Genes最新文献

{"title":"Cross-Kingdom Communication via Plant-Derived Extracellular Vesicle Nucleic Acids in Genetically Engineered <i>Nicotiana tabacum</i>.","authors":"Lorena Urbanelli, Federica Delo, Giada Cerrotti, Emidio Albertini, Jacopo Lucci, Sandra Buratta, Eleonora Calzoni, Stefano Giovagnoli, Luana Lugini, Cristina Federici, Federica Fratini, Valentino Mercati, Carla Emiliani","doi":"10.3390/genes16030356","DOIUrl":"10.3390/genes16030356","url":null,"abstract":"<p><strong>Background/objectives: </strong>Plants release extracellularly lipid bilayer-enclosed vesicles of nanometric size that can be retrieved in their fluids. Plant-derived extracellular vesicles (PDEVs) have mostly been involved in modulating host-pathogen interaction, making them a tool for cross-kingdom communication with a key role in plant immunity. In addition, PDEVs have demonstrated promising therapeutic features, not only in terms of intrinsic nutraceutical properties but also of active molecules' delivery. Transgenic plants have been developed for a variety of purposes, i.e., to improve their functional properties like crops, but also to produce therapeutic molecules. However, it is unclear whether transgenes can end up in PDEVs, thus making them a vehicle for their cross-kingdom diffusion into the environment.</p><p><strong>Methods: </strong>Here, we investigated the association of transgenic DNA and RNA with PDEVs secreted by tobacco (<i>Nicotiana tabacum</i>) engineered to express the neomycine phosphotransferase II (Npt-II) gene. PDEVs were isolated from leaf apoplastic fluid by ultracentrifugation and characterized for their morphology and size. The association of DNA and RNA was assessed by qRT-PCR and their immunomodulatory properties by assaying PDEVs-induced IL1β and IL10 on THP1 monocytes.</p><p><strong>Results: </strong>Npt-II RNA, but not DNA, could be amplified from PDEVs, whereas no differences were observed between wt and transgenic tobacco PDEVs in terms of immunomodulatory properties.</p><p><strong>Conclusions: </strong>Although a different behaviour by other types of RNAs or DNAs could still be possible, our findings indicate that in this model, PDEVs are not associated with transgenic DNA, but they can protect RNA, including transgenic RNA, from degradation, contributing to their cross-kingdom spreading.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729588","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}

{"title":"Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.","authors":"Rossana Santiago de Sousa Azulay, Alexandre Nogueira Facundo, Sarah Sousa E Sousa, Gilvan Cortes Nascimento, Marcelo Magalhães, Clariano Pires de Oliveira Neto, Joana D'arc Matos França de Abreu, Débora Cristina Ferreira Lago, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho, Caio Andrade Nascimento, Vandilson Pinheiro Rodrigues, Fernanda Borchers Coeli-Lacchini, Margaret de Castro, Manuel Dos Santos Faria","doi":"10.3390/genes16030354","DOIUrl":"10.3390/genes16030354","url":null,"abstract":"<p><p><b>Background</b>: Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders characterized by impaired cortisol synthesis in the adrenal glands. Over 90% of CAH cases result from a deficiency of the enzyme 21-hydroxylase (21OHD). The clinical spectrum of 21OHD ranges from the severe, life-threatening salt-wasting classic form, often presenting with prenatal virilization in females, to the non-classic (milder) form, which lacks glucocorticoid deficiency. Females with the non-classic form may experience symptoms of hyperandrogenism or infertility later in life, while males with non-classic CAH are often undiagnosed due to the subtler presentation. The coexistence of genetic anomalies and CAH is rarely reported in the literature, particularly in cases involving Triple X syndrome-a condition typically associated with a mild and frequently underdiagnosed clinical course. <b>Case presentation</b>: Here, we present a unique case of a 38-year-old woman with a history of premature ovarian failure and subsequent clinical features of hyperandrogenism. Further investigation revealed a novel association between partial 21OHD and a Triple X karyotype-an association not previously documented in the literature. <b>Conclusions</b>: This case highlights the potential for coexisting rare genetic conditions and underscores the critical importance of thorough and meticulous clinical evaluation.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729711","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}

