Gene Reports最新文献

{"title":"Evaluation of the possible association of ZNF804A variant rs7597593 with bipolar disorder in an Iranian population","authors":"Mahsa Zobeiry ,&nbsp;Mohsen Razafsha ,&nbsp;Hoorie Mohaghghegh ,&nbsp;Esmaeil Shahsavand Ananloo","doi":"10.1016/j.genrep.2025.102276","DOIUrl":"10.1016/j.genrep.2025.102276","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the association between the selected zinc finger protein 804 A gene (<em>ZNF804A</em>) variant (rs7597593) with bipolar disorder (BD) in an Iranian population.</div></div><div><h3>Participants and Methods</h3><div>The single nucleotide polymorphism rs7597593 was genotyped in 260 participants (i.e., 130 BD patients and 130 healthy controls). Cognitive impairments were assessed by the Wechsler Adult Intelligence Scale (WAIS) for intelligence quotient (IQ); including verbal, performance, and total IQs.</div></div><div><h3>Results</h3><div>Verbal, performance, and total IQs were significantly lower in BD patients, irrespective of sex (all <em>P</em> &lt; .001). The T allele was significantly more frequent in BD participants regardless of their sex (<em>P</em> &lt; .001). Similarly, the TT genotype of rs7597593 was significantly more prevalent in BD patients in all three models of co-dominant, dominant, and recessive inheritance (all <em>P</em> &lt; .001). When stratified based on sex, the TT genotype was significantly more prevalent in the co-dominant inheritance in both sexes (<em>P</em> &lt; .001), recessive inheritance in male patients (<em>P</em> &lt; .001), and dominant inheritance in female patients (<em>P</em> &lt; .001).</div></div><div><h3>Conclusion</h3><div>Our study showed that the T allele and the TT genotype of rs7597593 of the ZNF804A gene were over-represented in BD cases in the Iranian population. Presumably, the T allele is associated with an increased risk of BD.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102276"},"PeriodicalIF":1.0,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144291295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding the clinical spectrum of NDUFB9 variants: A novel case of LVNC","authors":"Reza Abbaszadeh ,&nbsp;Maryam Arefzadeh ,&nbsp;Fatemeh Abedpour ,&nbsp;Tannaz Masoumi ,&nbsp;Zohreh Hosseinkhani ,&nbsp;Hamidreza Pouraliakbar ,&nbsp;Farnoosh Emami ,&nbsp;Siamak Mirab Samiee ,&nbsp;Nejat Mahdieh","doi":"10.1016/j.genrep.2025.102274","DOIUrl":"10.1016/j.genrep.2025.102274","url":null,"abstract":"<div><h3>Background</h3><div>Left ventricular non-compaction (LVNC) is a rare congenital cardiomyopathy often associated with genetic mutations that disrupt mitochondrial function. Here, we present the first case of LVNC linked to a missense variant in the <em>NDUFB9</em> gene in an Iranian family.</div></div><div><h3>Materials and methods</h3><div>The patient underwent clinical evaluation, including echocardiography, cardiac MRI, and genetic testing. Given the limited number of published cases regarding <em>NDUFB9</em> variants, a comprehensive case report is presented here, integrating relevant literature for comparison.</div></div><div><h3>Results</h3><div>The patient, a 2-month-old infant, presented with classic symptoms of mitochondrial complex I deficiency, such as fatigue during feeding, palpitations, and excessive sweating. LVNC with marked left ventricular trabeculation and enlargement was confirmed. A novel homozygous <em>NDUFB9</em> c.283G&gt;A variant was identified and predicted to impair mitochondrial complex I activity. Four additional studies were found to report <em>NDUFB9</em> variants, with clinical manifestations including mitochondrial encephalopathies, cardiomyopathy, and leukodystrophy.</div></div><div><h3>Conclusion</h3><div>This report links the <em>NDUFB9</em> gene with LVNC, broadening the clinical spectrum of <em>NDUFB9</em>-related disorders. These findings highlight the significant role of mitochondrial dysfunction in the pathogenesis of LVNC and emphasize the need for genetic screening in patients with congenital cardiomyopathies. Further research is required to assess the prevalence and mechanisms of <em>NDUFB9</em> variants across diverse populations.