BIOCHEMICAL GENETICS生化遗传学
BIOCHEMICAL GENETICS(英文缩写 BIOCHEM GENET),ISSN 0006-2928,eISSN 1573-4927,中文译名:生化遗传学 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-11-01 至 2026-10-31，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 2.220 | Q4 |
| 2022 | 2.400 | Q3 |
| 2023 | 2.100 | Q3 |
| 2024 | 1.600 | Q3 |
| 2025 | 1.900 | Q3 |
BIOCHEMICAL GENETICS 最新收录文献
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1. Viral Infection of Cumulus Cells Impairs the Developmental Competence of Ovulated Mouse Oocytes.
1. 卵丘细胞的病毒感染损害排卵小鼠卵母细胞的发育能力PMID:日期:2026-09-18Viral infections in the female reproductive tract pose significant risks to fertility; however, their specific impacts on ovulated oocytes and the role of the surrounding cumulus cells remain unclear. In this study, we examined viral infection experiments and gene expression analyses to investigate the cell type-specific antiviral responses of mouse cumulus-oocyte complexes (COCs) using vesicular stomatitis virus (VSV) as a model RNA virus. Although ovulated oocytes expressed the cytosolic viral receptor retinoic acid-inducible gene-I, they lacked melanoma differentiation-associated gene 5 and laboratory of genetics and physiology 2 gene, which are present in cumulus cells. Exposure of COCs to VSV significantly impaired preimplantation development, reducing cleavage and blastocyst formation rates. Interestingly, no direct viral infection was detected in oocytes or early embryos, possibly due to the physical barrier of the zona pellucida. Direct exposure of denuded oocytes to VSV failed to induce antiviral gene expression or developmental defects. In contrast, co-culturing uninfected oocytes with VSV-infected cumulus cells resulted in developmental impairment. Infected cumulus cells exhibited robust antiviral responses and significantly upregulated retinoic acid-inducible gene-i, interferon-b, interleukin (Il)-6, and tumor necrosis factor-a levels. Correspondingly, oocytes and zygotes expressed the IL-6 receptor subunits Il6ra and Gp130. Overall, viral infection of cumulus cells impaired oocyte developmental competence via indirect paracrine signaling and identified IL-6 as a candidate mediator. These findings provide insights into the mechanisms by which the maternal inflammatory microenvironment influences early embryonic success and highlight the protective yet vulnerable nature of COCs during viral challenge.
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2. TRPV4 is Associated with a Marfan Syndrome-Related Mechanosensitive Gene Program in Aortic Smooth Muscle Cells.
2. TRPV4与主动脉平滑肌细胞中与马凡综合征相关的机械敏感基因程序有关PMID:日期:2026-09-16Marfan syndrome (MFS) aortopathy involves extracellular matrix disruption, altered mechanical cues, and maladaptive vascular smooth muscle cell (VSMC) remodeling. However, the mechanosensitive regulators associated with MFS-related VSMC dysfunction remain unclear. This study aimed to identify and validate mechanosensitive candidate genes in MFS aortopathy. Public VSMC transcriptomic data from GSE128101 were re-analyzed to identify differentially expressed genes (DEGs). Protein-protein interaction analysis, functional enrichment, and minimum redundancy maximum relevance analysis were used to prioritize mechanosensitive candidates. Candidate genes were examined in independent MFS-related datasets and validated by qRT-PCR in primary aortic medial VSMCs from MFS patients and donor controls. TRPV4 localization was assessed by immunofluorescence. TRPV4 function was evaluated in primary human aortic smooth muscle cells using overexpression and siRNA-mediated knockdown, followed by proliferation, wound-closure, inflammatory cytokine, and NF-κB pathway assays. A total of 436 DEGs were identified in MFS-derived aortic VSMCs. Functional analyses highlighted extracellular matrix remodeling, mechanotransduction-related, inflammatory, and cytoskeleton-associated pathways. TRPV4 was the top-ranked mechanosensitive candidate, with TRPM5 also identified as an overlapping candidate. qRT-PCR confirmed increased TRPV4 and TRPM5 expression in MFS-derived VSMCs. MFS-derived VSMCs also showed elevated inflammatory gene expression and enhanced membrane-associated TRPV4 localization. In vitro, TRPV4 overexpression promoted proliferation, wound closure, inflammatory cytokine secretion, and NF-κB pathway phosphorylation, whereas TRPV4 knockdown showed opposite effects. These exploratory findings identify TRPV4 as a leading mechanosensitive candidate associated with MFS-related VSMC remodeling and inflammatory activation. Larger cohorts, MFS-specific models, and direct mechanistic assays are required to determine its biomarker or therapeutic relevance.
