Biochemical Genetics最新文献

{"title":"Assembly and Characterization of the First Complete Mitochondrial Genome of Tussilago farfara L.: Insights into Biological Functions and Phylogenetic Relationships within the Asteraceae Family.","authors":"Yilei Zhang, Yonggang Yan, Gang Zhang, Ying Chen, Yimin Li, Jing Gao, Bingyue Yang, Liang Peng","doi":"10.1007/s10528-026-11341-1","DOIUrl":"10.1007/s10528-026-11341-1","url":null,"abstract":"<p><p>Tussilago farfara L., a member of the Asteraceae family, is an economically valuable species due to its edible and medicinal properties. To elucidate the structural characteristics, genetic mechanisms, and evolutionary pathways of the organelle genomes of T. farfara, we sequenced, assembled, and annotated its mitochondrial genome for the first time. The complete mitochondrial genome of T. farfara spans 306,024 bp and contains 33 mitochondrial protein-coding genes (PCGs), 3 rRNAs, and 22 tRNAs. Analysis of the nucleotide substitution rate and genetic diversity revealed that most mitochondrial genome genes may have undergone purifying selection, indicating a slow evolutionary rate and a relatively conserved genomic structure. We further identified 13 fragments of chloroplast-derived DNA integrated into the mitochondrial genome, evidencing intracellular gene transfer. Collinearity analysis showed that Arctium lappa shares the most extensive mitochondrial homologous sequences and the highest sequence similarity with T. farfara. Phylogenetic analysis based on the mitochondrial genome helped to clarify the evolutionary and taxonomic position of T. farfara within the Asteraceae family. The mitochondrial genome sequence of T. farfara provides a valuable genomic resource for species identification and for evolutionary studies within the Asteraceae family.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6390-6419"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147289138","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Combined Approach: Karyotyping and QF-PCR for Comprehensive Genetic Screening in Male Infertility.","authors":"Pooja Dubey, Sameer Trivedi, Nitish Kumar Singh, Abhay Kumar Yadav, Ashish, Nargis Khanam, Janhavi Yadav, Surbhi Singh, Shraddha Chaurasiya, Royana Singh","doi":"10.1007/s10528-026-11367-5","DOIUrl":"10.1007/s10528-026-11367-5","url":null,"abstract":"<p><p>Male infertility is a significant reproductive health concern, with genetic abnormalities such as chromosomal aberrations and Y-chromosome microdeletions contributing substantially to severe spermatogenic failure. This cross-sectional study evaluated the prevalence and spectrum of chromosomal abnormalities and Y-chromosome microdeletions in infertile males from Eastern Uttar Pradesh using conventional karyotyping and quantitative fluorescence polymerase chain reaction (QF-PCR). A total of 134 infertile males were enrolled. Semen analysis was performed according to the World Health Organization (WHO) 6th edition guidelines. Peripheral blood samples were subjected to karyotyping, followed by Y-chromosome microdeletion analysis using QF-PCR in individuals with normal karyotypes. Chromosomal abnormalities were identified in 23.1% of cases, with mosaic karyotypes accounting for approximately 18% of the total cohort. Mosaic Klinefelter syndrome (46,XY/47,XXY) was the predominant abnormality, observed in 14.2% of cases. Among men with normal karyotypes (n = 103), Y-chromosome microdeletions were detected in 29% using the AZF v2 kit, mainly involving the AZFb and AZFc regions. Extended STS marker analysis further identified additional deletions in 31% of initially negative cases, including partial AZFc and AZFa-associated deletions, thereby significantly improving the overall diagnostic yield. These findings highlight the importance of a combined cytogenetic and molecular approach for the genetic evaluation of male infertility. While karyotyping remains essential for detecting large chromosomal abnormalities, extended STS-based molecular screening enhances diagnostic yield, particularly in resource-limited clinical settings.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6807-6824"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Biochemical and Genetic Effects of Lavandula angustifolia and Medical Ozone Treatments on Acute Liver Toxicity.","authors":"İrem Zehra Taş, Damla Kolcuoğlu, Menekşe Tükenmez, Necdet Altiner, Erisa Acar, Ertuğrul Çolak, İsmail Sari, Çağrı Öner","doi":"10.1007/s10528-026-11351-z","DOIUrl":"10.1007/s10528-026-11351-z","url":null,"abstract":"<p><p>This study aimed to investigate the effects of Lavandula angustifolia oil and medical ozone on the gene expressions of CYP1A1, CYP1A2, CYP2B1, and CYP3A1, as well as on the levels of Malondialdehyde (MDA), and the activities of Superoxide Dismutase (SOD) and Catalase (CAT) enzymes on acute liver toxicity. Experimental groups were established by separating 10-week-old 28 Wistar male rats, each weighing between 350 and 450 g, into four groups of seven rats each. Gene expression levels were determined using RT-qPCR. MDA measured in the tissue samples by the thiobarbituric acid method. SOD and CAT enzyme activities measured spectrophotometrically. CYP1A1 fold regulation significantly decreased in the Lavandula (p = 0.012), and medical ozone (p = 0.044) groups compared to the control group. However, changes in the combination group were not statistically significant compared to the control group (p = 0.133). There were no significant differences in the fold regulations of CYP1A2, CYP2B1, and CYP3A1 among any groups (p > 0.05). MDA levels were significantly lower in the Lavandula, and medical ozone groups compared to the control group (p = 0.001). CAT enzyme activity did not show significant differences in the Lavandula (p = 0.096) and medical ozone groups (p = 0.103) but decreased significantly in the combination group (p = 0.031). SOD enzyme activity did not show significant differences among the groups (p = 0.112). Lavandula and medical ozone treatments significantly reduced CYP1A1 gene expression and MDA levels, which may indicate their potential in reducing oxidative stress. These findings highlight the complexity of combined therapies and suggest possible interactions or suppressive effects between the agents, which have not been previously reported.