Frontiers in GeneticsPub Date : 2025-01-23eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1558506
{"title":"Erratum: Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis.","authors":"","doi":"10.3389/fgene.2025.1558506","DOIUrl":"https://doi.org/10.3389/fgene.2025.1558506","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/fgene.2024.1502152.].</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1558506"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11798987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-23eCollection Date: 2024-01-01DOI: 10.3389/fgene.2024.1526473
Andre C Araujo, Jay S Johnson, Jason R Graham, Jeremy Howard, Yijian Huang, Hinayah R Oliveira, Luiz F Brito
{"title":"Transgenerational epigenetic heritability for growth, body composition, and reproductive traits in Landrace pigs.","authors":"Andre C Araujo, Jay S Johnson, Jason R Graham, Jeremy Howard, Yijian Huang, Hinayah R Oliveira, Luiz F Brito","doi":"10.3389/fgene.2024.1526473","DOIUrl":"10.3389/fgene.2024.1526473","url":null,"abstract":"<p><p>Epigenetics is an important source of variation in complex traits that is not due to changes in DNA sequences, and is dependent on the environment the individuals are exposed to. Therefore, we aimed to estimate transgenerational epigenetic heritability, percentage of resetting epigenetic marks, genetic parameters, and predicting breeding values using genetic and epigenetic models for growth, body composition, and reproductive traits in Landrace pigs using routinely recorded datasets. Birth and weaning weight, backfat thickness, total number of piglets born, and number of piglets born alive (BW, WW, BF, TNB, and NBA, respectively) were investigated. Models including epigenetic effects had a similar or better fit than solely genetic models. Including genomic information in epigenetic models resulted in large changes in the variance component estimates. Transgenerational epigenetic heritability estimates ranged between 0.042 (NBA) to 0.336 (BF). The reset coefficient estimates for epigenetic marks were between 80% and 90%. Heritability estimates for the direct additive and maternal genetic effects ranged between 0.040 (BW) to 0.502 (BF) and 0.034 (BF) to 0.134 (BW), respectively. Repeatability of the reproductive traits ranged between 0.098 (NBA) to 0.148 (TNB). Prediction accuracies, bias, and dispersion of breeding values ranged between 0.199 (BW) to 0.443 (BF), -0.080 (WW) to 0.034 (NBA), and -0.134 (WW) to 0.131 (TNB), respectively, with no substantial differences between genetic and epigenetic models. Transgenerational epigenetic heritability estimates are moderate for growth and body composition and low for reproductive traits in North American Landrace pigs. Fitting epigenetic effects in genetic models did not impact the prediction of breeding values.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1526473"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-23eCollection Date: 2024-01-01DOI: 10.3389/fgene.2024.1523406
Ernesto Schwartz-Marin, Tayyaba Jiwani, Sarah Abel, Yulia Egorova, Amade M'charek, Diogo Meyer, Andrés Moreno Estrada, Katharina Schramm, Peter Wade, Michel Naslavsky
{"title":"Genetic ancestry and the colonial legacies of race in genomics: a cross-disciplinary dialogue.","authors":"Ernesto Schwartz-Marin, Tayyaba Jiwani, Sarah Abel, Yulia Egorova, Amade M'charek, Diogo Meyer, Andrés Moreno Estrada, Katharina Schramm, Peter Wade, Michel Naslavsky","doi":"10.3389/fgene.2024.1523406","DOIUrl":"10.3389/fgene.2024.1523406","url":null,"abstract":"<p><p>As genomics initiatives have spread around the world-often in the name of genetic diversity and inclusion-they have not only invoked promises of a medical revolution, but also revived categories of human difference that resemble erstwhile racial classifications. This is despite the fact that geneticists broadly dismissed racial categories as obsolete and unfounded after the Human Genome Project was completed in 2003. In fact, contemporary genomics initiatives have often ended up reinforcing ethnocentric and nativist conceptions of difference, drawing intense criticism from activists and critical social scientists. This roundtable brings leading population geneticists grappling with the question of genetic identity and ancestry, especially in the global South, together with some of the most prominent scholars of race in genomics. The result is an engaging and insightful dialogue on questions that have vexed the field for decades. How do we-indeed \"can\" we reconcile the boundaries of biological and social difference? How do notions of \"genetic ancestry\" and \"biogeographical ancestry differ from erstwhile racial and ethnic categories? Can racial categories ever be shorn of their colonial and oppressive legacies? Here we scrutinise the methodological and epistemological frameworks in contemporary genomics that work to define populations and shape our understanding of biology, society, health, and disease. We seek to clarify perspectives across the disciplinary divide, and to advance constructive and grounded critiques that contend with the question of justice in genomics.