Biochemical Genetics最新文献_第3页

Pediococcus acidilactici WSP-AZM23: Genomic Insights, In Vitro Probiotic Potential, and Computational Analysis for Biotherapeutic Applications. 酸碱性球球菌WSP-AZM23：基因组分析、体外益生菌潜力和生物治疗应用的计算分析。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11361-x

Rizna Akmaliyah, Apon Zaenal Mustopa, Sri Budiarti, Nisa Rachmania Mubarik, Jendri Mamangkey, Wendry Setiyadi Putranto, Rahadian Pratama, Yustinus Maladan

引用次数: 0

A Combined Approach: Karyotyping and QF-PCR for Comprehensive Genetic Screening in Male Infertility. 核型与QF-PCR相结合的男性不育症综合遗传筛查方法。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11367-5

Pooja Dubey, Sameer Trivedi, Nitish Kumar Singh, Abhay Kumar Yadav, Ashish, Nargis Khanam, Janhavi Yadav, Surbhi Singh, Shraddha Chaurasiya, Royana Singh

{"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":"https://doi.org/10.1007/s10528-026-11367-5","url":null,"abstract":"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.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-04-03","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}

引用次数: 0

2,6-Diaminopurine Induces ACTN3 Premature Termination Codon Readthrough. 2,6-二氨基嘌呤诱导ACTN3过早终止密码子读取

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11371-9

Nagakatsu Harada

{"title":"2,6-Diaminopurine Induces ACTN3 Premature Termination Codon Readthrough.","authors":"Nagakatsu Harada","doi":"10.1007/s10528-026-11371-9","DOIUrl":"https://doi.org/10.1007/s10528-026-11371-9","url":null,"abstract":"The ACTN3 gene encodes a sarcomeric α-actinin-3 protein, which forms an anti-parallel dimer and constitutes the Z-lines in human skeletal muscle fast-twitch fibers. In human ACTN3, a nonsense mutation that replaces a CGA codon for the 577th arginine (R) residue with a TGA premature termination codon (PTC; specified as X) produces the R577X polymorphism. Since ACTN3 577X mRNA is targeted and degraded by a cellular nonsense-mediated mRNA decay (NMD) system, individuals with the homozygous ACTN3 577XX genotype do not express α-actinin-3 protein in the muscles, resulting in a decrease in speed-oriented athletic performance and muscle mass. The PTC has been a target for translational readthrough using aminoglycoside antibiotics, which enable the full-length α-actinin-3 protein to be produced from the ACTN3 577X gene. However, this effect requires a supraphysiological dose (mM levels) and supportive NMD inhibition. Using expression plasmids and HEK293 cultured cells, in this paper I show that 2,6-diaminopurine (DAP), a recently identified natural compound with translational readthrough activity, can produce a full-length α-actinin-3 protein from the ACTN3 577X gene even when used alone and at a relatively low concentration (µM levels). Most ACTN3 577X alleles likely contain three missense mutations (Q523R, R628C, and R776Q). Full-length α-actinin-3 proteins derived from the ACTN3 577X gene formed more homodimers than α-actinin-3 proteins derived from the ACTN3 577R gene. These results indicate that DAP-induced translational readthrough has the potential to restore function to the lost gene ACTN3 577X in humans.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607739","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}

引用次数: 0

Mapping the Molecular Evolution and Role of Wild Rice GLYIII Protein-Encoding Genes in Abiotic Stress Response. 野生水稻GLYIII蛋白编码基因的分子进化及其在非生物胁迫响应中的作用

