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The multifaceted role of HJURP in cancer: Implications for tumorigenesis and therapeutic targeting HJURP在癌症中的多重作用:对肿瘤发生和治疗靶向的影响
IF 2.4 3区 生物学
Gene Pub Date : 2025-09-01 DOI: 10.1016/j.gene.2025.149751
Nikita Taneja , Akansha Chauhan , Vandana Mehra , Sandhya Singh
{"title":"The multifaceted role of HJURP in cancer: Implications for tumorigenesis and therapeutic targeting","authors":"Nikita Taneja ,&nbsp;Akansha Chauhan ,&nbsp;Vandana Mehra ,&nbsp;Sandhya Singh","doi":"10.1016/j.gene.2025.149751","DOIUrl":"10.1016/j.gene.2025.149751","url":null,"abstract":"<div><h3>Background</h3><div>Holliday Junction Recognition Protein (HJURP) is essential for centromere integrity and chromosomal stability through its role in CENP-A deposition. Emerging studies suggest that HJURP also contributes to various aspects of cancer biology, including tumor initiation, progression, and metastasis.</div></div><div><h3>Objective</h3><div>To comprehensively review the molecular and clinical relevance of HJURP in cancer, with a focus on its role in genomic maintenance, cancer hallmarks, and its potential as a prognostic biomarker and therapeutic target.</div></div><div><h3>Methods</h3><div>A systematic review of published studies was conducted. In addition, mutation data for HJURP were retrieved from cBioPortal and analyzed using R to generate lollipop plots, identifying mutational hotspots and mutation types across multiple cancer types. Protein interaction networks and recent therapeutic research were also evaluated.</div></div><div><h3>Results</h3><div>HJURP exhibits context-dependent functions in cancer, acting either as an oncogene or tumor suppressor. It is implicated in cancer hallmarks such as cell cycle dysregulation, DNA repair defects, apoptosis evasion, epithelial–mesenchymal transition, metabolic alterations, and immune evasion. The bioinformatics analysis revealed recurrent mutations that may affect its functional domains.</div></div><div><h3>Conclusion</h3><div>HJURP is a key regulator in cancer biology with diagnostic and therapeutic potential. Targeting HJURP may provide novel strategies for personalized cancer treatment and improved patient outcomes.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149751"},"PeriodicalIF":2.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144988839","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
The current report on drug development focuses on “The new dimension” of cancer hallmarks 目前关于药物开发的报告侧重于癌症特征的“新维度”。
IF 2.4 3区 生物学
Gene Pub Date : 2025-09-01 DOI: 10.1016/j.gene.2025.149750
Sisca Ucche , Yonika Arum Larasati , Dini Maharani , Monica Hana Widyardhita , Wasita Rachma Widayanti , Adam Hermawan
{"title":"The current report on drug development focuses on “The new dimension” of cancer hallmarks","authors":"Sisca Ucche ,&nbsp;Yonika Arum Larasati ,&nbsp;Dini Maharani ,&nbsp;Monica Hana Widyardhita ,&nbsp;Wasita Rachma Widayanti ,&nbsp;Adam Hermawan","doi":"10.1016/j.gene.2025.149750","DOIUrl":"10.1016/j.gene.2025.149750","url":null,"abstract":"<div><div>Cancer remains a significant global challenge, affecting millions, but progress has been made in understanding its development and advancement. The discovery of cancer drugs focuses on identifying “new dimension” hallmarks of cancer, such as phenotypic plasticity, senescence, polymorphic microbiota, and non-mutational epigenetic reprogramming. These elements are crucial in tumor development and treatment. Recent small molecule anticancer drugs target these characteristics and are currently undergoing preclinical testing, clinical trials, and approval. This review aids in developing strategies for cancer treatment. This review examines pharmacological agents aimed at the new dimension hallmarks of cancer, specifically those that address phenotypic plasticity, such as dedifferentiation, blocked differentiation, and <em>trans</em>-differentiation. Drugs that eliminate senescent cells are categorized as senolytic and senomorphic agents. This review analyzes microbial metabolites that could affect the efficacy of chemotherapeutic agents, specifically those derived from <em>Fusobacterium nucleatum, Helicobacter pylori, Escherichia coli, Bacteroides fragilis, Streptococcus gallolyticus, Porphyromonas gingivalis, Mycoplasma hyorhinis</em>, and <em>Enterococcus faecalis</em>. Drugs targeting non-mutational epigenetic reprogramming encompass DNA methylation inhibitors, histone modification modulators, BET inhibitors, and chromatin remodeling complexes. This review contributes to the development and exploration of strategies aimed at overcoming challenges in cancer treatment. This will lead to improved outcomes for patients and a more optimistic future in cancer treatment.