Genes & genomicsPub Date : 2026-10-13DOI: 10.1007/s13258-026-01809-0
Qinyuan Li, Xiaoxu Zhang, Haijing Liang, Qin Jiang, Yiyi Ruan, Ziwei Zhu, Rui Li, Yang Tao, Min Sun, Yixi Yang
{"title":"Genome-wide identification of NAC transcription factors in Herpetospermum pedunculosum and expression analysis under salt stress.","authors":"Qinyuan Li, Xiaoxu Zhang, Haijing Liang, Qin Jiang, Yiyi Ruan, Ziwei Zhu, Rui Li, Yang Tao, Min Sun, Yixi Yang","doi":"10.1007/s13258-026-01809-0","DOIUrl":"https://doi.org/10.1007/s13258-026-01809-0","url":null,"abstract":"<p><strong>Background: </strong>NAC (NAM, ATAF1/2, CUC2) transcription factors are plant-specific regulators of development and abiotic-stress adaptation, yet their properties and functions in the alpine cucurbit Herpetospermum pedunculosum remains unknown.</p><p><strong>Objective: </strong>This study aims to conduct a genome-wide identification and characterization of the NAC transcription factor family in H. pedunculosum and to preliminarily explore its potential functions in response to salt stress.</p><p><strong>Methods: </strong>NAC genes in the H. pedunculosum genome were identified, followed by analyses of their chromosomal distribution, phylogenetic relationships, gene structures, conserved motifs, and promoter cis-elements, and Gene Ontology (GO) annotation. Their expression patterns were analyzed using transcriptome data from salt stress conditions, and eight salt-responsive genes were validated by RT-qPCR. Finally, the subcellular localization of a representative candidate gene, HpNAC33, was determined experimentally.</p><p><strong>Results: </strong>A total of 80 HpNAC genes were identified, distributed unevenly across 10 chromosomes, and classified them into 16 subfamilies based on phylogenetic analysis. The promoter analyses revealed extensive cis‑regulatory diversity associated with light signaling, development, phytohormone pathways, and stress responses. GO annotation indicated enrichment in terms related to transcription regulator activity, binding, and response to stimulus. Eight salt-responsive genes were selected for RT-qPCR validation, which confirmed their differential expression under salinity. Subcellular localization assays confirmed that HpNAC33 localizes to the nucleus; however, yeast-based transcriptional activation assay did not detect intrinsic transactivation activity for HpNAC33.</p><p><strong>Conclusion: </strong>This study provides a comprehensive genome-wide NAC resource for H. pedunculosum and prioritizes candidate regulators for future dissection of salinity-tolerance mechanisms, while also offering initial insights into the potential mode of action of HpNAC33.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149181105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Landmark-based truss morphometrics and COI barcoding reveal differentiation among Channa species and Channa striata populations in Bangladesh.","authors":"Rubaiya Pervin, Sharmin Ahmed, Nazifa Tasnim, Md Nasir Khan, Md Ashraful Alam, Md Rabiul Awal, Mohosena Begum Tanu, Imran Parvez","doi":"10.1007/s13258-026-01812-5","DOIUrl":"https://doi.org/10.1007/s13258-026-01812-5","url":null,"abstract":"<p><p>Accurate identification of Channa species and distinction between native and cultured stocks are important for both aquaculture and conservation in Bangladesh. This study combined landmark-based truss morphometrics with mitochondrial cytochrome c oxidase subunit I (COI) barcoding to examine morphological and mitochondrial differentiation among selected Channa species, with particular attention to native Bangladeshi and Vietnam-originated cultured C. striata. Morphometric variation was assessed using 13 homologous landmarks and 26 truss measurements after allometric size standardization, followed by principal component analysis, multivariate analysis of variance, and UPGMA clustering. COI sequences from 21 specimens were analysed together with reference sequences using genetic-distance, substitution-pattern, maximum-likelihood, and maximum-parsimony approaches. The morphometric analyses revealed clear body-shape differences among the examined taxa and between the two C. striata populations. The COI data also separated the major species groups and consistently distinguished native Bangladeshi from Vietnam-originated cultured C. striata. The representative genetic distance between the two C. striata populations was 0.0341, while within-group distances were 0.0441 for the native population and 0.0005 for the cultured