Gene最新文献

{"title":"Crucial role of preserving umbilical cord stumps for genetic decoding of a family with rhabdoid tumor predisposition syndrome","authors":"Murugasamy Pradeepkumar ,&nbsp;Vignesh Kandhakumar ,&nbsp;Muniasamy Saravanan ,&nbsp;Mohandass Kaviya ,&nbsp;Mohan Gomathi","doi":"10.1016/j.gene.2025.149353","DOIUrl":"10.1016/j.gene.2025.149353","url":null,"abstract":"<div><h3>Background</h3><div>The Rhabdoid tumor is an aggressive tumor that is commonly found in infants and children with a prevalence of about, 0.6 in every 1 million children. The <em>SMARCB1</em> or <em>SMARCA4</em> gene mutations can result in Rhabdoid tumor predisposition syndrome 1 and 2 respectively. In Indian customs, dried umbilical cord stumps that had fallen off were stored to treat various illnesses, including infertility.</div></div><div><h3>Aim and objective</h3><div>This study aims to unravel the mystery behind recurrent childhood loss in a family using umbilical cord stumps of the deceased children.</div></div><div><h3>Methodology</h3><div>We obtained the dried umbilical cord stumps of the deceased children, which were stored by their parents, as there was no genetic diagnosis performed on the children who passed away unexpectedly. Following DNA extraction from the parents’ and the umbilical cord stumps, whole exome sequencing analysis (WES) was performed.</div></div><div><h3>Results</h3><div>The WGS report showed a pathogenic germline mutation, Chr22:g.23791780; c.118C &gt; T; (p.Arg40Ter) in the <em>SMARCB1</em> gene causing Rhabdoid tumor predisposition syndrome 1, which was present in the children who passed away earlier. The mother was discovered to be a silent carrier with heterozygous mutant alleles, according to carrier screening and segregation analysis. Genetic counseling was given to the parents in light of the 50 % recurring risk in the foetus, and the continued pregnancy was determined to be normal. The diagnostic benefit of using dried umbilical cord stumps which are customarily retained by Indian parents who have had early childhood losses was demonstrated by this investigation.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149353"},"PeriodicalIF":2.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143508355","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}

{"title":"Association of genetic variation in the leptin-melanocortin system with drive for thinness in patients with eating disorders: A pilot study","authors":"Laura González-Rodríguez ,&nbsp;Luz María González ,&nbsp;Angustias García-Herráiz ,&nbsp;Sonia Mota-Zamorano ,&nbsp;Isalud Flores ,&nbsp;Guillermo Gervasini","doi":"10.1016/j.gene.2025.149364","DOIUrl":"10.1016/j.gene.2025.149364","url":null,"abstract":"<div><div>We aimed to investigate whether genetic variants in the leptin-melanocortin system involved in anorexigenic signaling influence personality dimensions and psychopathological symptoms in eating disorders (ED) patients. The population consisted of 309 ED patients [221 with anorexia nervosa (AN) and 88 with bulimia nervosa (BN)] and 396 healthy controls. Patients underwent psychometric assessment using the Eating Disorders Inventory Test-2 (EDI-2) and the Symptom Checklist 90 Revised (SCL-90R) questionnaires. Fourteen tag-SNPs in the <em>LEP</em>, <em>POMC</em>, and <em>MC4R</em> genes, were determined. <em>Drive for thinness</em> (DT) was significantly affected by genetic variability. After correction for multiple testing, regression models showed that AN patients carrying the <em>LEP</em> rs11761556 CC variant genotype scored higher in this scale than AA/CA carriers did [mean difference = 4.43 (2.18–6.68), p &lt; 0.001], although the significance was restrained to the restrictive subtype [4.92 (2.00–7.83), p = 0.001]. BN patients with the <em>LEP</em> rs10954173 AA genotype displayed lower scores [-8.7 (−12.31--3.91); p &lt; 0.001]. Finally, gene-gene interaction analyses revealed two SNP pairs associated with body-mass index in AN patients (<em>LEP</em>rs3828942-<em>POMC</em>rs1009388, p &lt; 0.001 and <em>LEP</em> rs11763517-<em>POMC</em>rs1009388, p = 0.002). Regarding DT scores, the <em>POMC</em>rs6545975-<em>LEP11763517</em> SNP pair showed the strongest effect (p &lt; 0.001) in AN<strong>.</strong> Genetic variants in the leptin-melanocortin system, may interact to influence personality dimensions in ED patients, which highlights the importance of considering genetic factors in the pathophysiology of these disorders.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"949 ","pages":"Article 149364"},"PeriodicalIF":2.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143509167","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}