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102274"},"PeriodicalIF":1.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144239404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic inheritance and resistance patterns of cotton leaf curl disease in upland cotton (Gossypium hirsutum L.)","authors":"Ghulam Sarwar ,&nbsp;Zaib-Un-Nisa ,&nbsp;Muhammad Ihsan Ullah ,&nbsp;Muhammad Jamil ,&nbsp;Sadia Hakeem ,&nbsp;Jodi A. Scheffler ,&nbsp;Brian E. Scheffler ,&nbsp;Jehanzeb Farooq","doi":"10.1016/j.genrep.2025.102273","DOIUrl":"10.1016/j.genrep.2025.102273","url":null,"abstract":"<div><div>Cotton Leaf Curl Disease (CLCuD) has been causing substantial yield losses to the cotton crop in South Asia since its first epidemic in the early 1990s. Researchers face several problems while screening and breeding for CLCuD-resistant varieties due to absence of a reliable screening system, controversial inheritance data, limited genetic information about resistance sources, rapid evolution of viral strains, recombination between two virus groups, narrow plant genetic base, poor management practices, and reliance on small segregating populations. These factors have led to the failure of several cotton varieties that were initially released as resistant to Cotton Leaf Curl Virus (CLCuV). Hence, in the present study, a highly CLCuV-susceptible breeding line, Stoneville-47, tagged with a herbicide resistance marker gene (Round-Up-ready cotton), was crossed with newly discovered resistant accessions, Mac-07 and USG13_1087, to gain insights into the genetic inheritance patterns of resistance against CLCuD. Screening of breeding material against CLCuD resulted in thirty-each resistant (S-0), and susceptible plants (S1-S4) upon grafting with susceptible scions. The qPCR further validated the results, as no viral or betasatellite DNA was detected in resistant plants, unlike the susceptible ones. The Chi-square test of F₁ and F₂ generations revealed the presence of a single dominant gene or closely linked QTLs with involvement of certain modifying factors or suppressors, controlling CLCuD resistance. These findings suggest that backcross breeding is a suitable method to introduce disease resistance. The circumvention of the suppressors of resistance from the selected progenies can be achieved by raising larger plant populations. However, there is still a need to fine-map the resistance loci, identify key haplotypes, and validate them across diverse genetic backgrounds. Moreover, pyramiding these clusters maybe a straightforward approach to advancing the development of CLCuD-resistant cotton varieties.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102273"},"PeriodicalIF":1.0,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144253432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Key genes in the Hippo-YAP pathway: Implications for cervical cancer","authors":"Christina Grace Anton Naveen Kumar ,&nbsp;Hepshiba Selvan ,&nbsp;Shakthi Sri Sahithya Kumar ,&nbsp;Thirunavukkarasu Palaniyandi ,&nbsp;Gomathy Baskar ,&nbsp;Hemapreethi Surendran ,&nbsp;Mohd Saeed ,&nbsp;Safia Obaidur Rab","doi":"10.1016/j.genrep.2025.102272","DOIUrl":"10.1016/j.genrep.2025.102272","url":null,"abstract":"<div><div>One of the leading causes of cancer-related deaths globally is cervical cancer, which has many molecular mechanisms associated with its pathophysiology, including the dysfunction of the Hippo-YAP signalling system. The route can affect important biological processes such as cell growth, division, and survival. Risk factors for cervical cancer include long-term use of oral contraceptives, early sexual activity, multiple sexual partners, human papillomavirus infection, and cervical intraepithelial neoplasia. The disease