by climate change that is currently ongoing. According to a recent study, heat waves caused by global warming and climate change will continue to worsen. Therefore, it is necessary to enhance the tolerance of plants, promote growth, and study solutions to reduce yield losses.</p><p><strong>Objective: </strong>The objective of this study is to investigate the role of specific heat-shock proteins (HSPs) from date palm in conferring heat tolerance to plants by analyzing gene expression and generating transgenic Arabidopsis thaliana.</p><p><strong>Methods: </strong>qRT-PCR was used to analyze 49 genes in date palms ('Sukkary' and 'Medjool') exposed at 37 °C for 2 h for heat-shock genes (HSPs). We selected specific heat-shock genes and generated transgenic Arabidopsis plants including PdHSP17.6, PdHSP22.0, PdHSP23.6, and PdHSP26.5. Photosynthetic efficiency (Fv/Fm) was assessed under heat-stress conditions.</p><p><strong>Results: </strong>Transgenic Arabidopsis plants expressing date palm HSP genes maintained higher photosynthetic efficiency under heat stress compared to non-transgenic plants, indicating enhanced thermotolerance.</p><p><strong>Conclusion: </strong>These findings suggest that the introduced HSP genes play a critical role in enabling transgenic Arabidopsis to maintain the photosynthetic efficiency under heat stress, supporting the hypothesis that these genes contribute to thermotolerance in plants.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of genetic signatures of positive selection in apes linked to life-history trait adaptations.","authors":"Yoo-Rim Roh, Kiejung Park, Young Jun An, Hyung-Soon Yim, Jung-Hyun Lee","doi":"10.1007/s13258-025-01647-6","DOIUrl":"https://doi.org/10.1007/s13258-025-01647-6","url":null,"abstract":"<p><strong>Background: </strong>Apes, including humans, exhibit distinctive life history traits such as increased brain mass, delayed sexual maturity, and extended longevity compared to non-ape primates. These pronounced interspecific differences likely arise from underlying genetic architecture. However, the molecular mechanisms contributing to these traits remain largely unknown.</p><p><strong>Objective: </strong>This study aims to identify genetic factors under positive selection that may have contributed to the evolution of ape-specific life history traits, particularly extended longevity.</p><p><strong>Methods: </strong>Comparative genomic analyses were performed between 7 ape species and 22 non-ape primate taxa to identify positively selected genes (PSGs). Functional enrichment analyses were conducted to determine the biological processes associated with these PSGs. Additionally, expression analyses were carried out to assess tissue-specific patterns and their potential roles in neurodevelopment and systemic homeostasis.</p><p><strong>Results: </strong>A total of 143 PSGs were idetntified, showing significant enrichment in biological processes including homeostatic regulation, protein complex assembly, and G protein-coupled receptor signaling pathways. Among these, ADCY5, PRKCB, and IL2 were of particular interest due to their established roles in longevity-associated mechanisms. Expression analyses revealed tissue-specific patterns suggesting potential involvement in brain evolution, neurodevelopment, and glucose homeostasis.</p><p><strong>Conclusion: </strong>This study provides molecular insights into the genetic mechanisms underlying longevity in apes and highlights key biological processes that may have contributed to the evolution of ape-specific life history traits. These findings enhance our understanding of how positive selection has shaped complex phenotypes, particularly extended lifespan, in the ape lineage.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lactate released by lung adenocarcinoma (LUAD) cells promotes M2 macrophage polarization via the GPR132/cAMP/PKA pathway.","authors":"Xiao Chen, Zhongzheng Zhang, Kangwu Wang","doi":"10.1007/s13258-025-01622-1","DOIUrl":"10.1007/s13258-025-01622-1","url":null,"abstract":"<p><strong>Background: </strong>Increasing evidence suggests that lactate is an essential compound in the tumor microenvironment, and especially for macrophage cells. However, the mechanism by which lactate affects macrophages remains unclear.</p><p><strong>Objective: </strong>This study investigated whether and how lactate affects macrophage polarization in lung adenocarcinoma (LUAD).