{"title":"Divergent adaptation to highland and tropical environments in Bolivian Creole cattle","authors":"Olivia Marcuzzi ,&nbsp;Paulo Álvarez Cecco ,&nbsp;Leónidas H. Olivera ,&nbsp;Juan A. Pereira Rico ,&nbsp;Francisco Calcaterra ,&nbsp;Ariel Loza Vega ,&nbsp;Pilar Peral-García ,&nbsp;María E. Fernández ,&nbsp;Andrés Rogberg Muñoz ,&nbsp;Guillermo Giovambattista","doi":"10.1016/j.gene.2025.149354","DOIUrl":"10.1016/j.gene.2025.149354","url":null,"abstract":"<div><div>Bolivian Creole cattle populations evolved under low levels of breeding management and, during more than 500 years of natural selection, became adapted to various environments such as the contrasting highland and subtropical environments. Recently, highland Creole cattle were crossbred with Holstein to improve dairy production. The aim of this research was to evaluate the divergent adaptation through selection footprints of Bolivian Creole cattle from Andean highland and tropical lowlands, and to evaluate the effect of Holstein introgression in highland Creole. For this purpose, 130 Creole cattle (75 highland, 55 lowland) and 88 Holstein were genotyped using a microarray. The database was used to determine population structure and admixture and detect selection sweeps using F_ST, Rsb, XP-EHH, and ROH. Ancestry inference suggested that selection peaks were not due to Holstein introgression. The NCBI database was used to retrieve genes from the common regions and then perform gene ontology analysis. The most prominent selection peaks were on BTA20 and BTA23 and included the <em>PRLR</em> (slick phenotype) and <em>Class I</em> and <em>IIa BoLA</em> genes. Other windows contained candidate genes for hypoxia (<em>ANXA2</em>, <em>NDUFA4L2</em>), angiogenesis and haematological parameters (<em>ANXA2</em>, <em>CPLANE1</em>, <em>NRP1</em>, <em>NRP2</em>), immune response (<em>IL7R</em>, <em>IL6ST</em>, <em>IL31RA</em>, <em>C6</em>, <em>C7, STAT6</em>, <em>NKG2A</em>, <em>IRAK4</em>, <em>KLR, CLEC</em>), oxidative stress (<em>GSTA, HSD17B6</em>) and morphological traits (<em>PLAG1, CHCHD7</em>, <em>CAP2, ARL15)</em>. GO analysis revealed enrichment terms and pathways related to immune response, glutathione and retinol metabolism and reported QTLs for coat characteristics, immune response and tick resistance. The results suggest the complex mechanism in the adaptation of Bolivian Creole cattle to the contrasting highland and subtropical environments.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"949 ","pages":"Article 149354"},"PeriodicalIF":2.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523092","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}

{"title":"Characterization of Ribosome inactivating protein genes and their transcripts in Trialeurodes vaporariorum","authors":"Walter J. Lapadula,&nbsp;María Guadalupe Cañadas,&nbsp;Maximiliano Juri Ayub","doi":"10.1016/j.gene.2025.149356","DOIUrl":"10.1016/j.gene.2025.149356","url":null,"abstract":"<div><div>Ribosome-inactivating proteins (RIPs) are rRNA <em>N</em>-glycosylases (EC 3.2.2.22) that depurinate an adenine residue from the conserved alpha-sarcin/ricin loop in rRNA, blocking protein synthesis. In previous research, we demonstrated that whiteflies from the Aleyrodidae family (e.g., <em>Bemisia tabaci</em>), mosquitoes from the Culicinae subfamily (e.g., <em>Aedes aegypti</em>), and flies of Sciaroidea superfamily (e.g., <em>Contarinia nasturtii</em>) acquired these genes via three independent horizontal gene transfer events. The temporal expression profiles analyzed in mosquitoes and flies are consistent with the expected for immune effector molecules of insects. Notably, in <em>A. aegypti</em>, we found that these genes contribute to immunity. In whiteflies, codon analysis suggests that RIP genes have evolved under the influence of natural selection. Public transcriptomic experiments have shown that these genes are expressed in the adult stage of <em>B. tabaci</em>. Despite computational findings supporting RIP genes functionality in whiteflies, no experimental studies have been conducted. Furthermore, there is currently no publicly available RNA-seq data evaluating gene expression throughout ontogeny in the Aleyrodidae family. In this work, we experimentally demonstrated the presence of these foreign genes in the genome of <em>Trialeurodes vaporariorum</em>. We quantified their expression across the life cycle stages of this species and analyzed their untranslated regions. The results obtained contribute to a deeper understanding of the biological roles that these ribotoxin encoding genes may play in whiteflies and other insects.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149356"},"PeriodicalIF":2.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143508353","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}

