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        <title>Frontiers in Genetics | New and Recent Articles</title>
        <link>https://www.frontiersin.org/journals/genetics</link>
        <description>RSS Feed for Frontiers in Genetics | New and Recent Articles</description>
        <language>en-us</language>
        <generator>Frontiers Feed Generator,version:1</generator>
        <pubDate>2026-04-25T14:37:47.552+00:00</pubDate>
        <ttl>60</ttl>
        <item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1779551</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1779551</link>
        <title><![CDATA[Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysis]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Yutong Li</author><author>Yuezhi Keqie</author><author>Cuiting Peng</author><author>Han Chen</author><author>Jun Ren</author><author>Hong Yang</author><author>Zhushu Liu</author><author>Wei Fan</author><author>Shan Luo</author><author>Xuemei Zhang</author><author>Ting Hu</author><author>Shanling Liu</author><author>Xinlian Chen</author><author>Fan Zhou</author>
        <description><![CDATA[Chromosomal inversion is one of the common types of chromosomal structural rearrangements. For couples with chromosomal inversions, the appropriate recommendations for preimplantation genetic testing (PGT) remain a subject of ongoing debate. This study retrospectively included couples who underwent PGT between January 2019 and December 2024. All included couples were classified into subgroups based on karyotyping analysis: PGT-INV (chromosomal inversion), PGT-PV (chromosomal polymorphic variation), PGT-A (normal karyotype), and PGT-SR (other balanced chromosomal rearrangements). The euploid rate of biopsied blastocysts did not differ significantly among the PGT-INV, PGT-PV, and PGT-A groups (P > 0.05); however, a statistically significant difference was observed between the PGT-SR group and each of the other three groups (P < 0.001). The aneuploidy rate in couples with female inversion was significantly higher than that in couples with male inversion (P = 0.046). Meanwhile, the proportion of aneuploid blastocysts associated with rearrangement was significantly higher in pericentric (38.94%) compared to paracentric inversions (23.60%) (P = 0.022). With the inverted fragment size increased, the proportion of aneuploid blastocysts associated with rearranged chromosomes increased accordingly and exhibited a linear trend (P < 0.05). In conclusion, the overall euploid rate of blastocysts in couples with chromosomal inversion showed no statistically significant difference compared to those with normal karyotype and chromosomal polymorphic variation; however, the carrier gender and the size of the inverted fragment are influencing factors for the abnormality rate associated with homologous rearranged chromosomes. Genetic counseling is strongly recommended for couples carrying chromosomal inversions.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1800699</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1800699</link>
        <title><![CDATA[Development and research trends of stay-green biology in legumes: a bibliometric and visual analysis over three decades]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Systematic Review</category>
        <author>Shubh Pravat Singh Yadav</author><author>Upama Adhikari</author><author>James R. Myers</author><author>Lyle T. Wallace</author>
        <description><![CDATA[BackgroundThe stay-green trait, which manifests as a delayed leaf senescence in plants, is increasingly viewed as a valuable target for improving crop resilience, quality and yield stability. While most of the progress in this area has been made in cereals, research in legumes remains less consolidated, despite their importance for nutrition and sustainable agriculture.MethodsBibliometric and structured literature reviews were combined to examine the evolution, thematic structure, and research frontiers of stay-green research in legumes over the past 3 decades. Using the Web of Science Core Collection and Dimensions database, 157 relevant articles published between 1993 and 2025 were identified following PRISMA guidelines and analyzed using VOSviewer and the Bibliometrix R framework to assess publication trends, collaboration networks, thematic evolution, and to classify reported stay-green phenotypes into functional and non-functional categories.ResultsThe results show a steady rise in publications with a growth rate of 8.6% per year, involving 883 authors across 96 journals, and a strong pattern of international collaboration. Most publications were original research articles, with only 11 review articles, indicating a lack of integrative work in this field. Foundational work by Thomas and colleagues remains highly influential, while recent studies increasingly emphasize molecular