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Predictive analysis of the impact of probiotic administration during pregnancy on the functional pathways of the gut microbiome in healthy infants based on 16S rRNA gene sequencing 基于16S rRNA基因测序的妊娠期益生菌给药对健康婴儿肠道微生物功能通路影响的预测分析
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-12 DOI: 10.1016/j.gene.2025.149414
Guangyu Ma , Yang Chai , Kian Deng Tye , Haishan Xie , Lulu Meng , Xiaomei Tang , Huijuan Luo , Xiaomin Xiao
{"title":"Predictive analysis of the impact of probiotic administration during pregnancy on the functional pathways of the gut microbiome in healthy infants based on 16S rRNA gene sequencing","authors":"Guangyu Ma ,&nbsp;Yang Chai ,&nbsp;Kian Deng Tye ,&nbsp;Haishan Xie ,&nbsp;Lulu Meng ,&nbsp;Xiaomei Tang ,&nbsp;Huijuan Luo ,&nbsp;Xiaomin Xiao","doi":"10.1016/j.gene.2025.149414","DOIUrl":"10.1016/j.gene.2025.149414","url":null,"abstract":"<div><div>Maternal probiotic supplementation altered the microbial composition in infants’ gut, yet its effect on the functional pathways of the microbiota remains unclear. This study aimed to explore the potential impact of maternal probiotic intake on the predicted functional pathways of the gut microbiome in healthy infants. A total of 24 pregnant women were randomly allocated to either the control group or the probiotic group. The women in the probiotic group began receiving probiotics at the 32nd week of pregnancy and continued until delivery. Meconium and fecal samples were collected from infants at birth, as well as on the 3rd day, 14th day, and 6th month after birth. The functional characteristics of the microbial community were inferred using 16S rRNA gene analysis, processed with PICRUSt software, and cross-referenced with the KEGG database. The probiotic group had lower levels of <em>Actinobacteria</em> and <em>Bacteroidetes</em>, while <em>Bifidobacterium</em> growth was notably increased in the infant gut microbiota. At day 0 postpartum, the control group exhibited higher levels of <em>Prevotellaceae</em> compared to the probiotic group (<em>P</em> &lt; 0.05). However, no significant differences were found by day 3. At day 14, the control group exhibited higher levels of <em>Bacteroidaceae</em> and <em>Bacteroides</em>, while <em>Bacteroides_thetaiotaomicron</em> was more abundant in the probiotic group (<em>P</em> &lt; 0.05). By 6 months, the control group showed a higher abundance of <em>Firmicutes</em> (<em>P</em> &lt; 0.05). On day 0 postpartum, maternal probiotic consumption increased the Environmental information processing pathway at KEGG Level 1, and increased Energy metabolism, Metabolism of cofactors and vitamins, and Cell growth and death pathways at KEGG Level 2. It also increased Histidine metabolism, One carbon pool by folate, and Folate biosynthesis at KEGG Level 3. No changes were observed in the infant gut microbiota’s functional metabolic pathways at 3 days postpartum. At 14 days postpartum, probiotics reduced Lipid metabolism pathways at KEGG Level 2 and the Citrate cycle at KEGG Level 3. At 6 months postpartum, probiotics decreased Carbohydrate metabolism pathways at KEGG Level 2. Our findings suggest that probiotic supplementation during pregnancy affects the functional metabolism of the gut microbiota in healthy infants. This, in turn, may influence the development of the infant’s immune system, metabolism, and overall health by modifying the gut microbial environment.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"952 ","pages":"Article 149414"},"PeriodicalIF":2.6,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620821","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
Investigation on the association between Osteopontin and Apolipoprotein E gene polymorphisms and vancomycin-induced acute kidney injury: A pharmacokinetic/pharmacogenetic study in critically ill patients 骨桥蛋白和载脂蛋白E基因多态性与万古霉素诱导的急性肾损伤的相关性研究:危重患者药代动力学/药理学研究
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-11 DOI: 10.1016/j.gene.2025.149386
Negar Firouzabadi , Dorsa Karbasi , Parisa Ghasemiyeh , Farzaneh Sadeghi , Nahid Alimoradi , Maryam Kavousi , Soliman Mohammadi-Samani