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149750"},"PeriodicalIF":2.4,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144992106","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
Patients with colon cancer exhibited greater TEX19 expression, controlled in vitro by epigenetic inhibitors 结肠癌患者表现出更高的TEX19表达,在体外由表观遗传抑制剂控制。
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-31 DOI: 10.1016/j.gene.2025.149747
Mikhlid H. Almutairi , Ahmad S. Alkhaldi , Turki M. Alrubie , Waad A. Alsoraie , Jilani P. Shaik , Abdullah M. Alamri , Mohammad Alanazi , Saad H. Alkahtani , Bader O. Almutairi
{"title":"Patients with colon cancer exhibited greater TEX19 expression, controlled in vitro by epigenetic inhibitors","authors":"Mikhlid H. Almutairi ,&nbsp;Ahmad S. Alkhaldi ,&nbsp;Turki M. Alrubie ,&nbsp;Waad A. Alsoraie ,&nbsp;Jilani P. Shaik ,&nbsp;Abdullah M. Alamri ,&nbsp;Mohammad Alanazi ,&nbsp;Saad H. Alkahtani ,&nbsp;Bader O. Almutairi","doi":"10.1016/j.gene.2025.149747","DOIUrl":"10.1016/j.gene.2025.149747","url":null,"abstract":"<div><h3>Background</h3><div>In the Saudi population, colon cancer (CC) is connected with a high death rate due to frequent late-stage diagnosis. Consequently, early diagnosis of CC is crucial for improving treatment outcomes and reducing mortality. The purpose of the study was to evaluate the potential application of human testis expressed 19 (TEX19) as a cancer biomarker for better therapy and early CC identification.</div></div><div><h3>Methods</h3><div>Both RT-PCR and qRT-PCR were used to examine the expression levels of <em>TEX19</em> in 25 adjacent CC and normal colon (NC) tissue samples from Saudi male and female patients. To determine if these agents can raise the <em>TEX19</em>, four cell lines treated with 5-aza-2′-deoxycytidine and trichostatin A were subjected to an <em>in vitro</em> investigation using the qRT-PCR technique. Furthermore, a rat model of CC was established using DMH-induced CC in male Wistar rats with saline-treated control colon. Kaplan-Meier survival analysis was performed using The Cancer Genome Atlas (TCGA) dataset.</div></div><div><h3>Results</h3><div>The qRT-PCR results showed that <em>TEX19</em> expression was significantly higher in CC compared to NC tissues in both male and female patients (p = 0.0003 and 0.0026, respectively). In vitro experiments demonstrated increased <em>TEX19</em> expression in cell lines treated with 5-aza-2′-deoxycytidine and in cells treated with trichostatin A. An <em>in vivo</em> rat model also demonstrated increased <em>expression of Tex19.1 and Tex19.2</em> in DMH (a colon carcinogen)-induced CC compared to the control group. <em>In silico</em> analysis revealed that <em>TEX19</em> expression was significantly upregulated in COAD tissues compared to normal tissues. <em>TEX19</em> promoter methylation levels were significantly reduced in COAD tissues compared to normal tissues. Patients with high <em>TEX19</em> expression exhibited a trend towards poorer overall survival.</div></div><div><h3>Conclusions</h3><div>These results suggest that the <em>TEX19</em> gene, which is regulated by the suppression of methylation and histone deacetylation, is a promising biomarker for CC and may serve as a therapeutic target for CC in certain populations.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149747"},"PeriodicalIF":2.4,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144949829","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
A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste 一个新的PI*S-plus型SERPINA1空等位基因:PI*Q0Tegueste
