Gene Reports最新文献

{"title":"Mechanisms underpinning cold tolerance in indica hybrid rice: Insights for northern adaptation","authors":"Di Zhang ,&nbsp;Xiaoping Ding ,&nbsp;Wenyu Li ,&nbsp;Lingling Li ,&nbsp;Gongye Cheng ,&nbsp;Jianghui Yu ,&nbsp;Zhijun Wang ,&nbsp;Houxiong Wu ,&nbsp;Cheng Zheng ,&nbsp;Ling Liu ,&nbsp;Lanxin Liu ,&nbsp;Meijuan Duan ,&nbsp;Dingyang Yuan ,&nbsp;Citao Liu","doi":"10.1016/j.genrep.2025.102201","DOIUrl":"10.1016/j.genrep.2025.102201","url":null,"abstract":"<div><div>Cold tolerance is essential for rice cultivation in northern regions, where low temperatures limit yield potential. This study explores the cold tolerance mechanisms in Liyouyuchi (LYYC), an <em>indica</em> hybrid rice developed by crossing Ruifeng S with R1053, LYYC demonstrated superior cold tolerance, outperforming local varieties with a 16.5 % yield increase in Harbin and a yield of 12.35 t/ha in Jilin in 2023. Under cold stress, LYYC exhibited a lower levels of reactive oxygen species (ROS) accumulation and significantly higher survival rate compared to its parental lines. Genetic analysis identifies several key loci associated with cold tolerance in LYYC, including beneficial allelic variants in <em>GSTZ2</em>, <em>COG1</em>, <em>qCTB7</em> and <em>Ctb1</em>. Notably, <em>GSTZ2</em> and <em>Ctb1</em> exhibited high parent heterosis, while <em>qCTB7</em> displayed extreme parent heterosis under cold stress, with expression levels significantly higher than both the paternal and maternal lines. The favorable allelic variations in these genes position LYYC as a promising resource for breeding cold-resistant rice varieties. These findings provide valuable insights into the genetic mechanisms of cold tolerance, contributing to the development of rice cultivars better adapted to northern climates and cold-induced stress.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102201"},"PeriodicalIF":1.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced expression of insulin like growth factor-2 mRNA binding protein 2 (IMP2) elevates TAZ via IMP3 in triple-negative breast cancer","authors":"Shubhashree Parimita,&nbsp;Amitava Das,&nbsp;Sanjoy Samanta","doi":"10.1016/j.genrep.2025.102209","DOIUrl":"10.1016/j.genrep.2025.102209","url":null,"abstract":"<div><div>Insulin like growth factor-2 mRNA binding proteins IMP2 and IMP3 are usually expressed in aggressive triple-negative breast cancer (TNBC). Although, IMP3 plays a pro-tumorigenic role in breast tumors, function of IMP2 is less clear. Therefore, the objective of this study is to understand the functions of IMP2 in breast cancer. Using published mRNA and proteomic databases, we show that expressions of IMP2 and IMP3 correlate well in breast tumors. One of the important mechanisms by which IMP3 contributes to TNBC progression is its ability to activate TAZ oncoprotein via LATS1 and WNT5B. Surprisingly, short hairpin RNA (shRNA) mediated depletion of IMP2 protein increased TAZ and WNT5B expression in TNBC cells. We also noticed a decrease in phospho-LATS1. This observation is surprising because both IMP2 and IMP3 proteins are structurally very similar and are expressed together in TNBC. Moreover, we discovered that IMP2 depletion increased IMP3 expression which in turn enhanced TAZ and WNT5B level. Although both IMP2 &amp; IMP3 interacts physically as evident from the co-immunoprecipitation experiment, the mechanism behind this reciprocal regulation is not clear at this point. Further, our analysis of a proteomic database identified proteins (notably SOX10, S100A9, SLC7A5 and ARG1) that are significantly elevated in TNBCs that express relatively higher IMP2 (IMP2^high) compared to IMP2^low tumors. Despite a strong positive correlation with IMP2, expressions of these genes are also increased in IMP2-depleted cells. Importantly, these genes are associated with poor patients survival. In conclusion, IMP2 seems to play a tumor suppressive role in TNBC cells.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102209"},"PeriodicalIF":1.