</p><p><strong>Methods: </strong>Clinical samples of LUAD and paracancerous tissue were obtained for evaluation of lactate dehydrogenase A (LDHA) expression. LUAD cell lines and THP-1 induced macrophages were used in this study. Quantitative real-time PCR (QPCR), western blotting, and immunohistochemical (IHC) staining were performed to detect gene expression. Flow cytometry and ELISA assays were used to detect the levels of M1 macrophage and M2 macrophage biomarkers.</p><p><strong>Results: </strong>LDHA was highly expressed in the LUAD tissues. Culture medium supernatants derived from LUAD cells (CM) promoted macrophage M2 polarization, and lactate levels were elevated in the CM. Inhibition of LDHA in LUAD cells decreased lactate levels and suppressed M2 macrophage polarization. Moreover, overexpression of GPR132 in macrophages promoted, while GPR132 knockdown in macrophages suppressed M2 macrophage polarization and cAMP (Cyclic Adenosine 3',5'-Monophosphate)/PKA (Protein Kinase) pathway activation induced by lactate. The effect of GPR132 overexpression was reversed by a PKA inhibitor (H-89).</p><p><strong>Conclusion: </strong>Collectively, our results confirmed that lactate released by LUAD cells promoted M2 macrophage polarization via the GPR132/cAMP/PKA pathway.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"521-531"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the role of alternative splicing in the pathogenesis of Sjögren's syndrome: identification of novel isoforms associated with salivary gland immune infiltration.","authors":"Jiaxu Chen, Zhenghao Shi, Luan Xue","doi":"10.1007/s13258-025-01633-y","DOIUrl":"10.1007/s13258-025-01633-y","url":null,"abstract":"<p><strong>Introduction: </strong>Sjögren's syndrome (SS) is an autoimmune disorder affecting exocrine glands, causing dry mouth and eyes, with no effective treatment. While high-throughput sequencing has provided insights into its mechanisms, the role of alternative splicing (AS) in SS remains underexplored.</p><p><strong>Objective: </strong>To investigate the relationship between immune infiltration in the salivary glands and AS events at the transcriptomic level, and to identify potential biomarkers that may be linked to the diagnosis and prognosis of SS.</p><p><strong>Methods: </strong>Transcriptomic data from salivary glands were aligned to the GRCh38 genome using HISAT2. Isoform quantification was performed with StringTie, and differential isoform usage was analyzed with DEXSeq in the IsoformSwitchAnalyzeR pipeline. Further analyses were conducted to explore the relationship between AS events, clinical data and immune infiltration.</p><p><strong>Results: </strong>16 genes showed significant alternative splicing between biopsy-positive and biopsy-negative salivary glands. These genes were linked to immune regulation. Isoform usage ratios integrated with clinical data identified MAP4K1, SH2D3C, and ACAP1 isoforms as potential diagnostic biomarkers. Immune infiltration analysis showed a strong correlation between memory B cells, follicular helper T cells, and biopsy scores, with significant differences between biopsy-positive and biopsy-negative tissues. A correlation between immune infiltration and isoform usage provided insights into gene function and disease progression.</p><p><strong>Conclusions: </strong>This study reveals the critical role of AS in SS, identifying 16 genes with differential isoform usage that may serve as biomarkers for diagnosis and prognosis. The link between immune infiltration and splicing suggests that AS influences immune responses in SS, providing opportunities for targeted therapies. These findings emphasize AS's importance in SS and offer new diagnostic and therapeutic avenues.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"559-569"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perillic acid disrupts the specification of germ layers by upregulating the FGF/MAPK pathway.","authors":"Gang-Ho Yoon, Dong-Seok Park, Myeoung Su Kim, Sun-Cheol Choi","doi":"10.1007/s13258-025-01641-y","DOIUrl":"10.1007/s13258-025-01641-y","url":null,"abstract":"<p><strong>Background: </strong>Xenopus embryo is an ideal model for teratogenesis assays to assess the effects of any compounds on the cellular processes crucial for early development and adult tissue homeostasis.