mechanisms are regulated by many genes such as EGFR, MYC, CCND1, and ERBB2. The Hippo signalling pathway phosphorylates YAP/TAZ, thereby inhibiting carcinogenic potential. Dysregulation of the pathway has been linked with poor prognosis, lymph node metastasis, and cervical carcinoma in the early stage through YAP/TAZ activation. Progress in sequencing technologies, such as transcriptomics, single-cell genomic profiling, and multi-omics integration, has also shed light on this pathway for setting the foundation for better treatment. Vaccination against HPVs with high rates and intensive screening programs are critical for reducing cervical cancer incidence and death reduction. This review analyzed cervical cancer pathogenic genes and gene expression profiles by the Hippo-YAP pathway, with a comprehensive discussion of pathophysiology, progression, and drug resistance.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102272"},"PeriodicalIF":1.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144212199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protective and regenerative roles of novel probiotic strains in mitigating cyclophosphamide-induced genotoxicity and organ damage in mice","authors":"Entesar E. Hassan ,&nbsp;Noha E. Ibrahim ,&nbsp;Medhat M. Menshawy ,&nbsp;Ahmed M. Darwish ,&nbsp;Abd-El Nasser A. Khattab ,&nbsp;Ayman A. Farghaly","doi":"10.1016/j.genrep.2025.102271","DOIUrl":"10.1016/j.genrep.2025.102271","url":null,"abstract":"<div><div>This study evaluated the protective effects of two probiotic strains, <em>Lactobacillus fermentum</em> (Pro5) and <em>Lactobacillus casei</em> (Pro3), isolated from silage and Balady butter, against cyclophosphamide (CP)-induced genotoxicity and organ damage a study was conducted using 80 male albino mice of the Swiss strain were categorized into eight groups and administered oral treatments over a period of seven days, including the control group, Pro5 group, pro3 group at a dose of 2 × 10⁹ CFU/mL, Pro5 + Pro3(mix) group at a dose of 2 × 10⁹ CFU/mL, cyclophosphamide (CP) group (20 mg/kg b.w), Pro5+ CP, Pro3+ CP, Mix+CP. Blood and tissue samples were analyzed for chromosomal aberrations, histopathological changes, and gene expression of TNFα, TNFS, and IL-22. Results showed that Pro5 and Pro3 significantly reduced CP-induced chromosomal aberrations in bone marrow and spleen cells, with effects comparable to the control group. Histopathological analysis revealed severe liver damage in the CP group, including hepatocyte degeneration and inflammation, while Pro5, Pro3, and Mix groups exhibited near-normal liver structure with mild inflammation. Similar improvements were observed in kidney and spleen tissues, with probiotics mitigating CP-induced damage. Gene expression analysis indicated that TNFα and TNFs were significantly upregulated in the CP group but downregulated in Pro3, Mix, and Mix+CP groups. IL-22 expression increased significantly in probiotic-treated groups, suggesting enhanced immune regulation. These findings demonstrate the protective and regenerative potential of Pro5 and Pro3 against CP-induced genotoxicity and organ damage, highlighting their ability to modulate inflammatory and immune responses effectively.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102271"},"PeriodicalIF":1.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding shared molecular mechanisms of SARS-CoV-2 and HCoV-OC43 in COVID-19 neurological manifestations: a systems biology approach","authors":"Maryam Mozafar ,&nbsp;Seyed Amir Mirmotalebisohi ,&nbsp;Marzieh Sameni ,&nbsp;Zeinab Dehghan ,&nbsp;Hassan Zohrevand ,&nbsp;Zargham Sepehrizadeh ,&nbsp;Mohammad Ali Faramarzi ,&nbsp;Ahmad Reza Shahverdi ,&nbsp;Hakimeh Zali","doi":"10.1016/j.genrep.2025.102269","DOIUrl":"10.1016/j.genrep.2025.102269","url":null,"abstract":"<div><h3>Background and objectives</h3><div>As the COVID-19 pandemic developed throughout the world, there were an excessive number of reports of SARS-CoV-2's neurological manifestations. This study investigated shared molecular mechanisms between SARS-CoV-2 and HCoV-OC43, considering their similar neuroinvasive effects and partial phylogenetic proximity. We aimed to enhance understanding of COVID-19 neural manifestations through a systems biology approach, decoding crucial genes, biological processes, and pathways to mediate SARS-CoV-2 neurological complications.