Frontiers in Genetics最新文献

{"title":"Editorial: Enhancing livestock breeding through advanced genetic tools and phenotyping systems.","authors":"Yulin Bai","doi":"10.3389/fgene.2025.1617113","DOIUrl":"https://doi.org/10.3389/fgene.2025.1617113","url":null,"abstract":"","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1617113"},"PeriodicalIF":2.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173719","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":"An ethical framework for human genomic enhancement in China.","authors":"Fanhong Chen, Hongjiao Zhang","doi":"10.3389/fgene.2025.1600829","DOIUrl":"10.3389/fgene.2025.1600829","url":null,"abstract":"<p><p>Human genomic enhancement, or HGE, which improves human traits by introducing genetic and epigenetic changes, has garnered a lot of attention in light of the astounding advancement in genome editing techniques, such as CRISPR-Cas9, in recent years. This study combines doctrinal and empirical analysis methods to examine bioethical issues of HGE in China. The literature currently in publication on these issues indicates that the majority of Chinese academics and the general public are enthusiastic about the present and potential future applications of genome editing techniques within the parameters of appropriate ethical guidelines; regrettably, no workable ethical governance framework has been put forth so far. Considering this, this study offers a more comprehensive discussion of ethical policy on HGE and develops a robust ethical framework that addresses three related issues about HGE: (1) approaching the precautionary principle as an overarching benchmark; (2) producing a multi-stakeholder collaborative governance model to promote stakeholder engagement and dialogue; and (3) establishing regional ethics review centers to have an independent review process. This is done in an effort to address ethical concerns and further inform policymaking on HGE in China.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1600829"},"PeriodicalIF":2.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173714","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":"Genome-wide analysis of genetic loci and candidate genes related to teat number traits in Dongliao black pigs.","authors":"Juan Ke, Changyi Chen, Junwen Fei, Ke Luo, Yu Cheng, Huimin Yu, Chao Cheng, Yiqing Yan, Xiaoran Zhang, Shuang Liang, Hao Sun, Chunyan Bai, Boxing Sun","doi":"10.3389/fgene.2025.1593395","DOIUrl":"10.3389/fgene.2025.1593395","url":null,"abstract":"<p><p>This study investigated the genetic basis of teat number variation in Dongliao black pigs. A total of 765 pigs were genotyped using the Porcine 50K SNP chip, and their teat numbers were recorded. Heritability estimates for total teat number (TTN) and teat pair number (TPN) were 0.091 and 0.097, respectively. Genome-wide association studies identified 74 significant SNPs for TTN and 105 for TPN. Nine candidate genes related to the teat number were identified: <i>CSNK1G1, PLEKHM2, CABLES1, SLC25A21, RYR3, PIGH, GUCY1A1, RAPGEF2,</i> and <i>TRPC4AP</i>. These findings provide insights into the genetic architecture of teat number variation in Dongliao black pigs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1593395"},"PeriodicalIF":2.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144173723","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":"EnrichKit: a multi-omics tool for livestock research.","authors":"Lihe Liu, Francisco Peñagaricano","doi":"10.3389/fgene.2025.1573374","DOIUrl":"10.3389/fgene.2025.1573374","url":null,"abstract":"<p><p>The increasing applications of omics technologies in livestock research highlights the need for tools capable of interpreting preliminary signals, such as mapping genomic coordinates to gene features and annotating gene lists for functional characterization. These tools should effectively leverage various biological databases for comprehensive analysis. Additionally, the development of user-friendly interfaces is essential to broaden the accessibility and enable a wider range of users to contribute more effectively to the field of livestock genomics. EnrichKit provides friendly graphical user interface and superior efficiency in data management and computational analysis by integrating various public databases and statistical algorithms. Its functionalities are showcased through applications in DNA methylation analysis, gene co-expression network analysis, and differential gene expression analysis. The comparative analysis with existing tools underscores EnrichKit advantages in terms of species-specific gene-set libraries and user accessibility. EnrichKit significantly advances the interpretation of omics studies in livestock genomics. Its tailored approach for species-specific analysis, combined with a comprehensive computational framework, positions it as a valuable tool for researchers. The potential of EnrichKit to transform livestock genomics research is evident, opening avenues for future enhancements and broader applications in the livestock omics research field.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1573374"},"PeriodicalIF":2.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144158206","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 novel loss-of-function <i>SYCP2</i> variant causes asthenoteratozoospermia in infertile males.","authors":"Cong Liu, Yinfeng Zhang, Youming Zhao, Haining Luo","doi":"10.3389/fgene.2025.1595720","DOIUrl":"10.3389/fgene.2025.1595720","url":null,"abstract":"<p><strong>Background: </strong>Infertility is a multiplex disorder in the reproductive system. Unexplained infertility affects 2%-3% of reproductive-aged couples. Male factors contribute to about half of all infertility cases. About 15% of these cases are predicted to have a genetic etiology. With the wide application of whole exome sequencing (WES), more and more variations in male infertility have been identified.</p><p><strong>Methods: </strong>A patient diagnosed with asthenoteratozoospermia was involved in this study. WES was performed in the patient, and Sanger sequencing was used to confirm the variation. Mini-gene splicing assays were performed to validate the effect on the alternative splicing of the variation.