Biochemical Genetics最新文献

{"title":"Secretory Carrier Membrane Protein 3 Knockdown Attenuates Hypoxic Pulmonary Hypertension Potentially Involving WW Domain-Containing E3 Ubiquitin Protein Ligase 1","authors":"Peng Ye,&nbsp;Le Zhu,&nbsp;Peng Chu,&nbsp;Dongchen Wang,&nbsp;Jie Luo,&nbsp;Juan Zhang,&nbsp;Xiaomin Jiang","doi":"10.1007/s10528-026-11446-7","DOIUrl":"10.1007/s10528-026-11446-7","url":null,"abstract":"<div><p>We aimed to investigate whether secretory carrier membrane protein 3 (SCAMP3) knockdown could attenuate hypoxic pulmonary hypertension (HPH) potentially involving WW domain-containing E3 ubiquitin protein ligase 1 (WWP1). Fifty mice were randomly assigned to a blank group, an HPH group, a small interference (si)-negative control (NC) group, a si-SCAMP3 group and a si-SCAMP3 + si-WWP1 group (<i>n</i> = 10 per group). Pulmonary function, right ventricular systolic pressure (RVSP) and the Fulton index [RV/(LV + S)] were measured. Hematoxylin-eosin staining was performed to evaluate pulmonary vascular morphology and the pulmonary vascular remodeling indexes were calculated. Compared with the normoxia group, the hypoxia group exhibited significantly increased SCAMP3 relative expression, OD₄₅₀ value and SCAMP3 protein expression in HPASMCs, while the apoptosis rate and WWP1 protein expression were significantly decreased (<i>P</i> &lt; 0.05). Compared with the hypoxia group, the hypoxia + si-SCAMP3 group showed significantly reduced SCAMP3 relative expression, OD₄₅₀ value and SCAMP3 protein expression, but significantly increased apoptosis rate and WWP1 protein expression (<i>P</i> &lt; 0.05). Compared with the hypoxia + si-SCAMP3 group, the hypoxia + si-SCAMP3 + si-WWP1 group exhibited partial restoration of SCAMP3 expression increased OD₄₅₀ value and SCAMP3 protein expression, and decreased apoptosis rate and WWP1 protein expression (<i>P</i> &lt; 0.05). These findings suggest that SCAMP3 knockdown may inhibit hypoxia-induced proliferation and promote apoptosis potentially involving WWP1, thereby alleviating pulmonary vascular remodeling in HPH mice.</p><h3>Graphical Abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8537 - 8551"},"PeriodicalIF":1.9,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148878811","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":"Mitogenomic Architecture and Phylogenetic Insights Shed Light on the Matrilineal Evolution of the Mahseer Fish Neolissochilus sumatranus (Cyprinidae: Torinae) in Southeast Asia","authors":"Sekar Larashati,&nbsp;Angkasa Putra,&nbsp;Sarifah Aini,&nbsp;Gema Wahyudewantoro,&nbsp;Mey Ristanti Widoretno,&nbsp;Dwi Febrianti,&nbsp;Huria Marnis,&nbsp;Imam Civi Cartealy,&nbsp;Tri Widiyanto,&nbsp;Ruby Vidia Kusumah,&nbsp;Anik Budhi Dharmayanthi,&nbsp;Muhammad Hilman Fu’adil Amin,&nbsp;Hyun-Woo Kim,&nbsp;Shantanu Kundu","doi":"10.1007/s10528-026-11445-8","DOIUrl":"10.1007/s10528-026-11445-8","url":null,"abstract":"&lt;div&gt;&lt;p&gt;The systematics and sustainable fisheries management of &lt;i&gt;Neolissochilus sumatranus&lt;/i&gt; (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 &lt;i&gt;N. sumatranus&lt;/i&gt;, 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 &lt;i&gt;Neolissochilus&lt;/i&gt; 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 &lt;i&gt;N. sumatranus&lt;/i&gt; 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 &lt;i&gt;Cytb&lt;/i&gt; in &lt;i&gt;Neolissochilus&lt;/i&gt; species, indicating that the majority of these genes are subject to purifying selection. The secondary structures of all 22 transfer RNAs in &lt;i&gt;N. sumatranus&lt;/i&gt; retained the canonical cloverleaf configuration, displaying no reduction of the dihydrouridine arm typically observed in &lt;i&gt;tRNA-Ser1&lt;/i&gt;, thereby reflecting structural variation within cyprinids. The comparative assessment of the CR among &lt;i&gt;Neolissochilus&lt;/i&gt; 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 &lt;i&gt;Neolissochilus&lt;/i&gt; 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 &lt;i&gt;N. sumatranus&lt;/i&gt;, &lt;i&gt;N. hendersoni&lt;/i&gt;, and &lt;i&gt;N. soroides&lt;/i&gt;, which may be associated with their shared biogeographic history in the Sundaland region. The cladistic relationships