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3. Mitogenomic Architecture and Phylogenetic Insights Shed Light on the Matrilineal Evolution of the Mahseer Fish Neolissochilus sumatranus (Cyprinidae: Torinae) in Southeast Asia.
3. 线粒体基因组结构与系统发育研究揭示东南亚马哈鱼 Neolissochilus sumatranus（鲤科：鲃亚科）的母系进化PMID:日期:2026-08-29The systematics and sustainable fisheries management of Neolissochilus sumatranus (Weber and de Beaufort 1916) remain challenging due to taxonomic controversies and limited molecular data. Hence, this study utilized next-generation sequencing to generate a mitogenome of N. sumatranus, morphologically identified from northern Sumatra, Indonesia. The assembled mitogenome of this species is 16,584 bp long and consists of 37 genes and a control region (CR). The comparative analysis with nine other Neolissochilus species revealed a highly conserved genetic organization, with relative synonymous codon usage showing high frequencies for arginine, leucine, and serine. Most protein-coding genes (PCGs) in N. sumatranus used ATG as the initiation codon, a pattern widely observed in vertebrate mitogenomes. Conversely, incomplete stop codons (TA- and T-) are proposed to be completed post-transcriptionally through polyadenylation during mRNA maturation. The nonsynonymous-to-synonymous substitution ratios were below '1' for 12 PCGs, except Cytb in Neolissochilus species, indicating that the majority of these genes are subject to purifying selection. The secondary structures of all 22 transfer RNAs in N. sumatranus retained the canonical cloverleaf configuration, displaying no reduction of the dihydrouridine arm typically observed in tRNA-Ser1, thereby reflecting structural variation within cyprinids. The comparative assessment of the CR among Neolissochilus species demonstrated four conserved sequence blocks (CSB-D, CSB-1, CSB-2, and CSB-3) exhibiting species-specific variation, while the tandem repeats were detected in only six of the eight analyzed species. These non-coding regions also exhibited differences in length and nucleotide composition among the examined Neolissochilus species, highlighting their utility for comparative genetic studies. However, their applicability as population-level markers remains to be evaluated using multiple specimens per species to capture intraspecific variation. The mitogenome-based phylogenetic inference corroborates the monophyly of Torinae and suggests a close evolutionary relationship among N. sumatranus, N. hendersoni, and N. soroides, which may be associated with their shared biogeographic history in the Sundaland region. The cladistic relationships between the genera Neolissochilus and Tor remain poorly resolved, with Neolissochilus benasi and Tor remadevii potentially constituting distinct lineages outside the core Neolissochilus and Tor clades, respectively. The phylogenetic positions of Tor douronensis and T. tambra are inconsistent despite their taxonomic synonymy, emphasizing the need for morpho-genetic studies across mainland and island Southeast Asian populations. Overall, the novel mitogenome of N. sumatranus clarifies its phylogenetic position within Torinae and provides a foundation for future systematics study.
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4. Kallikrein-Related Peptidase 4 Inhibits Laryngeal Squamous Cell Carcinoma Potentially via Involvement of the Wnt/β-Catenin Signaling Pathway.
PMID:日期:2026-08-20Laryngeal squamous cell carcinoma (LSCC) is one of the most common malignant tumors of the head and neck with an increasing incidence worldwide. As a secreted serine protease, Kallikrein-related peptidase 4 (KLK4) has been reported to exert divergent tumor-modulating roles across multiple malignancies: it acts as a tumor suppressor in some cancers while promoting progression in others. However, its role in LSCC remains unclear. The aberrant activation of Wnt/β-catenin signaling is closely linked to tumor progression in most malignancies, hence we focused on this pathway to explore the downstream mechanism of KLK4. The expression of KLK4 was analyzed in clinical samples and LSCC cell lines using reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blotting. AMC-HN-8 cells were transfected with KLK4 plasmids, and the effects on proliferation, apoptosis, and epithelial-mesenchymal transition (EMT) were assessed using EDU assays, flow cytometry, and western blotting. The regulatory role of KLK4 on the Wnt/β-catenin signaling pathway was further investigated by treating cells with the Wnt/β-catenin agonist SKL2001. KLK4 expression was significantly downregulated in LSCC clinical samples and cell lines. KLK4 overexpression in LSCC cells inhibited cell proliferation, promoted apoptosis, and reversed the abnormal expression of EMT-related molecular markers. Moreover, KLK4 overexpression modulated the Wnt/β-catenin signaling by downregulating Wnt3a, β-catenin, and downstream targets. Treatment with SKL2001 reversed these effects by restoring cell proliferation, reducing apoptosis, and promoting EMT. KLK4 modulates LSCC cell proliferation, apoptosis and the expression of EMT-related markers, which are associated with the activity of the Wnt/β-catenin signaling pathway.