stock. Maximum-likelihood and maximum-parsimony trees were generally consistent at the species and population levels, although deeper relationships were less stable and received weaker support. Morphological and molecular clustering were therefore not fully congruent, likely because body shape can be influenced by environmental conditions and phenotypic plasticity, whereas COI reflects maternal lineage history. Overall, the findings support clear morphological and mitochondrial differentiation among the examined Channa taxa and between the two C. striata populations. Broader geographic sampling and the inclusion of nuclear or genome-wide markers will be needed to assess admixture, local adaptation, and population structure more fully.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & genomicsPub Date : 2026-10-08DOI: 10.1007/s13258-026-01807-2
Chaekyung Ryu, Sejin Kim, Jao Lee, Dami Kim, Siuk Yoo
{"title":"NK2.2/Vnd acts as a transcriptional activator of deadpan to maintain neuroblast identity in Drosophila embryos.","authors":"Chaekyung Ryu, Sejin Kim, Jao Lee, Dami Kim, Siuk Yoo","doi":"10.1007/s13258-026-01807-2","DOIUrl":"https://doi.org/10.1007/s13258-026-01807-2","url":null,"abstract":"<p><strong>Background: </strong>Drosophila ventral nervous system defective (vnd/NK2.2) encodes a homeodomain (HD) transcription factor essential for establishing neuroblast (NB) identity in the ventral nerve cord. However, its direct downstream targets during embryonic neurogenesis remain largely unknown.</p><p><strong>Objective: </strong>This study aimed to identify target genes directly regulated by Vnd and elucidate the molecular mechanisms underlying their regulation during the formation of embryonic NBs.</p><p><strong>Methods: </strong>Expression profiles and embryonic phenotypes were analyzed in either vnd<sup>6</sup>/Y or dpn<sup>1</sup>/dpn<sup>1</sup> single mutants and vnd<sup>6</sup>/Y; dpn<sup>1</sup>/dpn<sup>1</sup> double mutants using immunofluorescence. Direct binding of the Vnd HD to the deadpan (dpn) promoter was assessed via EMSA, and functional binding sites were validated using dual-luciferase reporter assays in S2 cells. The dosage-dependent relationship between vnd and dpn was characterized in primary neural cultures using real-time PCR and quantitative immunofluorescence.</p><p><strong>Results: </strong>Both vnd<sup>6</sup>/Y and dpn<sup>1</sup>/dpn<sup>1</sup> single mutants exhibited similar developmental defects, including NB mis-specification and central/peripheral nervous system disorganization. Consistently, vnd<sup>6</sup>/Y; dpn<sup>1</sup>/dpn<sup>1</sup> double mutants displayed severely aggravated, overlapping neurogenic phenotypes, suggesting their functional convergence in a combinatorial regulatory mechanism. EMSA and reporter assays demonstrated that Vnd HD specifically binds to the distal V2 site (- 810 to - 803 bp from the dpn transcription start site) containing a 5'-AAGT-3' core motif. In primary cultures, vnd overexpression significantly elevated dpn transcripts and signal intensities, whereas vnd knockdown markedly reduced dpn expression.</p><p><strong>Conclusion: </strong>Our findings demonstrate that Vnd directly binds to a specific cis-regulatory motif within the dpn promoter, functioning as a transcriptional activator to maintain NB identity and architectural integrity during Drosophila embryogenesis.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149136304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & genomicsPub Date : 2026-10-01Epub Date: 2026-08-06DOI: 10.1007/s13258-026-01798-0
Kwangmin Park, Eun You Kim, Eun Ju Lee, Heeju Nam, Hye-Won Park, Eun Hye Lee, Hyunjung Kim, Kyung Eun Lee, Daeuk Jeon, Jungho Kim
{"title":"Integrative analysis of TCGA data identifies hsa-miR-200a as a breast cancer-associated microRNA biomarker with exploratory serum validation.","authors":"Kwangmin Park, Eun You Kim, Eun Ju Lee, Heeju Nam, Hye-Won Park, Eun Hye Lee, Hyunjung Kim, Kyung Eun Lee, Daeuk Jeon, Jungho Kim","doi":"10.1007/s13258-026-01798-0","DOIUrl":"10.1007/s13258-026-01798-0","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is a biologically heterogeneous disease, and reliable non-invasive biomarkers are needed to improve early detection and clinical risk stratification. MicroRNAs (miRNAs) represent promising diagnostic candidates due to their regulatory roles in tumor-associated gene expression.</p><p><strong>Objective: </strong>In this study, an integrative analysis of miRNA and mRNA expression profiles was performed using paired tumor and normal samples from the TCGA-BRCA cohort to identify diagnostically relevant miRNAs.