between the genera &lt;i&gt;Neolissochilus&lt;/i&gt; and &lt;i&gt;Tor&lt;/i&gt; remain poorly resolved, with &lt;i&gt;Neolissochilus benasi&lt;/i&gt; and &lt;i&gt;Tor remadevii&lt;/i&gt; potentially constituting distinct lineages outside the core &lt;i&gt;Neolissochilus&lt;/i&gt; and &lt;i&gt;Tor&lt;/i&gt; clades, respectively. The phylogenetic positions of &lt;i&gt;Tor douronensis&lt;/i&gt; and &lt;i&gt;T. tambra&lt;/i&gt; 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 &lt;i&gt;N. sumatranus&lt;/i&gt; clarifies its phylogenetic position within","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8509 - 8536"},"PeriodicalIF":1.9,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148856776","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":"Kallikrein-Related Peptidase 4 Inhibits Laryngeal Squamous Cell Carcinoma Potentially via Involvement of the Wnt/β-Catenin Signaling Pathway","authors":"Jinxin Wang,&nbsp;Lixue Jiang,&nbsp;Jiahui Han,&nbsp;Chunguang Dong","doi":"10.1007/s10528-026-11443-w","DOIUrl":"10.1007/s10528-026-11443-w","url":null,"abstract":"<div><p>Laryngeal 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.</p></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8492 - 8508"},"PeriodicalIF":1.9,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1007/s10528-026-11443-w.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148786729","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}

{"title":"Report of Mucopolysaccharidosis Type VI Disorder in Pakistani Patients Presenting Two Novel ARSB Variants","authors":"Bibi Zubaida,&nbsp;Hajira Batool,&nbsp;Huma Arshad Cheema,&nbsp;Muhammad Naeem","doi":"10.1007/s10528-026-11444-9","DOIUrl":"10.1007/s10528-026-11444-9","url":null,"abstract":"<div><p>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 <i>ARSB</i> 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 <i>ARSB</i> 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&gt;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.</p><h3>Graphical Abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8480 - 8491"},"PeriodicalIF":1.9,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148786672","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":"miR-4632-5p Alleviates Lumbar Disc Degeneration by Targeting MAP3K11: A Novel Role in Mitigating Nucleus Pulposus Cell Degeneration","authors":"Xinfei Lan,&nbsp;Haiyan Xue,&nbsp;Mianlong Lin,&nbsp;Jinxiang Zhang,&nbsp;Qingfeng Zhang,&nbsp;Canhua Xu","doi":"10.1007/s10528-026-11442-x","DOIUrl":"10.1007/s10528-026-11442-x","url":null,"abstract":"<div><p>Lumbar 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 (<i>n</i>=22) and normal intervertebral disc (IVD) tissues (<i>n</i>=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 (<i>P</i>&lt;0.0001), and their expression showed a strong negative correlation (<i>r</i>=-0.82, <i>P</i>&lt;0.0001). miR-4632-5p targeted the 3′UTR of MAP3K11, reducing dual luciferase activity by 35.9% (<i>P</i>&lt;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 <i>P</i>&lt;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.</p><h3>Graphical Abstract</h3><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8461 - 8479"},"PeriodicalIF":1.9,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148757297","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":"MMP-9 Gene Ablation Preserves Ejection Fraction During “Single-Hit” Model of HFrEF","authors":"Oluwaseun E. Akinterinwa,&nbsp;Mahavir Singh,&nbsp;Yuting Zheng,&nbsp;Suresh C. Tyagi","doi":"10.1007/s10528-026-11438-7","DOIUrl":"10.1007/s10528-026-11438-7","url":null,"abstract":"<div><p>Heart 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.