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5. Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants.
5. 巴基斯坦患者中粘多糖贮积症VI型障碍的报告：呈现两种新型ARSB变异体PMID:日期:2026-08-19[中文摘要] 黏多糖贮积症VI型（MPS-VI，Maroteaux-Lamy综合征）是一种由ARSB基因编码的芳基硫酸酯酶B（arylsulfatase B）缺陷所致的遗传性进行性疾病。酶活性缺陷导致糖胺聚糖在溶酶体中蓄积，进而引起多种组织和器官增大。由于MPS-VI与其他MPS疾病的临床症状存在重叠，诊断需基于临床、生化和分子检查的综合评估。本研究招募了两名患MPS-VI的无关巴基斯坦患者。患者的诊断基于临床评估和生化指标。我们对ARSB基因进行了直接DNA测序，以筛查患者及其家系中的致病变异。所有编码外显子及内含子-外显子边界均经PCR扩增并进行Sanger测序。使用计算机模拟工具预测变异的致病性，随后依据ACMG指南进行分类。对患者的分子筛查发现了两个新变异：一个2 bp缺失NM_000046.5:c.511_512del和一个错义替换NM_000046.5:c.166G>A。计算机模拟评估支持所发现变异对蛋白质功能的有害影响，从而导致MPS-VI表型。本研究在扩展突变谱方面具有重要意义，并可能有助于患病家系的遗传咨询和产前诊断。据我们所知，这是来自巴基斯坦的第二份MPS-VI临床和分子遗传学报告。
[英文摘要] Mucopolysaccharidosis type VI (MPS-VI, Maroteaux-Lamy syndrome) is an inherited progressive disorder caused by the deficiency of the arylsulfatase B enzyme encoded by the ARSB gene. The deficient enzyme activity results in the accumulation of glycosaminoglycans in lysosomes with consequent enlargement of multiple tissues and organs. Due to overlapping clinical symptoms of MPS-VI with other MPS disorders, diagnosis is based on cumulative evaluation of clinical, biochemical, and molecular investigations. The current study recruited two unrelated Pakistani patients suffering from MPS-VI. The diagnosis of the patients was based on clinical assessments and biochemical parameters. We performed direct DNA sequencing of the ARSB gene to screen for pathogenic variants in the patients and their families. All coding exons and intron-exon boundaries were PCR-amplified and subjected to Sanger sequencing. In silico tools were used to predict the pathogenicity of the variants, which were then classified according to the ACMG guidelines. Molecular screening of the patients identified two novel variants: a 2-bp deletion NM_000046.5:c.511_512del and a missense substitution NM_000046.5:c.166G>A. In silico evaluation supported the deleterious effects of the identified variants on the protein function, leading to the MPS-VI phenotype. The study has its significance in expanding the mutation spectrum and may help the affected families in genetic counseling and prenatal diagnosis. To our knowledge, this is the second clinical and molecular genetic report of MPS-VI from Pakistan.
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6. miR-4632-5p Alleviates Lumbar Disc Degeneration by Targeting MAP3K11: A Novel Role in Mitigating Nucleus Pulposus Cell Degeneration.