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6593-6606"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147484167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Genetic Diversity and Population Structure on Azadirachta indica A. Juss. in an Urban Metropolitan: Ahmedabad, India.","authors":"Jay J Kavithiya, Kush V Prajapati, Pooja G Trivedi, Gaurang M Sindhav","doi":"10.1007/s10528-026-11373-7","DOIUrl":"10.1007/s10528-026-11373-7","url":null,"abstract":"<p><p>Azadirachta indica (A. indica) A. Juss., commonly known as Neem, is a valuable multipurpose tree with profound medicinal properties and socioeconomic importance, widely recognized since ancient Ayurvedic times. Despite its prominence, knowledge about its genetic diversity within the metropolitan area of Ahmedabad is limited. This study marks the first in-depth exploration of the genetic diversity and population structure of A. indica in Ahmedabad. The authenticity of the species was validated through DNA barcoding, and a Geographical Information System (GIS) was used to collect the samples. A total of 35 A. indica accessions were analyzed using five Inter Simple Sequence Repeat (ISSR) primers. Genetic diversity and population structure were evaluated using Inter Simple Sequence Repeat (ISSR) markers through polymorphism assessment, clustering, ordination, and Bayesian population structure analyses. ISSRs revealed a high level of polymorphism (75.66%), indicating substantial genetic variability among accessions. An analysis of genetic diversity indices revealed low to moderate diversity (Hs = 0.14, Ht = 0.217, I = 0.217). Analysis of Molecular Variance (AMOVA) analysis depicted 81% variation within the population and 19% among the population. Low to moderate genetic differentiation (Gst = 0.319) and moderate gene flow (Nm = 1.06) indicated that urban development has not hindered gene flow among populations. Mantel's test revealed a weak but significant correlation between genetic and geographic distances, suggesting limited isolation by distance. The estimated ΔK using STRUCTURE exhibited two subpopulations, representing two gene pools for A. indica accessions (K = 2). Collectively, these patterns indicate that urbanization has not severely disrupted genetic connectivity in A. indica, reflecting its resilience and adaptive potential in a metropolitan environment. These findings provide pivotal knowledge for further understanding the genetic diversity and population structure of A. indica in one of the fastest-growing cities in India, which can be utilized for new breeding programmes, sustainable development and future conservation strategies around the globe.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6992-7015"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147626524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Ticagrelor and Glucose Homeostasis Regulation: Insights from Genetic and Transcriptomic Analyses.","authors":"Zhipeng Xie, Heshuo Ma, Yingjian Liu, Weihua Lai","doi":"10.1007/s10528-026-11398-y","DOIUrl":"10.1007/s10528-026-11398-y","url":null,"abstract":"<p><p>Emerging evidence has demonstrated the additional therapeutic benefits of ticagrelor in acute coronary syndrome (ACS) patients with diabetes. However, the underlying mechanisms of this association remain elusive. Mendelian randomization (MR) analysis using genome-wide association study (GWAS) data on ticagrelor, plasma proteomics and type 2 diabetes was employed to identify causal mediator proteins. RNA sequencing (RNA-seq) of ticagrelor-treated HepG2 cells revealed the molecular pathways regulating glucose metabolism. Genetically proxied ticagrelor was significantly associated with a reduced risk of diabetes (OR = 0.859, 95% CI: 0.783-0.934, P = 7.98E-05), and 24.41% of this effect was mediated by upregulation of BDH2 protein. In vitro experiments confirmed the enhanced effect of ticagrelor on glucose consumption. Transcriptome analysis revealed that mitochondrial respiratory chain transfer and oxidative phosphorylation (OXPHOS) were significantly enriched, and genes related to ATP biosynthesis were significantly upregulated. These findings highlight the non-platelet function of ticagrelor in maintaining glucose homeostasis, providing insights into potential drug repurposing in the future.