{"title":"The First Complete Mitochondrial Genomes for the Genus <i>Dianema</i> (Siluriformes: Callichthyidae): <i>Dianema longibarbis</i> and <i>D. urostriatum</i>.","authors":"Seong Duk Do, Jae-Sung Rhee","doi":"10.3390/genes16030355","DOIUrl":"10.3390/genes16030355","url":null,"abstract":"<p><strong>Background/objectives: </strong>To date, no information is available on the complete mitochondrial genome of the genus <i>Dianema</i> (Siluriformes: Callichthyidae), a callichthyid catfish. In this study, we report on two complete mitochondrial genome sequences of <i>Dianema longibarbis</i> Cope, 1872, and <i>Dianema urostriatum</i> Miranda Ribeiro, 1912, the only two recognized species within the genus <i>Dianema</i>.</p><p><strong>Methods: </strong>DNA sequencing was performed using the HiSeq platform to obtain their complete mitogenomes. To confirm phylogenetic distance, two phylogenetic trees were established using maximum-likelihood and Bayesian inference methods with all concatenated protein-coding sequences (PCGs) and two ribosomal RNA (rRNA) genes from the <i>D. longibarbis</i> and <i>D. urostriatum</i> mitogenomes, along with 32 mitogenomes retrieved from Siluriformes.</p><p><strong>Results: </strong>The complete mitogenomes of <i>D. longibarbis</i> and <i>D. urostriatum</i> are 16,493 and 16,495 base pairs in length, respectively. Their nucleotide compositions are 31.79% A, 27.53% T, 25.86% C, and 14.82% G for <i>D. longibarbis</i>, and 31.69% A, 27.04% T, 26.36% C, and 14.91% G for <i>D. urostriatum</i>. Both mitogenomes contain 13 PCGs, 22 transfer RNA (tRNA) genes, and two rRNA genes. Phylogenetic results based on all PCGs and two rRNAs genes confirm <i>D. longibarbis</i> as a sister species to <i>D. urostriatum</i> in the subfamily Callichthyinae.</p><p><strong>Conclusions: </strong>In contrast to the extensive mitochondrial studies on species in the Corydoradinae, species in the Callichthyinae have been largely understudied. This study provides valuable insights into genetic diversity and evolutionary complexity by presenting the first mitochondrial genome analysis of two <i>Dianema</i> species, a genus within the Callichthyinae.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729744","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}

{"title":"Genetic Diversity and Forensic Parameters of 27 Y-STRs in Two Mestizo Populations from Western Mexico.","authors":"Astrid Desireé Sánchez-Méndez, Silvia Elena Narvaez-Rivera, Héctor Rangel-Villalobos, Jorge Hernández-Bello, Andrés López-Quintero, José Miguel Moreno-Ortíz, Benito Ramos-González, José Alonso Aguilar-Velázquez","doi":"10.3390/genes16030352","DOIUrl":"10.3390/genes16030352","url":null,"abstract":"<p><strong>Background: </strong>Analyzing Y-chromosome short tandem repeats (Y-STRs) is essential in forensic genetics and population studies. The Yfiler™ Plus kit, which includes 27 Y-STR markers, enhances the discrimination power for forensic and kinship applications. However, this genetic system has not been analyzed in Mexican populations, which limits its application and representativeness in international databases.</p><p><strong>Objectives: </strong>We wished to examine the genetic diversity and forensic parameters of the 27 Y-STRs included in the YFiler™ Plus kit in two populations from Western Mexico (Jalisco and Michoacán).</p><p><strong>Methods: </strong>Male DNA samples were amplified using the Yfiler™ Plus kit, followed by a fragment analysis via capillary electrophoresis (CE). The haplotype frequencies and forensic parameters were calculated. The haplogroups of all samples were predicted, and the distribution and percentages of ancestries were determined. The Rst genetic distances, including reference populations, were calculated and graphically represented in a multidimensional scaling (MDS) plot.</p><p><strong>Results: </strong>A total of 224 haplotypes were identified in all of the samples, of which 98.66% corresponded to unique haplotypes. Bi- and tri-allelic patterns were observed in both populations. The observed discriminatory capacity was 98.4% for Jalisco and 98.9% for Michoacán, while the haplotype diversity values were 0.9998 and 0.9997, respectively. The most frequent haplogroup was R1b, followed by Q, representing the European and Native American ancestries, in both populations.</p><p><strong>Conclusions: </strong>This study is the first to report the haplotype diversity and forensic parameters of the 27 Y-STRs included in the Yfiler™ Plus kit in Mexican populations. These findings confirm the forensic utility of these markers for human identification, biological relationship testing, and criminal investigations, reinforcing their applicability in forensic casework.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729683","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}

