BMC GenomicsPub Date : 2025-10-10DOI: 10.1186/s12864-025-12051-5
Sohee Shin, Eonyong Han, Hyeju Seong, Yong Il Kim, Inuk Jung, Woosuk Jung
{"title":"De novo transcriptome assembly and gene expression analysis of Cnidium officinale under high-temperature conditions.","authors":"Sohee Shin, Eonyong Han, Hyeju Seong, Yong Il Kim, Inuk Jung, Woosuk Jung","doi":"10.1186/s12864-025-12051-5","DOIUrl":"10.1186/s12864-025-12051-5","url":null,"abstract":"<p><strong>Background: </strong>The medicinal plant Cnidium officinale (CO) is widespread in Northeast Asia and vulnerable to heat stress. The naturally occurring composition of pharmacological ingredients of CO results in overall physiological consequences; therefore, it is crucial to have a comprehensive understanding of metabolic response to ambient heat in terms of acclimation to estimate how much CO is exposed to threatening environmental conditions.</p><p><strong>Results: </strong>Transcriptome analysis is critical for understanding the consequences of long-term physiological adaptation of CO to abiotic stress. However, transcriptome analysis on this species, particularly under prolonged stress conditions, has remained limited. We employed a temperature gradient tunnel (TGT) to subject CO to high-temperature exposure for four months, enabling us to observe the cumulative effects of heat and assess its acclimation mechanisms. In the absence of genome sequencing data, we performed de novo transcriptome assembly and compared DEGs from temperature treatment plots of a TGT and a growth chamber (GC). Since interpreting transcriptomic data can be complex, we employed a sequential analytical approach, including DEG clustering, GO enrichment, KEGG pathway mapping, miRNA-target gene analysis, and multiple rounds of RNA sequencing validation. DEGs were classified into two categories: genes exhibiting significant fold changes and genes showing significant count changes rather than fold changes. Then, we analyzed the functional roles of DEGs to determine which pathways respond to ambient and stressful high temperatures and validated the findings through cross-comparison with GC. Additionally, we conducted miRNA analysis to investigate post-transcriptional regulation under high temperatures. CO grown under higher ambient temperatures exhibited slight upregulation of pathways related to protein stability and turnover, ABA biosynthesis, and energy production, such as photosynthesis and oxidative phosphorylation. However, under extreme heat stress, most metabolic pathways were downregulated except for those involved in transcription, translation, oxidative phosphorylation and the biosynthesis of cutin, suberin, and wax.</p><p><strong>Conclusion: </strong>This study demonstrated that proper clustering of genes based on expression levels and fold changes in two different experimental conditions, along with pathway mapping, may provide a comprehensive understanding of CO's response to heat stress. These insights could contribute to future research on heat tolerance and crop improvement.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"907"},"PeriodicalIF":3.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-10DOI: 10.1186/s12864-025-12028-4
Alice Michel, Marie Leoz, Nicolas Nesi, Hortense Petat, Meriadeg Ar Gouilh, Camille Charbonnier Le Clezio, Christophe Marguet, Chervin Hassel, Jean-Christophe Plantier
{"title":"Impact of RNA extraction on respiratory microbiome analysis using third-generation sequencing.","authors":"Alice Michel, Marie Leoz, Nicolas Nesi, Hortense Petat, Meriadeg Ar Gouilh, Camille Charbonnier Le Clezio, Christophe Marguet, Chervin Hassel, Jean-Christophe Plantier","doi":"10.1186/s12864-025-12028-4","DOIUrl":"10.1186/s12864-025-12028-4","url":null,"abstract":"","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"908"},"PeriodicalIF":3.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-10DOI: 10.1186/s12864-025-12124-5
Panrong Ren, Jie Wang, Lei Gong