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"7356-7372"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147969448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Evaluation of Floral Traits, Color Coordinates, and Bioactive Potential in Crossandra (Crossandra infundibuliformis L.) Genotypes.","authors":"D Mahesh Reddy, S A Safeena, M Arivalagan, P T Srinivas, P Naveen Kumar, N Chandrashekar, Priti Sonavane, G C Monika","doi":"10.1007/s10528-026-11352-y","DOIUrl":"10.1007/s10528-026-11352-y","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6572-6592"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147466353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling the Link Between Expression of Aspartate Kinase2 (ask2) Gene and Accumulation of Methionine in Developing Maize Kernels.","authors":"Hriipulou Duo, Rashmi Chhabra, Rajkumar U Zunjare, Gaurav Sharma, Subhra J Mishra, Vignesh Muthusamy, Firoz Hossain","doi":"10.1007/s10528-026-11346-w","DOIUrl":"10.1007/s10528-026-11346-w","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6491-6507"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147388997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tannic Acid Inhibits Lung Adenocarcinoma Progression by Suppressing MMP-2-Mediated Epithelial-Mesenchymal Transition.","authors":"Min Lin, Yu Zhou, Yizhi Wang, Huachun Yan, Xuejun Qin, Xiao Zhong, Guozhong Yang, Qi Liu","doi":"10.1007/s10528-026-11356-8","DOIUrl":"10.1007/s10528-026-11356-8","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6710-6727"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147508532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Silencing of HAVCR2 Attenuates Skeletal Muscle Ischemia-Reperfusion Injury by Inhibiting Oxidative Stress.","authors":"Huan Wang, Pang Li, Xifeng Xiong, Yijing Gao","doi":"10.1007/s10528-026-11339-9","DOIUrl":"10.1007/s10528-026-11339-9","url":null,"abstract":"<p><p>Skeletal muscle ischemia-reperfusion (IR) injury is a common clinical condition associated with oxidative stress and inflammation that leads to muscle damage and multi-organ failure. However, the molecular mechanisms underlying its pathogenesis remain incompletely understood. R software and the limma package were used to analyze mRNA expression profiles from the GSE275811 dataset. Hub genes were identified using the protein-protein interaction (PPI) network, support vector machine-recursive feature elimination (SVM-RFE), and least absolute shrinkage and selection operator (LASSO) regression analysis, and their diagnostic performances were assessed using receiver operating characteristic (ROC) curves. The roles of hepatitis A virus cellular receptor 2 (HAVCR2) were explored in IR-induced Sprague-Dawley rat models and in vitro hypoxia-reoxygenation (HR)-treated human umbilical vein endothelial cells (HUVECs). A total of 188 differentially expressed genes (DEGs) were screened, primarily enriched in pathways associated with immune responses and inflammation regulation. CX3CR1, HAVCR2, IL1B, LYZ2, and PTPRC were identified as key genes with potential to distinguish between normal and IR samples. HAVCR2 silencing alleviated rat muscle fiber disruption, inflammatory infiltration, and oxidative stress, with reduced levels of ROS, MDA, IL-6, and TNF-α and elevated levels of GSH, SOD, MnSOD, and CAT. Similarly, HAVCR2 knockdown conferred protective effects in HUVECs subjected to HR injury, improving cell viability, enhancing migratory ability, and restoring antioxidant defenses. HAVCR2 knockdown inhibited oxidative stress in the skeletal muscle IR, suggesting that targeting HAVCR2 represents a promising therapeutic strategy for skeletal muscle IR injury.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6448-6467"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147353201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of Fatty Acid Metabolism-Associated Molecular CPOX and the Underlying Mechanism in Follicular Lymphoma.","authors":"Jinxia He, Fengming Wang, Chuyun Shen, Kaifeng Zhang","doi":"10.1007/s10528-026-11337-x","DOIUrl":"10.1007/s10528-026-11337-x","url":null,"abstract":"<p><p>Dysregulated lipid metabolism is a key driver of follicular lymphoma (FL). This study aimed to explore the lipid metabolism-related genes (LMRGs) and clarify the underlying roles and mechanisms in FL. Bioinformatics methods, including differential analysis, WGCNA, machine learning, and Mendelian randomization, were utilized to select the LMRGs in FL. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses were conducted to investigate the function of the key LMRG. Receiver operator characteristic (ROC) was used to evaluate the diagnostic value of the key gene CPOX. A pan-cancer analysis investigated CPOX's expression level and immune correlations. In vitro experiments using FL cell lines (WSU-FSCCL, DOHH2) validated CPOX expression, and CPOX knockdown in DOHH2 cells was used to assess its impact on viability, migration, invasion, and fatty acid metabolism. CPOX was confirmed to be a risk factor, significantly overexpressed in FL, and exhibited effective diagnostic ability in FL (AUC = 0.731). Functional analysis linked CPOX to mitochondrial function, oxidative phosphorylation, and heme metabolic process. Pan-cancer indicated the dysregulated CPOX across multiple cancers and closely correlation with immune characteristics. Experimentally, CPOX was higher in the more invasive DOHH2 cells; and CPOX knockdown suppressed FL progression and reduced lipid droplet formation, triglyceride, total cholesterol, and free fatty acid levels. In conclusion, this study fills the gap in understanding the significance of lipid metabolism-related molecules in FL, and innovatively proposes that CPOX is a risk factor for FL. Knockdown of CPOX inhibits the FL progression, which is regulated by fatty acid metabolism.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"6508-6528"},"PeriodicalIF":1.9,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147430170","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}