{"title":"Identification of Antimicrobial Peptides from <i>Nibribacter radioresistens</i>, a UV and Gamma Radiation Tolerant Bacterium.","authors":"Sam Woong Kim, Woo Young Bang","doi":"10.3390/genes16030353","DOIUrl":"10.3390/genes16030353","url":null,"abstract":"<p><strong>Background: </strong><i>Nibribacter radioresistens</i>, a UV and gamma radiation-tolerant bacterium, was reported to have superior antibacterial activities against a variety of pathogenic bacteria through the production of antimicrobial peptides (AMPs), but nothing is known about its AMPs.</p><p><strong>Methods/results: </strong>In this study, our genomic and transcriptomic data showed that the <i>N. radioresistens</i> genome contains 11 <i>AMP</i> gene candidates, designated as NB_AMP1 to NB_AMP11, which are expressed differently in logarithmic growth and stationary phase. Moreover, the cell-free supernatant of all <i>Escherichia coli</i> DH5α strains containing cloned <i>AMPs</i> except for NB_AMP5 and NB_AMP7 exhibited antibacterial activities against both Gram-negative and Gram-positive bacteria such as <i>E. coli</i> and <i>Staphylococcus aureus</i>. Synthetic AMPs supported the antibacterial activities of cloned <i>AMPs</i>, and, in particular, the synthetic NB_AMP2 showed superior antibacterial activities against both <i>E. coli</i> and <i>S. aureus</i>.</p><p><strong>Conclusions: </strong>Altogether, these results suggest that the <i>AMP</i> candidates from <i>N. radioresistens</i> may function as antimicrobial peptides, effectively causing cellular lysis through pore formation in the bacterial membrane.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729672","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}

{"title":"SARS-CoV-2 Genetic Variants Identified in Selected Regions of Ethiopia Through Whole Genome Sequencing: Insights from the Fifth Wave of COVID-19.","authors":"Getnet Hailu, Mengistu Legesse, Andargachew Mulu, Girmay Medhin, Mesfin Mengesha Tsegaye, Dawit Hailu Alemayehu, Abaysew Ayele, Atsbeha Gebreegziabxier, Adamu Tayachew, Adimkewu Aguine, Haileyesus Dejene, Sofonias K Tessema, Harris Onywera, Assohoun Egomli Stanislas, Ebba Abate, Alessandro Marcello, Molalegne Bitew","doi":"10.3390/genes16030351","DOIUrl":"10.3390/genes16030351","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic highlighted SARS-CoV-2 variants with increased transmissibility and immune evasion. In Ethiopia, where cases surged, the understanding of the virus's dynamics was limited. This study analyzed SARS-CoV-2 variants during the fifth wave, crucial for guiding vaccines, therapeutics, diagnostics, and understanding disease severity.</p><p><strong>Method: </strong>From June to August 2022, 150 SARS-CoV-2-positive samples were randomly selected from the Ethiopian Public Health Institute repository. Sixty-three high-quality genome sequences were analyzed.</p><p><strong>Results: </strong>Of the 63 sequences, 70% were from males and 30% from females, with a median age of 34. Omicron dominated (97%, 61/63), primarily clade 22A (64%, 40/63), followed by 22B (18%, 11/63) and 21K (14%, 9/63). Delta accounted for 3.2% (2/63). Omicron was identified in all (25) vaccinated study participants. Ethiopian sequences showed limited evolutionary divergence and lower genetic diversity compared to global sequences.</p><p><strong>Conclusion: </strong>Omicron was the predominant variant during Ethiopia's fifth wave, indicating recent community transmission. Despite minor genetic diversity differences, ongoing surveillance remains critical for tracking variants and informing public health interventions.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729726","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}