</p><p><strong>Methods: </strong>Differential expression analysis and receiver operating characteristic (ROC) curve analysis were used to identify miRNAs with high discriminatory capacity. Priority was given to candidates showing strong inverse correlation with predicted target genes. A logistic regression model was developed for internal validation using a held-out test set, and exploratory clinical serum analysis was conducted using qRT-PCR on serum samples from breast cancer patients and healthy controls.</p><p><strong>Results: </strong>Multiple upregulated miRNAs with strong discriminatory capacity (AUC values > 0.90) were identified. Among these, hsa-miR-200a was prioritized based on consistently high diagnostic accuracy and a strong inverse correlation with its predicted target gene, TNS1. hsa-miR-200a expression was elevated across pathological stages and molecular subtypes, whereas TNS1 expression was progressively reduced. The logistic regression model achieved an accuracy of 92.9% and a sensitivity of 96.7% in a held-out internal test set. Exploratory serum analysis suggested altered circulating hsa-miR-200a-5p patterns, with distinct perioperative dynamics according to clinical risk.</p><p><strong>Conclusions: </strong>These findings support hsa-miR-200a as a potential breast cancer-associated miRNA biomarker candidate and highlight the utility of integrative transcriptomic and exploratory clinical serum approaches for future precision diagnostics.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1325-1338"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148678226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & genomicsPub Date : 2026-10-01Epub Date: 2026-08-12DOI: 10.1007/s13258-026-01787-3
Lu Yang, Yuqing Wang, Zhonghuan Tian, Chao-An Long
{"title":"PdEch1 regulates the conidia production of Penicillium digitatum and oxidative stress tolerance.","authors":"Lu Yang, Yuqing Wang, Zhonghuan Tian, Chao-An Long","doi":"10.1007/s13258-026-01787-3","DOIUrl":"10.1007/s13258-026-01787-3","url":null,"abstract":"<p><strong>Background: </strong>Citrus is the most widely cultivated fruit crop with the highest yield worldwide, and postharvest losses caused by Penicillium digitatum account for 90% of the total postharvest losses in citrus. Enoyl-CoA hydratase (ECH) catalyzes the second step of β-oxidation, the primary pathway of fatty acid catabolism. Previous studies have shown that ECH deficiency causes developmental delay, mitochondrial dysfunction, nervous system damage and other symptoms, and these phenotypes have been reported in humans, mice and Drosophila.</p><p><strong>Objective: </strong>This study aimed to characterize the biological function of the PdEch1 gene in P. digitatum.</p><p><strong>Methods: </strong>The PdEch1 gene deletion strain ΔPdEch1 and complemented strain ΔPdEch1-C were constructed via Agrobacterium-mediated genetic transformation. Physiological assays were performed, including mycelial growth rate measurement, conidial yield quantification, conidial germination rate assay, stress agent sensitivity testing, and pathogenicity evaluation. In addition, transcriptome sequencing and quantitative real-time PCR (qRT-PCR) were conducted.</p><p><strong>Results: </strong>Deletion of PdEch1 increased conidial production by 51.4% and altered the expression of conidiation-related genes such as brlA and rodA. Furthermore, the ΔPdEch1 strain exhibited significantly enhanced resistance to H<sub>2</sub>O<sub>2</sub>. Compared with the wild-type strain N1, mycelial growth, conidial germination, and pathogenicity of P. digitatum were not affected.</p><p><strong>Conclusions: </strong>This study reveals that the PdEch1 gene is closely associated with conidial formation and oxidative stress tolerance in P. digitatum, providing a reference for the development and screening of target sites for novel fungicides.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1311-1323"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148712167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Inhibition of PI3K/AKT/mTOR pathway suppresses growth of oral squamous cell carcinoma in 2D and 3D in vitro model and animal model.","authors":"Hui Xu, Xin Luo, Xin He, Xinxin Jin, Yahong Zhang, Xiaoxue Xu","doi":"10.1007/s13258-026-01791-7","DOIUrl":"10.1007/s13258-026-01791-7","url":null,"abstract":"<p><strong>Background: </strong>Oral squamous cell carcinoma (OSCC) is a prevalent and aggressive malignancy with a high rate of recurrence and poor prognosis. The PI3K/AKT/mTOR signaling pathway plays a pivotal role in cancer progression by regulating cell growth, survival, and metabolism. This study evaluates the therapeutic potential of targeting this pathway using in vitro (2D and 3D) and in vivo models to better mimic tumor complexity.