</p><p><strong>Objective: </strong>In our screening of a chemical library with frog embryo to identify novel compounds that exert specific effects on key cellular signaling pathways, perillic acid (PA) was found to disrupt germ layer specification in early development. Thus, the mechanism underlying this effect was investigated.</p><p><strong>Methods: </strong>Embryos were exposed to PA during a specific period of early development to observe stage-specific morphological alterations induced by this compound. Whole-mount in situ hybridization was performed to examine its effects on ectodermal and mesodermal differentiation and the anterior-posterior patterning of neural tissue. Western blotting analysis was employed to identify the signaling pathways through which PA influences germ layer formation in Xenopus development.</p><p><strong>Results: </strong>PA-treated embryos exhibited the shortening of the anterior-posterior body axis, truncation of craniofacial structures and malformation of neural crest (NC). These severe morphological defects occurred when embryos became exposed to PA during the gastrula stages. Consistent with these phenotypes, treatment with PA caused significant expansion of neural tissue concomitant with a reduction of epidermal and NC cell fates. Furthermore, PA induced the caudalization of neural fate and expressions of paraxial mesodermal genes, recapitulating the activity of the FGF/MAPK signals in germ layer specification. In line with this, ERK activation could be induced by PA treatment, which was mediated by the FGFR1 pathway.</p><p><strong>Conclusion: </strong>PA affects the anterior-posterior neural patterning and mesodermal specification by activating the FGF/MAPK signaling pathway.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"637-649"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CTHRC1 expresses in cancer-associated fibroblasts and is associated with resistance to anti-androgen therapy in prostate cancer.","authors":"Hai-Qi Liang, Qi-Huan He, Qiu-Ju Wei, Qi-Zhou Mo, Guang-Lin Yang, Fa-Ye Wei, Li-Wei Wei, Yu-Jian Li, Min Qin, Ji-Wen Cheng","doi":"10.1007/s13258-025-01624-z","DOIUrl":"10.1007/s13258-025-01624-z","url":null,"abstract":"<p><strong>Background: </strong>CTHRC1 overexpresses in prostate cancer and is associated with the proliferation, invasion and migration of prostate cancer cells. However, the roles and mechanisms of CTHRC1 expression in prostate cancer prognosis and treatment outcomes remain unknown.</p><p><strong>Objective: </strong>This study aimed to explore the expression and gene function of CTHRC1 in prostate cancer, investigate the prognostic value and potential effect in the treatment of prostate cancer.</p><p><strong>Methods: </strong>Bulk and single-cell RNA sequencing analyses were used to evaluate the expression of CTHRC1 in prostate cancer. All data used in the study were obtained from publicly available sources to ensure transparency. Study enrolled 1999 cases of prostate cancer and 531 normal controls. Single-cell RNA sequencing profile included 62,995 cells from seven prostate primary tumors. CTHRC1 expression and prognosis analyses were conducted with these samples and verified by immunohistochemical staining. CIBERSORT algorithm was used to assess the tumor immune infiltrating cells based on bulk mRNA sequencing profiles. Genomics of drug sensitivity in cancer (GDSC) database was used to predict IC50 to anti-androgen therapy (ADT) drugs of the samples.</p><p><strong>Results: </strong>CTHRC1 expressed in prostate cancer was higher than that in normal prostate tissue, and the expression increased with the progress of prostate cancer. CTHRC1 was the risk factor of progression-free interval (PFI). CTHRC1 was positively correlated with the infiltration of tumor-associated macrophages (TAMs). Myofibroblast-like cancer-associated fibroblasts (myCAFs) were the major CTHRC1 expressers in prostate cancer. TGF-β signaling activated in CTHRC1-positive myCAFs and was involved in TAMs polarization. Biological functions of myCAFs were enriched in hormone response and metabolism. CTHRC1 may regulate androgen receptor signaling through CCN2/CAV1/AR pathway. Moreover, ADT drug Bicalutamide and AZD3514 were less sensitive in the high CTHRC1 expression tumors.</p><p><strong>Conclusions: </strong>As a potential molecular target of ADT resistance in prostate cancer, CTHRC1 provides a new promising molecular approach for the diagnosis and treatment of prostate cancer.