{"title":"Detecting the distribution patterns of histone lactylation in the mouse testis at different developmental stages","authors":"Qian-Ni Li ,&nbsp;Fei-Chen Wang ,&nbsp;Zhen He ,&nbsp;Hai-Ping Tao ,&nbsp;Qi-En Yang","doi":"10.1016/j.gene.2025.149355","DOIUrl":"10.1016/j.gene.2025.149355","url":null,"abstract":"<div><div>Lactate is a key glycolytic metabolite that serves as an energy substance and signaling molecule. Lactylation, a recently characterized posttranslational modification (PTM), has been identified in histone and nonhistone proteins. Compelling evidence suggests that this lactate-related epigenetic modification potently regulates gene expression under physiological and pathological conditions. However, the distribution of this histone modification in the testis remains largely unknown. In this study, we investigated the expression dynamics of histone acetyltransferases (HATs), histone deacetylases (HDACs), and the lactate-regulating enzyme hexokinase 2 (HK2), and examined the cellular distribution of several types of histone lactylation, which have been identified as important for transcription and chromatin accessibility, in mouse testes during critical postnatal developmental stages. The results revealed that the expression levels of the lactylation-associated transcripts were developmentally regulated and that the histone lactylation, including H3K9la, H3K12la and H4K18la were present in spermatogenic and Sertoli cells at postnatal days (PD) 0, 6, 21, and 60. However, signals for H3K5la and H3K14la were not detected in gonocytes at PD0 and signal for H3K14la was not detected in mature Sertoli cells or spermatogonia of adult testes. Furthermore, a lack of lactate dehydrogenase a (<em>Ldha</em>) in Sertoli cells impacted the localization of several histone lactylation modifications in spermatogenic cells. Notably, H4K12la was specifically detected in zygotene and diplotene spermatocytes in the control testis, whereas it was present mainly in spermatogonia of <em>Lhda</em> Sertoli cell conditional knockout testis (<em>Ldha</em>-cKO). The results of this study lay a foundation for further understanding the role of lactylation modification in spermatogenesis and provide important data for further dissectting the role of Sertoli cell-derived lactate in germ cell development.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149355"},"PeriodicalIF":2.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143508354","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}

{"title":"Overcoming drug resistance in ovarian cancer through PI3K/AKT signaling inhibitors","authors":"Madhunika Agrawal ,&nbsp;Satyam Kumar Agrawal ,&nbsp;Kanwaljit Chopra","doi":"10.1016/j.gene.2025.149352","DOIUrl":"10.1016/j.gene.2025.149352","url":null,"abstract":"<div><div>Ovarian cancer has been identified as the eighth most typical gynaecological malignancy and cause of health problems in women. For almost forty years, platinum doublet chemotherapy has usually been the cornerstone of first-line treatment regimens. The effectiveness of conventional chemotherapy is severely hampered by relapse rates and mortality from chemotherapy resistance, which lead to the spread and recurrence of malignant cancers as well as poor outcomes in terms of quality of life in patients.</div><div>Drug resistance has been linked to several mechanisms, including increased drug efflux, decreased apoptosis, increased autophagy, and changed drug metabolism. Further, the dysregulation of tumor suppressors or oncogenes plays a crucial role in chemoresistance. Additionally, PI3K/AKT/mTOR signaling has been implicated in several <em>in vitro</em> as well as clinical studies as a significant contributor to chemotherapy resistance in case of ovarian cancer. This review discusses the potential of various crude extracts, synthetic molecules, and nanoformulations for targeting PI3K/AKT/mTOR pathway. Moreover, a range of clinical studies involving PI3K/AKT/mTOR inhibitors have been summed up, addressing both the promises and complexities associated with their use. Overall, the review aims to provide a roadmap for future investigations that could lead to improved therapeutic outcomes for patients suffering from ovarian cancer, emphasizing the urgent need for continued exploration of novel pathways and strategies to combat drug resistance.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149352"},"PeriodicalIF":2.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482743","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}

