Frontiers in GeneticsPub Date : 2025-03-03eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1471037
Xiwei Cui, Jipeng Song, Qingfeng Li, Jieyi Ren
{"title":"Identification of biomarkers and target drugs for melanoma: a topological and deep learning approach.","authors":"Xiwei Cui, Jipeng Song, Qingfeng Li, Jieyi Ren","doi":"10.3389/fgene.2025.1471037","DOIUrl":"10.3389/fgene.2025.1471037","url":null,"abstract":"<p><strong>Introduction: </strong>Melanoma, a highly aggressive malignancy characterized by rapid metastasis and elevated mortality rates, predominantly originates in cutaneous tissues. While surgical interventions, immunotherapy, and targeted therapies have advanced, the prognosis for advanced-stage melanoma remains dismal. Globally, melanoma incidence continues to rise, with the United States alone reporting over 100,000 new cases and 7,000 deaths annually. Despite the exponential growth of tumor data facilitated by next-generation sequencing (NGS), current analytical approaches predominantly emphasize single-gene analyses, neglecting critical insights into complex gene interaction networks. This study aims to address this gap by systematically exploring immune gene regulatory dynamics in melanoma progression.</p><p><strong>Methods: </strong>We developed a bidirectional, weighted, signed, and directed topological immune gene regulatory network to compare transcriptional landscapes between benign melanocytic nevi and cutaneous melanoma. Advanced network analysis tools were employed to identify structural disparities and functional module shifts. Key driver genes were validated through topological centrality metrics. Additionally, deep learning models were implemented to predict drug-target interactions, leveraging molecular features derived from network analyses.</p><p><strong>Results: </strong>Significant topological divergences emerged between nevi and melanoma networks, with dominant functional modules transitioning from cell cycle regulation in benign lesions to DNA repair and cell migration pathways in malignant tumors. A group of genes, including AURKA, CCNE1, APEX2, and EXOC8, were identified as potential orchestrators of immune microenvironment remodeling during malignant transformation. The deep learning framework successfully predicted 23 clinically actionable drug candidates targeting these molecular drivers.</p><p><strong>Discussion: </strong>The observed module shift from cell cycle to invasion-related pathways provides mechanistic insights into melanoma progression, suggesting early therapeutic targeting of DNA repair machinery might mitigate metastatic potential. The identified hub genes, particularly AURKA and DDX19B, represent novel candidates for immunomodulatory interventions. Our computational drug prediction strategy bridges molecular network analysis with clinical translation, offering a paradigm for precision oncology in melanoma. Future studies should validate these targets in preclinical models and explore network-based biomarkers for early detection.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1471037"},"PeriodicalIF":2.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11911340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648454","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 : 2025-02-28eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1472655
Alycia Noë, Emilie Vaillancourt, Ma'n H Zawati
{"title":"Verbal consent in biomedical research: moving toward a future standard practice?","authors":"Alycia Noë, Emilie Vaillancourt, Ma'n H Zawati","doi":"10.3389/fgene.2025.1472655","DOIUrl":"https://doi.org/10.3389/fgene.2025.1472655","url":null,"abstract":"<p><p>Properly obtaining informed consent is a core obligation for research conducted using human subjects. The traditional informed consent process involves written forms and obtaining signatures. This process remains the standard, but in various research settings, such as COVID-19 and rare disease research, verbal consent has increasingly become the norm. Although verbal consent is used in these settings, its use is still a subject of debate. This article reviews in what medical settings verbal consent is commonly seen today, various advantages and disadvantages of verbal consent, and its legislative and policy ecosystem. In doing so, this review article asserts that it is time for the debate over verbal consent to come to an end and for legislator and policymakers to acknowledge its use and to formalize the process. This will allow verbal consent to be regulated in a similar manner to written consent and will give clinician-researchers guidance on how to better implement verbal consent in their studies to addressing ongoing concerns with the consenting process as a whole.