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11357-7

Bidisha Bhowal, Yasha Hasija, Sneh L Singla-Pareek

{"title":"Mapping the Molecular Evolution and Role of Wild Rice GLYIII Protein-Encoding Genes in Abiotic Stress Response.","authors":"Bidisha Bhowal, Yasha Hasija, Sneh L Singla-Pareek","doi":"10.1007/s10528-026-11357-7","DOIUrl":"https://doi.org/10.1007/s10528-026-11357-7","url":null,"abstract":"To address the need for sustainable food production amid rapid global climate change, developing rice varieties that grow optimally even under harsh conditions is essential. An effective approach in this direction would be to harness the stress resilience traits of the crop wild relatives (CWRs) of rice. Among the various crucial stress-responsive genes, the Glyoxalase III (GLYIII) gene family is of utmost importance for its ability to detoxify the toxic glycolytic byproduct, methylglyoxal (MG), in a less energy-intensive, single-step process, as well as for its multifaceted cytoprotective role. In our study, a comprehensive genome-wide search across the Oryza genus revealed that GLYIII genes are conserved across wild rice genotypes. Their number has expanded during domestication, driven by gene duplications. Interestingly, only a few orthologous pairs showed positive selection, suggesting that the functions of most others need to be constrained and or conserved.We found that higher GLYIII activity, Total Antioxidant Capacity, endogenous glutathione (GSH) levels, and free radical scavenging activity contributes to the stress resilience of wild rices O. punctata, O. meridionalis, and O. nivara, in addition to other factors. , , . , . Our qRT-PCR analysis revealed differential expression of the OpGLYIII, OmGLYIII, and OnGLYIII genes across different developmental stages and in response to various abiotic stresses. Furthermore, we report that wild rice GLYIII proteins, specifically OpGLYIII-3, OmGLYIII-3, and OnGLYIII-5, exhibit high catalytic efficiency over a broad pH range and at higher temperatures under in vitro assay conditions. Overexpression of these proteins was found to impart substantial stress resilience to the transformed E. coli cells. These findings collectively suggest that GLYIII proteins constitute a key component of the abiotic stress response machinery in wild rice.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147607761","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}

引用次数: 0

A Universal, Cost-Effective, and Efficient rRNA Depletion Method for Bacterial mRNA Enrichment. 一种通用、经济、高效的细菌mRNA富集rRNA耗尽方法。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11362-w

Ravi Chauhan, Hardi Patel, Seema Rawat

引用次数: 0

Fragaria Nubicola (A Wild Strawberry) from Azad Kashmir: Its Molecular Identification and Screening of Thaumatin-Like and Defensin Ec-Amp-D2-Like Proteins. 来自克什米尔地区的野草莓Fragaria Nubicola: Thaumatin-Like和Defensin Ec-Amp-D2-Like蛋白的分子鉴定和筛选。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-03 DOI: 10.1007/s10528-026-11365-7

Amna Shahid Awan, Ruba Shahid, Zahid Mushtaq

引用次数: 0

Oxidative Stress, Genetic Factors and Behavioral Responses to Chemical Exposure: Insights into Cancer Development in Zebrafish (Danio Rerio). 氧化应激，遗传因素和化学暴露的行为反应：斑马鱼癌症发展的见解（Danio Rerio）。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-01 Epub Date: 2025-06-03 DOI: 10.1007/s10528-025-11148-6

Cătălina Ionescu, Viorica Rarinca, Mălina Visternicu, Alin Ciobica, Laura Romila, Vasile Burlui, Mirela Cimpeanu, Bogdan Novac, Bogdan Gurzu

{"title":"Oxidative Stress, Genetic Factors and Behavioral Responses to Chemical Exposure: Insights into Cancer Development in Zebrafish (Danio Rerio).","authors":"Cătălina Ionescu, Viorica Rarinca, Mălina Visternicu, Alin Ciobica, Laura Romila, Vasile Burlui, Mirela Cimpeanu, Bogdan Novac, Bogdan Gurzu","doi":"10.1007/s10528-025-11148-6","DOIUrl":"10.1007/s10528-025-11148-6","url":null,"abstract":"Cancer research in animal models is critical for understanding disease mechanisms and testing potential therapies. Among the various models, zebrafish (Danio rerio) has gained prominence due to its genetic similarity to humans, rapid development, and transparency during early stages. The objective of this article is to explore the zebrafish as a powerful model for studying cancer, particularly focusing on the role of oxidative stress (OS) and genetic factors (oncogenes, tumor suppressor genes) in cancer progression. The interaction between oxidative stress, DNA damage, and genetic mutations is examined, highlighting how these processes contribute to tumor formation. Additionally, the study investigates the various behavioral tests used to assess the effects of carcinogenic and non-carcinogenic substances, such as sodium arsenate (As(V), N-ethyl-N-nitrosourea (ENU), dimethylbenzanthracene (DMBA), N-methyl-N1-nitro-N-nitrosoguanidine (MNNG), Atrazine and Methylmercury (MeHg) on zebrafish cognitive functions. The review included 170 papers published in English up to December 2024 and was conducted in accordance with PRISMA guidelines, using multiple electronic databases (Science Direct, PubMed and Google Scholar) to perform a comprehensive and systematic search using keywords. Through this approach, zebrafish emerge as a versatile model for cancer research, offering insights into both the physiological and behavioral impacts of chemical exposures.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"2968-3021"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13086743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Molecular Study of the Poly (ADP-ribose) Polymerase-1 Gene as a Promotor of Inflammation-Driven Colorectal Carcinoma. Poly （adp -核糖）聚合酶-1基因作为炎症驱动的结直肠癌启动子的分子研究。