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-30 DOI: 10.1016/j.gene.2025.149741
José María Hernández Pérez , Ainhoa Escuela-Escobar , Ruth López Travieso , Francisco Martínez Bugallo , Mario Andrés González-Carracedo , José Antonio Pérez-Pérez
{"title":"A new SERPINA1 null allele of the PI*S-plus type: PI*Q0Tegueste","authors":"José María Hernández Pérez ,&nbsp;Ainhoa Escuela-Escobar ,&nbsp;Ruth López Travieso ,&nbsp;Francisco Martínez Bugallo ,&nbsp;Mario Andrés González-Carracedo ,&nbsp;José Antonio Pérez-Pérez","doi":"10.1016/j.gene.2025.149741","DOIUrl":"10.1016/j.gene.2025.149741","url":null,"abstract":"<div><h3>Introduction</h3><div>Certain variants in the <em>SERPINA1</em> gene cause Alpha-1 antitrypsin deficiency (AATD). Null <em>SERPINA1</em> alleles result in the full absence of circulating AAT, which increases the severity of AATD-related respiratory illnesses. <em>PI*S</em>-plus alleles are the combination <em>in cis</em> of the <em>PI*S</em> allele with another variant that confers more deleterious features to the haplotype.</div></div><div><h3>Methods</h3><div>A 51-year-old woman with respiratory symptoms and low serum AAT level (51.6 mg/dl; 9.9 µmol/L) was genotyped by real-time PCR and by standard PCR coupled to Sanger sequencing. AAT phenotype was determined by isoelectric focusing. Haplotype phasing was performed using long-read sequencing. <em>SERPINA1</em> expression was analyzed by RT-PCR.</div></div><div><h3>Results</h3><div>Despite the patient was heterozygous for the S variant, exhibited a PiM phenotype. Genetic analysis revealed a heterozygous 8-bp duplication (c.250_257dup) in <em>SERPINA1</em> exon 2, causing a frameshift in the coding region and the appearance of a premature stop codon (p.Met87Profs*21). Long-read sequencing revealed that this variant was found <em>in cis</em> with the S variant, yielding a novel <em>PI*S</em>-plus null allele, designated <em>PI*Q0<sub>Tegueste</sub></em>. RNA analysis showed the absence of transcripts from this allele, indicating degradation via nonsense-mediated mRNA decay.</div></div><div><h3>Conclusion</h3><div><em>PI*Q0<sub>Tegueste</sub></em> is a novel <em>PI*S</em>-plus null allele causing AATD through degradation of <em>SERPINA1</em> mRNA. Our finding highlights the importance of combining standard genotyping and haplotype reconstruction for accurate AATD diagnosis, especially when a compound heterozygous for deleterious variants is detected.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149741"},"PeriodicalIF":2.4,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921283","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
PIK3C3 influences immune cell function by modulating autophagy to exert anti-inflammatory effects in sepsis PIK3C3通过调节自噬影响免疫细胞功能,在脓毒症中发挥抗炎作用
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-30 DOI: 10.1016/j.gene.2025.149732
Jiangming Wei , Fanghua Xu , Xiaobo Wei , Jun Zhao , Jianhua Liu
{"title":"PIK3C3 influences immune cell function by modulating autophagy to exert anti-inflammatory effects in sepsis","authors":"Jiangming Wei ,&nbsp;Fanghua Xu ,&nbsp;Xiaobo Wei ,&nbsp;Jun Zhao ,&nbsp;Jianhua Liu","doi":"10.1016/j.gene.2025.149732","DOIUrl":"10.1016/j.gene.2025.149732","url":null,"abstract":"<div><div>Sepsis is a syndrome caused by an imbalance in the host’s immune response to pathogen infection, which can lead to systemic multiple organ dysfunction. Its pathological mechanisms are complex, and there are no specific biomarkers or targeted therapeutic drugs available. Recent investigations have revealed that phosphatidylinositol 3-kinase class III (PIK3C3/VPS34), a key regulator of autophagy, plays a critical immunomodulatory role. Specifically, PIK3C3 influences the activation, proliferation, survival, and apoptosis of immune cells. However, the precise mechanistic contribution of PIK3C3 to the pathogenesis of sepsis remains incompletely understood, with existing studies largely emphasizing its autophagy-related functions. Therefore, this review provides a comprehensive overview of PIK3C3 expression and function in immune cells, focusing on elucidating the molecular signaling pathways through which it modulates cellular metabolism and function via autophagy. By integrating our current understanding of immune cell involvement in the pathophysiology of sepsis, we propose that targeting PIK3C3 may represent a promising immunotherapeutic strategy to restore immune homeostasis and improve clinical outcomes in sepsis. This approach may offer novel avenues for the prevention and management of this life-threatening condition.