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1472655"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648458","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":"Combined metabolome and transcriptome analysis provides molecular insights into reproductive process in Chuanxiang Black and Landrace pigs.","authors":"Jiangling Li, Jinling Zhang, Sujun Zhao, Qiushi Wang, Rui Liu, Xiaohui Chen, Zhiping He","doi":"10.3389/fgene.2025.1501876","DOIUrl":"https://doi.org/10.3389/fgene.2025.1501876","url":null,"abstract":"<p><p>Testes are crucial for male reproduction, and transcriptomic and metabolomic analyses can help identify genes and pathways linked to reproductive performance differences in pig breeds. The present study was conducted to identify the differentially expressed genes and differentially accumulated metabolites (DAMs) through transcriptomic and metabolomic analyses of testicular tissues in Chuanxiang Black and Landrace pigs. Six testis tissue samples from each pig breed were used for transcriptomic analysis. Further liquid chromatography-mass spectrometry analysis was performed for targeted metabolomic analysis to identify differential metabolites in both breeds. RNA-sequencing data identified a total of 6,233 DEGs, including 3,417 upregulated and 2,816 downregulated genes in Chuanxiang Black compared to Landrace pigs. Comparative pathway enrichment analyses revealed that many DEGs and DAMs were associated with critical reproductive pathways, especially those related to male gametogenesis, spermatogenesis, sexual reproduction, development, and reproductive processes. Three major pathways related to signal transduction (PI3K-Akt, Rap1, and MAPK signaling pathways), lipid metabolism (linoleic acid and arachidonic acid metabolism), and cytokine-cytokine receptor interaction were identified as differentially enriched pathways in Chuanxiang Black pigs. Differential circRNA target gene enrichment analysis revealed 4,179 DEGs, including 3,022 genes involved in biological processes, 477 in cellular components, and 680 in molecular functions. Differential analysis of miRNA between the two groups revealed 2,512 DEGs, including 1,628 upregulated and 884 downregulated genes. Both miRNA and circRNA were involved in enriched KEGG pathways mainly including signaling pathways (cAMP signaling pathways, calcium signaling pathways), endocrine secretion (aldosterone synthesis and secretion and GnRH secretion), and signaling molecules and interaction (ECM-receptor interaction). These findings revealed that both circRNA and miRNA play a crucial role in regulating the differential gene expression related to reproductive processes in Chuanxiang Black compared to Landrace pigs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1501876"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906663/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648390","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 : 2025-02-28eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1528563
Yao Wang, Jing Guo, Peiqi Zhang, Fang Liu, Hua Li
{"title":"Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.","authors":"Yao Wang, Jing Guo, Peiqi Zhang, Fang Liu, Hua Li","doi":"10.3389/fgene.2025.1528563","DOIUrl":"https://doi.org/10.3389/fgene.2025.1528563","url":null,"abstract":"<p><strong>Objectives: </strong>To describe a case of Progressive Encephalopathy with or without Lipodystrophy (PELD), characterized by a late onset of neurological regression at 9 years old, due to a homozygous c.974dupG variant in the BSCL2 gene.</p><p><strong>Methods: </strong>An 11-year, 9-month-old girl with repeated seizures over 2 years underwent clinical assessment and genetic investigation. We also reviewed the published literature.