{"title":"Integrated 16 S rRNA and transcriptome analysis reveal molecular and microbial mechanisms of cold-tolerant germination in hulless barley.","authors":"Panrong Ren, Jie Wang, Lei Gong","doi":"10.1186/s12864-025-12124-5","DOIUrl":"10.1186/s12864-025-12124-5","url":null,"abstract":"<p><strong>Background: </strong>Elucidating the mechanisms underlying cold-tolerant germination is crucial for enhancing crop resilience to low temperatures. Hulless barley (Hordeum vulgare var. coeleste L.), with remarkable natural cold adaptation, serves as an ideal model to study cold stress tolerance mechanisms in gramineous crops. In this study, cold-tolerant variety 37 and cold-sensitive variety 44 were screened and used to investigate the molecular mechanisms of cold-tolerant germination, via seed germination assays, combined with phytohormone determination, transcriptome sequencing and 16 S rRNA amplicon sequencing.</p><p><strong>Results: </strong>Low temperature significantly inhibited hulless barley seed germination: the germination rate of cold-sensitive variety 44 decreased by 69%, while that of cold-tolerant variety 37 only decreased by 2%. Transcriptome analysis identified 2,647 and 2,392 differentially expressed genes (DEGs) in variety 37 and 44, respectively. Weighted gene co-expression network analysis (WGCNA) revealed a green module significantly positively correlated with gibberellic acid (GA) content, containing 10 core genes such as late embryogenesis abundant protein (LEA) and Homeobox genes. 16 S rRNA sequencing showed that the cold-tolerant variety 37 had enriched abundances of dominant endophytes including Sphingomonas and Pelomonas, with correlation coefficients of 0.70 and 0.87 with GA content, respectively. Additionally, exogenous GA treatment significantly increased germination rates under cold stress by 176.67% in cold-sensitive variety 44.</p><p><strong>Conclusions: </strong>This study confirms that the enhanced cold tolerance of hulless barley during seed germination originates from the synergistic interaction between beneficial endophytes (Sphingomonas, Pelomonas), GA, and core genes (e.g., LEA, Homeobox). Exogenous GA application can significantly restore the germination ability of cold-sensitive varieties. These findings provide a critical theoretical basis for improving cold tolerance in hulless barley germplasm.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"906"},"PeriodicalIF":3.7,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-09DOI: 10.1186/s12864-025-12072-0
Rufei Pan, Chao Li, Feifei Shi, Panfei Wang, Jing Liu, Tiantian Wang, Cai Lian, Wenling Zheng, Haixia Wei, Keqing Song, Jie Liu
{"title":"BestopCloud: an integrated one-stop solution for single-cell RNA sequencing data analysis.","authors":"Rufei Pan, Chao Li, Feifei Shi, Panfei Wang, Jing Liu, Tiantian Wang, Cai Lian, Wenling Zheng, Haixia Wei, Keqing Song, Jie Liu","doi":"10.1186/s12864-025-12072-0","DOIUrl":"10.1186/s12864-025-12072-0","url":null,"abstract":"<p><p>Single-cell RNA sequencing (scRNA-seq) technology has emerged as a powerful tool for unveiling cellular heterogeneity, yet the high dimensionality and complexity of the data it generates pose analytical challenges for non-professional programmers. To streamline the process, we have developed BestopCloud, a functionally comprehensive and user-friendly online analysis platform. Comprising nine modules, BestopCloud supports diverse parameter settings within each module and is capable of producing high-quality chart files. Furthermore, these modules can be used independently and flexibly linked through data flow. In summary, BestopCloud provides researchers with an in-depth solution for scRNA-seq data processing, analysis, and visualization.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"905"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-09DOI: 10.1186/s12864-025-11987-y
Yan Zhou, Yaohua Hu, Liuting Tan, Jiadi Zhu, Yutong Fei, Ming Gu, Dechao Tian