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"541-557"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143500585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysing glycolysis-related genes reveals the prognostic and diagnostic relevance of IER3 and AGRN in colorectal cancer.","authors":"Samaneh Dalali, Fatemeh Kaviani, Mohammad Mahdevar, Andisheh Oroujalian, Maryam Peymani","doi":"10.1007/s13258-025-01618-x","DOIUrl":"10.1007/s13258-025-01618-x","url":null,"abstract":"<p><strong>Background: </strong>Colorectal cancer (CRC) is a significant global health issue, with early detection being critical to improving patient survival. Dysregulation of the glycolysis pathway plays a pivotal role in CRC progression, but specific gene-level mechanisms remain underexplored.</p><p><strong>Objective: </strong>This study aimed to investigate the role of glycolysis-related genes in CRC development and identify potential diagnostic and prognostic biomarkers.</p><p><strong>Methods: </strong>We utilized The Cancer Genome Atlas (TCGA) dataset to perform differential expression analysis of glycolysis-related genes in CRC. Protein-protein interaction (PPI) network analysis was conducted to identify central hub genes. The diagnostic potential of selected genes was evaluated using ROC curve analysis, while their expression levels were validated through RT-qPCR.</p><p><strong>Results: </strong>IER3 and AGRN were identified as significantly upregulated genes associated with reduced survival rates in CRC patients. PPI analysis revealed their roles as central hub genes within the glycolysis pathway. ROC curve analysis demonstrated their ability to distinguish CRC patients from healthy individuals. Validation through RT-qPCR confirmed their significant overexpression in CRC samples, highlighting their involvement in disease progression.</p><p><strong>Conclusion: </strong>IER3 and AGRN are critical components of the glycolysis pathway, driving CRC development and progression while also showing potential as biomarkers for predicting outcomes, diagnosing CRC, and serving as treatment targets.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"509-520"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ectopic expression of AtMYB115 and AtMYB118 induces green tissue formation in non-green organs of Arabidopsis thaliana.","authors":"Hyeon-Ung Jang, Sang-Kee Song","doi":"10.1007/s13258-025-01639-6","DOIUrl":"10.1007/s13258-025-01639-6","url":null,"abstract":"<p><strong>Background: </strong>A dominant mutant, green root-dominant (grt-D), which exhibits a green-root phenotype, was identified using the GAL4-UAS activation tagging system in the Q2610 enhancer trap line of Arabidopsis thaliana (Arabidopsis).</p><p><strong>Objective: </strong>To identify the gene responsible for the grt-D phenotype and investigate whether its ectopic expression induces green petal formation.</p><p><strong>Methods: </strong>The gene responsible for the grt-D phenotype was identified via thermal asymmetric interlaced-polymerase chain reaction (PCR). The cloned gene and its homolog were expressed under the control of the Q2610 enhancer for root tip expression and the APETALA3 (AP3) or PISTILLATA (PI) promoter for petal-preferential expression.</p><p><strong>Results: </strong>The 5 × UAS tag in grt-D was located 111 base pairs upstream of the start codon of AtMYB115. Ectopic expression of AtMYB115 or its closest homolog, AtMYB118, under the Q2610 enhancer recapitulated the grt-D green-root phenotype, indicating functional equivalence between the two genes. To examine their effect on petal development, AtMYB115 and AtMYB118 were expressed under the AP3 and PI promoters. The resulting transgenic lines (AP3 >  > AtMYB115, AP3 >  > AtMYB118, PI >  > AtMYB115, and PI >  > AtMYB118) developed short, pale green petals and sterile stamens. The green petals exhibited reduced expression of STAY-GREEN 1, which encodes Mg-dechelatase, a key enzyme involved in chlorophyll degradation, suggesting that the green-petal phenotype results from impaired chlorophyll breakdown.</p><p><strong>Conclusion: </strong>These findings demonstrate that the ectopic expression of AtMYB115 and AtMYB118 induces green tissue development in non-green organs of Arabidopsis.