{"title":"Investigation on the association between Osteopontin and Apolipoprotein E gene polymorphisms and vancomycin-induced acute kidney injury: A pharmacokinetic/pharmacogenetic study in critically ill patients","authors":"Negar Firouzabadi ,&nbsp;Dorsa Karbasi ,&nbsp;Parisa Ghasemiyeh ,&nbsp;Farzaneh Sadeghi ,&nbsp;Nahid Alimoradi ,&nbsp;Maryam Kavousi ,&nbsp;Soliman Mohammadi-Samani","doi":"10.1016/j.gene.2025.149386","DOIUrl":"10.1016/j.gene.2025.149386","url":null,"abstract":"<div><div>Vancomycin is a commonly administered antibiotic for various Gram-positive infections in critically ill patients. Vancomycin has a narrow therapeutic index and its main adverse drug reaction is acute kidney injury (AKI). In this regard, various pharmacokinetic parameters have been widely considered for therapeutic drug monitoring (TDM) purposes. Higher vancomycin trough concentration and area under the curve (AUC) values would be associated with higher rates of AKI. Therefore, dose adjustment based on targeted pharmacokinetic values would be essential to avoid toxicity and achieve optimal clinical response. However, there are numerous reports regarding the discrepancy between pharmacokinetic parameter values and AKI. In this regard, we examined the possible role of pharmacogenetics in vancomycin-induced AKI to distinguish patients who are genetically prone to AKI. In this cross-sectional study, polymorphisms of osteopontin (OPN) and Apolipoprotein E (APOE) along with pharmacokinetic parameters were assessed in 87 critically ill patients admitted to ICU wards and received vancomycin. The results indicated a significant difference in OPN and APOE genotype distribution between AKI and non-AKI patients (P = 0.001 and 0.02, respectively). Stepwise multivariate logistic regression analysis showed that patients with e2e3 genotype were 4.2-fold more prone to AKI (P = 0.029; OR = 4.2; 95 %CI = 1.2–15.7). Moreover, there was a significant correlation between pharmacokinetic parameters (calculated trough concentration, AUCτ, AUC<sub>24h</sub>, and t<sub>1/2</sub>) and vancomycin-induced AKI. Genotyping the patients for OPN and APOE polymorphisms before vancomycin initiation would be promising as a routine clinical practice to obtain an efficient clinical response and prevent vancomycin-induced AKI, especially in critically ill patients.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"952 ","pages":"Article 149386"},"PeriodicalIF":2.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143620820","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 pan-cancer analysis of small nucleolar RNA host gene 14 (SNHG14) in human tumors 人类肿瘤小核仁RNA宿主基因14 (SNHG14)的泛癌分析
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-10 DOI: 10.1016/j.gene.2025.149410
Chencheng Feng , Qianru Li , Mengyao Lv , Qiang Ji , Haoming Ye , Su Jiang , Min Shao , Qian Shao , Limian Cao
{"title":"A pan-cancer analysis of small nucleolar RNA host gene 14 (SNHG14) in human tumors","authors":"Chencheng Feng ,&nbsp;Qianru Li ,&nbsp;Mengyao Lv ,&nbsp;Qiang Ji ,&nbsp;Haoming Ye ,&nbsp;Su Jiang ,&nbsp;Min Shao ,&nbsp;Qian Shao ,&nbsp;Limian Cao","doi":"10.1016/j.gene.2025.149410","DOIUrl":"10.1016/j.gene.2025.149410","url":null,"abstract":"<div><div>Long non-coding RNAs (lncRNAs) are associated with tumorigenesis and progression. One of these, short nucleolar RNA host gene 14 (SNHG14), has exhibited significant prognostic value due to its aberrant expression across various tumor types. This study investigates the expression patterns, survival outcomes, and tumor stages associated with SNHG14 across various cancers, employing data from the Genotype-Tissue Expression and The Cancer Genome Atlas databases. The Cancer Genome Atlas database showed SNHG14 overexpression in five tumor types and downregulation in 15 tumor types compared to<!--> <!