6. miR-4632-5p通过靶向MAP3K11缓解腰椎间盘退变：减轻髓核细胞退变的新作用PMID:日期:2026-08-14Lumbar disc degeneration (LDD) is a major cause of chronic low back pain, and current treatments only provide symptomatic relief. This study aimed to investigate the role of miR-4632-5p and its target MAP3K11 in the pathogenesis of LDD. Bioinformatics analysis was used to predict target genes of miR-4632-5p. LDD tissues (n=22) and normal intervertebral disc (IVD) tissues (n=19) were collected to detect the expression of miR-4632-5p and MAP3K11 by RT-qPCR. A dual-luciferase reporter assay validated their direct interaction. In vitro, TNF-α-induced human nucleus pulposus cells (HNPCs) degeneration models were used to evaluate the effects of miR-4632-5p/MAP3K11 on cell viability, apoptosis, oxidative stress, and inflammatory cytokine secretion via CCK-8, flow cytometry, and ELISA. miR-4632-5p was significantly downregulated in LDD tissues, whereas MAP3K11 was upregulated (P<0.0001), and their expression showed a strong negative correlation (r=-0.82, P<0.0001). miR-4632-5p targeted the 3'UTR of MAP3K11, reducing dual luciferase activity by 35.9% (P<0.001). Overexpression of miR-4632-5p alleviated TNF-α-induced HNPC injury by enhancing cell viability, reducing the apoptotic rate by approximately 26%, improving redox homeostasis (lower MDA/ROS, higher SOD), and reduced the secretion of pro-inflammatory cytokines (IL-6, IL-1β, IL-8, IL-17) by 19%-25% (all P<0.001). These effects were abolished by concurrent MAP3K11 overexpression. Western blotting confirmed that miR-4632-5p reduced MAP3K11 protein levels and inhibited TNF-α-induced NF-κB p65 phosphorylation. In summary, the dysregulated expression of miR-4632-5p and MAP3K11 suggests their potential as exploratory biomarker candidates for LDD, and the miR-4632-5p/MAP3K11 axis represents a preliminary candidate strategy for LDD treatment.
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7. MMP-9 Gene Ablation Preserves Ejection Fraction During "Single-Hit" Model of HFrEF.
7. MMP-9基因消融在HFrEF“单次打击”模型中保留射血分数PMID:日期:2026-08-10Heart failure is a leading cause of hospitalization worldwide, and evaluating the severity of heart failure often relies on the ejection fraction. Matrix metalloproteinases (MMPs) are crucial for tissue remodeling, and their dysregulation is linked to various pathologies, including cardiovascular diseases. Prior studies have demonstrated that MMP-9 gene deletion can promote angiogenesis, attenuate inflammation, and prevent vascular leakiness. Although MMP-9 is known to contribute to heart failure, it remains unclear whether the lack of the MMP-9 gene impacts heart failure with reduced ejection fraction (HFrEF) by preserving EF. We investigated whether removing the MMP-9 gene can help maintain ejection fraction during the transition from diastolic to systolic heart failure. To test the hypothesis, surgical creation of an arteriovenous fistula (AVF) was made between the abdominal aorta and inferior vena cava ~ 0.5 cm below the left kidney of the mice using a 25-gauge needle to create a chronic volume overload, a "single-hit" model of HFrEF. The mice were grouped into four separate categories: (i) Wild type (WT) sham, (ii) WT-AVF, (iii) MMP9-KO-sham, and (iv) MMP9-KO-AVF. The "in-gel" zymography technique quantified proteolytic activity on substrate gels. Protein expression levels of heart tissues were assessed by the Western blots. The multi-organ injury was assessed using tissue-specific creatine kinase isoforms, and cardiac function-related datasets were collected using an ultrasound procedure and myobath. The results showed that MMP-9 gene ablation preserves ejection fraction during HFrEF by enhancing the processes of (a) cell synthesis, adhesion, and contraction signaling, (b) mitigating multi-organ injury, (c) mitigating mitophagy, and (d) mitigating endocardial endothelial myocyte uncoupling.
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8. Complete Mitochondrial Genome Analysis of Atypopenaeus stenodactylus and Its Phylogenetic Significance Within Penaeidae.
