Frontiers in Genetics最新文献

{"title":"Charting the immune terrain: a novel risk model for thyroid cancer prognosis.","authors":"Qi Qi, Xiaoyan Cai, Qiang Lv","doi":"10.3389/fgene.2026.1752017","DOIUrl":"https://doi.org/10.3389/fgene.2026.1752017","url":null,"abstract":"<p><strong>Objectives: </strong>To construct a prognostic risk model for thyroid cancer based on immune genes and analyze the correlation between immune genes and immune infiltration.</p><p><strong>Methods: </strong>A retrospective study was conducted on 180 patients with thyroid cancer treated in our hospital during May 2022 to April 2025. Based on the prognosis, the subjects were graded as good prognosis group of 126 cases and poor prognosis group of 54 cases. The influencing factors were analyzed by a binary logistic regression model, receiver operating characteristic curve and goodness of fit test. Single sample gene set enrichment analysis was used to perform immune infiltration analysis on the expression matrix of peripheral blood mononuclear cells. The GSEA algorithm was used to calculate the abundance of tumor associated immune cell infiltration. Pearson correlation analysis was used to investigate the correlation. The TCGA-THCA database was used to analyze the differential expression of genes, as well as the correlation with clinical pathological features.</p><p><strong>Results: </strong>The expression levels of CDK1, B3GNT7, S100A9, and MMP9 genes were higher in the poor prognosis group than the good prognosis group (<i>P</i> < 0.05). A prognostic prediction model was constructed according to formula [1/1 + exp (4.125 + 1.250 × CDK1 + 1.880 × B3GNT7 + 0.920 × S100A9 + 1.050 × MMP9)]. The average C-index of the model was 0.919 (95% CI: 0.882-0.961). The AUC of the prognosis prediction model was 0.880. The poor prognosis group had much lower infiltration abundance of B lymphocytes, CD4⁺T lymphocytes, and CD8⁺T lymphocytes, and higher infiltration abundance of neutrophils and macrophages than the good prognosis group (<i>P</i> < 0.05). CDK1, B3GNT7, S100A9, and MMP9 were negatively correlated with the infiltration abundance of B lymphocytes, CD4⁺T lymphocytes, and CD8⁺T lymphocytes, and positively correlated with the infiltration abundance of neutrophils and macrophages (<i>P</i> < 0.05). Further analysis from the TCGA-THCA database showed that the high expression of S100A9 and MMP9 was correlated with advanced lymph node metastasis (pN stage), distant metastasis (pM stage) and overall TNM stage (<i>P < 0.05</i>).</p><p><strong>Conclusion: </strong>CDK1, B3GNT7, S100A9, and MMP9 were independent risk factors for poor prognosis in thyroid cancer. The prognostic prediction model may provide objective evidence for early screening of high-risk cases in clinical practice.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1752017"},"PeriodicalIF":2.8,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13148796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837112","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":"Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection.","authors":"Emelie Foord, Darius Sairafi, Monika Berg, Sofia Westerling, Toheeb Adigun, Mehmet Uzunel, Thessalia Papasavva, Michael Uhlin","doi":"10.3389/fgene.2026.1810737","DOIUrl":"https://doi.org/10.3389/fgene.2026.1810737","url":null,"abstract":"<p><p>Thalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive genetic heterogeneity and complex genotype-phenotype relationships. Conventional workflows typically combine hematologic and biochemical analyses with targeted DNA-based testing. However, traditional molecular approaches are often sequential and labor-intensive, with limited capacity to detect the full spectrum of pathogenic variation. Advances in next-generation sequencing (NGS) now enables integrated and comprehensive strategies to support hemoglobinopathy diagnostics and screening follow-up. Currently available NGS-based platforms allow simultaneous detection of diverse variant classes, including sequence variants and copy number alterations, across multiple disease-relevant genes, including genetic modifiers that may influence disease severity. This review summarizes the genetic basis of thalassemia and sickle cell disease and compiles traditional and emerging molecular testing methodologies. It further discusses the strengths, limitations and utility of NGS-based platforms, and considers their role in shaping future screening and diagnostic workflows for hemoglobinopathies.