-->normal tissues. In particular, patients with increased SNHG14 expression had reduced overall survival with mesothelioma and stomach adenocarcinoma. A comprehensive literature review was conducted to explore SNHG14′s upstream regulators and downstream target genes, shedding light on its role in tumorigenesis. The review underscores that SNHG14 is frequently overexpressed in numerous cancers and predominantly functions as an oncogene. SNHG14 exerts its effects by regulating various microRNAs, which subsequently modulate the expression of target genes and influence critical signaling pathways involved in tumor development and progression. Furthermore, biotin-DNA pulldown coupled with mass spectrometry identified several transcription factors, including c-Myc and CEBPB, as key regulators of SNHG14 transcription. These findings highlight the intricate transcriptional regulation of SNHG14 and its potential involvement in cancer-related processes. In this study, we systematically elucidated the upstream transcriptional regulators and downstream signaling pathways of SNHG14, providing novel insights into its critical role in cancer biology. This comprehensive research highlights SNHG14 as an effective biomarker for prognosis and a target for treating cancer.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"951 ","pages":"Article 149410"},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143610597","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
Analyzing the role of genetic variants in microRNAs and its role as a modulator towards Chronic Obstructive Pulmonary disease (COPD) susceptibility in North Indian population 分析microrna遗传变异的作用及其在北印度人群中作为慢性阻塞性肺疾病(COPD)易感性调节剂的作用
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-10 DOI: 10.1016/j.gene.2025.149413
Anmol Bhatia , Atul Kumar Upadhyay , Kranti Garg , Vishal Chopra , Siddharth Sharma
{"title":"Analyzing the role of genetic variants in microRNAs and its role as a modulator towards Chronic Obstructive Pulmonary disease (COPD) susceptibility in North Indian population","authors":"Anmol Bhatia ,&nbsp;Atul Kumar Upadhyay ,&nbsp;Kranti Garg ,&nbsp;Vishal Chopra ,&nbsp;Siddharth Sharma","doi":"10.1016/j.gene.2025.149413","DOIUrl":"10.1016/j.gene.2025.149413","url":null,"abstract":"<div><h3>Background</h3><div>miRNAs can target numerous genes, with slight expression changes potentially leading to significant alterations in protein-coding gene expression, affecting various biological processes and possibly worsening conditions like COPD.</div></div><div><h3>Objectives</h3><div>This study examines the link between six miRNA SNPs (<em>MIR605</em>, <em>MIR608</em>, <em>MIR3117</em>, <em>MIR149</em>, <em>MIR499</em>, and <em>MIR25</em>) and COPD risk in a North Indian population and the functional impact of these miRNA-SNPs on COPD-related pathological factors.</div></div><div><h3>Materials and Methods</h3><div>To assess genotypes, a case-control study was conducted with 323 COPD cases and 350 hospital controls. Logistic regression determined the odds ratio and 95% confidence interval for the SNP-COPD association, with stratified analysis for clinical parameters, symptoms, and risk factors. SNP-SNP interactions were analyzed using combinatorial analysis, MDR, and CART analysis.</div></div><div><h3>Results</h3><div><em>MIR25</em> SNP rs1527423 and <em>MIR608</em> SNP rs4919510 were significantly associated with COPD risk (OR = 6.38; p &lt; 0.0001 and OR = 1.43, p = 0.02, respectively). rs1527423 remained significant in stratified analysis for age (OR = 6.19; pc = 0.0005), gender (males; OR = 5.93; pc &lt; 0.0001), and smoking status (smokers; OR = 5.02; pc = 0.0006). rs4919510 was associated with COPD risk in patients aged ≥ 65 years (OR = 2.38, pc = 0.0054). <em>MIR605</em> SNP rs2043556 had a protective effect in non-smokers (OR = 0.142; pc = 0.048). <em>MIR3117</em> SNP rs4655646 was linked to COPD symptoms. Doublet combinations of each SNP with rs1527423 increased COPD risk. CART analysis identified rs1527423 as a critical factor, with the genotypic combination of 149(M)-3117(M; W)-605(M; W)-608(M; H)-25(W) showing the highest COPD risk (OR = 11; p = 0.0445).</div></div><div><h3>Conclusions</h3><div>The study suggests <em>MIR25</em> SNP rs1527423 as a risk factor for COPD in North Indian populations.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"952 ","pages":"Article 149413"},"PeriodicalIF":2.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143611428","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