</p><p><strong>Objective: </strong>The study aims to explore effects of inhibition of PI3K/AKT/mTOR pathway on growth of oral squamous cell carcinoma.</p><p><strong>Methods: </strong>OSCC cell lines (HSC3, HSC6) were treated with PI3K (LY294002), AKT (capivarsetib), and mTOR (rapamycin) inhibitors in 2D monolayers and 3D spheroids. Viability was assessed via MTT assays, and pathway modulation was confirmed by Western blot (reduced p-AKT/p-mTOR). In vivo, rapamycin's efficacy was tested in a xenograft model.</p><p><strong>Results: </strong>Pathway inhibition significantly inhibited viability and induced apoptosis in both 2D and 3D cultures, with 3D models showing differential drug sensitivity. Rapamycin suppressed tumor growth in vivo, corroborating in vitro findings.</p><p><strong>Conclusion: </strong>This study supports the potential of PI3K/AKT/mTOR inhibitors as promising therapeutic agents for OSCC and underscores the need for further clinical evaluation.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1295-1309"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148601989","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"IRF2 exacerbates diabetic neuropathic pain by promoting high glucose-induced M1 polarization through IL-6/STAT3.","authors":"Yuewei Liang, Ya Ning, Xiaomei Li, Pengcheng Feng, Yingying Liu, Youqing Huang","doi":"10.1007/s13258-026-01800-9","DOIUrl":"10.1007/s13258-026-01800-9","url":null,"abstract":"<p><strong>Background: </strong>M1 macrophage polarization is a key mechanism in diabetic neuropathic pain (DNP), and interferon regulatory factor 2 (IRF2) has been shown to regulate macrophage polarization.</p><p><strong>Objective: </strong>The present study investigated whether IRF2 participates in DNP progression by regulating macrophage polarization.</p><p><strong>Methods: </strong>A DNP mouse model was established using a high-fat diet combined with streptozotocin (STZ), and an in vitro model of RAW264.7 macrophages stimulated with high glucose (HG) was used for parallel validation. The metabolic status of the mice was assessed by regular monitoring of body weight and fasting blood glucose levels. Pathological damage to the sciatic nerve was detected via HE staining. Pain sensitivity was comprehensively evaluated using von Frey tests and hot plate experiments. Western blot, immunofluorescence, ELISA, and RT‒qPCR analyses were used to detect protein and gene expression.</p><p><strong>Results: </strong>IRF2 was highly expressed in DNP mice and HG-stimulated RAW264.7 macrophages. Knockdown of IRF2 improved pain sensitivity in DNP mice (increased tactile response thresholds and decreased thermal response latency) and ameliorated sciatic nerve injury. Additionally, IRF2 knockdown suppressed M1 macrophage polarization (reduced expression of iNOS, CD80, and CD86) and inflammatory responses (lowered IL-1β, IL-6, and TNF-α levels). Further, IRF2 promoted p-STAT3/STAT3 expression, and treatment with colivelin, a STAT3 activator, attenuated the inhibitory effect of IRF2 knockdown on M1 polarization. Moreover, IRF2 was demonstrated to bind to the IL-6 promoter and increase its transcriptional activity.</p><p><strong>Conclusions: </strong>IRF2 exacerbates DNP by activating IL-6/STAT3 to promote HG-induced M1 macrophage polarization.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1339-1351"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148827459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & genomicsPub Date : 2026-10-01Epub Date: 2026-08-21DOI: 10.1007/s13258-026-01793-5
Mohammad Shafiq, Rimshah Sabir, Yossma Waheed, Xue Feng, Kirill Sergeeyvich Golokhvast, Muhammad Amjad Nawaz