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1523406"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11799264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"In silico design of an epitope-based vaccine ensemble for fasliolopsiasis.","authors":"Ruchishree Konhar, Kanhu Charan Das, Aiboklang Nongrum, Rohan Raj Samal, Shailesh Kumar Sarangi, Devendra Kumar Biswal","doi":"10.3389/fgene.2024.1451853","DOIUrl":"10.3389/fgene.2024.1451853","url":null,"abstract":"<p><strong>Introduction: </strong>Fasciolopsiasis, a food-borne intestinal disease is most common in Asia and the Indian subcontinent. Pigs are the reservoir host, and fasciolopsiasis is most widespread in locations where pigs are reared and aquatic plants are widely consumed. Human infection has been most commonly documented in China, Bangladesh, Southeast Asia, and parts of India. It predominates in school-age children, and significant worm burdens are not uncommon. The causal organism is <i>Fasciolopsis buski</i>, a giant intestinal fluke that infects humans and causes diarrhoea, fever, ascites, and intestinal blockage. The increasing prevalence of medication resistance and the necessity for an effective vaccination make controlling these diseases challenging.</p><p><strong>Methods: </strong>Over the last decade, we have achieved major advances in our understanding of intestinal fluke biology by in-depth interrogation and analysis of evolving <i>F. buski</i> omics datasets. The creation of large omics datasets for <i>F. buski</i> by our group has accelerated the discovery of key molecules involved in intestinal fluke biology, toxicity, and virulence that can be targeted for vaccine development. Finding successful vaccination antigen combinations from these huge number of genes/proteins in the available omics datasets is the key in combating these neglected tropical diseases. In the present study, we developed an <i>in silico</i> workflow to select antigens for composing a chimeric vaccine, which could be a significant technique for developing a fasciolopsiasis vaccine that prevents the parasite from causing serious harm.</p><p><strong>Results and discussion: </strong>This chimeric vaccine can now be tested experimentally and compared to other vaccine candidates to determine its potential influence on human health. Although the results are encouraging, additional validation is needed both <i>in vivo</i> and <i>in vitro</i>. Considering the extensive genetic data available for intestinal flukes that has expanded with technological advancements, we may need to reassess our methods and suggest a more sophisticated technique in the future for identifying vaccine molecules.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1451853"},"PeriodicalIF":2.8,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11794225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"DEmiRNA-mRNA regulatory network reveals miR-122-5p as a regulatory factor of arginine metabolism in necrotizing enterocolitis.","authors":"Zhili Ding, Ting Guo, Qiang Tang, Yaqiang Hong, Zhibao Lv, Li Lu, Wenjun Zhuang","doi":"10.3389/fgene.2024.1480431","DOIUrl":"10.3389/fgene.2024.1480431","url":null,"abstract":"<p><strong>Objective: </strong>Necrotizing enterocolitis (NEC) is a gastrointestinal emergency with relatively high morbidity and mortality in neonates. The role of microRNAs (miRNAs) in NEC is not yet entirely clear. This study aimed to explore the mechanism of miR-122-5p in NEC.</p><p><strong>Methods: </strong>Differentially expressed (DE) miRNAs were sequenced in control and NEC mice. The DEmiRNA-mRNA regulatory network was constructed and the bioinformatics analysis was performed to identify the target mRNAs and potential roles of the DEmiRNAs. The miR-122-5p activation was explored <i>in vitro</i> in the human intestinal epithelial cell (FHs74Int) and rat intestinal epithelial cell (IEC-6). <i>In vivo</i>, mice were transinfected with miR-122-5p inhibitor before the NEC occurred. Mass spectrometry was used to qualify the concentrations of amino acids, and the viability of intestinal stem cell (ISC) was accessed to verify the biological function.</p><p><strong>Results: </strong>Preliminarily, 15 miRNAs were found to be differentially expressed between NEC group and control group. Subsequent bioinformatics analysis revealed that miR-122-5p significantly contributes to the arginine metabolism in NEC through the DEmiRNA-mRNA regulatory network, with PRODH2 and ALDH18A1 being identified as its target genes. <i>In vitro</i>, miR-122-5p mimic inhibited the expression of PRODH2 and ALDH18A1 in the FHs74Int cells and IEC-6 cells<i>. In vivo</i>, inhibition of miR-122-5p led to increased expression of PRODH2 and ALDH18A1, along with elevated arginine levels. Following transfection with a miR-122-5p inhibiting adenovirus, the survival rate of NEC mice improved, and intestinal injury was alleviated.</p><p><strong>Conclusion: </strong>MiR-122-5p inhibition could impact arginine metabolism by targeting PRODH2 and ALDH18A1, thereby mitigating intestinal injury in NEC.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1480431"},"PeriodicalIF":2.8,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11794208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-21eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1553186