genetics and functional analyses in soybean, common bean, pea, and other grain legumes. The keyword analysis highlighted five main research hotspots: drought tolerance, molecular regulation of senescence, photosynthesis related mechanisms, trait mapping and genomics, and pathological stay-green syndromes. Research emphasis has shifted from descriptive physiology toward molecular breeding applications, with increasing focus on distinguishing functional from non-functional stay-green.ConclusionThis is the first comprehensive study to apply bibliometric approaches to analyze the trends and research frontiers of stay-green traits in legumes, offering valuable insights and reference points for advancing future research and breeding applications.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1795752</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1795752</link>
        <title><![CDATA[Leveraging Hamiltonian neural flow for robust single-cell multi-omics integration: application to Alzheimer’s disease]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Ziheng Huang</author><author>Wei Kong</author><author>Shuaiqun Wang</author>
        <description><![CDATA[Alzheimer’s disease (AD) progression involves complex molecular interactions across multiple biological layers, yet integrating high-dimensional single-cell multi-omics data remains computationally challenging. While Graph Convolutional Networks (GCNs) effectively model cell-gene interaction topologies, they face three critical limitations: over-smoothing in deep architectures, instability under data perturbations, and lack of mechanistic interpretability—obstacles that impede clinical translation. The Hamiltonian Graph Convolutional Network (HGCN), a physics-inspired framework integrating symplectic dynamics with graph-based learning, is proposed in this study, which incorporates energy-conserving Hamiltonian mechanics to address these limitations through: (1) geometric constraints that prevent over-smoothing, (2) stable gradient propagation via symplectic integration, and (3) interpretable phase space representations of cellular states. To validate the effectiveness of the HGCN model, it was evaluated on three single-cell multi-omics datasets: an AD prefrontal cortex dataset, and peripheral blood benchmarks. Meanwhile, differential analysis emerged as the most effective feature extraction strategy in the evaluated experimental setting through systematic preprocessing comparisons. On the AD composite classification task requiring simultaneous prediction of cell type and disease state, HGCN achieved 92.28% accuracy and 0.9228 F1-score, significantly outperforming baseline GCN (88.59% accuracy, 0.8860 F1-score). Phase space visualization revealed biologically meaningful patterns: Inhibitory neurons exhibited heterogeneous subtype structures, while disease states showed symmetric geometric organization suggesting cell-type-invariant pathological mechanisms. Robustness experiments on citation networks demonstrated superior resilience to both feature and structural perturbations compared to standard GCN, with performance advantages increasing under higher perturbation intensities. These results establish HGCN as a robust, interpretable framework for multi-omics integration in complex disease analysis, with potential applications in precision medicine.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1803717</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1803717</link>
        <title><![CDATA[Clinical variant interpretation comparing two saturation genome editing-based functional studies for BRCA2]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Ju Hyeon Shin</author><author>Kyung Sun Park</author><author>Young-gon Kim</author><author>Mi-Ae Jang</author><author>Ja-Hyun Jang</author><author>Jong-Won Kim</author>
        <description><![CDATA[BackgroundTwo saturation genome editing (SGE) studies for BRCA2 using haploid human HAP1 cells and mouse embryonic stem cells, respectively, demonstrated contradictory functional results in 16.9% (1,052/6,208) of the variants. We performed clinical variant interpretation and tried to address the discordance by comparing two studies combined with 24 years of clinicopathological data collected at a single institution.MethodsRetrospectively, we collected data from patients with BRCA2 variants evaluated in the SGE studies. The variants were reassessed according to the ClinGen BRCA1/2 guidelines and/or multifactorial likelihood analysis. For variants with concordant SGE functional results, either PS3 or BS3 was assigned. Major error rates were compared for variants with discordant results.ResultsAmong the 88 variants from 526 patients, 13, including three potentially hypomorphic variants, showed discordant results. Major error rates were lower for HAP1-SGE dataset, but without statistical significance. Among the 75 variants with concordant results, 28 and 47 were assigned PS3 and BS3, respectively. Consequently, 93.1% (27/29) of the variants of uncertain significance were reclassified as likely pathogenic (n = 3) or likely benign (n = 24).ConclusionConcordant SGE results are clinically useful for variant reclassification. When discordant results are present, functional evidence should not be assigned, but HAP1-SGE dataset is suggested to be more consistent with patient-specific data. Further segregation analysis and long-term follow-up are needed to resolve discordant cases.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1697926</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1697926</link>