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143716066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"miRNAs: Biosynthesis, mechanism of action, and applications in biological systems","authors":"Kun Liu,&nbsp;Weiwei Cai","doi":"10.1016/j.genrep.2025.102208","DOIUrl":"10.1016/j.genrep.2025.102208","url":null,"abstract":"<div><div>MicroRNAs (miRNAs) are a class of small, non-coding RNA molecules that are ubiquitously distributed across eukaryotic organisms. Through complementary base pairing with target mRNA, miRNAs have been demonstrated to regulate gene expression by inducing gene silencing. This comprehensive review provides an overview of the biosynthesis and pathways of miRNAs, their mechanisms of action in various organisms, and their diverse applications in animal diseases, agriculture, environmental toxicology, drug development, cellular repair, and nutritional sciences. The miRNA gene undergoes a sophisticated processing cascade, involving RNA polymerase, the microprocessor complex, transporter proteins, and Dicer, culminating in the production of mature miRNAs, which are then incorporated into AGO family proteins to form the RNA-induced silencing complex (RISC). This intricate machinery facilitates gene regulation by either cleaving target mRNA or inhibiting translation. miRNAs are integral to numerous biological processes, including intercellular communication, cell cycle control, immune responses, and host-microbe interactions. Furthermore, in recent years, the practical applications of miRNAs have rapidly expanded, encompassing disease diagnosis, therapeutic intervention, disease prognosis, enhancement of crop resilience to biotic and abiotic stress, environmental toxicology, drug development, cellular repair, and nutritional optimization. These research domains offer substantial promise for advancing our understanding of miRNA-mediated gene regulation and for developing innovative strategies to leverage their therapeutic and commercial potential.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102208"},"PeriodicalIF":1.0,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intergenerationzal genetic instability and anticipation in spinocerebellar ataxia type 3: The impact of parental gender","authors":"Mao-Lin Cui ,&nbsp;Hao-Ling Xu ,&nbsp;Gui-He Li ,&nbsp;Wei Lin ,&nbsp;Zhuo-Ying Huang ,&nbsp;Bei-Ning Ye ,&nbsp;Shi-Rui Gan ,&nbsp;Ning Wang ,&nbsp;Min-Ting Lin ,&nbsp;on behalf of the OSCCAR Investigators","doi":"10.1016/j.genrep.2025.102206","DOIUrl":"10.1016/j.genrep.2025.102206","url":null,"abstract":"<div><h3>Background</h3><div>Spinocerebellar ataxia type 3 (SCA3) is the most common form of autosomal dominant cerebellar ataxia. Intergenerational genetic instability is a common phenomenon in autosomal dominant genetic disorders, including SCA3, SCA2, and Huntington's disease (HD). Parental gender has been shown to influence genetic instability in offspring, though this remains a point of debate in SCA3.</div></div><div><h3>Methods</h3><div>We enrolled 160 participants from OSCCAR between 2014 and 2023. Genomic DNA was extracted from blood samples using Qiagen's QIAamp kit. The number of CAG repeats in the ATXN3 gene was determined using PCR and Sanger sequencing. We analyzed categorical variables with Chi-square tests, normally distributed variables with independent samples <em>t</em>-tests, and non-normally distributed variables with Mann-Whitney <em>U</em> tests. Multifactorial regression analysis was conducted to evaluate the impact of parental gender on offspring delta-expanded CAG repeats and genetic anticipation.</div></div><div><h3>Results</h3><div>In 160 parent-offspring transmissions, 129 cases displayed genetic instability, including 95 expansions and 34 contractions. Genetic instability was significantly higher in paternal transmissions (89.87 %) compared to maternal transmissions (71.6 %). The mean expCAG in offspring exceeded that of parents. Among 40 cases with documented anticipation, the mean was 12.95 ± 8.5 years, with paternal inheritance associated with an earlier onset (<em>t</em> = −4.11, <em>p</em> = 0.001). Parental gender significantly influenced both delta-expCAG (<em>p</em> = 0.012; β = 2.71) and offspring anticipation (<em>p</em> = 0.045; β = 5.67).</div></div><div><h3>Conclusion</h3><div>Intergenerational genetic instability is highly prevalent in SCA3. Parental gender plays a significant role in determining offspring delta-expCAG and genetic anticipation, with paternal transmission showing greater instability and earlier onset.