Ranran Zhang, Yu Tan, Li Wang, Hui Jian, Jing Zhu, Yuanyuan Xiao, Mengyu Tan, Jiaming Xue, Fan Yang, Weibo Liang
{"title":"Corrigendum: Set of 15 SNP-SNP markers for detection of unbalanced degraded DNA mixtures and noninvasive prenatal paternity testing.","authors":"Ranran Zhang, Yu Tan, Li Wang, Hui Jian, Jing Zhu, Yuanyuan Xiao, Mengyu Tan, Jiaming Xue, Fan Yang, Weibo Liang","doi":"10.3389/fgene.2025.1553186","DOIUrl":"https://doi.org/10.3389/fgene.2025.1553186","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/fgene.2021.800598.].</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1553186"},"PeriodicalIF":2.8,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11791405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-21eCollection Date: 2024-01-01DOI: 10.3389/fgene.2024.1496411
Huafang Zou, Qian Zhang, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao
{"title":"Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.","authors":"Huafang Zou, Qian Zhang, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao","doi":"10.3389/fgene.2024.1496411","DOIUrl":"10.3389/fgene.2024.1496411","url":null,"abstract":"<p><strong>Objective: </strong>Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.</p><p><strong>Methods: </strong>Exome-based epilepsy panel tests, clinical exome sequencing (CES), and whole exome sequencing (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) and copy number variants (CNVs) were interpreted based on each patient's phenotypic presentation. Additionally, data concerning clinical symptoms, neuroimaging findings, treatment responses, and prognostic outcomes were collected and analyzed.</p><p><strong>Results: </strong>The overall diagnostic yield was 32.8% (85/259), with a diagnostic yield of 40.0% for exome-based epilepsy panels, 30.1% for CES, and 27.8% for WES. We identified 82 cases with pathogenic or likely pathogenic SNVs and 4 cases with pathogenic CNVs, of which one case with both SNV and CNV. The most frequently detected gene was PRRT2, present in 10.0% (9/82) of cases. Epileptic syndromes were diagnosed in 66 patients, predominantly West Syndrome, Dravet Syndrome and Genetic Epilepsy with Febrile Seizures plus.</p><p><strong>Conclusion: </strong>NGS is an effective method for uncovering the genetic foundations of pediatric epilepsy, with diagnostic yields varying based on the sequencing approach used. The growing preference for WES underscores its utility in complex cases, pointing to a trend towards more tailored diagnostic strategies.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1496411"},"PeriodicalIF":2.8,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11790612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-20eCollection Date: 2024-01-01DOI: 10.3389/fgene.2024.1521412
Miaomiao Xin, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu
{"title":"Mutation in the <i>COL2A1</i> gene is associated with acetabular dysplasia.","authors":"Miaomiao Xin, Xin Guan, Jiangfei Yang, Yi Li, Zhentao Man, Hongsheng Sun, Min Fu","doi":"10.3389/fgene.2024.1521412","DOIUrl":"10.3389/fgene.2024.1521412","url":null,"abstract":"<p><strong>Background: </strong>Developmental dysplasia of the hip (DDH) is one of the most common developmental disorders worldwide, caused by a combination of genetic and environmental factors.</p><p><strong>Methods: </strong>To investigate the genetic etiology of DDH in a proband (a 27-year-old male), we reviewed the patient's clinical data and collected peripheral blood samples from the proband and his parents. Genomic DNA was extracted, and polymerase chain reaction (PCR) amplification was performed. Clinical whole-exome sequencing (WES) using next-generation sequencing (NGS) was conducted to identify potential mutation sites, which were then validated through Sanger sequencing. Bioinformatics analysis was performed to assess the pathogenicity of the identified variant, and 3D protein modeling was conducted to predict its impact on protein structure.</p><p><strong>Results: </strong>The proband presented with pain in bilateral hips, and based on clinical symptoms, laboratory findings and imaging studies, the final diagnosis was considered to be acetabular dysplasia with overlapping secondary synovial chondromatosis. Family history revealed similar symptoms in the proband's father, while the grandparents and other family members were unaffected. The patient underwent bilateral total hip arthroplasty and synovectomy. NGS and Sanger sequencing identified a heterozygous missense mutation in the <i>COL2A1</i> gene (ex13, c.823C > T; p.Arg275Cys) in both the proband and his father, while this mutation was absent in the mother. Bioinformatic analysis indicated that the c.823C > T (p.Arg275Cys) variant is pathogenic, and structural modeling demonstrated that the substitution of arginine with cysteine at residue 275 altered the protein structure.