{"title":"Alternative Splicing Events and ABA Hormone Regulation in Drought Response of <i>Hippophae gyantsensis</i> L.","authors":"Fanfan Lin, Yifan Cai, Shihai Yang, Yunqiang Yang","doi":"10.3390/genes16030350","DOIUrl":"10.3390/genes16030350","url":null,"abstract":"<p><p>(1) <b>Background</b>: <i>Hippophae gyantsensis</i>, a drought-tolerant plant native to the Tibetan Plateau, plays a crucial ecological and economic role. While its drought tolerance mechanisms have been extensively studied, the role of alternative splicing (AS) in drought resistance remains insufficiently explored. This study aims to elucidate how AS events regulate gene expression to enhance drought tolerance in <i>H. gyantsensis</i> under water-deficit conditions. (2) <b>Methods</b>: <i>H. gyantsensis</i> plants were subjected to progressive drought stress followed by rehydration. Physiological responses, transcriptomic data, and hormonal profiles were analyzed to investigate the plant's adaptive mechanisms to drought stress, with a particular focus on abscisic acid (ABA) signaling-related genes. (3) <b>Results</b>: The results showed that <i>H. gyantsensis</i> maintained high leaf water content even under severe drought stress, emphasizing its strong drought resistance. A transcriptomic analysis revealed 11,962 differentially expressed genes, primarily enriched in hormone signaling and metabolic pathways. Notably, the accumulation of ABA was closely associated with AS events in ABA-related genes, such as <i>ZEPs</i>, <i>ABCG</i>, and <i>PP2C</i>. These genes produced multiple splice variants, indicating their role in modulating the ABA signaling pathway and enhancing drought tolerance. (4) <b>Conclusions</b>: This study highlights the pivotal role of AS in ABA signaling and drought tolerance in <i>H. gyantsensis</i>. It provides new insights into how AS contributes to plant adaptation to drought stress, bridging the knowledge gap in drought resistance mechanisms and emphasizing the importance of AS in plant stress responses.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729580","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}

{"title":"Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.","authors":"Prevathe Poniah, Aswir Abdul Rashed, Julaina Abdul Jalil, Ernie Zuraida Ali","doi":"10.3390/genes16030345","DOIUrl":"10.3390/genes16030345","url":null,"abstract":"<p><strong>Background/objectives: </strong>Background: Early-onset Alzheimer's disease (EOAD) is primarily inherited in an autosomal dominant pattern, with mutations in the <i>APP</i>, <i>PSEN1</i>, and <i>PSEN2</i> genes being central contributors. Diagnosing Alzheimer's poses challenges due to the coexistence of various co-pathologies, and treatment options remain limited for most patients, apart from familial cases linked to specific genetic mutations. While significant research on Alzheimer's genetics has been conducted in both Asian and Caucasian populations, the specific mutations and their clinical impacts in EOAD are still inadequately explored. This review aims to provide a detailed analysis of commonly reported genetic mutations and associated clinical features in EOAD patients from Asian and Western populations.</p><p><strong>Methods: </strong>Following the PRISMA-ScR guidelines, a systematic database search was conducted for studies published between 2016 and 2023. After screening 491 records, 36 studies from Asian cohorts and 40 from Western cohorts met the inclusion criteria.</p><p><strong>Results: </strong>The analysis revealed 127 unique mutations in the Asian population and 190 in the Western population. About 16.7% of Asian and 21.9% of Western studies covered both familial and sporadic AD, with consistent patterns across groups. Some mutations were shared between the populations and displayed similar clinical features, while others were population-specific.</p><p><strong>Conclusions: </strong>These findings underscore the considerable variability in EOAD mutations and phenotypes, emphasizing the importance of genetic testing in younger patients to enhance diagnostic accuracy and guide treatment strategies effectively.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729670","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}