Effect of glucose supplementation on protein biosynthesis in chickens reared under thermoneutral or heat stress environment 补充葡萄糖对中温或热应激环境下饲养的鸡蛋白质生物合成的影响
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-08 DOI: 10.1016/j.gene.2025.149408
Josephine Kwakye , Oluwatomide W. Ariyo , Ahmed F.A. Ghareeb , Evan Hartono , Bikash Aryal , Selorm Sovi , Marie C. Milfort , Alberta L. Fuller , Romdhane Rekaya , Samuel E. Aggrey
{"title":"Effect of glucose supplementation on protein biosynthesis in chickens reared under thermoneutral or heat stress environment","authors":"Josephine Kwakye ,&nbsp;Oluwatomide W. Ariyo ,&nbsp;Ahmed F.A. Ghareeb ,&nbsp;Evan Hartono ,&nbsp;Bikash Aryal ,&nbsp;Selorm Sovi ,&nbsp;Marie C. Milfort ,&nbsp;Alberta L. Fuller ,&nbsp;Romdhane Rekaya ,&nbsp;Samuel E. Aggrey","doi":"10.1016/j.gene.2025.149408","DOIUrl":"10.1016/j.gene.2025.149408","url":null,"abstract":"<div><div>Heat stress (HS) impacts broilers by reducing feed intake which impairs nutrient availability and energy levels, subsequently affecting protein biosynthesis. We hypothesize that an exogenous supply of glucose could provide extra energy resources that enhance protein biosynthesis in broilers reared under HS. Our experimental design involved two levels of temperature (25 °C [thermoneutral, TN]); 35 °C (8.00 AM to 8.00 PM, [Heat Stress, HS]), and two glucose levels (0 % and 6 %). We randomly assigned a total of 456 four-week-old Cobb500 broilers to four different treatment groups (TN<sub>0</sub>, TN<sub>6</sub>, HS<sub>0</sub>, and HS<sub>6</sub>), respectively. After 7 days post-HS, we observed an inverse relationship between the avian target of rapamycin (<em>avTOR</em>) and autophagy-related genes. The phosphorylation of mTOR and S6K1 at Ser2448 and Thr421/Ser424 respectively was higher (p &lt; 0.05) in the TN<sub>0</sub> group than in the HS groups. Additionally, the phosphorylation of Foxo3a at Ser253 was higher (p &lt; 0.05) in the HS<sub>0</sub> group than in the HS<sub>6</sub> groups, indicating an adaptive response to HS. Thus, the combined effect of HS and glucose could influence the phosphorylation status of key signaling genes in the mTOR pathway. The expression levels of mRNA genes in the mTOR pathway were more pronounced (p &lt; 0.05) in HS<sub>6</sub> birds than in HS<sub>0</sub> birds except for <em>avTOR</em>, <em>Akt1</em>, and <em>S6K1</em>.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"951 ","pages":"Article 149408"},"PeriodicalIF":2.6,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596671","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}
引用次数: 0
An amino acid polymorphism in the membrane progesterone receptor alpha protein is tied to female sexual maturity in the large yellow croaker (Larimichthys crocea) 大黄鱼(Larimichthys crocea)膜孕酮受体α蛋白氨基酸多态性与雌性性成熟有关。
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-08 DOI: 10.1016/j.gene.2025.149409
Xiaoying Cao , Michael M. Miyamoto , Jigui Yuan , Prabodh K. Bajpai , Xuan Zhuang , Shaoxiong Ding
{"title":"An amino acid polymorphism in the membrane progesterone receptor alpha protein is tied to female sexual maturity in the large yellow croaker (Larimichthys crocea)","authors":"Xiaoying Cao ,&nbsp;Michael M. Miyamoto ,&nbsp;Jigui Yuan ,&nbsp;Prabodh K. Bajpai ,&nbsp;Xuan Zhuang ,&nbsp;Shaoxiong Ding","doi":"10.1016/j.gene.2025.149409","DOIUrl":"10.1016/j.gene.2025.149409","url":null,"abstract":"<div><div>Progesterone is a major steroid hormone of vertebrates, which regulates many different physiological functions. This study reports on a radical amino acid exchange of an aromatic phenylalanine (F) or tyrosine (Y) with an aliphatic leucine (L) in the membrane progesterone receptor alpha protein of large yellow croaker (<em>Larimichthys crocea</em>), one of the important fishery species in the Northwest Pacific Ocean that is now critically endangered due to overfishing. This derived radical exchange is associated in wild Chinese populations with a slower rate of seasonal sexual maturation by the females. Conversely, the L variant is missing in a farmed Chinese population. Different lines of evidence indicate (i) that the F/Y/L variation originated as an old balanced polymorphism for variable female seasonal spawning and (ii) that this balance has been recently disrupted by human-induced selection due to the overfishing and domestication of this species. Our study provides another test case of how point mutations at the nucleotide level can affect the phenotypes of individuals, and thereby, the evolutionary dynamics of their populations.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"951 ","pages":"Article 149409"},"PeriodicalIF":2.6,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596670","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