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149732"},"PeriodicalIF":2.4,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144932384","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
Study on the pathogenesis of vascular dementia by gene expression regulatory network 血管性痴呆发病机制的基因表达调控网络研究
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-29 DOI: 10.1016/j.gene.2025.149749
Hua Bai
{"title":"Study on the pathogenesis of vascular dementia by gene expression regulatory network","authors":"Hua Bai","doi":"10.1016/j.gene.2025.149749","DOIUrl":"10.1016/j.gene.2025.149749","url":null,"abstract":"<div><div>Vascular dementia (VaD) is the second largest type of dementia in the world after Alzheimer’s disease, characterized by selective loss of neurons caused by cerebrovascular disease, dysfunction of cortical subcortical circuits, and cognitive domain specific damage. This article systematically analyzes some gene expression regulation issues in VaD pathogenesis from five dimensions: abnormal gene expression profile, epigenetic modification abnormality, transcription factor (TF) cascade regulation, non coding RNA (ncRNA) regulatory axis disorder, and gene environment interaction. For the first time, the “Dynamic Imbalance Theory of Gene Regulation Network” (DIGRN) is proposed. By integrating transcriptomics, epigenomics, proteomics, and clinical sample analysis, the key roles of abnormal DNA methylation, histone modification imbalance, transcription factor cascade activation, miRNA lncRNA regulatory axis disruption, and synergistic effects of environmental factors in VaD pathology were revealed. The DIGRN theory provides a new framework for early diagnosis, molecular typing, and targeted intervention of VaD. Its clinical translation prospects involve epigenetic drug development, ncRNA biomarker screening, and construction of gene environment interaction risk prediction models.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149749"},"PeriodicalIF":2.4,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921282","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
Exploratory Genome-Wide association study of blood urea nitrogen levels in elite Chinese winter sports athletes 中国优秀冬季运动运动员血尿素氮水平的探索性全基因组关联研究
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-27 DOI: 10.1016/j.gene.2025.149735
Tao Mei , Yanchun Li , Dapeng Bao , Xiaolin Yang , Zihong He
{"title":"Exploratory Genome-Wide association study of blood urea nitrogen levels in elite Chinese winter sports athletes","authors":"Tao Mei ,&nbsp;Yanchun Li ,&nbsp;Dapeng Bao ,&nbsp;Xiaolin Yang ,&nbsp;Zihong He","doi":"10.1016/j.gene.2025.149735","DOIUrl":"10.1016/j.gene.2025.149735","url":null,"abstract":"<div><h3>Background</h3><div>Blood urea nitrogen (BUN) is a widely used biochemical marker of nitrogen metabolism and physiological status in athletes. While it is relevant to exercise physiology and training monitoring, the genetic basis of inter-individual variation in BUN levels remains unclear, particularly in elite athletic populations. This study aimed to explore potential genetic variants associated with BUN levels in elite Chinese winter sports athletes.