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1810737"},"PeriodicalIF":2.8,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13148797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837136","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":"Prevalence of GSTM1 and GSTT1 null polymorphisms in an admixed healthy Venezuelan population: implications for pharmacogenetic baselines.","authors":"Mercedes Fernández-Mestre, Eva Salazar-Alcalá, Juan Bautista De Sanctis, Dolores Moreno, Jenny Valentina Garmendia, Oriana Regalado-Gutiérrez, María Johanna Peña","doi":"10.3389/fgene.2026.1792974","DOIUrl":"https://doi.org/10.3389/fgene.2026.1792974","url":null,"abstract":"<p><strong>Introduction: </strong>The Glutathione S-Transferase (GST) family consists of enzymes with widely studied genetic polymorphisms. Current documentation of GST variant distribution across Venezuelan regions is fragmented. This study aims to determine the prevalence of GSTM1 and GSTT1 null genotypes in a healthy urban Venezuelan group and to compare these frequencies with regional and global reference data.</p><p><strong>Methods: </strong>A cross-sectional descriptive study was conducted on 300 healthy unrelated individuals. Genotyping was performed via multiplex PCR, and frequencies were calculated based on the presence or absence of specific amplicons.</p><p><strong>Results: </strong>The frequencies of the GSTM1 and GSTT1 null genotypes were 38.67% and 32.67%, respectively. The \"double null\" genotype was observed in 6.00% of the sample, representing a relevant ethnogeographic heterogeneity.</p><p><strong>Discussion: </strong>Comparative analysis revealed a divergence from reported data for ancestral Amerindian groups and an allelic distribution pattern reflecting a tri-hybrid genetic architecture intermediate between West African and Southern European references. These findings establish an updated genetic baseline for this urban cohort, highlighting a distinct genotypic distribution within the Venezuelan population. This study underscores the degree of population stratification in the region and provides a descriptive framework for future toxicogenomic research and personalized medicine applications.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1792974"},"PeriodicalIF":2.8,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13148882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837197","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 role of pluripotency regulators in triple-negative breast cancer immune response.","authors":"Carolina López-Santana, Fabio Mendez-Rivera, David A Bernal-Estévez","doi":"10.3389/fgene.2026.1771872","DOIUrl":"https://doi.org/10.3389/fgene.2026.1771872","url":null,"abstract":"<p><p>Triple-negative breast cancer (TNBC) is defined by the absence of estrogen, progesterone, and HER2 receptor expression. A critical challenge in managing TNBC is its high concentration of cancer stem cells (CSCs), which drives chemotherapy resistance and correlates with poor patient survival. In normal physiology, stem cell pluripotency and differentiation are governed by core transcription factors (such as Oct4, Sox2, Nanog, Klf4, and c-Myc) alongside key signaling networks, including the Notch, Wnt/β-catenin, and Sonic Hedgehog (Shh) pathways. During carcinogenesis, aberrant activation of these regulators in TNBC not only promotes the self-renewal of tumor cells but also actively facilitates immune evasion. Specifically, overexpressed pluripotency transcription factors enable cancer cells to downregulate antigen presentation molecules (e.g., MHC class I) and secrete immunomodulatory cytokines. Concurrently, dysregulated signaling, such as the Wnt/β-catenin pathway, inhibits dendritic cell maturation and recruits Myeloid-Derived Suppressor Cells (MDSCs) and regulatory T cells (Tregs) into the tumor microenvironment, thereby blunting the anti-tumor T cell response. This review examines the role of key pluripotency regulators in TNBC-mediated immune evasion, highlighting emerging immunotherapeutic strategies targeting these networks and summarizing current clinical research.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1771872"},"PeriodicalIF":2.8,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13148799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837177","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":"Nanopore-m⁶A-finder, a novel m⁶A site caller for Nanopore DRS data.","authors":"Yuening Yang, Liqun Yu, Li Mo, Changhai Qi, Wei Song, Hua Jin","doi":"10.3389/fgene.2026.1770769","DOIUrl":"https://doi.org/10.3389/fgene.2026.1770769","url":null,"abstract":"<p><strong>Introduction: </strong><i>N</i> ⁶-methyladenosine (m⁶A) is a pivotal RNA modification involved in diverse biological and pathological processes. Compared to the m⁶A detection methods based on second-generation sequencing, Nanopore direct RNA sequencing (DRS) offers the unique advantage of capturing native modifications.