Transcriptome analysis and lncRNA expression profile in brain tissues of neonatal hypoxic-ischemic brain damage rat model 新生儿缺氧缺血性脑损伤大鼠模型脑组织转录组分析及lncRNA表达谱。
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-08 DOI: 10.1016/j.gene.2025.149363
Limin Wang , Yanni Gu , Chaobin Shen
{"title":"Transcriptome analysis and lncRNA expression profile in brain tissues of neonatal hypoxic-ischemic brain damage rat model","authors":"Limin Wang ,&nbsp;Yanni Gu ,&nbsp;Chaobin Shen","doi":"10.1016/j.gene.2025.149363","DOIUrl":"10.1016/j.gene.2025.149363","url":null,"abstract":"<div><h3>Background and Objective</h3><div>Neonatal hypoxic-ischemic encephalopathy (HIE) remains a critical challenge in perinatal medicine. This study aimed to elucidate the transcriptomic landscape, focusing on long non-coding RNAs (lncRNAs) expression patterns in the brain tissues of a neonatal rat model of HIE.</div></div><div><h3>Methodology</h3><div>We employed a modified Rice-Vannucci model to induce HIE in postnatal day 4 (P4) rats. The experimental groups were subjected to either 5 or 7 min of hypoxia (0 % O<sub>2</sub>, 100 % N<sub>2</sub>), while control animals were exposed to normoxic conditions.</div></div><div><h3>Results</h3><div>RNA sequencing revealed a complex transcriptomic landscape in HIE brains, with approximately 80 million differentially expressed lncRNAs compared to controls. ELISA results demonstrated a significant upregulation of pro-inflammatory cytokines (IL-1β, IL-6, TNF-α) and a concomitant decrease in anti-inflammatory IL-10 levels in brain tissue of HIE rats. qRT-PCR analysis revealed aberrant expression of several miRNAs. Biochemical assays indicated a marked reduction in superoxide dismutase (SOD) activity and an increase in malondialdehyde (MDA) content in HIE brain tissues.</div></div><div><h3>Conclusions</h3><div>This study highlights the potential regulatory roles of lncRNAs in HIE brains. The intricate interplay between lncRNAs, miRNAs, and mRNAs and alterations in inflammatory and oxidative stress markers suggests a complex regulatory network governing HIE pathogenesis.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"952 ","pages":"Article 149363"},"PeriodicalIF":2.6,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596672","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
OsCHR728 encodes a chromatin remodeling factor involved in seed size and grain chalkiness in rice OsCHR728编码一种与水稻种子大小和籽粒白垩度有关的染色质重塑因子。
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-07 DOI: 10.1016/j.gene.2025.149396
Yuxin Song , Jieni Li , Xin Luan , Ao Li , Na Liu , Zhi-Hao Wu , Weifeng Yang , Wanzhen Gao , Xia Zheng , Xiang-Qian Zhang
{"title":"OsCHR728 encodes a chromatin remodeling factor involved in seed size and grain chalkiness in rice","authors":"Yuxin Song ,&nbsp;Jieni Li ,&nbsp;Xin Luan ,&nbsp;Ao Li ,&nbsp;Na Liu ,&nbsp;Zhi-Hao Wu ,&nbsp;Weifeng Yang ,&nbsp;Wanzhen Gao ,&nbsp;Xia Zheng ,&nbsp;Xiang-Qian Zhang","doi":"10.1016/j.gene.2025.149396","DOIUrl":"10.1016/j.gene.2025.149396","url":null,"abstract":"<div><div>The Imitation Switch (ISWI)ATP-dependent chromatin remodeling factor proteins regulate various developmental processes, spanning from flowering to stress response. However, researches on the roles of ISWI subfamily genes in rice have been limited. This study investigated the expression profile of the rice chromatin remodeler <em>OsCHR728</em>, encoding an ISWI protein, across various tissues and developing stages. Our findings reveal that <em>OsCHR728</em> is highly accumulated during early stage of the panicle development. We generated <em>OsCHR728</em> knockout (KO) lines in rice using CRISPR/Cas9 technology. These mutant lines