</div></div><div><h3>Methods and Results</h3><div>A total of 482 athletes were recruited and classified as elite or non-elite. Blood samples were collected under standardized fasting and recovery-phase conditions. BUN levels were measured, and genome-wide genotyping and whole-genome sequencing were performed. After quality control and imputation, genome-wide association analysis (GWAS) was conducted using PLINK v1.9, adjusting for sex, sport, and population structure. No variants reached the conventional genome-wide significance threshold (P &lt; 5 × 10<sup>-8</sup>). At an exploratory threshold (P &lt; 1 × 10<sup>-5</sup>), 27 single nucleotide polymorphisms (SNPs) were identified, each explaining 3.33–9.28 % of the variance. Functional annotation using Ensembl VEP and GTEx indicated that most loci were located in non-coding regions, with several acting as expression or splicing quantitative trait loci (eQTLs/sQTLs) in skeletal muscle, thyroid, or blood. Pathway enrichment analysis via Reactome suggested involvement of inositol phosphate metabolism, collagen degradation, and IGF transport and uptake pathways.</div></div><div><h3>Conclusions</h3><div>This exploratory GWAS identified candidate genetic loci and pathways potentially related to BUN regulation in elite winter sports athletes. These findings provide preliminary insights into the molecular mechanisms underlying nitrogen metabolism in this population. Given the absence of genome-wide significance and replication, the results are hypothesis-generating and require confirmation in larger, independent, and more diverse cohorts.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149735"},"PeriodicalIF":2.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144919860","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
Cetacean-specific GPR12 mutation is functionally associated with blubber thickening 鲸类动物特异性GPR12突变与鲸脂增厚在功能上相关
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-27 DOI: 10.1016/j.gene.2025.149734
Yuehua Wang , Qian Zhang , Guiping Xu , Hang Zhang , XianYi Liu , Guang Yang
{"title":"Cetacean-specific GPR12 mutation is functionally associated with blubber thickening","authors":"Yuehua Wang ,&nbsp;Qian Zhang ,&nbsp;Guiping Xu ,&nbsp;Hang Zhang ,&nbsp;XianYi Liu ,&nbsp;Guang Yang","doi":"10.1016/j.gene.2025.149734","DOIUrl":"10.1016/j.gene.2025.149734","url":null,"abstract":"<div><h3>Background</h3><div>To cope with thermal challenges of aquatic environments, marine mammals, including cetaceans, sirenians, and pinnipeds, independently evolved a substantially thickened subcutaneous blubber layer compared to terrestrial relatives. The blubber is a specialized adipose tissue layer under the skin of marine mammals and is vital for heat insulation, energy storage, buoyancy control and enhancement of locomotion. However, the molecular evolutionary mechanism underlying blubber thickening remains largely unexplored.</div></div><div><h3>Results</h3><div>An evolutionary analysis of the mammalian <em>GPR12</em> gene was conducted to identify a cetacean-specific amino acid substitution that is absent in any other mammals. <em>In vitro</em> cellular experiments suggested that this amino acid substitution could reduce the expression of adipose triglyceride lipase (ATGL) and thereby decrease lipolytic activity.</div></div><div><h3>Conclusions</h3><div>This study uncovered critical genetic signals which could influence lipolysis capacity in cetaceans and might have been the evolutionary mechanism underlying the blubber thickening in cetaceans during secondary aquatic adaptation.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149734"},"PeriodicalIF":2.4,"publicationDate":"2025-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144921407","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
Genetic diversity and natural selection of cell-traversal protein for ookinetes and sporozoites (CelTOS) in Plasmodium falciparum isolates from Vietnam 越南恶性疟原虫分离株卵孢子子细胞穿越蛋白的遗传多样性和自然选择
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-25 DOI: 10.1016/j.gene.2025.149731
Tuấn Cường Võ , Hương Giang Lê , Jung-Mi Kang , Nguyen Thi Minh Trinh , Minkyoung Cho , Youn-Kyoung Goo , Huynh Hong Quang , Byoung-Kuk Na