        <title><![CDATA[Causal effects of maternal BMI on pregnancy outcomes: a Mendelian randomisation study investigating the mediating role of blood counts]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Christopher Flatley</author><author>Geng Wang</author><author>Alesha Hatton</author><author>Kym-Mai Nguyen</author><author>Liang-Dar Hwang</author><author>Nicole M. Warrington</author>
        <description><![CDATA[BackgroundPregnancy requires a delicate balance between the maternal immune system and inflammatory responses. Elevated maternal body mass index (BMI) significantly compromises the immune system and increases systemic inflammation. High maternal BMI is associated with adverse pregnancy outcomes, including an increased risk of both pre-eclampsia and preterm birth, which may be mediated through immune-related blood cell changes.MethodsThis study used Mendelian randomisation (MR) to investigate the causal relationship between maternal BMI and pregnancy outcomes, including birth weight, placental weight, gestational duration, and pre-eclampsia. We applied two-step MR to assess whether immune-related blood counts, such as neutrophils, lymphocytes, and platelets, mediate these relationships. Single-nucleotide polymorphism (SNP) effect estimates for maternal BMI and pregnancy outcomes were sourced from publicly available genome-wide association studies (GWASs), with pregnancy outcomes partitioned into maternal genetic effects to proxy genetic effects on the intrauterine environment.ResultsWe found that elevated maternal BMI causally increased placental weight (βIVW = 0.164 standard deviation (SD) increase in placental weight per SD increase in maternal BMI, p = 2.92 × 10−7) and the risk of pre-eclampsia (ORiVW 1.75, p = 6.3 × 10−30). The effect of maternal BMI on placental weight was larger than its effect on birth weight. Mediation analysis found no evidence of the involvement of immune-related blood counts in these relationships.ConclusionMaternal BMI has a significant impact on pregnancy outcomes, particularly by increasing placental weight and the risk of pre-eclampsia. These findings highlight BMI-driven placental adaptations as key contributors to pregnancy complications.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1791446</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1791446</link>
        <title><![CDATA[Sex-specific variations in subgingival microbiome of elderly patients with moderate periodontitis: an exploratory study]]></title>
        <pubdate>2026-04-24T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Ya-Qiong Zhao</author><author>Bi-Fen Kuang</author><author>Marie Aimee Dusenge</author><author>Qiong Liu</author><author>Feng-Yi Zhang</author><author>Ying-Hui Zhou</author>
        <description><![CDATA[IntroductionPeriodontitis, a leading cause of alveolar bone destruction and tooth loss, is associated with oral microbiota dysbiosis and shows higher susceptibility in males than in females. This study investigated sex-specific variations in the subgingival microbiome of elderly patients with moderate periodontitis.MethodsSubgingival plaque samples were collected from 25 patients with moderate periodontitis (8 males, 17 females; aged 50-73 years). The microbial composition was analyzed using 16S rRNA gene sequencing (V3–V4 region). Functional prediction was conducted utilizing the Kyoto Encyclopedia of Genes and Genomes (KEGG) database.ResultsMales exhibited higher Chao1 diversity, and beta diversity analysis revealed sex-based clustering. Wilcoxon rank-sum tests and LEfSe analysis identified Lactobacillus was enriched in females. KEGG analysis predicted a trend of enrichment of Immune system and Metabolic pathways in females.ConclusionThis exploratory study observed sex-specific subgingival microbiome variations of elderly patients with moderate periodontitis. Females exhibited specific enrichment of Lactobacillus, which may be associated with predicted Immune system and Metabolic pathways. These findings suggest that sex-specific microbiome differences may be a relevant biological variable in future periodontitis research, and their potential link to alveolar bone loss deserves further exploration.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1752017</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1752017</link>