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"587-597"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RepID depletion enhances TWS119-induced erythropoiesis through chromatin reprogramming and transcription factor recruitment.","authors":"Seon-Mi Ok, Jae-Hyun Jo, Hyo Je Cho, Sang-Min Jang","doi":"10.1007/s13258-025-01627-w","DOIUrl":"10.1007/s13258-025-01627-w","url":null,"abstract":"<p><strong>Background: </strong>Erythrocytes, derived from hematopoietic stem cells, are essential for oxygen transport, ensuring survival in all vertebrate animals. The process of erythropoiesis is associated with gene expression changes, but many key regulatory factors that govern erythroid differentiation remain to be fully understood.</p><p><strong>Objective: </strong>This study investigates the role of TWS119, a known GSK3β inhibitor, in inducing erythropoiesis in K562 erythroleukemia cells and explores the impact of Replication initiation determinant protein (RepID) depletion on the process.</p><p><strong>Methods: </strong>K562 cells were treated with TWS119 and erythropoiesis markers including various erythrocytic phenotypes were assessed. Chromatin-immunoprecipitation analysis was employed to examine the changes in chromatin structure and gene expression regulation. The impact of RepID depletion on TWS119-induced erythropoiesis was also evaluated by analyzing globin promoter euchromatinization and NRF2 binding.</p><p><strong>Results: </strong>TWS119 treatment led to erythrocytic phenotypes in K562 cells, such as red pellet formation, enucleation, and nucleus condensation, along with the upregulation of erythropoiesis markers. Furthermore, RepID depletion accelerated TWS119-mediated erythropoiesis. Chromatin-immunoprecipitation analysis revealed euchromatinization of the globin promoter and enhanced NRF2 binding in RepID-depleted cells, suggesting a mechanism of gene expression regulation during erythropoiesis.</p><p><strong>Conclusion: </strong>This study demonstrates that TWS119 can induce erythropoiesis in K562 cells, and that RepID depletion enhances this process by modulating chromatin structure and facilitating transcription factor binding. These findings highlight a RepID-dependent mechanism in the regulation of gene expression during erythropoiesis.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"533-540"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656906","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic and immunological role of LASP2 in clear cell renal cell carcinoma.","authors":"Libo Chen, Nanhui Chen, Zhouzhou Xie, Yuchen Xiao, Huiming Jiang","doi":"10.1007/s13258-024-01612-9","DOIUrl":"10.1007/s13258-024-01612-9","url":null,"abstract":"<p><strong>Background: </strong>Clear cell renal cell carcinoma (ccRCC) represents a common renal carcinoma subtype influenced by the immune microenvironment. LIM and SH3 Protein 2 (LASP2), an actin-binding protein within the nebulin family, contributes to cellular immunity and adhesion mechanisms.</p><p><strong>Objective: </strong>This study aimed to clarify the immunological and prognostic relevance of LASP2 in ccRCC.</p><p><strong>Methods: </strong>Using clinical and expression data from TCGA, LASP2 expression levels were analyzed alongside clinicopathological features in ccRCC patients. Validation was conducted through real-world samples and tissue microarrays. Comprehensive analysis using online databases examined genetic mutations, DNA methylation patterns, and immune microenvironment characteristics. Gene set enrichment analysis (GSEA) provided insights into LASP2's potential mechanisms in ccRCC.</p><p><strong>Results: </strong>LASP2 expression was notably reduced and correlated with adverse clinicopathological features and prognosis in ccRCC patients. Prognostic associations were identified across multiple CpG DNA methylation sites. LASP2 levels showed significant correlations with immune cell infiltration and checkpoint genes, including PDCD1 and CTLA4. GSEA findings highlighted LASP2's enrichment within metabolic pathways and signaling networks, such as fatty acid metabolism, TGF-β signaling, and epithelial-mesenchymal transition.</p><p><strong>Conclusion: </strong>LASP2 emerged as an immune-associated biomarker linked to poorer survival outcomes in ccRCC, suggesting its potential as a novel anti-cancer target and prognostic indicator in ccRCC.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"625-636"},"PeriodicalIF":1.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}