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102206"},"PeriodicalIF":1.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of GLP1R gene polymorphism in diabetic nephropathy in patients with type 2 diabetes","authors":"Azza A. Gomaa ,&nbsp;Amany M. Zeid ,&nbsp;Ibrahim M. Nagy","doi":"10.1016/j.genrep.2025.102205","DOIUrl":"10.1016/j.genrep.2025.102205","url":null,"abstract":"<div><h3>Background</h3><div>Diabetic nephropathy (DN) is a prevalent microangiopathic problem of T2DM and is a key cause of kidney damage, which affects a large portion of patients with type 2 diabetes mellitus (T2DM). Genetic predisposition plays a crucial role in the development of DN.</div></div><div><h3>Aim</h3><div>We investigated the effect of glucagon-like peptide 1 receptor (GLP1R) genetic polymorphisms on the susceptibility to DN in patients with T2DM.</div></div><div><h3>Methods</h3><div>A total of 294 T2DM patients with DN were enrolled: non-DN Group I and DN Group II. Two tagging single nucleotide polymorphisms (tSNPs) of the GLP1R gene were selected. SNPs were genotyped via polymerase chain reaction, and the results were correlated with DN.</div></div><div><h3>Results</h3><div>Patients with T2DM with The GA and AA genotypes of rs3765467 were linked to higher DN risk, with odds ratios (ORs) of 1.975 (<em>p</em> = 0.017) and 4.175 (<em>p</em> = 0.034), respectively, while the CT genotype of rs10305420 showed an OR of 1.719 (<em>p</em> = 0.031). Both SNPs were correlated with altered lipid profiles, renal function markers, and elevated albumin/creatinine ratio (UACR) (<em>p</em> &lt; 0.05). The A-T haplotype was significantly related to a greater risk of DN in T2DM patients.</div></div><div><h3>Conclusions</h3><div>These results recommend that GLP1R genetic polymorphisms play a crucial role in the pathogenesis of DN, and the identified variants may serve as valuable genetic biomarkers for predicting DN risk in T2DM patients.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102205"},"PeriodicalIF":1.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular characterization of Entamoeba complex species in clinical samples from Eastern of Iran in 2024","authors":"Mahmoodreza Behravan ,&nbsp;Fetameh Alipour ,&nbsp;Mostafa Ashrafi ,&nbsp;Narges Ekrahi ,&nbsp;Abdol Sattar Pagheh ,&nbsp;Amir Tavakoli Kareshk","doi":"10.1016/j.genrep.2025.102203","DOIUrl":"10.1016/j.genrep.2025.102203","url":null,"abstract":"<div><div>Amoebiasis, an infection caused by the protozoan parasite <em>Entamoeba histolytica</em>, is a highly significant disease that can lead to numerous complications and mortality in humans. While <em>E. histolytica</em>, <em>Entamoeba dispar</em>, and <em>Entamoeba moshkovskii</em> share morphological similarities, they differ significantly in their pathogenicity. Recognizing the significance of determining the prevalence of different <em>Entamoeba</em> species, this study aimed to molecularly identify the various species in patients referred to the <em>Imam</em> Reza Hospital laboratory in Birjand during the years 2023–2024.In this cross-sectional study, a total of 350 stool samples from patients referred to the <em>Imam</em> Reza Hospital laboratory in Birjand were collected through non-random convenience sampling during the years 2023–2024. The samples were examined using both microscopic and molecular methods. The data obtained from the study were analyzed using SPSS (Statistical Package for the Social Sciences) software version 27.00.Microscopic examination revealed that out of the 350 samples, the prevalence of the <em>Entamoeba</em> complex was 35 (10 %), <em>Blastocystis</em> was 13 (7.3 %), and <em>Giardia lamblia</em> was 5 (1.42 %). Nested-PCR (Polymerase Chain Reaction) results showed that out of the 35 positive <em>Entamoeba</em> complex samples, 20 samples (57.1 %) were <em>Entamoeba coli</em> (highest frequency), 11 samples (31.5 %) were <em>E. dispar</em>, 2 samples (5.7 %) were <em>E. histolytica</em>, and 2 samples (5.7 %) were <em>E. moshkovskii</em>. In this study, significant relationship was observed between the relative frequency