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-01 Epub Date: 2025-06-19 DOI: 10.1007/s10528-025-11159-3

Eman Hamdey Hamed Aziz, Alshimaa Magdy, Moustafa Abo Zaid, Raymonde Hanna Assaf

{"title":"Molecular Study of the Poly (ADP-ribose) Polymerase-1 Gene as a Promotor of Inflammation-Driven Colorectal Carcinoma.","authors":"Eman Hamdey Hamed Aziz, Alshimaa Magdy, Moustafa Abo Zaid, Raymonde Hanna Assaf","doi":"10.1007/s10528-025-11159-3","DOIUrl":"10.1007/s10528-025-11159-3","url":null,"abstract":"Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related deaths worldwide. Chronic inflammation is a risk factor for various cancers, including CRC. However, the specific mechanisms by which inflammation contributes to cancer development are not fully understood. Our study assessed PARP1 and NF-κB mRNA expression in different stages of CRC, aiming to elucidate their roles in inflammation-driven CRC pathogenesis and define their stage-specific expression patterns. The study involved 35 CRC tissue samples and a control group of 25 samples from the healthy margins of colon cancer. PARP1 and NF-κB mRNA levels were determined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) in tumor tissue samples, as well as the adjacent part of normal tissue. Our results revealed that PARP1 and NF-κB/p50 gene expression was significantly higher in CRC vs. control. Furthermore, there was a positive correlation between PARP1 and NF-κB/p50 mRNA expression levels. PARP1 was found to be responsible for 14.5% of the change in NF-κB/p50. Both PARP1 and NF-κB/p50 had high accuracy in the diagnosis of CRC with AUC = 0.905 and 0.956, respectively. This study revealed the overexpression of PARP1 and NF-κB genes in CRC cases, which suggests that the use of PARP1 inhibitors and anti-inflammatory drugs could be effective in CRC treatment. PARP1/NF-κB showed preliminary associations with CRC that merit diagnostic evaluation in larger studies. Our data suggest that PARP1 and NF-κB expression may complement CEA in characterizing CRC biology though future studies must determine whether these markers have independent prognostic value.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"2743-2763"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144332153","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}

引用次数: 0

HPV16 E7 Enhances Cell Stemness via RTKN2-Mediated Activation of the NF-κB Pathway in Cervical Cancer. hpv16e7通过rtkn2介导的NF-κB通路激活增强宫颈癌细胞干细胞性

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-01 Epub Date: 2025-06-10 DOI: 10.1007/s10528-025-11144-w