{"title":"PB-DiffHiC: a statistical framework for detecting differential chromatin interactions from high resolution pseudo-bulk Hi-C data.","authors":"Yan Zhou, Yaohua Hu, Liuting Tan, Jiadi Zhu, Yutong Fei, Ming Gu, Dechao Tian","doi":"10.1186/s12864-025-11987-y","DOIUrl":"10.1186/s12864-025-11987-y","url":null,"abstract":"<p><p>Single-cell Hi-C (scHi-C) data provide unprecedented opportunities for analyzing differential chromatin interactions, essential for understanding genome structure-function relationships across various biological conditions. However, biologically meaningful differential chromatin interaction analysis at high resolution (e.g., 10 Kb) remains challenging due to the inherent sparsity of scHi-C data. Existing approaches typically rely on single cell imputation, which is computationally intensive and lacks validation, or apply conventional bulk Hi-C tools to pseudo-bulk matrices aggregated from individual cells. The sparsity of high-resolution pseudo-bulk data limits the effectiveness of bulk-oriented methods. Here, we present PB-DiffHiC, an optimized parametric statistical framework that directly analyzes raw pseudo-bulk Hi-C data at 10 Kb resolution between conditions. PB-DiffHiC incorporates Gaussian convolution, the stability of short-range interactions, and Poisson modeling to jointly perform normalization and statistical testing. Benchmarking on cell-type-specific chromatin loops shows that PB-DiffHiC achieves higher precision than alternative methods. Application to pseudo-bulk and matched bulk Hi-C data demonstrates stronger concordance in identified differential interactions, reinforcing its reliability. In a case study, PB-DiffHiC successfully identifies Kcnq5-associated differential interactions that closely matching SnapHiC-D results, despite not relying on single-cell imputation. PB-DiffHiC is a statistically sound and robust method for high-resolution differential analysis of chromatin interactions using raw pseudo-bulk Hi-C data. The source code of PB-DiffHiC is publicly available at https://github.com/Tian-Dechao/PB-DiffHiC .</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"900"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Spatiotemporal methylome remodeling during fiber differentiation in Gossypium hirsutum.","authors":"Zhipeng Yu, Haijuan Cao, Xiaolian Xiong, Shuhan Wen, Xia Huang, Ying Jin, Junkang Rong, Mingquan Ding","doi":"10.1186/s12864-025-12116-5","DOIUrl":"10.1186/s12864-025-12116-5","url":null,"abstract":"<p><p>Whole-genome methylome analysis reveals DNA methylation dynamics during upland cotton (Gossypium hirsutum) fiber development. DNA methylation levels initially increased and then decreased from -3 days post-anthesis (DPA) to 5 DPA, with a significant rise during the rapid elongation stage (5 DPA to 14 DPA), particularly in CHH methylation levels. Integrated transcriptome analysis links elevated DNA methylation to reduced demethylase gene expression (DME, ROS1, DML3). DNA methylation remodeling modulates fiber development through coordinated regulation of lipid metabolism, DNA replication, phosphatidylinositol signaling system and hormonal signaling pathways. Several key transcription factors, such as TCP14, HD1, HOX3, and MYB25-like, showed a strong correlation with DMRs, suggesting their regulation by DNA methylation. Furthermore, Multi-omics integration posits that DNA methylation may regulate genes related to fiber development, particularly those related to fatty acid biosynthesis and metabolism, ultimately influencing upland cotton fiber development. Analysis of genes highly correlated with changes in differentially methylated regions (DMRs) indicates DNA methylation can modulate the expression of KCS family genes, including KCS13, as well as KCRL1, thereby participating in the fatty acid elongation pathway.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"901"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genome-wide ascertainment and initial functional characterization and expression pattern dissection of the GT92 gene family in cotton.","authors":"Xin Wei, Yang Jiao, Zipiao Zheng, Qingqian Ma, Aerman Abulimiti, Liyun Yang, Yuanyuan Liu, Tianyu Zhang, Mingzhe Wu, Dawei Zhang, Haijiang Xu","doi":"10.1186/s12864-025-12034-6","DOIUrl":"10.1186/s12864-025-12034-6","url":null,"abstract":"<p><strong>Background: </strong>The glycosyltransferase 92 (GT92) gene belongs to the glycosyltransferase gene family. In the plant genome, it is one of the numerous genes involved in sugar metabolism and glycosylation modification. Nonetheless, the GT92 sub-family assumes a vital function in facilitating plants' adaptation to adverse environments and modulating plant growth, development, and the processes of organogenesis. To date, comprehensive characterization and systematic investigation of GT92 in cotton remain underexplored.