</div></div><div><h3>Methods</h3><div>We utilized high-throughput omics datasets from the Gene Expression Omnibus (<span><span>GSE174745</span><svg><path></path></svg></span> for SARS-CoV-2 and GSE13879 for HCoV-OC43). We generated protein-protein interaction networks and MCODE clusters in Cytoscape. Significant relationships between the two infections were identified using the Fisher exact test, and the critical shared genes were selected as targets for drug repurposing. Real-time PCR assessed the expression levels of some crucial genes, and DAVID and STRING databases were used for functional enrichment studies.</div></div><div><h3>Results</h3><div>Some shared enriched pathways mediating the COVID-19 pathogenesis included neurodegeneration, mTOR signaling, TNF signaling, complement and coagulation cascades, and Apoptosis. Our study confirmed changes in the expression levels of STAT1, YY1, ATF3, ATF4, and DDIT3 in neuro-COVID patients, with these genes previously implicated in other viral nervous system diseases. Among repurposed drugs with validated efficacy for respiratory complications of COVID-19, Estradiol valerate, Progesterone, Liothyronine, Spironolactone, Indomethacin, Aspirin, and Cyclosporine show potential therapeutic value for managing COVID-19's neurological effects.</div></div><div><h3>Conclusion</h3><div>This validated systems biology study, supported by gene expression analysis, unveils molecular mechanisms and interactions crucial for understanding the neurological aspects of COVID-19. These findings lay the groundwork for future research and potential therapeutic strategies.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102269"},"PeriodicalIF":1.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144263773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling CDKN2B-AS1: The functional long noncoding RNA driving age-related diseases","authors":"Huan Chen ,&nbsp;Qiong Huan ,&nbsp;Zhiguo Wang ,&nbsp;Wenmei Cheng ,&nbsp;Jiaming Zhai ,&nbsp;Guocheng Wu","doi":"10.1016/j.genrep.2025.102247","DOIUrl":"10.1016/j.genrep.2025.102247","url":null,"abstract":"<div><div>Senescence, a gradual decline in physiological functions, is closely linked to aging at both the cellular and organ levels. Emerging research has increasingly highlighted the role of long noncoding RNAs (lncRNAs)—a class of RNAs longer than 200 nucleotides that lack protein-coding potential—in regulating cellular senescence. Among them, cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1), an antisense lncRNA located at the INK4 locus, has gained significant attention. Elevated levels of CDKN2B-AS1 have been observed in various tumor tissues, where its suppression has been shown to inhibit the proliferation, invasion, and migration of cancer cells. Recent studies have further implicated lncRNA CDKN2B-AS1 in age-related diseases (ARDs) including cardiovascular diseases (CVDs), diabetes, cancer, arthritis, and osteoporosis, by functioning as competing endogenous RNA (ceRNA), influencing inflammatory pathways, and regulating glucose metabolism. Deciphering the molecular mechanisms by which CDKN2B-AS1 mediates aging processes can enhance our understanding and provide new avenues for aging and ARD interventions. This review delved into the molecular mechanisms by which CDKN2B-AS1 influences ARD progression, offering insights into novel biomarkers and potential diagnostic tools while summarizing clinical treatment strategies in this context.