{"title":"Comparative identification of abiotic stress-responsive differentially expressed genes in chickpea using unsupervised machine learning, and traditional meta-analysis.","authors":"Mohammad Shafiq, Rimshah Sabir, Yossma Waheed, Xue Feng, Kirill Sergeeyvich Golokhvast, Muhammad Amjad Nawaz","doi":"10.1007/s13258-026-01793-5","DOIUrl":"10.1007/s13258-026-01793-5","url":null,"abstract":"<p><strong>Background: </strong>Climate change poses a growing threat to chickpea production through abiotic stresses such as drought, heat, and salinity. Understanding the molecular stress response of chickpea is critical for improving resilience and minimizing yield loss.</p><p><strong>Objective: </strong>To identify robust, stress-responsive differentially expressed genes (DEGs) in chickpea under abiotic stress (drought, salt, and salinity) by comparing three complementary large-scale RNA-seq data analytical approaches.</p><p><strong>Methods: </strong>This study employed three complementary approaches, traditional meta-analysis, conventional statistical testing, and unsupervised machine learning, on publicly available chickpea RNA-seq data to identify robust differentially expressed genes (DEGs) under drought, salt, and salinity stress. Available RNA-seq datasets were integrated regardless of variety, tissue type, or geographical origin. The HDBSCAN clustering algorithm was optimized through distance metric evaluation and grid search hyperparameter tuning, with Euclidean distance optimal for drought and salinity and Manhattan distance for salt stress.</p><p><strong>Results: </strong>Standard deviation-based feature engineering on the top 3,000 most variable genes yielded the most stress-specific DEGs, with high fold enrichments for cytochrome P450, phenylpropanoid biosynthesis, and heme binding under drought. For salt and salinity stress, limited sample availability constrained the feature space, reducing HDBSCAN clustering resolution and DEG specificity demonstrating that ML performance scales markedly with sample size and feature richness, where DESeq2 showed comparatively greater robustness. For the drought dataset spanning 11 bioprojects, Limma-voom and DESeq2 with bioproject correction both returned non-specific housekeeping enrichment, in direct contrast to the stress-specific signal recovered by HDBSCAN, empirically demonstrating the superior biological specificity of unsupervised ML-based outlier detection in heterogeneous multi-bioproject data.</p><p><strong>Conclusion: </strong>Compared to HN-score meta-analysis, HDBSCAN demonstrated superior stress specificity by leveraging complex high-dimensional expression patterns, offering a powerful and scalable strategy for stress-responsive gene identification in chickpea and other crops.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1275-1293"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148792133","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & genomicsPub Date : 2026-10-01Epub Date: 2026-09-01DOI: 10.1007/s13258-026-01802-7
Nicole Aurora Kirk, Ye Eun Hwang, Seul Gi Lee, Juyeon Kang, Kate-Lin Ly, Yong Yu Gan, Sangmyung Rhee, Kee-Beom Kim, Kwon-Sik Park
{"title":"ROBO1 is required for postnatal growth and survival.","authors":"Nicole Aurora Kirk, Ye Eun Hwang, Seul Gi Lee, Juyeon Kang, Kate-Lin Ly, Yong Yu Gan, Sangmyung Rhee, Kee-Beom Kim, Kwon-Sik Park","doi":"10.1007/s13258-026-01802-7","DOIUrl":"10.1007/s13258-026-01802-7","url":null,"abstract":"<p><p>Roundabout guidance receptor 1 (ROBO1) is critical for various processes essential to mammalian development. However, its role in postnatal development and growth remains poorly understood, primarily due to perinatal lethality in knockout models. Robo1 knockout mice on a mixed B6/129S genetic background survive into adulthood and exhibit previously unreported abnormalities across multiple organs. These mice display stunted growth and organ-specific defects, including enlarged lung alveoli, premature hair graying, and diminished subcutaneous fat. Notably, these mice have a reduced lifespan. At 23 days of age, corresponding to the beginning of early puberty in mice, Robo1 knockout mice show significantly reduced plasma levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), paralleling decreased expression in the pituitary gland and liver, respectively, compared to wild-type littermates. These findings suggest that ROBO1 contributes to the postnatal development and functional maintenance of multiple organs, with associated modulation of the GH/IGF-1 axis, potentially influencing survival. Further studies with larger cohorts are warranted to elucidate the broader implications of ROBO1 deficiency, particularly in relation to human developmental disorders such as growth hormone deficiencies.</p>","PeriodicalId":12675,"journal":{"name":"Genes & genomics","volume":" ","pages":"1265-1273"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13661687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148873838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}