        <title><![CDATA[Charting the immune terrain: a novel risk model for thyroid cancer prognosis]]></title>
        <pubdate>2026-04-23T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Qi Qi</author><author>Xiaoyan Cai</author><author>Qiang Lv</author>
        <description><![CDATA[ObjectivesTo construct a prognostic risk model for thyroid cancer based on immune genes and analyze the correlation between immune genes and immune infiltration.MethodsA 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.ResultsThe expression levels of CDK1, B3GNT7, S100A9, and MMP9 genes were higher in the poor prognosis group than the good prognosis group (P < 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 (P < 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 (P < 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 (P < 0.05).ConclusionCDK1, 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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1810737</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1810737</link>
        <title><![CDATA[Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection]]></title>
        <pubdate>2026-04-23T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Emelie Foord</author><author>Darius Sairafi</author><author>Monika Berg</author><author>Sofia Westerling</author><author>Toheeb Adigun</author><author>Mehmet Uzunel</author><author>Thessalia Papasavva</author><author>Michael Uhlin</author>
        <description><![CDATA[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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1771872</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1771872</link>
        <title><![CDATA[The role of pluripotency regulators in triple-negative breast cancer immune response]]></title>
        <pubdate>2026-04-23T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Carolina López-Santana</author><author>Fabio Mendez-Rivera</author><author>David A. Bernal-Estévez</author>
        <description><![CDATA[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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1792974</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1792974</link>
        <title><![CDATA[Prevalence of GSTM1 and GSTT1 null polymorphisms in an admixed healthy Venezuelan population: implications for pharmacogenetic baselines]]></title>
        <pubdate>2026-04-23T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Mercedes Fernández-Mestre</author><author>Eva Salazar-Alcalá</author><author>Juan Bautista De Sanctis</author><author>Dolores Moreno</author><author>Jenny Valentina Garmendia</author><author>Oriana Regalado-Gutiérrez</author><author>María Johanna Peña</author>
        <description><![CDATA[IntroductionThe 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.MethodsA 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.ResultsThe 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.DiscussionComparative 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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1808090</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1808090</link>
        <title><![CDATA[Genomic basis of adaptation to cardiac glycosides in three insect orders]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Kangli Zhu</author><author>Chengqi Zhu</author><author>Ying Zhen</author>
        <description><![CDATA[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 (Gli). We used CRISPR–Cas9 to generate viable, homozygous Gli knock-in Drosophila 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 Gli variant may contribute to CG adaptation by modulating epithelial permeability, potentially facilitating the sequestration of toxic CGs.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1792347</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1792347</link>
        <title><![CDATA[Framework for assessing genetic variation in livestock using demographic, pedigree, and genomic measures]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Review</category>
        <author>Gábor Mészáros</author><author>Ino Curik</author><author>Dominique Ouedraogo</author><author>Jack Windig</author><author>Gregoire Leroy</author><author>Yuri Tani Utsunomiya</author><author>Pamela Burger</author><author>Licia Colli</author><author>Chang Xu</author><author>Paul Boettcher</author><author>Christian Looft</author><author>Johann Soelkner</author>
        <description><![CDATA[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 (Ne) 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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1761836</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1761836</link>