8. 狭指异对虾的线粒体全基因组分析及其在对虾科中的系统发育意义PMID:日期:2026-07-27[中文摘要] 对虾总科（Penaeoidea）内部的系统发育关系，尤其是对虾科（Penaeidae）各分类群之间的关系，长期以来一直存在争议。为扩充对虾科线粒体基因组资源并评估窄指异对虾（Atypopenaeus stenodactylus，Stimpson，1860）的系统发育位置，我们对其完整线粒体基因组进行了测序和注释，并分析了基因组成、密码子使用、tRNA二级结构、选择压力、种内线粒体基因组变异及系统发育关系。窄指异对虾线粒体基因组为典型的闭合环状双链DNA分子，全长15,933 bp，包含13个蛋白质编码基因（PCGs）、22个tRNA基因、2个rRNA基因和1个D-loop区，具有明显的A+T偏好性。22个tRNA中，除trnS1缺乏DHU臂外，其余均形成典型的三叶草结构，但部分存在有限的局部变异。13个PCGs的Ka/Ks值均小于1，表明整体处于纯化选择；其中nad6的Ka/Ks值最高，cox1最低。对三个可获得的窄指异对虾线粒体基因组（PV007824、PX672768和PV434778）的比较分析显示，基因顺序保守、序列分歧较低，变异主要集中于非编码D-loop区。基于13个PCGs的系统发育分析将窄指异对虾置于对虾科内，并显示其与新对虾属（Metapenaeus）、Alcockpenaeopsis属、Batepenaeopsis属和糙对虾属（Trachypenaeus）关系密切，但传统意义上的对虾科单系性未被恢复。纳入三个同种线粒体基因组后，PV007824、PX672768和PV434778聚为一支，进一步支持了所推断系统发育位置的稳定性。总体而言，本研究丰富了对虾科的线粒体基因组资源，并为解决对虾总科内部系统发育关系提供了新的分子证据。
[英文摘要] Phylogenetic relationships within Penaeoidea, particularly among taxa of Penaeidae, have long remained controversial. To expand mitogenomic resources for Penaeidae and evaluate the phylogenetic position of Atypopenaeus stenodactylus (Stimpson, 1860), we sequenced and annotated its complete mitochondrial genome and analyzed gene composition, codon usage, tRNA secondary structure, selective pressure, intraspecific mitogenomic variation and phylogenetic relationships. The mitogenome of A. stenodactylus is a typical closed circular double-stranded DNA molecule of 15,933 bp, containing 13 protein-coding genes (PCGs), 22 tRNA genes, two rRNA genes and one D-loop region, with a pronounced A + T bias. Among the 22 tRNAs, all except trnS1, which lacks the DHU arm, formed typical cloverleaf structures, although some showed limited local variation. All 13 PCGs had Ka/Ks values below 1, indicating overall purifying selection; nad6 showed the highest Ka/Ks value, whereas cox1 had the lowest. Comparative analysis of the three available A. stenodactylus mitogenomes, PV007824, PX672768 and PV434778, revealed conserved gene order and low sequence divergence, with variation mainly concentrated in the non-coding D-loop region. Phylogenetic analysis based on 13 PCGs placed A. stenodactylus within Penaeidae and showed close relationships with Metapenaeus, Alcockpenaeopsis, Batepenaeopsis and Trachypenaeus, although traditional Penaeidae monophyly was not recovered. After inclusion of the three conspecific mitogenomes, PV007824, PX672768 and PV434778 clustered together, further supporting the stability of the inferred phylogenetic position. Overall, this study enriches mitogenomic resources for Penaeidae and provides new molecular evidence for resolving phylogenetic relationships within Penaeoidea.
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9. DSSMST: A Deterministic State Space Model for Self-Supervised Spatial Domain Identification in Spatial Transcriptomics.
9. DSSMST：一种用于空间转录组学中自监督空间域识别的确定性状态空间模型PMID:日期:2026-07-27Spatial transcriptomics (ST) has redefined our exploration of tissue-level cellular heterogeneity and spatial architecture; yet accurately pinpointing functional regions within complex, high-dimensional datasets remains a pressing hurdle. To tackle this, we introduce DSSMST, a Deterministic State Space Model for Spatial Transcriptomics, as a self-supervised learning (SSL) framework that integrates a Deterministic State Space Model (DSSM), graph neural networks (GNNs), and contrastive learning. Central to DSSMST is the DSSM module, whose robust dynamic modeling capacity enables it to capture spatial gradient variations and continuous dependencies in ST data-overcoming the limitations of static graph-based approaches-thereby establishing a solid basis for precise spatial domain identification. Complementing this, a customized self-supervised contrastive learning mechanism refines the latent embedding space, empowering the model to better distinguish between subtly differing spatial domain features. This integration effectively elevates the overall accuracy of spatial domain delineation. We assessed DSSMST on multiple representative ST datasets using diverse metrics. Experimental findings reveal that DSSMST achieves leading spatial domain identification accuracy and maintains competitive robustness and generalization across multiple datasets, underscoring its strong potential for advancing ST research. The source code, tutorials, and reproducibility instructions are publicly available at https://github.com/JiruiZhang/DSSMST .
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10. Retraction Note: IGF2 is Deregulated During the Development of Uterine Cervical Carcinoma in Indian Patients.
PMID:日期:2026-07-24该文献暂无摘要。