</p><p><strong>Methods: </strong>Here, we present Nanopore-m⁶A-Finder (NP-mFinder), a reference-free m⁶A prediction computational framework that employs the XGBoost model in the mRNA exonic region and a hard-voting ensemble of XGBoost and random forest models in the poly(A) region.</p><p><strong>Results and discussion: </strong>NP-mFinder can determine m⁶A sites as well as estimate their methylation levels from Guppy basecalled DRS data. After training with DRS data of in <i>vitro</i>-transcribed RNA, NP-mFinder achieved high performance on held-out test datasets (area under the curve (AUC) ≈0.90; accuracy, precision, recall, and F1-score >0.80). Comparing with canonical m6A detection methods, it recovered 20% of meRIP-seq-defined m6A sites in yeast, and 27% of our HEK293 site prediction overlapped with miCLIP calls. Although single-base overlap with existing DRS-based tools of EpiNano and mAFiA was limited, 73% of our identified m⁶A-containing genes were validated by at least one of them. Benchmarking our method with GLORI v2.0 revealed concordance of 28% at a site level and 85% at a gene level, as well as a mild correlation on m⁶A level estimations. Notably, NP-mFinder achieved 93% precision in detecting m⁶A within the \"AAAAA\" sequence context in the mRNA exonic region of HEK293T DRS data when compared to high-confidence m⁶A site annotation in GLORI v2.0, demonstrating the good performance of our method in the region possessing a stretch of continuous A-sequences. Moreover, our method predicted that m6A might exist in the human HEK293 poly(A) region, suggesting a possibly conserved phenomenon of a modified poly(A) tail beyond the previously reported T. brucei variant surface glycoprotein (VSG) transcripts. Together, these results established NP-mFinder as a robust and versatile tool for transcriptome-wide m6A profiling with DRS data at single-read resolution.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1770769"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837169","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":"Genomic basis of adaptation to cardiac glycosides in three insect orders.","authors":"Kangli Zhu, Chengqi Zhu, Ying Zhen","doi":"10.3389/fgene.2026.1808090","DOIUrl":"https://doi.org/10.3389/fgene.2026.1808090","url":null,"abstract":"<p><p>Insects across different orders have convergently evolved adaptations to toxic cardiac glycosides (CGs), which are derived either from their diet or via endogenous synthesis. Previous studies on CG-resistance focused on changes in ATPα that is the direct inhibition target of CGs. Adaptation of whole organisms to toxic CGs could involve orchestrated changes at multiple genes and at multiple biological levels. Here, we explore this possibility by using whole genome sequences to identify several signatures of molecular convergence across multiple CG-adapted species. We identify gene families that changed convergently in CG-adapted species, including one member of stable fatty acyl-CoA reductase, CG5065, carboxylesterases and gustatory receptors that expanded in two of the three species. We find a number of candidate genes under positive selection in all CG-adapted species. We also identify convergent amino acid substitutions that have independently evolved in CG-adapted insects, including a conserved gene involved in the septate junction, Gliotactin (<i>Gli</i>). We used CRISPR-Cas9 to generate viable, homozygous <i>Gli</i> knock-in <i>Drosophila</i> lines with the convergent substitution. Through egg-larva and larva-adult survival experiments, we found that mutant flies consistently exhibit a lower survival rate compared to wild-type lines. Transmission electron microscopy (TEM) analysis of stage 17 embryos showed that in Gli mutants, the dihedral angles of bicellular membranes near the tricellular junction (TCJ) were unequal, and electron-dense materials were absent in the TCJ center. We propose that this convergently evolved <i>Gli</i> variant may contribute to CG adaptation by modulating epithelial permeability, potentially facilitating the sequestration of toxic CGs.