displayed smaller grain size compared to the wild type (Zhonghua 11, ZH11). Expression analysis revealed a significant downregulation of the transcript levels of five genes associated with cell cycle regulation in KO grains compared to the wild type, consistent with the reduced cell number in the mutant grains. Additionally, total free amino acid levels were higher in the KO mutant compared to the wild type, consequently enhancing the nutritional quality of the KO mutant grains. The mature endosperm of the KO mutant exhibited a reduced percentage of chalky grains and less chalkiness, suggesting an improvement in the appearance quality of the KO mutant. These results suggest that chromatin remodeling factor <em>OsCHR728</em> plays a role in grain development, potentially providing a new avenue to enhance both the appearance and nutritional quality of rice cultivars.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"951 ","pages":"Article 149396"},"PeriodicalIF":2.6,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585294","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
RNA editing applied to cystic fibrosis: RESTORE can target G542X CFTR mRNA and revert the nonsense mutation RNA编辑在囊性纤维化中的应用:RESTORE可以靶向G542X CFTR mRNA并恢复无义突变
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-05 DOI: 10.1016/j.gene.2025.149384
Simona Titoli , Viviana Barra , Serena Gargano , Aldo Di Leonardo , Raffaella Melfi
{"title":"RNA editing applied to cystic fibrosis: RESTORE can target G542X CFTR mRNA and revert the nonsense mutation","authors":"Simona Titoli ,&nbsp;Viviana Barra ,&nbsp;Serena Gargano ,&nbsp;Aldo Di Leonardo ,&nbsp;Raffaella Melfi","doi":"10.1016/j.gene.2025.149384","DOIUrl":"10.1016/j.gene.2025.149384","url":null,"abstract":"<div><h3>Background</h3><div>Nonsense mutations in the CFTR gene are responsible for approximately 8 % of cystic fibrosis (CF) cases worldwide. The consequent premature termination of translation leads to the production of a truncated and non-functional CFTR protein. Despite the intensive research in the field, these patients cannot benefit from specific and approved therapies yet. To address this issue, in this study we evaluated a potential therapeutic strategy to overcome the nonsense G542X (UGG &gt; UGA) mutation in the CFF-16HBEge human bronchial epithelial cells by restoring the full-length CFTR protein.</div></div><div><h3>Methods</h3><div>We applied the RESTORE (Recruiting endogenous ADAR to specific transcripts for oligonucleotide-mediated RNA editing) approach, based on specifically designed antisense RNA oligonucleotides (ASOs) to recruit endogenous ADAR (adenosine deaminase acting on RNA) enzymes. The ADAR’s recruitment to the target CFTR mRNA is expected to promote the deamination of adenosine (A) into inosine (I) within the premature termination codon (UGA). As the ribosome reads the inosine as guanosine (G), the stop codon could be recoded as a tryptophan (UGG), thereby allowing the synthesis of a full-length CFTR protein, albeit with a different amino acid.</div></div><div><h3>Results</h3><div>Our results indicate that in the CFF-16HBEge G542X cell line, the transfection of a specific ASO allows the rescue of the CFTR transcript and protein expression, compared to the untransfected mutated cells. Next generation sequencing of CFTR cDNA also confirmed the occurrence of the expected RNA editing outcome.</div></div><div><h3>Conclusions</h3><div>The obtained results suggest that the RESTORE approach might be explored as a promising strategy to treating nonsense mutations in <em>CFTR</em>, potentially contributing to novel therapeutic options for CF patients.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"951 ","pages":"Article 149384"},"PeriodicalIF":2.6,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143578553","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}
引用次数: 0
miRNAs in oral cancer; diagnostic and prognostic roles 口腔癌中的mirna;诊断和预后的作用。
IF 2.6 3区 生物学
Gene Pub Date : 2025-03-04 DOI: 10.1016/j.gene.2025.149382
Kimia Arabi , Bahareh Nazemi Salman , Fatemeh Rahimzadeh-Bajgiran , Meysam Moghbeli , Sepehr Moghadas , Ehsan Saburi
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