</p><p><strong>Results: </strong>In this study, we systematically analyzed the structural features, phylogenetic tree, gene architecture, expression profiles, evolutionary relationships, and selective pressures of GT92 gene family members across four Gossypium species using bioinformatics approaches for the first time. Collectively, 44 GT92 genes were identified, including 14 in G. hirsutum. Based on the phylogenetic tree, GT92 protein sequences from the four cotton species were clustered into five distinct subfamilies. Chromosomal mapping of these genes was performed, and their structural details were visualized. We further predicted cis-acting elements in G. hirsutum GT92 genes and characterized duplication patterns across the four Gossypium species. Ka/Ks ratios of orthologous gene pairs were calculated to investigate selective pressures among the species. RNA-seq data from G. hirsutum and G. barbadense revealed GT92 expression patterns. WGCNA (Weighted Gene Co-expression Network Analysis) identified GhGT92_5 and GhGT92_6 as members of the MEtan module, which was significantly negatively correlated with the 6-hour time point post-drought stress. Mfuzz trend analysis classified GhGT92_5 and GhGT92_6 into Cluster13 and Cluster14, respectively. qRT-PCR validated their roles under drought and salt stress conditions. Subcellular localization showed GhGT92_5 primarily distributed in the plasma membrane and chloroplasts, while GhGT92_6 was localized in the endoplasmic reticulum and chloroplasts.</p><p><strong>Conclusions: </strong>All of these findings have expanded our understanding of the GT92 family members, establishing a basis for more in-depth exploration of the stress-tolerance mechanisms of this gene in cotton.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"902"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-09DOI: 10.1186/s12864-025-12099-3
N B Kingsley, L Sandmeyer, A Dwyer, C D Langefeld, R J McMullen, M McCue, M Lassaline, R R Bellone
{"title":"A genome-wide investigation of insidious uveitis in Appaloosa horses.","authors":"N B Kingsley, L Sandmeyer, A Dwyer, C D Langefeld, R J McMullen, M McCue, M Lassaline, R R Bellone","doi":"10.1186/s12864-025-12099-3","DOIUrl":"10.1186/s12864-025-12099-3","url":null,"abstract":"<p><strong>Background: </strong>Equine recurrent uveitis (ERU), an inflammatory eye disease, is the leading cause of blindness among horses. Insidious uveitis, a form of ERU, is especially pervasive within the Appaloosa breed and is highly heritable (h<sup>2</sup> = 0.68-1.0). To date only one risk locus, leopard complex (LP), has been identified, and it explained 0.16-0.33 of the heritability estimate, suggesting that insidious uveitis is a complex genetic disease within the Appaloosa horse breed with multiple unknown predisposing loci.</p><p><strong>Results: </strong>A genome-wide association study (GWAS) using relatedness, LP genotype, sex, and age as covariates was performed on a sample of 96 Appaloosas (36 cases and 60 controls) and identified a 9.7 Kb region of association on ECA X (chrX:14528106-14537812) as significantly associated (P = 2.11 × 10<sup>-8</sup>). Sex stratification followed by meta-analysis provided additional support for the association on ECA X (P = 1.35 × 10<sup>-8</sup>). A logistic regression model was performed to test for epistasis between LP and the locus on ECA X, and the results did not support an interaction between the two loci. In the second phase of the study, single-nucleotide variants (SNVs) were identified in the region on ECA X by whole genome sequencing (WGS) of 18 horses from the GWAS (9 cases and 9 controls). Five reference markers from the GWAS, two previously associated coat color loci (LP and PATN1), and 102 SNVs were further evaluated in a combined dataset of 157 horses (70 cases and 87 controls, including the original 96 horses from the GWAS). Using logistic regression, none of the SNVs identified from the WGS analysis were significantly associated with phenotype; however, LP and the top three SNP markers from ECA X (ECA X: 14.5 Mb) were significantly associated in the larger dataset (P<sub>LP</sub> = 2.34 × 10<sup>-6</sup> and P<sub>X</sub> = 4.06 × 10<sup>-5</sup>).</p><p><strong>Conclusion: </strong>In addition to the LP locus, our investigation identified a locus on chromosome X with a significant association to insidious uveitis in Appaloosas. Replication testing in an independent cohort is necessary to determine if this locus is indeed a causal risk locus.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"904"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMC GenomicsPub Date : 2025-10-09DOI: 10.1186/s12864-025-12088-6