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1808090"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837078","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":"Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype.","authors":"Junxiang Tang, Yanhong Cao, Daoqi Huang, Chaohong Wang, Xiaohua Jiang, Jiansheng Zhu","doi":"10.3389/fgene.2026.1761836","DOIUrl":"https://doi.org/10.3389/fgene.2026.1761836","url":null,"abstract":"<p><p>Floating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the <i>SRCAP</i> gene. It is characterized by distinctive facial features, delayed bone age, short stature, and moderate intellectual disability. While digital anomalies have been reported in approximately half of the more than 100 known cases, the phenotypic spectrum continues to expand. Here, we describe a family in which two individuals were identified with FLHS. Both the proband and her mother presented with typical manifestations, including classic facial dysmorphism, short stature, intellectual disability, brachydactyly, and clinodactyly. Moreover, the proband exhibited a novel combination of polydactyly and syndactyly affecting the right fifth and sixth toes, a feature previously unreported in FLHS. Additionally, she had complications including anemia, feeding difficulties, recurrent infections, epilepsy, and thrombosis. Whole-exome sequencing identified a heterozygous <i>SRCAP</i> c.7330C>T (p.Arg2444Ter) mutation in both affected individuals. The proband also harbored compound heterozygous mutations in <i>MMACHC</i> (c.609G>A/p.Trp203Ter and c.565C>T/p.Arg189Cys), potentially explaining some extra-skeletal symptoms. In summary, this study describes the first case of FLHS concurrently presenting with both polydactyly and syndactyly. Our work broadens the known phenotypic range of this rare syndrome.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1761836"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143227/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837179","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":"Integrated metabolomics and bioactivity analysis of <i>Cynoglossum lanceolatum</i> root extract as a natural inducer of resistance to rice bacterial blight.","authors":"Aadil Mansoori, Madan Mohan, Subha Narayan Das, Rakesh Kumar, Anirudh Kumar","doi":"10.3389/fgene.2026.1775858","DOIUrl":"https://doi.org/10.3389/fgene.2026.1775858","url":null,"abstract":"<p><strong>Background: </strong>Synthetic pesticides are widely used in agriculture to manage pests and reduce yield loss. Phytochemicals with antioxidant and antibacterial activities have great potential for treating plant diseases and reducing the use of synthetic chemicals. Identifying compounds from various plant species is crucial for their potential agricultural applications.</p><p><strong>Methods: </strong>In the present study, <i>Cynoglossum lanceolatum</i> was screened for potential antioxidant, antimicrobial, and bacterial blight protection abilities. Methanol and aqueous extracts of <i>C. Lanceolatum</i> root was tested for their polyphenol content, antioxidant potential, metabolomics and antimicrobial study.</p><p><strong>Results: </strong>Results revealed that methanol extract exhibited higher phytochemical content and antioxidant activity. FTIR examination of extracts identified functional groups such as OH, C-H, C=C, and C-N, indicating the presence of distinct metabolites. The GC-MS investigation indicated the existence of 59 metabolites, several of which had previously been described as antimicrobial agents. Furthermore, <i>in vitro</i> antibacterial studies confirmed the antimicrobial effect of methanol extract against <i>Xanthomonas oryzae</i> pv. <i>oryzae</i> (<i>Xoo</i>). Moreover, prediction of antimicrobial metabolites, particularly 7-hydroxy-4-methylcoumarin-3-acetic acid, was confirmed through molecular docking study with D-alanine-D-alanine ligase A (DdlA) and the peptide deformylase (PDF) protein of <i>Xoo.</i> Finally, the study evaluated the effectiveness of <i>C. lanceolatu</i>m root extract against bacterial blight disease, finding a significant reduction in <i>Xoo</i> lesions in pre-treatment and also showing their efficacy in post-treatment. Effect of extract was also observed in the photosynthetic status of rice by measuring chlorophyll A fluorescence.</p><p><strong>Conclusion: </strong><i>C. lanceolatum</i> is a promising plant for its versatile role as an antioxidant, antimicrobial, and bacterial blight disease protection in rice.