</p><p><strong>Results: </strong>The patient exhibited mild intellectual disability, a lipodystrophic appearance, precocious puberty, voracious appetite, elevated transaminase levels, hyperlipidemia, hypercortisolism, hepatomegaly, fatty liver, and splenomegaly. Motor and cognitive regression occurred at 9 years. A homozygous pathogenic variant c.974dup (p.Ile326HisfsTer12) in exon 7 of BSCL2 (NM_001122955.4) was identified. Despite multiple antiseizure medications, seizures were refractory, leading to status epilepticus and rapid death after genetic diagnosis.</p><p><strong>Conclusion: </strong>We confirm that the BSCL2 c.974dupG variant is a cause of PELD. Regression may occur later than previously reported. Literature review suggests that the c.974dupG variant may present a milder phenotype compared to the classic c.985C>T variant. Early genetic testing and diagnosis are crucial for improving outcomes in rare neurodegenerative disorders like PELD.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1528563"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11907371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648430","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 : 2025-02-28eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1483839
Gang Li, Jiyuan Du, Xiaohu Li, Shilin Zhuge, Shuolin Ren, Min Wu, Haoran Ma, Xinrui Guo, Ziqiang Chen, Haiping Ding
{"title":"<i>bk-5</i> <sup><i>214S2L</i></sup> <i>,</i> an allelic variant of <i>bk-5,</i> as high-quality silage maize genetic resource.","authors":"Gang Li, Jiyuan Du, Xiaohu Li, Shilin Zhuge, Shuolin Ren, Min Wu, Haoran Ma, Xinrui Guo, Ziqiang Chen, Haiping Ding","doi":"10.3389/fgene.2025.1483839","DOIUrl":"https://doi.org/10.3389/fgene.2025.1483839","url":null,"abstract":"<p><strong>Introduction: </strong>Stem brittleness significantly affects both yield and quality of maize.</p><p><strong>Methods: </strong>Using phenotypic identification and sequence analysis, we identified a new brittle stalk maize mutant. Furthermore, we assessed its feeding value by content determination of cellulose, hemicellulose, lignin crude fiber, starch, and protein contents.</p><p><strong>Results: </strong>Here, we identified a brittle stalk maize mutant, <i>bk-5</i> <sup><i>214S2L</i></sup> , an allelic variant of <i>bk-5</i>. The stem brittleness of <i>bk-5</i> <sup><i>214S2L</i></sup> was similar to that of <i>bk-5</i>, but not identical. Unlike <i>bk-5</i>, <i>bk-5</i> <sup><i>214S2L</i></sup> leaves did not fall off completely and its stems did not break in windy conditions. We identified a missense mutation (C>T) in the fifth exon of the candidate gene <i>Zm00001d043477</i>, resulting in an amino acid change from serine to leucine at position 214. A significant reduction in cell wall thickness in the leaf veins and stems of <i>bk-5</i> <sup><i>214S2L</i></sup> compared with the inbred line RP125. Among the major cell wall components in stems and leaves, total cellulose, hemicellulose, and lignin were lower in <i>bk-5</i> <sup><i>214S2L</i></sup> than in RP125. We also evaluated the application value of <i>bk-5</i> <sup><i>214S2L</i></sup> silage and found that the detergent fiber contents of <i>bk-5</i> <sup><i>214S2L</i></sup> stems were significantly reduced compared with RP125, while the crude fiber, starch, and protein contents remained unchanged. The reduced tannin content improved the palatability of the silage for livestock.</p><p><strong>Conclusion: </strong>Overall, <i>bk-5</i> <sup><i>214S2L</i></sup> , an allelic variant of <i>bk-5</i>, is a high-quality genetic resource for breeding forage and grain-feed maize.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1483839"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648404","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":"Case report: Whole exome sequencing identifies a novel variant in the <i>HPRT1</i> gene in a male with developmental delay.","authors":"Haoyang Zheng, Gui Chen, Tingting Wang, Weisheng Cheng, Jing Yuan, Fang Liu, Yuanhong Xu","doi":"10.3389/fgene.2025.1512070","DOIUrl":"https://doi.org/10.3389/fgene.2025.1512070","url":null,"abstract":"<p><p>Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the <i>HPRT1</i> gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT). <i>HPRT1</i> gene variants disrupt normal purine metabolism, leading to the involvement of multiple organ systems, primarily