Jonathan R Belyeu, William J Rowell, Juniper A Lake, James Matthew Holt, Zev Kronenberg, Christopher T Saunders, Michael A Eberle
{"title":"Complex structural variant visualization with SVTopo.","authors":"Jonathan R Belyeu, William J Rowell, Juniper A Lake, James Matthew Holt, Zev Kronenberg, Christopher T Saunders, Michael A Eberle","doi":"10.1186/s12864-025-12088-6","DOIUrl":"10.1186/s12864-025-12088-6","url":null,"abstract":"<p><strong>Background: </strong>Structural variants are genomic variants that impact at least 50 nucleotides. Structural variants can play major roles in diversity and human health. Many structural variants are difficult to interpret and understand with existing visualization tools, especially when comprised of inverted sequences or multiple breakend pairs.</p><p><strong>Results: </strong>We present SVTopo, a tool to visualize germline structural variants with supporting evidence from high-accuracy long reads in easily understood figures. We include examples of 101 visually complex structural variants from seven unrelated human genomes, manually assigned to ten categories. These demonstrate a broad spectrum of rearrangement and showcase the frequency of complex structural variants in human genomes.</p><p><strong>Conclusions: </strong>SVTopo shows breakpoint evidence in ways that aid reasoning about the impact of multi-breakpoint rearrangements. The images created aid human reasoning about the result of structural variation on gene and regulatory regions.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"903"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The genetic influence of sex on gene expression for blood in pigs.","authors":"Qing Lin, Junxiong Huang, Tianru Zhou, Teddy Tinashe Chitotombe, Jinyan Teng, Jiaqi Li","doi":"10.1186/s12864-025-12029-3","DOIUrl":"10.1186/s12864-025-12029-3","url":null,"abstract":"<p><strong>Background: </strong>Pigs are one of the most important farm animals in the agrifood industry. Many complex traits and patterns of gene expression exhibit sexual dimorphisms in pigs. However, the impact of sex on gene expression remains poorly understood.</p><p><strong>Results: </strong>In this study, we utilized the gene expression data of blood tissue derived from PigGTEx project to explore the genetic influence of sex on gene expression in pigs. Differential gene expression analysis identified 116 male-biased and 248 female-biased genes. Sex-combined and sex-stratified cis-heritability (cis-h<sup>2</sup>) were highly positively correlated, while the low correlation were observed between male-stratified and female-stratified cis-h<sup>2</sup>. Sex-interaction expression quantitative trait locus (eQTL) mapping identified 16 genes with at least one sex-biased eQTL (sb-eGenes) in blood, including 7 female-specific eGenes and 4 male-specific eGenes. Notable examples included the immunology-associated male-specific eGene SLC4A1 and the female-specific eGene PRR14, illustrating sex-specific regulation of gene expression in blood. We further found that sb-eGenes were associated with various complex traits through distinct genetic regulation mechanisms. For example, the male-specific gene SLC4A1 was associated with average daily gain with the identical effect, while the female-specific gene MFGE8 exhibited opposite effect.</p><p><strong>Conclusions: </strong>This study revealed sex-biased gene expression patterns and sex-dependent regulatory effect of gene expression of blood tissues in pigs. Additionally, this study found the sexually dimorphic regulation of gene expression underlying complex traits. These findings provided a comprehensive insight and resource and advance our understanding of sexual dimorphism in genetic mechanism underlying complex traits in blood.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"899"},"PeriodicalIF":3.7,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12512681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}