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1775858"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837093","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 prognostic model for ovarian cancer: construction, validation, and therapeutic insights.","authors":"Tingting Yu, Mingyang Gao, Yuexin Yu, Bolun Wang","doi":"10.3389/fgene.2026.1603788","DOIUrl":"https://doi.org/10.3389/fgene.2026.1603788","url":null,"abstract":"<p><strong>Background: </strong>Ovarian cancer (OV) is the most lethal gynaecological malignancy worldwide. Palmitoylation, a reversible post-translational lipid modification, has been implicated in tumourigenesis, growth, metastasis and apoptosis across multiple cancers. However, its impact on immune infiltration, therapeutic response and clinical outcomes in ovarian cancer remains insufficiently explored.</p><p><strong>Methods: </strong>We obtained transcriptome data and clinical information pertaining to ovarian cancer from the Cancer Genome Atlas (TCGA), Genotype-Tissue Expression (GTEx), and Gene Expression Omnibus (GEO) databases. A prognostic model based on palmitoylation-related genes was constructed using univariate Cox and Lasso-Cox regression for feature selection. The predictive performance of the model was assessed via Kaplan-Meier (KM) survival analysis and receiver operating characteristic (ROC) curve evaluation.</p><p><strong>Results: </strong>We developed a five-gene prognostic prediction model utilizing palmitoylation-related genes derived from TCGA samples of epithelial ovarian cancer patients. The validity of this model was confirmed using patient samples from both TCGA and GEO datasets. KM analysis demonstrated that our prognostic model effectively distinguished between high-risk and low-risk groups, correlating with poorer or more favorable outcomes respectively. According to ROC curve analysis, our model exhibited superior predictive accuracy compared to traditional clinical factors alone. Additionally, analyses regarding immune cell infiltration, expression levels of immune checkpoints, as well as drug sensitivity further support potential treatment strategies for ovarian cancer.</p><p><strong>Conclusion: </strong>The prognostic model developed in this study has the potential to enhance our understanding of the role of palmitic acid-related genes in ovarian cancer, providing new insights into prognosis prediction and treatment strategies for patients with ovarian cancer.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1603788"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143230/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837142","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":"Framework for assessing genetic variation in livestock using demographic, pedigree, and genomic measures.","authors":"Gábor Mészáros, Ino Curik, Dominique Ouedraogo, Jack Windig, Gregoire Leroy, Yuri Tani Utsunomiya, Pamela Burger, Licia Colli, Chang Xu, Paul Boettcher, Christian Looft, Johann Soelkner","doi":"10.3389/fgene.2026.1792347","DOIUrl":"https://doi.org/10.3389/fgene.2026.1792347","url":null,"abstract":"<p><p>Genetic variation within livestock populations underpins global food security, resilience, and the long-term sustainability of breeding programs. Despite its fundamental role, harmonized approaches for assessing and monitoring genetic variation across data sources remain limited. This review provides an integrated framework for assessing genetic variation in livestock using demographic, pedigree, and genomic data, developed by FAO experts and international collaborators. Demographic indicators offer essential insight into population size, sex ratio, and reproductive structure, while pedigree data allow detailed evaluation of genetic relatedness, inbreeding, and effective population size (<i>N</i> _<i>e</i> ) over time. Genomic information now provides unprecedented accuracy in characterizing allelic variation, population structure with admixture, and the dynamics of inbreeding and drift. Each data source differs in availability, resolution, and interpretive limits; therefore, complementary use of demographic, pedigree, and genomic measures is recommended for effective monitoring and decision-making. This framework outlines the main properties, applications, and constraints of these approaches and provides guidance on selecting appropriate indicators for monitoring genetic variation within and among livestock populations. Its implementation supports the objectives of the Global Plan of Action for Animal Genetic Resources and the Kunming-Montreal Global Biodiversity Framework, contributing to evidence-based management of livestock diversity worldwide.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"17 ","pages":"1792347"},"PeriodicalIF":2.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13143417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147837147","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}