{"title":"Disrupted maxillofacial, cardiovascular, and nervous development in washc5 knockout Zebrafish: Insights into 3C syndrome","authors":"Luyao Wei ,&nbsp;Shijun Hu ,&nbsp;Xueyang Gong ,&nbsp;Yiliya Ahemaiti ,&nbsp;Diwen Li ,&nbsp;Shi Ouyang ,&nbsp;Yuyang Huang ,&nbsp;Yongyi Wang ,&nbsp;Yan Liang ,&nbsp;Yun Deng ,&nbsp;Lin Liu ,&nbsp;Tianli Zhao","doi":"10.1016/j.gene.2025.149351","DOIUrl":"10.1016/j.gene.2025.149351","url":null,"abstract":"<div><div>3C syndrome features craniofacial, nervous, and cardiovascular malformations. <em>WASHC5</em> gene mutations may underline this syndrome, but the pathogenicity and underlying mechanism remain undetermined. We analyzed the expression pattern of the <em>washc5</em> gene in zebrafish using whole-body in situ hybridization and generated a zebrafish model with washc5 gene knockout using CRISPR/Cas9 technology. Homozygous zebrafish exhibited high mortality, retarded growth, lighter stripes, and reduced pigmentation around the pupils. In the maxillofacial region, homozygotes displayed a shortened and tilted maxilla and delayed ossification of bones. In the heart, homozygous zebrafish showed a decreased heart rate, increased ventricular area, disorganized ventricular muscle fibers, mitochondrial swelling, Golgi lysis, and endoplasmic reticulum (ER) lysis in ventricular myocytes. The mRNA levels of <em>nppb</em> and <em>myh7</em> were significantly increased. In the nervous system, homozygotes displayed bradykinesia and impaired neuronal development. qRT-PCR analysis revealed downregulation of <em>col1a2</em>, <em>col1a1a</em>, <em>col1a1b</em>, <em>sp7</em>, and <em>msx2b</em> (osteogenic factors and regulators of maxillofacial skeletal development) and abnormal expression of <em>alpk2</em>, <em>alpk3b</em>, <em>actc2</em> (cardiac development factors), as well as <em>tsen54</em>, <em>exosc8</em>, and <em>exosc9</em> (cerebellar development factors). Enrichment analysis of differentially expressed genes and proteins indicated involvement in ER-related processes. The <em>washc5</em> knockout zebrafish model exhibits phenotypic similarities to human 3C syndrome, suggesting that mutations of this gene may play a pathogenic role in the syndrome. The mechanism of the <em>washc5</em> gene in 3C syndrome may be associated with disturbances in ER homeostasis, providing insights into potential gene therapy strategies.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149351"},"PeriodicalIF":2.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482741","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}

{"title":"AhFAD3-A01 enhances α-linolenic acid content in Arabidopsis and peanut","authors":"Li Xiaona ,&nbsp;Xue Lulu ,&nbsp;Liu Han ,&nbsp;Qu Pengyu ,&nbsp;Zhao Huanhuan ,&nbsp;Luo Dandan ,&nbsp;Wang Xiaobo ,&nbsp;Huang Bingyan ,&nbsp;Zhang Maoning ,&nbsp;Li Chenyu ,&nbsp;Zhang Zhongxin ,&nbsp;Dong Wenzhao ,&nbsp;Shi Lei ,&nbsp;Zhang Xinyou","doi":"10.1016/j.gene.2025.149336","DOIUrl":"10.1016/j.gene.2025.149336","url":null,"abstract":"<div><div>Alpha-linolenic acid (ALA, C18:3) is an essential fatty acid integral to human growth and development. Despite its significance, the ALA content in peanut seeds-a major global oilseed crop-is notably low. This study employed bioinformatics analysis, tissue expression, and promoter function evaluations to investigate <em>AhFAD3</em>, which encodes the microsomal omega-3 fatty acid desaturase that is directly responsible for ALA accumulation through converting linoleic acid (LA) to ALA. We identified the active <em>AhFAD3</em> gene, <em>AhFAD3-A01</em>, with the functional protein encoded by <em>AhFAD3-A01</em> localized in the endoplasmic reticulum (ER) and found to be pivotal in ALA synthesis in seeds. The low expression of <em>AhFAD3</em> genes during the late stages of seed development, coupled with the specific activation by only <em>AhFAD3-A01</em> and <em>AhFAD3-B01</em> promoters in seeds, results in the low ALA levels in mature peanut seeds. To enhance ALA content, the constitutive promoter CaMV35S and the seed-specific promoter P<em>_AhWRI1</em> were utilized to overexpress <em>AhFAD3-A01</em> in Arabidopsis and peanut. While the expression level of <em>AhFAD3-A01</em> in P<em>_AhWRI1</em>::<em>AhFAD3-A01</em> transgenic Arabidopsis remained unchanged, it significantly increased under the CaMV35S::<em>AhFAD3-A01</em> configuration, leading to an over a 40 % increase in ALA content of in T₄ generation seeds, indicating that P<em>_AhWRI1</em> was unable to drive <em>AhFAD3</em> overexpression in Arabidopsis. Similarly, the overexpression of <em>AhFAD3-A01</em> using both promoters in peanuts resulted in enhanced expression and an increase in ALA content from 15.18 % to 30.65 % in CaMV35S::<em>AhFAD3-A01</em> T₁ generation seeds and from 11.23 % to 25.49 % in P<em>_AhWRI1</em>::<em>AhFAD3-A01</em> seeds. These results highlight the critical role of <em>AhFAD3-A01</em> ALA synthesis in peanut seeds and provide a solid foundation for developing peanut varieties with elevated ALA content.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"949 ","pages":"Article 149336"},"PeriodicalIF":2.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476429","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}