characterized by hyperuricemia, dystonia, and neurological abnormalities, which makes LNS clinically heterogeneous and diagnostically challenging. Here, we report a rare case of a 27-year-old Chinese male exhibiting severe lower limb motor disorders, hyperuricemia, and intellectual development delay. Blood tests showed hyperuricemia and whole exome sequencing (WES) identified a novel hemizygous variant in the <i>HPRT1</i> (NM-000194.3) gene: c.104T > C in exon 2, respectively. Bioinformatics techniques indicated that the variant may disrupt the activity of HGPRT. According to the clinical presentation, diagnostic examination, and WES results, the patient was finally diagnosed with LNS. This study identified a previously unreported pathogenic variant in the <i>HPRT1</i> gene. Although no curative therapy is currently available for <i>HPRT1</i> gene variants at present, a definite diagnosis of its genetic etiology is of great significance for genetic counseling and family planning.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1512070"},"PeriodicalIF":2.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11906436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648368","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 : 2025-02-27eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1534461
Alexa M Barber, Nicole B Kingsley, Sichong Peng, Elena Giulotto, Rebecca R Bellone, Carrie J Finno, Ted Kalbfleisch, Jessica L Petersen
{"title":"Annotation of cis-regulatory-associated histone modifications in the genomes of two Thoroughbred stallions.","authors":"Alexa M Barber, Nicole B Kingsley, Sichong Peng, Elena Giulotto, Rebecca R Bellone, Carrie J Finno, Ted Kalbfleisch, Jessica L Petersen","doi":"10.3389/fgene.2025.1534461","DOIUrl":"10.3389/fgene.2025.1534461","url":null,"abstract":"<p><p>The Functional Annotation of Animal Genomes (FAANG) consortium aims to annotate animal genomes across species, and work in the horse has substantially contributed to that goal. As part of this initiative, chromatin immunoprecipitation with sequencing (ChIP-seq) was performed to identify histone modifications corresponding to enhancers (H3K4me1), promoters (H3K4me3), activators (H3K27ac), and repressors (H3K27me3) in eight tissues from two Thoroughbred stallions: adipose, parietal cortex, heart, lamina, liver, lung, skeletal muscle, and testis. The average genome coverage of peaks identified by MACS2 for H3K4me1, H3K4me3, and H3K27ac was 6.2%, 2.2%, and 4.1%, respectively. Peaks were called for H3K27me3, a broad mark, using both MACS2 and SICERpy, with MACS2 identifying a greater average number of peaks (158K; 10.4% genome coverage) than SICERpy (32K; 24.3% genome coverage). Tissue-unique peaks were identified with BEDTools, and 1%-47% of peaks were unique to a tissue for a given histone modification. However, correlations among usable reads, total peak number, and unique peak number ranged from 0.01 to 0.92, indicating additional data collection is necessary to parse technical from true biological differences. These publicly available data expand a growing resource available for identifying regulatory regions within the equine genome, and they serve as a reference for genome regulation across healthy tissues of the adult Thoroughbred stallion.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1534461"},"PeriodicalIF":2.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624298","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":"A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in <i>RILPL1</i>.","authors":"Wenjing Wang, Tielun Yin, Xinyu Zhang, Zhaoxia Wang, Tianyun Wang, Shuo Zhang, Yingshuang Zhang, Dongsheng Fan","doi":"10.3389/fgene.2025.1472907","DOIUrl":"10.3389/fgene.2025.1472907","url":null,"abstract":"<p><strong>Background: </strong>Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions in the noncoding region of <i>LRP12</i>. Similar expansions in <i>GIPC1, NOTCH2NLC, and RILPL1</i> were later linked to OPDM, classifying the disease into OPDM1-4. OPDM4, associated with <i>RILPL1</i>, was discovered in 2022 with a few confirmed cases worldwide, leaving its clinical features and pathogenic mechanisms largely unexplored.