Min Yang, Yuejiang Ma, Zhu Cao, Hong Zhan, Ye Jin, Xiufeng Huang, Shizhou Yang

{"title":"HPV16 E7 Enhances Cell Stemness via RTKN2-Mediated Activation of the NF-κB Pathway in Cervical Cancer.","authors":"Min Yang, Yuejiang Ma, Zhu Cao, Hong Zhan, Ye Jin, Xiufeng Huang, Shizhou Yang","doi":"10.1007/s10528-025-11144-w","DOIUrl":"10.1007/s10528-025-11144-w","url":null,"abstract":"Cervical cancer (CC) is one of the most prevalent cancers among women globally. The primary cause of CC is persistent infection with high-risk types of human papillomavirus (HPV), particularly HPV16, whose E7 oncoprotein plays a pivotal role in carcinogenesis and the maintenance of stem cell-like characteristics. RTKN2 participates in the progression of various cancers. However, the precise functions of RTKN2 in regulating CC remain unclear. The effects of HPV16 E7 in CC cells were evaluated using MTT, western blotting, Transwell, and sphere formation assays. Transcriptome sequencing and bioinformatics analyses were used to identify the targets of HPV16 E7. The expression levels of the target (RTKN2) in clinical samples were assessed using immunohistochemistry (IHC). The function and mechanism of RTKN2 in CC cells were investigated by the knockdown and overexpression approaches, as well as dual-luciferase reporter assay. HPV16 E7 exhibited a positive correlation on the malignant phenotype and stemness of CC cells. RTKN2 was identified as a target of HPV16 E7, and a reduction in its expression levels was caused by knockdown of HPV16 E7. The high expression of RTKN2 was associated with a poor prognosis in CC. HPV16 E7 may regulate RTKN2 expression by modulating the binding activity of E2F1 to the RTKN2 promoter. Upregulated RTKN2 activates the NF-κB signaling pathway, enhances the stemness of CC cells, and ultimately promotes malignant progression.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"2582-2604"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13086698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Silencing THBS1 in M2 Macrophages Exerts an Inhibitory Effect on Tongue Squamous Cell Carcinoma by Suppressing TGF-β Pathway. 沉默M2巨噬细胞THBS1通过抑制TGF-β通路对舌鳞癌的抑制作用

IF 1.6 4区生物学

Biochemical Genetics Pub Date : 2026-04-01 Epub Date: 2025-07-01 DOI: 10.1007/s10528-025-11179-z

Jia-Yu Liu, Yi-Yang Chen, Zhi-Yuan Lu, Li-Li Chen

{"title":"Silencing THBS1 in M2 Macrophages Exerts an Inhibitory Effect on Tongue Squamous Cell Carcinoma by Suppressing TGF-β Pathway.","authors":"Jia-Yu Liu, Yi-Yang Chen, Zhi-Yuan Lu, Li-Li Chen","doi":"10.1007/s10528-025-11179-z","DOIUrl":"10.1007/s10528-025-11179-z","url":null,"abstract":"Tongue squamous cell carcinoma (TSCC) is a common oral and maxillofacial malignancy. Thrombospondin-1 (THBS1), acting in the extracellular matrix, impacts cell migration and proliferation, significantly contributing to tumor development. We aim to investigate the role of THBS1 in TSCC. Differentially expressed genes (DEGs) were screened by sequencing using macrophages obtained from TSCC patients. Hub genes were identified from protein-protein interaction (PPI) networks. Proliferation, migration, and invasion were assessed to determine the role of THBS1 in TSCC cells. Hematoxylin-eosin staining and immunohistochemistry were utilized to explore the effect of THBS1 on xenograft models. Western blot was used to determine protein expression related to M2 macrophages, angiogenesis, epithelial-mesenchymal transition (EMT), and key pathways. MMP2, THBS1, EDN1, and PERP were hub genes of TSCC, which were upregulated in M2 macrophages. Silencing THBS1 suppressed the polarization of M2 macrophages, proliferation, migration, and invasion of TSCC cells. THBS1 silencing in M2 macrophages suppressed tumor growth in mice. THBS1 silencing in M2 macrophages inhibited angiogenesis and EMT in TSCC. TGF-β pathway was a potential downstream pathway by comprehensive bioinformatics analysis. Silencing THBS1 decreased the expression of TGF-β pathway proteins in TSCC. The activation of the TGF-β pathway induced by SRI-011381 counteracted the inhibitory impacts of THBS1 silencing on M2 macrophage polarization, proliferation, migration, and invasion of TSCC cells. THBS1 silencing inhibits the polarization of M2 macrophages to hinder TSCC progression via suppressing the TGF-β pathway.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"2874-2897"},"PeriodicalIF":1.6,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144537659","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}

引用次数: 0