of <em>Entamoeba</em> complex with education level, location and occupation (<em>P</em>_value &lt; 0.05), but no significant relationship was observed between the frequency of <em>Entamoeba</em> complex with age, gender, type of stool and symptom (<em>P</em>_value &gt; 0.05). The findings of this study reveal the prevalence of the <em>Entamoeba</em> complex among patients referred to the <em>Imam</em> Reza Hospital laboratory in Birjand, highlighting the need for increased focus on disease epidemiology. These findings emphasize the need for additional research to gain a deeper understanding of the factors that affect the prevalence and distribution of the <em>Entamoeba</em> complex.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102203"},"PeriodicalIF":1.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Notch1 is essential for maintaining adult SVZ neurogenic niche and its knockout leads to aberrant neurogenesis and fine olfactory dysfunction","authors":"Vadakkath Meera ,&nbsp;Suresh Surya ,&nbsp;Surendran Parvathy ,&nbsp;Nair Pradeep Jyothi ,&nbsp;Paul Ann Riya ,&nbsp;Biju Surendran Nair ,&nbsp;Jackson James","doi":"10.1016/j.genrep.2025.102200","DOIUrl":"10.1016/j.genrep.2025.102200","url":null,"abstract":"<div><div>The notch signaling pathway and its effector molecules are crucial for maintaining neural stem cells (NSCs) in the adult brain's sub-ventricular zone (SVZ). However, studies are lacking in exploring the functional consequences of knocking out Notch1 from the NSCs in the SVZ. Here we show that the number of actively dividing NSCs increases in the SVZ of the Notch1 conditional knockouts, which subsequently generates newborn neurons in the olfactory bulb. In addition the Notch1 conditional knockout has deficits in discrimination of two nonsocial odorants (geraniol and eugenol), but other olfactory functioning remains unaffected. Altogether, our study demonstrates the role of Notch1 in maintaining NSCs in the SVZ and the effect of subsequent altered neurogenesis on olfactory functions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102200"},"PeriodicalIF":1.0,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic comparison of high-throughput single-cell RNA-seq","authors":"Yulong Zhong ,&nbsp;Linyan Wang ,&nbsp;Xianhong Yu","doi":"10.1016/j.genrep.2025.102189","DOIUrl":"10.1016/j.genrep.2025.102189","url":null,"abstract":"<div><div>Single-cell sequencing enables to reveal cellular heterogeneity and discover new cellular subpopulations. In terms of the strategy of single-cell sequencing, the main methods are based with combinatorial index, microwell and microfluidic. Due to the simplicity, methods based droplets are widely used for single-cell sequencing for multi-omics. Therefore, in order to facilitate researchers to choose a suitable platform to meet their application scenarios, we compared several commercial platforms: the Chromium X platform of 10× Genomics, the MobiNova-100 platform of MobiDrop, the SeekOne platform of SeekGene, and the C4 platform of BGI. Based the comprehensive assessment of the data analysis, the Chromium X platform shows an excellent performance, closely followed by MobiNova-100 platform.</div></div><div><h3>One-sentence summary</h3><div>As droplet-based single-cell sequencing platforms, Chromium X and MobiNova-100 have comparable data performance.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102189"},"PeriodicalIF":1.0,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic and expression analyses of glutathione S-transferase gene family in fig (Ficus carica L.) reveals candidate peel pigmentation genes","authors":"Jing Li,&nbsp;Qi Zhou,&nbsp;Bei Lu,&nbsp;Shiping Wei,&nbsp;Qing Zhao,&nbsp;Yuanhua Wang,&nbsp;Zhenqiang Xie","doi":"10.1016/j.genrep.2025.102195","DOIUrl":"10.1016/j.genrep.2025.102195","url":null,"abstract":"<div><div>Glutathione <em>S</em>-transferases (GSTs) are multifunctional proteins that are essential in stress resistance, phytohormone response, and secondary metabolism. Here, we identified 42 GSTs in fig (<em>Ficus carica</em> L.) and used genomic information to rename them based on their chromosomal locations. Simultaneously, a constructed phylogenetic tree divided FcGSTs into five subfamilies, with