</p><p><strong>Results: </strong>A novel heterozygous splice variant was identified in SYCP2 (c.2600+ 5G>C) in the patient ,which inherited from his phenotypically normal mother. SYCP2 encodes a protein critical for the synapsis of homologous chromosomes during meiosis I, and its disruption can impair spermatogenesis. Mini-gene splicing assays confirmed that this splicing variant impacted alternative splicing and that the stop codon appeared early, which was very likely to result in the loss of function of the protein and lead to the occurrence of male infertility.</p><p><strong>Conclusion: </strong>Our results suggested that the c.2600+5G>C variation in SYCP2 might be the genetic etiology for male infertility in this pedigree. This finding expanded the known genotype spectrum of male infertility and provided new etiological information for male infertility.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1595720"},"PeriodicalIF":2.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144158230","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":"The genetic technologies questionnaire in the Greek-speaking population: the moral judgement of the lay public.","authors":"Florian Melchior, Ioanna Antigoni Angelidou, Maria Chorianopoulou, Birgit Teichmann","doi":"10.3389/fgene.2025.1594724","DOIUrl":"10.3389/fgene.2025.1594724","url":null,"abstract":"<p><strong>Introduction: </strong>Advancements in life sciences have significantly boosted biomedical capabilities. Genetic testing forecasts hereditary traits and disease susceptibility, while CRISPR/Cas allows permanent genome alterations. However, ethical considerations arise regarding the morality of these capabilities, particularly concerning the moral status, autonomy, and privacy of living beings. The lack of valid instruments to assess moral judgment in genetic technologies highlights the need for this study, aiming to translate and validate the \"Genetic Technologies Questionnaire\" (GTQ) and the short version of the \"Conventional Technologies Questionnaire\" (CTQ5) into Greek. As the full version of the GTQ with 30 questions could be too extensive for some studies, we also tested other versions: The short versions GTQ20-GR and GTQ5-GR which were already presented in the original study, as well as a version which included questions solely about humans (GTQ-H-GR) and is intended for use in human research and therapy, and the GTQ-Moral Status (GTQ-MS-GR), which included questions about genetic testing and gene editing in different living beings to investigate differences in moral status.</p><p><strong>Methods: </strong>A cross-sectional study involved 250 participants who completed an online questionnaire, assessing internal consistency, structural validity, known-groups validity, floor/ceiling effects, and retest reliability (subset of 50 participants). Correlational analyses explored relationships with education, age, genetic knowledge, religiosity, and genetic testing experience. The study followed the STROBE checklist for reporting.</p><p><strong>Results: </strong>The GTQ-GR (Cronbach's α = 0.929) and GTQ20-GR (α = 0.935) exhibit high reliability and stability in assessing moral judgment among lay people, whereas the GTQ5-GR (α = 0.866) and CTQ5-GR (α = 0.758) displayed some weaknesses. Participants tended to rate conventional technologies more favorably than genetic technologies, with genetic testing perceived more positively than genome editing. The two additional derived versions, GTQ-H-GR (α = 0.859) and GTQ-MS-GR (α = 0.787), also demonstrated solid psychometric characteristics.</p><p><strong>Conclusion: </strong>The GTQ-GR is a valid and reliable questionnaire with strong psychometric properties and is now available in Greek.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1594724"},"PeriodicalIF":2.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157810","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":"Ethical issues in the use of genetic predictions of aggressive behavior in the criminal justice system: a systematic review.","authors":"Pietro Refolo, Stefano Ferracuti, Simone Grassi, Costanza Raimondi, Giulia Mercuri, Massimo Zedda, Giovanni Aulino, Antonio Gioacchino Spagnolo, Antonio Oliva","doi":"10.3389/fgene.2025.1599750","DOIUrl":"10.3389/fgene.2025.1599750","url":null,"abstract":"<p><strong>Background: </strong>The use of genetic predictions of aggressive behavior in the criminal justice system remains a subject of ongoing debate. Since behavioral genetic evidence is often used in criminal defense arguments, it is crucial to critically examine the ethical challenges associated with its application.</p><p><strong>Objective: </strong>This article seeks to identify and analyze these ethical concerns to ensure the responsible and equitable integration of genetic testing, when deemed necessary, into the judiciary system.</p><p><strong>Methods: </strong>A systematic review was conducted using PubMed, Web of Science, and Scopus, supplemented by manual searches of reference lists to identify additional relevant studies.</p><p><strong>Results: </strong>The search yielded 1,023 publications, 12 of which met the inclusion criteria. Seven key ethical concerns were identified: the risks of discrimination, stigmatization, eugenic reasoning, deterministic interpretations, overestimation of dangerousness, privacy violations, and medicalization, along with the risks posed by limited scientific literacy among legal professionals.</p><p><strong>Conclusion: </strong>The ethical challenges associated with genetic predictions of aggressive behavior underscore the need for a critical and multidisciplinary approach to their use in the criminal justice system. Collaboration among bioethicists, legal scholars, scientists, and communication experts is crucial to prevent misuse and reduce potential biases. Such an approach will help ensure that genetic insights are ethically applied, accurately interpreted, and used to promote justice rather than exacerbate systemic inequalities.