</p><h3>Graphic Abstract</h3><p>Above panel is signaling of cell synthesis, expansion and contraction modes. Lower panel role of mitochondrial mitophagy in HFrEF</p><div><figure><div><div><picture><source><img></source></picture></div></div></figure></div></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8442 - 8460"},"PeriodicalIF":1.9,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148700604","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":"Complete Mitochondrial Genome of Turrum coeruleopinnatum Provides Phylogenetic Context and Candidate Selection Signals Within Carangidae","authors":"Yang Chen,&nbsp;Xuehui Diao,&nbsp;Yixuan Lin,&nbsp;Jinghua Wu,&nbsp;Ruling Wei","doi":"10.1007/s10528-026-11439-6","DOIUrl":"10.1007/s10528-026-11439-6","url":null,"abstract":"<div><p>The complete mitochondrial genome of <i>Turrum coeruleopinnatum</i> was sequenced and characterized to expand mitogenomic resources for Carangidae and to evaluate its phylogenetic placement and candidate selection signals. The circular mitogenome was 16,553 bp in length and contained 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and one control region. Its overall A + T content was 54.04%, and the gene arrangement was consistent with the conserved vertebrate mitochondrial organization. Most tRNAs exhibited typical cloverleaf secondary structures, whereas <i>trnS1</i> lacked the dihydrouridine arm. A maximum-likelihood tree inferred from the concatenated amino-acid sequences of 13 mitochondrial protein-coding genes provided a mitochondrial phylogenetic context for <i>T. coeruleopinnatum</i> within Carangidae.PAML branch-site analyses identified candidate gene-level signals in <i>atp6</i>, <i>cytb</i>, <i>nad3</i>, and <i>nad5</i>. Four representative residues (ATP6-126T, ND3-94 L, ND5-438 V, and ND5-520 S) were retained because the corresponding gene-level likelihood-ratio tests were significant and their Bayes empirical Bayes posterior probabilities were at least 0.90. Complementary HyPhy analyses showed limited concordance: MEME detected six episodically selected sites that did not overlap with the four retained PAML candidates, FEL detected no sites under pervasive positive selection and indicated widespread purifying selection, BUSTED detected no significant gene-wide episodic diversifying selection, and aBSREL identified only limited branch-level signals. Foreground–background residue comparisons and predicted topological contexts provided descriptive biochemical and spatial information but did not establish functional or adaptive effects. These residues should therefore be regarded as candidate sites requiring further comparative and functional validation.</p></div>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"64 6","pages":"8421 - 8441"},"PeriodicalIF":1.9,"publicationDate":"2026-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148676631","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":"Transcription Activation of DEPDC1B Upon EBF1 Loss Contributes to Cell Cycle Progression and Epithelial-Mesenchymal Transition in Colon Adenocarcinoma.","authors":"Yang Li, Xin Shi, Baoyong Ling, Xiangyu Su, Jing Zhang","doi":"10.1007/s10528-025-11307-9","DOIUrl":"10.1007/s10528-025-11307-9","url":null,"abstract":"<p><p>Grounded on bioinformatics insights, this study investigates the interaction between DEP domain containing 1B (DEPDC1B) and early B cell factor 1 (EBF1), their expression patterns, and their functions in the progression of colon adenocarcinoma (COAD). DEPDC1B was identified as a potential oncogene aberrantly expressed in COAD, and its high expression was detected in COAD cell lines. DEPDC1B silencing in COAD cell lines while blocking epithelial-mesenchymal transition (EMT), dissemination, and expansion of COAD cells in vitro. Additionally, DEPDC1B knockdown suppressed tumorigenic activity and metastasis of mouse CT26 cells in isograft tumor models. EBF1, poorly expressed in COAD, was found to repress DEPDC1B transcription. EBF1 overexpression reduced DEPDC1B expression, thus diminishing the malignant properties of cancer cells. Nevertheless, its tumor-suppressive effects were negated by DEPDC1B restoration. EBF1 presented a promoter hypermethylation pattern in COAD cell lines, in which its expression was restored upon treatment of the methylation inhibitor 5-azacytidine. In conclusion, this study highlights that the hypermethylation of EBF1 leads to transcription activation of DEPDC1B, which promotes cell cycle progression, EMT, and malignant progression in COAD. Restoring EBF1 levels or suppressing DEPDC1B expression may be promising strategies for COAD management.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5665-5684"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13388497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145766817","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}