        <title><![CDATA[Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Junxiang Tang</author><author>Yanhong Cao</author><author>Daoqi Huang</author><author>Chaohong Wang</author><author>Xiaohua Jiang</author><author>Jiansheng Zhu</author>
        <description><![CDATA[Floating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the SRCAP 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 SRCAP c.7330C>T (p.Arg2444Ter) mutation in both affected individuals. The proband also harbored compound heterozygous mutations in MMACHC (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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1775858</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1775858</link>
        <title><![CDATA[Integrated metabolomics and bioactivity analysis of Cynoglossum lanceolatum root extract as a natural inducer of resistance to rice bacterial blight]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Aadil Mansoori</author><author>Madan Mohan</author><author>Subha Narayan Das</author><author>Rakesh Kumar</author><author>Anirudh Kumar</author>
        <description><![CDATA[BackgroundSynthetic 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.MethodsIn the present study, Cynoglossum lanceolatum was screened for potential antioxidant, antimicrobial, and bacterial blight protection abilities. Methanol and aqueous extracts of C. Lanceolatum root was tested for their polyphenol content, antioxidant potential, metabolomics and antimicrobial study.ResultsResults 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, in vitro antibacterial studies confirmed the antimicrobial effect of methanol extract against Xanthomonas oryzae pv. oryzae (Xoo). 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 Xoo. Finally, the study evaluated the effectiveness of C. lanceolatum root extract against bacterial blight disease, finding a significant reduction in Xoo 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.ConclusionC. lanceolatum is a promising plant for its versatile role as an antioxidant, antimicrobial, and bacterial blight disease protection in rice.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1770769</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1770769</link>
        <title><![CDATA[Nanopore-m6A-finder, a novel m6A site caller for Nanopore DRS data]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Yuening Yang</author><author>Liqun Yu</author><author>Li Mo</author><author>Changhai Qi</author><author>Wei Song</author><author>Hua Jin</author>
        <description><![CDATA[IntroductionN6-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.MethodsHere, 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.Results and discussionNP-mFinder can determine m6A sites as well as estimate their methylation levels from Guppy basecalled DRS data. After training with DRS data of in vitro-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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1603788</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1603788</link>
        <title><![CDATA[A novel prognostic model for ovarian cancer: construction, validation, and therapeutic insights]]></title>
        <pubdate>2026-04-22T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Tingting Yu</author><author>Mingyang Gao</author><author>Yuexin Yu</author><author>Bolun Wang</author>
        <description><![CDATA[BackgroundOvarian 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.MethodsWe 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.ResultsWe 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.ConclusionThe 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.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1845666</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1845666</link>
        <title><![CDATA[Correction: BRMDA: prediction model for potential microbe-drug associations based on bilinear attention networks and random forest]]></title>
        <pubdate>2026-04-21T00:00:00Z</pubdate>
        <category>Correction</category>
        <author>Ge Yu</author><author>Fang Chen</author><author>Hui Chen</author><author>Shichang Tang</author><author>Mingmin Liang</author><author>Xianzhi Liu</author><author>Bin Zeng</author><author>Lei Wang</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1846361</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1846361</link>
        <title><![CDATA[Editorial: Genetic underpinnings of Alzheimer’s and Parkinson’s: insights and innovations]]></title>
        <pubdate>2026-04-21T00:00:00Z</pubdate>
        <category>Editorial</category>
        <author>Roberta Marongiu</author><author>Dennis Cordato</author><author>Allison B. Reiss</author>
        <description></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1794156</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1794156</link>