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102247"},"PeriodicalIF":1.0,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144178488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of sex-specific DNA methylation differences in saliva by multiplex SNaPshot assay","authors":"Priyanka Govender ,&nbsp;Meenu Ghai ,&nbsp;Farzeen Kader ,&nbsp;Moses Okpeku ,&nbsp;Marvellous Zhou","doi":"10.1016/j.genrep.2025.102268","DOIUrl":"10.1016/j.genrep.2025.102268","url":null,"abstract":"<div><div>DNA methylation (DNAm) analysis is emerging as a sensitive method for studying sex-specific differences in humans. Methylation SNaPshot (mSNaPshot) is a robust technique which allows rapid quantification of site-specific DNAm levels and can multiplex several markers in a single reaction. Sex-specific DNAm differences have been observed in blood, placental and brain tissue, but it is not well studied in saliva and African populations. Therefore, this study was undertaken to multiplex three saliva-specific CpG sites in a mSNaPshot assay to analyze sex-specific differences in DNAm patterns of 100 healthy Sub-Saharan Africans. Three saliva-specific CpG sites located in genes, <em>FAM43A</em> (cg09652652-55d), <em>BCA</em>S<em>4</em> (Chr20: 4844305) and <em>FNDC1</em> (cg09107912) were selected for the multiplex assay. These markers were referred to as SAL-1 (<em>FAM43A</em>), SAL-2 (<em>BCAS4</em>) and SAL-3 (<em>FNDC1</em>). SAL-1 and SAL-3 displayed hypermethylation and hypomethylation, respectively in saliva. However, SAL-2 showed an unmethylation signal. Overall, males displayed higher average methylation (50.07 %) than females (42.39 %) for all three markers. Significant sex-specific DNAm differences were observed for SAL-1 and SAL-3 (<em>p</em> &lt; 0.0001). Age did not affect DNAm at the three target sites. Our results indicated that sex-specific DNAm differences exist in body fluids, and SAL-1 and SAL-3 could assist in sex identification of a saliva sample by mSNaPshot assay. DNAm varies in different populations; hence, future studies should target diverse populations from different geographical locations to ascertain the specificity of the findings. We also highlight that sex-specific differential methylation holds great potential for identifying sex-specific biomarkers, improving diagnostics, early disease detection and monitoring, and development of target therapeutics.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102268"},"PeriodicalIF":1.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144178495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NUSAP1 regulates rheumatoid arthritis fibroblast-like synoviocyte phenotypes implicated in joint damage, glycolysis, and a cancer-associated transcriptomic signature","authors":"Teresina Laragione ,&nbsp;Carolyn Harris ,&nbsp;Aurelien Pélessier ,&nbsp;Percio S. Gulko","doi":"10.1016/j.genrep.2025.102270","DOIUrl":"10.1016/j.genrep.2025.102270","url":null,"abstract":"<div><h3>Background</h3><div>The fibroblast-like synoviocyte (FLS) has a central role in rheumatoid arthritis (RA) pathogenesis and its invasive behavior strongly correlates with disease severity and joint damage. Yet, the regulation of FLS invasiveness has been incompletely characterized. The nucleolar and spindle associated protein 1 (NUSAP1) gene has been implicated in cancer cell invasion and outcomes, and we considered that it might also be involved in the regulation of FLS invasiveness.</div></div><div><h3>Methods</h3><div>siRNA was used to knockdown NUSAP1 in RA FLS, compared with a control siRNA. Cells were then studied in invasion, migration, proliferation and adhesion assays, and RNA was used for RNA sequencing and for both pathway and co-expression network analyses.