{"title":"Association of Zinc Finger-76 rs10947540 polymorphism and its gene expression in Egyptian patients with systemic lupus erythematosus","authors":"Ismail M. Ahmed ,&nbsp;Hanan Elimam ,&nbsp;Maha Emad Ibrahim ,&nbsp;Sarah Shabayek ,&nbsp;Dina M. Abo-Elmatty ,&nbsp;Noha M. Mesbah ,&nbsp;Asmaa R. Abdel-Hamed","doi":"10.1016/j.gene.2025.149343","DOIUrl":"10.1016/j.gene.2025.149343","url":null,"abstract":"<div><div>Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by the involvement of multiple organs and dysregulation of the immune system. Zinc finger (ZNF) proteins act as DNA-binding transcription factors, thereby regulating gene expression. Polymorphisms, specifically single-nucleotide polymorphisms (SNPs), within ZNF-coding genes, have been implicated in susceptibility to autoimmune diseases, including the ZNF-76 gene in SLE. This investigation aimed to elucidate the association between ZNF-76 gene expression, protein levels, and rs10947540 SNP in a cohort of Egyptian SLE patients. One hundred healthy controls and one hundred SLE patients were recruited. Quantitative real-time PCR was employed to identify ZNF-76 (C/T) rs10947540 genotypes and quantify serum ZNF-76 mRNA expression. Additionally, serum ZNF-76 protein levels were measured using ELISA. Our results revealed downregulation of ZNF-76 mRNA expression in approximately 75% of SLE patients, with a significant decrease (0.23-fold) in median expression compared to controls. Furthermore, SLE patients exhibited a higher prevalence of high-risk TT genotype and demonstrably lower serum ZNF-76 protein levels. In conclusion, this study suggests a strong association between decreased serum ZNF-76 mRNA expression and increased susceptibility to SLE in the studied Egyptian population. Specific SNP in the ZNF-76 gene may be potential markers for inherited predisposition to SLE in this population.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"948 ","pages":"Article 149343"},"PeriodicalIF":2.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143465535","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}

{"title":"RNA research for drug discovery: Recent advances and critical insight","authors":"Patrick Maduabuchi Aja ,&nbsp;Peter Chinedu Agu ,&nbsp;Celestine Ogbu ,&nbsp;Esther Ugo Alum ,&nbsp;Ilemobayo Victor Fasogbon ,&nbsp;Angela Mumbua Musyoka ,&nbsp;Wisdom Ngwueche ,&nbsp;Chinedu Ogbonia Egwu ,&nbsp;Deusdedit Tusubira ,&nbsp;Kehinde Ross","doi":"10.1016/j.gene.2025.149342","DOIUrl":"10.1016/j.gene.2025.149342","url":null,"abstract":"<div><div>The field of RNA research has experienced significant changes and is now at the forefront of contemporary drug development. This narrative overview explores the scientific developments and historical turning points in RNA research, emphasising the field’s critical significance in the development of novel therapeutics. Important discoveries like antisense oligonucleotides (ASOs), mRNA therapies, and RNA interference (RNAi) have created novel treatment options that can be targeted, such as the ground-breaking mRNA vaccinations against COVID-19. Advances in high-throughput sequencing, single-cell RNA sequencing, and epitranscriptomics have further unravelled the complexity of RNA biology, shedding light on the intricacies of gene regulation and cellular diversity. The integration of computational tools and bioinformatics has propelled the identification of RNA-based biomarkers and the development of RNA therapeutics. Despite significant progress, challenges such as RNA stability, delivery, and off-target effects persist, necessitating continuous innovation and ethical considerations. This review provides a critical insight into the current state and prospects of RNA research, emphasising its transformative potential in drug discovery. By examining the interplay between technological advancements and therapeutic applications, we underscore the promising horizon for RNA-based interventions in treating a myriad of diseases, marking a new era in precision medicine.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"947 ","pages":"Article 149342"},"PeriodicalIF":2.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143463796","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}