        <title><![CDATA[Network-based multi-omics approaches to identify molecular signatures associated with pregnancy status in beef heifers]]></title>
        <pubdate>2026-04-20T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>T. Cody Brown</author><author>Priyanka Banerjee</author><author>Paul W. Dyce</author><author>Shollie Falkenberg</author><author>Soren P. Rodning</author><author>Wellison J. S. Diniz</author>
        <description><![CDATA[Fertility is a multifactorial trait and a key determinant of productivity and sustainability in beef cattle production. Identifying molecular mechanisms and biomarkers associated with fertility could improve the prediction of reproductive potential in beef heifers. Herein, by combining transcriptomic and proteomic data from peripheral white blood cells (PWBCs) collected before the time of artificial insemination (AI), we investigated molecular differences between fertile and subfertile beef heifers (n = 6 per group) classified based on their reproductive outcomes. RNA-Sequencing and untargeted proteomics identified 230 differentially expressed genes (DEGs; P ≤ 0.05 and |log2FC| ≥ 0.5) and 70 differentially abundant proteins (DAPs; P ≤ 0.05) between groups. Over-representation analyses revealed that these molecules were associated with cell cycle regulation, metabolism, and immune-related pathways, including chemokine and JAK-STAT signaling (P ≤ 0.01). Data integration revealed limited overlap between DEGs and DAPs (UROS, KIFC3, DHRSX, and NPL). Among these, NPL expression was previously reported to be progesterone-responsive, supporting its potential role in early pregnancy establishment. Network analyses revealed distinct regulatory patterns between groups (|r ≥ 0.95| and P ≤ 0.05). At the transcript level, subfertile heifers exhibited increased connectivity, indicating potential compensatory transcriptional rewiring. We identified 92 regulatory impact factor (RIF) genes with potential modulatory roles, including ESR1. Epigenetic transcription factors, including MBD1, MBD2, and SMARCE1, were also rewired, suggesting an interplay between hormone signaling and chromatin regulation that modulates transcript expression and consequently fertility outcomes. Our results show that PWBCs reflect systemic molecular changes associated with fertility status and represent a promising, non-invasive source for biomarker discovery. This integrative multi-omics approach provided novel insights into the regulatory networks underlying fertility in beef heifers, highlighting the value of integrating multi-omics to identify key pathways and molecular targets to improve reproductive efficiency in beef production systems.]]></description>
      </item><item>
        <guid isPermaLink="true">https://www.frontiersin.org/articles/10.3389/fgene.2026.1799301</guid>
        <link>https://www.frontiersin.org/articles/10.3389/fgene.2026.1799301</link>
        <title><![CDATA[Sez6l promotes neuropathic pain via Wnt5a/Ca2+ pathways in dorsal root ganglion]]></title>
        <pubdate>2026-04-20T00:00:00Z</pubdate>
        <category>Original Research</category>
        <author>Limin Hu</author><author>Junjie Chen</author>
        <description><![CDATA[BackgroundNeuropathic pain (NP) is a prevalent chronic pain disorder that severely impairs the physical and mental health of patients, affecting 6.9%–10% of the general population. The dorsal root ganglion (DRG) is a crucial locus in the pathogenesis of NP. However, the underlying mechanisms by which DRGs contribute to this condition remain incompletely understood.MethodsHigh-throughput sequencing data of DRGs was downloaded from the Gene Expression Omnibus (GEO) and integrated for analysis. Differential expression analysis combined with multiple machine learning methods was employed to identify candidate genes associated with NP in DRGs. The spared nerve injury (SNI) model was used to assess gene expression patterns. Small interfering RNA-mediated knockdown of the target gene was performed to evaluate its functional role. Bioinformatics analysis and chromatin immunoprecipitation (ChIP) experiments were conducted to explore the transcriptional regulation of the target gene.ResultsSez6l was identified as a candidate gene upregulated in DRGs. In the SNI model, Sez6l was significantly upregulated. Knockdown of Sez6l reduced the expression levels of inflammatory cytokines (IL-6, TNF-α, and IL-1β) and alleviated mechanical allodynia and thermal hyperalgesia in SNI mice. Bioinformatics analysis and ChIP experiments suggested that Foxo1 may enhance the transcription and expression of Sez6l. Mechanistically, Sez6l promoted NP by activating the Wnt5a/Ca2+ signaling pathway in DRGs.ConclusionOur findings suggest that Sez6l, which is transcriptionally regulated by Foxo1, facilitates neuropathic pain through activating the Wnt5a/Ca2+ signaling pathway in DRGs.]]></description>
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