{"title":"Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.","authors":"Khaled K Abu-Amero, Bashaer Almadani, Shereen Abualkhair, Syed Hameed, Altaf A Kondkar, Andrea Sollazzo, Angeli Christy Yu, Massimo Busin, Giorgio Zauli","doi":"10.3390/genes16030347","DOIUrl":"10.3390/genes16030347","url":null,"abstract":"<p><p>Mitochondria are vital organelles responsible for ATP production and metabolic regulation, essential for energy-intensive cells such as retinal ganglion cells. Dysfunction in mitochondrial oxidative phosphorylation or mitochondrial DNA (mtDNA) pathogenic variants can disrupt ATP synthesis, cause oxidative stress, and lead to cell death. This has profound implications for tissues such as the retina, optic nerve, and retinal pigment epithelium, which are dependent on robust mitochondrial function. In this review, we provide a comprehensive compilation of pathogenic variants in the mtDNA associated with various ophthalmic diseases, including Leber's hereditary optic neuropathy, chronic progressive external ophthalmoplegia, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, among others. We highlight the genetic variants implicated in these conditions, their pathogenic roles, and the phenotypic consequences of mitochondrial dysfunction in ocular tissues. In addition to well-established mutations, we also discuss the emerging evidence of the role of mtDNA's variants in complex multifactorial diseases, such as non-arteritic anterior ischemic optic neuropathy, primary open-angle glaucoma, and age-related macular degeneration. The review aims to serve as a valuable resource for clinicians and researchers, providing a detailed overview of mtDNA pathogenic variants and their clinical significance in the context of mitochondrial-related eye diseases.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729698","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}

{"title":"The Prognostic Value and Immunomodulatory Role of Spsb2, a Novel Immune Checkpoint Molecule, in Hepatocellular Carcinoma.","authors":"Lv Tian, Yiming Wang, Jiexin Guan, Lu Zhang, Jun Fan","doi":"10.3390/genes16030346","DOIUrl":"10.3390/genes16030346","url":null,"abstract":"<p><strong>Background: </strong>Liver cancer, specifically hepatocellular carcinoma (LIHC), ranks as the second most common cause of cancer-related fatalities globally. Moreover, the occurrence rate of LIHC is steadily increasing. A recently identified gene, <i>SPSB2</i>, has been implicated in cell signaling, impacting the development and progression of non-small cell lung cancer. Nevertheless, studies on the role of SPSB2 in the pathogenesis of LIHC are lacking.</p><p><strong>Methods: </strong>Using the TCGA, GTEx, and GEO databases, we obtained differentially expressed genes that affect the prognosis of patients with LIHC. We utilized the Kruskal-Wallis test, along with univariate and multivariate COX regression analyses, to determine the correlation between SPSB2 and patient clinical indicators. Potential biological functions of SPSB2 in LIHC were explored by enrichment analysis, ssGSEA, and Spearman correlation analysis. Finally, LIHC cell lines Huh7 and SMMC-7721 were used to validate the biological function of SPSB2.</p><p><strong>Results: </strong>The results showed LIHC patients with higher SPSB2 expression had a poorer prognosis, and SPSB2 expression was significantly correlated with LIHC patients' Histologic grade, Pathologic T stage, Prothrombin time, Pathologic stage, BMI, weight, adjacent hepatic tissue inflammation, AFP level, and OS event (<i>p</i> < 0.05). SPSB2 shows notable enrichment in pathways linked to tumorigenesis and the immune system. Moreover, its expression is strongly connected to immune cells and immune checkpoints. Knockdown of SPSB2 expression in Huh7 cells and SMMC-7721 cells inhibits SPSB2's biological functions, including proliferation, invasion, metastasis, and other phenotypes.</p><p><strong>Conclusions: </strong>SPSB2 plays a crucial role in the development of LIHC. It is related to the immune response and unfavorable outcomes. SPSB2 may function as a clinical biomarker for prognosis.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729560","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}