{"title":"Genetic diversity and natural selection of cell-traversal protein for ookinetes and sporozoites (CelTOS) in Plasmodium falciparum isolates from Vietnam","authors":"Tuấn Cường Võ ,&nbsp;Hương Giang Lê ,&nbsp;Jung-Mi Kang ,&nbsp;Nguyen Thi Minh Trinh ,&nbsp;Minkyoung Cho ,&nbsp;Youn-Kyoung Goo ,&nbsp;Huynh Hong Quang ,&nbsp;Byoung-Kuk Na","doi":"10.1016/j.gene.2025.149731","DOIUrl":"10.1016/j.gene.2025.149731","url":null,"abstract":"<div><div><em>Plasmodium falciparum</em> cell-traversal protein for ookinetes and sporozoites (PfCelTOS) plays a crucial role in the parasite’s life cycle at both vector and human liver stages and is a potential vaccine candidate impacting various phases of the parasite’s life cycle. However, current knowledge about the genetic diversity and evolutionary trend of this gene, which could impede the development of effective vaccines based on this protein, remains greatly limited. In this study, genetic diversity and natural selection in Vietnamese <em>pfceltos</em> were analyzed. Blood samples were collected from <em>P. falciparum</em>-infected malaria patients in three malaria-endemic provinces of Vietnam (Dak Lak, Gia Lai, and Phu Yen) between 2018 and 2022. A total of 366 <em>pfceltos</em> sequences were obtained from 366 Vietnamese <em>P. falciparum</em> isolates. Twenty-nine polymorphic amino acid changes were identified in the Vietnamese <em>pfceltos</em>. Four amino acid substitutions, K100N, S104L, F117V, and N119K, were commonly detected in Vietnam <em>pfceltos</em> populations. Although Vietnamese <em>pfceltos</em> sequences revealed a low genetic diversity, geographical differences were also found. Dak Lak <em>pfceltos</em> showed a greater genetic diversity than those from Gia Lai and Phu Yen, and displayed different population structure. This study highlights the limited genetic diversity of <em>pfceltos</em> in Vietnamese <em>P. falciparum</em>, with slight regional differences in genetic diversity and natural selection profiles identified. The relatively low genetic diversity and tight conservation of biologically significant amino acids in Vietnamese <em>pfceltos</em> sequences highlight PfCelTOS’s potential as an attractive vaccine candidate; however, further genetic analysis of global <em>pfceltos</em> populations is essential to better understand the genetic basis of this vaccine candidate.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"968 ","pages":"Article 149731"},"PeriodicalIF":2.4,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144903329","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 and pathological significance of variants in the promoter region of ACTC1 gene in congenital ventricular septal defect 先天性室间隔缺损ACTC1基因启动子区变异的鉴定及病理意义
IF 2.4 3区 生物学
Gene Pub Date : 2025-08-21 DOI: 10.1016/j.gene.2025.149733
Zi-Fei Zheng , Huan-Xin Chen , Jia-Le Qi , Zhuo Chen , Qin Yang , Guo-Wei He
{"title":"Identification and pathological significance of variants in the promoter region of ACTC1 gene in congenital ventricular septal defect","authors":"Zi-Fei Zheng ,&nbsp;Huan-Xin Chen ,&nbsp;Jia-Le Qi ,&nbsp;Zhuo Chen ,&nbsp;Qin Yang ,&nbsp;Guo-Wei He","doi":"10.1016/j.gene.2025.149733","DOIUrl":"10.1016/j.gene.2025.149733","url":null,"abstract":"<div><div>Ventricular septal defect (VSD) is one of the most common congenital heart diseases, but the role of variants at the <em>ACTC1</em> gene promoter region in VSD is unclear. We investigated variants in the promoter region of <em>ACTC1</em> gene in 627 subjects (309 sporadic VSD patients and 318 healthy controls) by Sanger sequencing and 6 variants including 1 novel heterozygous variant [g.5163 T &gt; A] were identified. Of the 6 variants, 3 were found only in VSD patients. In mouse cardiomyocytes (HL-1), the transcriptional activity of the <em>ACTC1</em> gene promoter was significantly changed by the variants (<em>p</em> &lt; 0.05). Electrophoretic mobility shift assay results and JASPAR database analysis indicated that these variants may affect the transcription of the <em>ACTC1</em> gene by influencing the binding ability of transcription factors, thus potentially contributing to the formation of VSD. This study provides a new perspective for the genetic and molecular mechanism of variants of the promoter region of <em>ACTC1</em> gene in the pathogenesis of VSD.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"967 ","pages":"Article 149733"},"PeriodicalIF":2.4,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144892270","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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