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1599750"},"PeriodicalIF":2.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144158208","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":"Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.","authors":"Xuejun Ouyang, Dazhi Chi, Yu Zhang, Tian Yu, Qian Zhang, Lei Xu, Victor Wei Zhang, Bin Wang","doi":"10.3389/fgene.2025.1620297","DOIUrl":"https://doi.org/10.3389/fgene.2025.1620297","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.3389/fgene.2025.1592212.].</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1620297"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104673/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150289","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":"Identification of a novel missense variant in the <i>LMX1B</i> gene associated with nail-patella syndrome in a Chinese family.","authors":"Qian Sun, Yaqiong Ren, Yue Cao, Wen Zheng, Guanghao Su, Xiaodong Wang, Hongying Wang","doi":"10.3389/fgene.2025.1574076","DOIUrl":"10.3389/fgene.2025.1574076","url":null,"abstract":"<p><strong>Background: </strong>Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by the variants of the <i>LMX1B</i> gene, affecting several systems, including musculoskeletal, renal, and ocular systems. Despite the well-established genetic basis, the complicated relationship between genotype and phenotype still remains unclear. This study aimed to identify the genetic cause of NPS in a Chinese family and elucidate its potential contribution to the disease's phenotypic spectrum.</p><p><strong>Methods: </strong>Clinical data and peripheral blood samples were collected from the affected family. Whole-exome sequencing (WES) was conducted to identify potential pathogenic variants, followed by Sanger sequencing to validate the candidate variant. Bioinformatic tools were employed to predict the 3D structure alterations and pathogenicity of the variant. Wild-type and mutant <i>LMX1B</i> overexpression plasmids were constructed to investigate the functional consequences of the variant. Western blotting and immunofluorescence were conducted to measure the expression and localization of the protein.</p><p><strong>Results: </strong>The proband presented with clinical manifestations, including nail malformation, patella dysplasia, restricted elbow movement, and pes planus. Both his mother and sister exhibited symptoms related to the skeletal system. WES identified a novel c.812G>C (p.R271T) variant in the affected family members. Bioinformatic analyses revealed structural modification in the protein and predicted functional impairment. Western blotting showed no significant difference in the expression level between wild-type and mutant protein. However, immunofluorescence demonstrated distinct changes in the subcellular localization of c.812G>C mutant.</p><p><strong>Conclusion: </strong>NPS is a rare multisystem disorder with variable clinical presentations. In this family, the skeletal system was mainly involved with variations among different members. Our study identified a novel c.812G > c variant in the <i>LMX1B</i> gene, changing the nuclear localization of the protein.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1574076"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150291","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":"Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.","authors":"Danhua Guo, Nani Zhou, Qianqian He, Na Lin, Shuqiong He, Deqin He, Yifang Dai, Ying Li, Xuemei Chen, Hailong Huang, Jia Jia, Hua Cao, Liangpu Xu","doi":"10.3389/fgene.2025.1527228","DOIUrl":"10.3389/fgene.2025.1527228","url":null,"abstract":"<p><strong>Background: </strong>This pilot study aimed to characterize the regional distribution of genetic variants associated with autosomal recessive and X-linked recessive (AR/XLR) conditions in Fujian Province, Southeast China, to inform the development of targeted carrier screening programs.</p><p><strong>Methods: </strong>An expanded carrier screening (ECS) panel utilizing next-generation sequencing (NGS) technology was designed to analyze 332 genes associated with 343 AR/XLR conditions. The panel was applied to 440 samples obtained from individuals in Fujian Province. Single nucleotide variants and copy number variations (CNVs) were identified and analyzed using a multidimensional approach that incorporated demographic characteristics, carrier frequencies, and the genetic burden of AR/XLR diseases.</p><p><strong>Results: </strong>A total of 511 variants were detected among the 440 participants, including 43 CNVs (8.41%), affecting 133 genes associated with 123 conditions. The mean number of pathogenic or likely pathogenic variants per sample was 1.16. The highest genetic burden was observed in couples seeking medically assisted reproduction (MAR group), who had histories of fetal loss, second- or third-trimester abnormalities, or postnatal abnormalities. In clinical settings, the percentage of at-risk couples (ARCs) was 6.36% (n = 14), involving seven conditions, with no statistically significant difference in ARC incidence between couples undergoing genetic screening (GS group) and the MAR group. The cumulative carrier rate for 28 genes was ≥1/100. Recurrent variants in <i>GAA</i>, <i>GALT</i>, <i>CYP1B1</i>, and <i>MEFV</i> were identified, exhibiting distinct regional patterns compared to previously reported variants in the Han Chinese population.</p><p><strong>Conclusion: </strong>NGS-based ECS demonstrates significant potential for assessing the genetic burden of AR/XLR conditions and identifying ARCs in Fujian Province. However, before integrating ECS into regional public health initiatives, the development of a region-specific, curated disease panel is necessary to optimize screening efficacy and clinical utility.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1527228"},"PeriodicalIF":2.8,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12104066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150304","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}