</div></div><div><h3>Results</h3><div>siRNA knockdown of NUSAP1 significantly reduced RA FLS invasiveness (<em>P</em> = 0.002) and migration in the scratch/wound healing assay (<em>P</em> = 0.024). RNA sequencing analyses revealed that NUSAP1 knockdown significantly affected processes implicated in different types of cancer and in cancer biology, including cell cycle, DNA replication, transcription, RHO GTPase signaling, regulation of cytokinesis and cell metabolism pathways, including glycolysis. Among the genes with the most significantly decreased expression in FLS knocked down for NUSAP1 were ARHGAP11A, ANLN, PRC1 and RACGAP1, four genes previously implicated in cancer invasion and migration, and eighteen kinesin family genes, including KIF1c, known to regulate FLS invasion.</div></div><div><h3>Conclusion</h3><div>We describe a new role for NUSAP1 in the regulation of the RA FLS invasiveness, migration, and glycolysis, all relevant to disease pathogenesis and joint damage, and identify a new transcriptomic signature regulated by this gene. These findings raise the possibility that NUSAP1, or one of its target genes and pathways may become a new prognostic marker or target for new therapies for RA.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102270"},"PeriodicalIF":1.0,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of thyroid dysfunctions in the circadian rhythmicity of rat testis","authors":"Marianna Wirthmann Pompeo Flauzino ,&nbsp;Rodrigo Antonio Peliciari-Garcia ,&nbsp;Isabela Carvalho-Guimarães ,&nbsp;Ana Flavia de Melo Kaminski ,&nbsp;Rafaela Paola Eleutério ,&nbsp;Letícia Selvatici-Tolentino ,&nbsp;Erika Lia Brunetto ,&nbsp;Marco Aurelio Romano ,&nbsp;Renata Marino Romano ,&nbsp;Paula Bargi-Souza","doi":"10.1016/j.genrep.2025.102267","DOIUrl":"10.1016/j.genrep.2025.102267","url":null,"abstract":"<div><h3>Background</h3><div>The circadian clock orchestrates the daily rhythmicity of physiological processes in all cells, including the gonadal axis components. Thyroid hormones (THs) regulate both sexes' reproduction homeostasis and steroidogenesis. Thyroid dysfunctions are associated with circadian disruption in a tissue and sex-dependent manner. This study aimed to investigate the effects of thyroid disorders on the rhythmicity of testis circadian clock and its outputs.</div></div><div><h3>Methods</h3><div>Hypothyroidism and hyperthyroidism were induced in adult male rats and testicular gene expression was assessed every 3 h up to 24 h. Thyroid-stimulating hormone (TSH) and triiodothyronine (T₃) serum levels were used to confirm the thyroid states in experimental groups. Rhythmic data were evaluated using One-way ANOVA and 24-h cosine curve data fitting within each group, followed by Two-way ANOVA and pairwise comparisons.</div></div><div><h3>Results</h3><div>The expression of core clock components (<em>Bmal1</em>, <em>Cry1</em>, and <em>Nr1d1</em>), clock-controlled genes (<em>Dbp</em>, <em>Dio3</em>, and <em>Star</em>) and estrogen receptors (<em>Esr1</em> and <em>Esr2</em>) exhibited circadian rhythmicity in control testis<em>.</em> Hypothyroidism disrupted the daily oscillations of <em>Bmal1</em> and <em>Esr2</em>, reduced the mesor of <em>Cry1</em>, <em>Dbp</em>, and <em>Dio3</em>, altered the acrophase of <em>Nr1d1</em>, <em>Cry1</em> and <em>Esr1</em> expression, and induced a circadian oscillation on <em>Star</em> expression in testis. Hyperthyroidism disrupted the circadian rhythmicity of <em>Cry1</em>, <em>Dio3</em> and <em>Esr1</em> mRNA expression, phase-advanced <em>Bmal1</em> expression and reduced the mesor of <em>Bmal1</em> and <em>Esr2</em> mRNA contents.</div></div><div><h3>Conclusion</h3><div>Thyroid dysfunction impairs the rhythmicity of the testicular circadian clock and its outputs, as well as the daily expression of genes related to intracellular signaling of thyroid and sexual hormones, which may contribute to the pathogenesis of male reproductive disorders and the impairment of steroidogenesis and spermatogenesis observed under these thyroid dysfunctions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102267"},"PeriodicalIF":1.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144147718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}