{"title":"Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.","authors":"Anghela Reinoso-Castillo, Memoona Ramzan, Andrea Carrera-Gonzalez, Christian Rivas-Iglesias, Stefanny Montufar, Rodrigo Vinueza-Gavilanes, Carson Smith, Arianne Llamos-Paneque, Mustafa Tekin","doi":"10.1007/s10528-026-11319-z","DOIUrl":"10.1007/s10528-026-11319-z","url":null,"abstract":"<p><p>The genetic etiology of hearing loss (HL) in Ecuador remains largely unexplored. This study investigates the spectrum of genetic variants associated with HL in a cohort of 66 Ecuadorian families using Exome or Genome sequencing (ES/GS). We identified pathogenic and likely pathogenic variants underlying HL in 27 families (41%). While variants were detected in 15 different genes, only GJB2 (in 12 families) and TMC1 (in 3 families) variants were identified in more than one family. The NM_004004.6 (GJB2):c.19 C > T (p.Gln7*) and NM_004004.6 (GJB2):c.35delG (p.Gly12Valfs*2) variants were more common than other alleles in GJB2. In some families, we detected variants of uncertain significance (VUS) in well-established HL genes and classified them as \"possibly solved\" due to their rarity and equivocal functional predictions. This study provides valuable insights into the genetic basis of HL in Ecuador and lays the groundwork for improved regional genetic diagnostics and management.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5792-5806"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13388514/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145942074","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}

{"title":"Genetic Diversity and Population Structure of Tunisian Festuca Arundinacea Schreb. Revealed by Functional Gene-Based Markers.","authors":"Hala Chadded, Karim Guenni, Manna Crespan, Salma Sai-Kachout, Nidhal Chtourou-Ghorbel","doi":"10.1007/s10528-026-11318-0","DOIUrl":"10.1007/s10528-026-11318-0","url":null,"abstract":"<p><p>Tall fescue (Festuca arundinacea Schreb.), taxonomically synonymous with Lolium arundinaceum (Schreb.) Darbysh., is a cool-season perennial grass valued for adaptability, forage quality, and stress tolerance. This study evaluated the genetic diversity and population structure of 32 Tunisian spontaneous populations and 3 local varieties using CAAT-box Derived Polymorphism (CBDP) and Conserved DNA-Derived Polymorphism (CDDP) markers. Out of 16 tested primers (8 CBDP and 8 CDDP), 12 (7 CBDP and 5 CDDP) generated reproducible and polymorphic banding patterns, producing a total of 124 bands for CBDP and 121 bands for CDDP. High polymorphism was observed (86.29% for CBDP; 74.38% for CDDP), with a mean polymorphism information content (PIC) of 0.378, confirming the informativeness of both marker systems. Clustering analyses based on CBDP, CDDP, and combined data revealed some grouping tendencies among populations, but these groupings were not strictly associated with geographic origin, bioclimatic stage, or whether populations were spontaneous or cultivated. STRUCTURE analysis suggested two clusters for each marker system, but accessions showed overlapping membership, indicating weak population structure. The combined dataset detected four admixed groups, yet all populations displayed high admixture, reflecting high genetic diversity and extensive gene flow in this outcrossing species. Analysis of molecular variance (AMOVA) indicated that over 97% of the total genetic variation occurred within regions, while PhiPT values were low but significant (P = 0.004). No isolation by distance was detected with the Mantel test (CBDP: r = 0.011, p = 0.419; CDDP: r = 0.087, p = 0.078). This study is the first to apply CBDP and CDDP markers in Tunisian tall fescue populations, demonstrating their efficiency in revealing genetic diversity. The findings highlight substantial genetic diversity among populations within regions and underscore the value of this germplasm for breeding and conservation efforts.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"5843-5867"},"PeriodicalIF":1.9,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146008177","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}