</p><p><strong>Case presentation: </strong>We present a patient with OPDM4 who had suffered progressive ptosis, external ophthalmoplegia, pharyngeal weakness, facial muscle weakness, and distal limb weakness over the past 20 years. Electromyography (EMG) revealed myogenic damage and normal H-reflex latency. A biopsy of the left biceps brachii revealed myogenic changes with atypical rimmed vacuoles in some muscle fibers. Screening for extra-muscular system involvement revealed no obvious involvement of the heart or central nervous system. Genetic analysis confirmed 126 CGG repeat expansions in <i>RILPL1</i> and excluded abnormal CGG repeat expansions in <i>LRP12, GIPC1, and NOTCH2NLC</i>.</p><p><strong>Conclusion: </strong>This case broadens the spectrum of CGG repeat numbers in the <i>RILPL1</i> gene associated with OPDM4. In addition, systematic medical examinations revealed several new characteristics of OPDM4, which have not been reported previously, such as normal H reflex, potential mild cognitive impairment, etc. These findings expand our knowledge of the phenotypic spectrum of diseases caused by repeat CGG expansions in <i>RILPL1</i>.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1472907"},"PeriodicalIF":2.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11903759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624294","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":"Comparative genomics of three non-hematophagous leeches (<i>Whitmania</i> spp.) with emphasis on antithrombotic biomolecules.","authors":"Fang Zhao, Zuhao Huang, Lizhou Tang, Wenting Zhang, Zichao Liu, Gonghua Lin","doi":"10.3389/fgene.2025.1548006","DOIUrl":"10.3389/fgene.2025.1548006","url":null,"abstract":"<p><p>Leeches are well known for blood-feeding habits and are widely used for medicinal purposes as they secrete various antithrombotic substances. However, some leeches exhibit non-hematophagous habits and their significance for medicinal use is controversial. Here we provide the chromosome-level genomes of two non-hematophagous leeches, <i>Whitmania acranulata</i> and <i>Whitmania laevis</i>, and, in combination with previous results from <i>Whitmania pigra</i>, we compared these genomes with an emphasis on antithrombotic biomolecules. All three species had the same chromosome number of 11. The genome size, repeat site percentage, and number of protein-coding genes of <i>W. laevis</i> (173.87 Mb, 28.28%, 23,818) were similar to those of <i>W. pigra</i> (169.37 Mb, 27.02%, 24,156), whereas these values of <i>W. acranulata</i> (181.72 Mb, 29.55%, 27,069) were higher than those of the other two leeches. <i>W. laevis</i> was a monophyletic clade of <i>W. pigra</i>, whereas <i>W. acranulata</i> had a paraphyletic relationship with <i>W. pigra</i>. The number of antithrombotic genes in <i>W. laevis</i> (<i>N</i> = 76) was similar to that of <i>W. pigra</i> (<i>N</i> = 79), whereas <i>W. acranulata</i> (<i>N</i> = 102) had apparently more such genes. Of the 21 gene families, 9 and 11 were differentially expressed in <i>W. acranulata</i> and <i>W. laevis</i> compared to <i>W. pigra</i>, respectively. The expression profiles of the antithrombotic gene families were more similar between <i>W. acranulata</i> and <i>W. laevis</i>. Although there were several cases of gene loss or pseudogenization, most antithrombotic genes of the three <i>Whitmania</i> species were intact and transcribable. These results provide valuable insights into the evolution of non-hematophagous leeches and development of antithrombotic drugs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1548006"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614634","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 : 2025-02-26eCollection Date: 2025-01-01DOI: 10.3389/fgene.2025.1572987
James H Lan, Robert Liwski, Alberto Cardoso Martins Lima, Sandra Tafulo
{"title":"Editorial: Novel applications of epitope biology to improve outcomes in transplantation.","authors":"James H Lan, Robert Liwski, Alberto Cardoso Martins Lima, Sandra Tafulo","doi":"10.3389/fgene.2025.1572987","DOIUrl":"10.3389/fgene.2025.1572987","url":null,"abstract":"","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1572987"},"PeriodicalIF":2.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11897513/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143614635","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}