</p><p><strong>Conclusion: </strong>Our findings highlight the diagnostic utility of NGS in identifying precise genetic causes of DDH. The identification of the <i>COL2A1</i> gene mutation in this present case represents a novel clinical phenotype, expanding the spectrum of disorders associated with <i>COL2A1</i> mutations.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1521412"},"PeriodicalIF":2.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frontiers in GeneticsPub Date : 2025-01-20eCollection Date: 2024-01-01DOI: 10.3389/fgene.2024.1502287
Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán
{"title":"Tell me y: anticipation of sex discrepancies in cell-free DNA testing due to maternal genetic abnormalities: a case report.","authors":"Nuria Balaguer, Emilia Mateu-Brull, Jose Antonio Martínez-Conejero, Ana Cervero, Roser Navarro, Jorge Jiménez-Almazán, Miguel Milán","doi":"10.3389/fgene.2024.1502287","DOIUrl":"10.3389/fgene.2024.1502287","url":null,"abstract":"<p><p>Sex discordance between cell-free DNA (cfDNA) testing and ultrasound examination is rare but can cause significant patient discomfort and uncertainty. Here, we present two clinical cases where a closer examination of raw sequencing data allowed us to anticipate possible discrepancies caused by the insertion of Y-chromosome regions into the maternal genome. We used Illumina's VeriSeq NIPT Solution v2 and a proprietary bioinformatics pipeline to analyze cfDNA in the maternal bloodstream. Paired-end sequencing data were aligned to the reference genome (<i>hg19</i>). Non-duplicated aligned reads were aggregated into 100-kb bins, adjusted for CG bias, and further aggregated into 5-Mb windows. Z-scores were calculated for autosomes, sex chromosomes, and 5-Mb bins. The two clinical cases were classified as low-risk male fetuses according to the primary statistics (case A: NCV<sub>x</sub> = 0.3; NCV<sub>y</sub> = 40.6; native fetal fraction (FF<sub>i</sub>) = 5.1%, and case B: NCV<sub>x</sub> = -0.3, NCV<sub>y</sub> = 40.7, FF<sub>i</sub> = 10.8%); however, the Y-chromosome-based FF (FF<sub>y</sub>) was significantly lower than the default FF estimate (FF<sub>y</sub> ≅ 2% in both cases). Plots of X and Y chromosome Z-scores for each 5-Mb bin, according to genomic position, identified bins with Z-scores significantly higher than those expected for any pregnancy with a male fetus. The genomic coordinates of these bins overlapped with the amelogenin (<i>AMELY</i>) and protein kinase Y-linked (<i>PRKY</i>) genes, respectively. Amplification of these regions in the DNA isolated from the white blood cells fraction confirmed the presence of Y-chromosome insertions in the maternal genome. This study highlights a new source of discrepancy in cfDNA testing due to maternal genomic variations. These findings suggest the need for improvements to current bioinformatics pipelines to identify and exclude possible maternal perturbations from the classification algorithms used for aneuploidy and sex calls.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1502287"},"PeriodicalIF":2.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comprehensive analysis of the circRNA expression profile and circRNA-miRNA-mRNA network in pelvic organ prolapse.","authors":"Qian Wang, Zuoxi He, Lisha Ding, Yuqing Liu, Xiaoli Zhang, Tao Wang, Xiaoyu Niu","doi":"10.3389/fgene.2024.1527223","DOIUrl":"10.3389/fgene.2024.1527223","url":null,"abstract":"<p><p>Pelvic organ prolapse (POP) is a common gynecological disease caused by pathological defects, lesions, or mechanical weakening of the support structures of the pelvic floor. However, its pathogenesis is unclear. Circular RNAs (circRNAs) are covalently closed, endogenous biomolecules, which are thought to play an important role on skeletal muscle development by regulating gene expression. In this study, five pairs of peripheral blood samples from control and POP groups were used for circRNA sequencing analysis to obtain differential expression profiles. A total of 75 differentially expressed circRNAs (DEcircRNAs) were identified (fold change >2.0, P < 0.05). Furthermore, RT-qPCR confirmed that the expression levels of two circRNAs (hsa_circ_0067962 and hsa_circ_0057051) were significantly lower in the POP group. The two validated DEcircRNAs were abundantly involved in the collagen catabolic process. The circRNA-miRNA-mRNA network of two DEcircRNAs comprised nine mRNAs, which indicated that hsa_circ_0067962 and hsa_circ_0057051 may be involved in the pathogenesis of POP by regulating these nine mRNAs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"15 ","pages":"1527223"},"PeriodicalIF":2.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11788335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}