Tau serving as the major subgroup. The distributions of conversed motifs and gene structures exhibited similar features in the same subfamilies. In total, six duplication events were identified in fig <em>GST</em>s, and tandem duplication events fulfilled critical roles in the amplification of the Tau subfamily. Additionally, a synteny analysis showed that fig had similar evolutionary distances from <em>Ficus hispida</em> and <em>Ficus macrocarpa</em>. The <em>cis</em>-acting elements in promoter regions of <em>FcGST</em> genes were mainly related to light, hormone, stress, and plant growth and development. Furthermore, RNA-seq data revealed that quite a few <em>FcGST</em>s had low expression levels during the developmental stages of ‘Purple peel’ fig. However, <em>FcGSTF1</em> and <em>FcGSTU5</em>/<em>6</em>/<em>7</em> are closely related to <em>Transparent Testa 19</em> in <em>Arabidopsis thaliana</em> and GSTc in tea plants, respectively, which act as anthocyanin transporters. Their expression levels in color development of fig peels were correlated with anthocyanin biosynthesis. The findings provide a comprehensive understanding of the <em>GST</em> gene family and lay a foundation for future studies of anthocyanin transport in fig.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102195"},"PeriodicalIF":1.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic insight into the high-risk hypervirulent multidrug resistant enteroaggregative-hemorrhagic Escherichia coli ST648/*a194 (serotype O8:H4) isolated from a 3-year-old patient with bloodstream infection in Uganda, sub-Saharan Africa","authors":"Reuben S. Maghembe ,&nbsp;Maximilian A.K. Magulye ,&nbsp;Abdalah Makaranga ,&nbsp;Samweli Bahati ,&nbsp;Deogratius Mark ,&nbsp;Simon Sekyanzi ,&nbsp;AbdulGaniy B. Agbaje ,&nbsp;Emmanuel Eilu ,&nbsp;Savannah Mwesigwa ,&nbsp;Eric Katagirya","doi":"10.1016/j.genrep.2025.102198","DOIUrl":"10.1016/j.genrep.2025.102198","url":null,"abstract":"<div><div>Gastrointestinal and bloodstream infections account for a major cause of medical emergency and mortality among pediatric populations. Although <em>Escherichia coli</em> is implicated in multiple infections, its virulence and antimicrobial resistance are elusive. Here we aimed to uncover the pathogen associated with diarrhea and sepsis from a 3-year-old patient under ICU in Kampala. We isolated an <em>E. coli</em> strain, challenged it with a panel of 16 antibiotics and whole-genome sequenced it to delve into the virulome and resistome underlying the pathogenicity and relevance to the patient's disease. Antibiotic susceptibility test (AST) results revealed that the isolate was resistant to 12 antibiotics. Combining PathogenFinder with multilocus sequence typing (MLST), we found a high-risk human pathogen (<em>p</em> = 99.9 %), ST648/*a194 (serotype O8:H4), which possesses autotransporters <em>ehaB</em> and enteroaggregative immunoglobulin repeat protein <em>eaeX</em>, among other virulence factors<em>.</em> This strain has acquired plasmids harboring multidrug resistance genes of the beta lactamase family (<em>blaTEM-1B</em>, <em>blaCTX-M-15</em>, and <em>blaOXA-1</em>), aminoglycoside resistance genes including <em>aadA5</em>, <em>aac(3)-IIa</em> and <em>aac(6′)-Ib-cr</em>, and fluroquinolone resistance gene <em>aac(6′)-Ib-cr</em>. Using the comprehensive antibiotic resistance database (CARD), we identified multiple nonsynonymous mutations for the genes <em>gyrA</em> (D87N), S83L, <em>ParC</em> (S80I), conferring fluroquinolone resistance along with the multidrug resistance gene <em>AcrAB-TolC</em> with <em>MarR</em> mutations (Y137H, G103S). Overall, we infer a hybrid pathotype of enteroaggregative-hemorrhagic <em>E. coli</em> (EAHEC) with the potential for gastrointestinal tract, systemic infection and multidrug resistance covering third-generation cephalosporins. Comprehensive genomic surveillance is urgently required to enhance our therapeutic intervention of these high-risk <em>E. coli</em> clones in low-resource settings.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102198"},"PeriodicalIF":1.0,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143628210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}