BMC Genomics最新文献

{"title":"Integrated analysis of tyrosine-induced MiRNA and mRNA expression profiles in melanocytes reveals the regulatory role of miR-1560-3p in melanin deposition in Xichuan black-bone chickens.","authors":"Zhiyuan Zhang, Pengwei Zhang, Fumin He, Yingdong Hou, Xiaowen Geng, Ruilong Xu, Ruiting Li, Yadong Tian, Wenting Li, Guirong Sun, Ruirui Jiang, Xiaojun Liu, Ruili Han, Guoxi Li, Xiangtao Kang, Donghua Li","doi":"10.1186/s12864-025-11543-8","DOIUrl":"10.1186/s12864-025-11543-8","url":null,"abstract":"<p><strong>Background: </strong>Tyrosine is a prerequisite for melanin biosynthesis and plays a crucial role in the growth and development of melanocytes, but the underlying mechanism is still unclear. In our previous research, we added 10^- 9-10^- 6 mol/L tyrosine to the melanocytes of black-bone chickens and found that 10^- 6 mol/L tyrosine significantly increased the tyrosinase content in melanocytes.</p><p><strong>Methods: </strong>In this study, melanocytes from Xichuan black-bone chickens were used as research objects, 10^- 6 mol/L tyrosine was added for transcriptome sequencing. By analyzing miRNA and mRNA expression profiles, the miRNA-mRNA network was constructed, the targeting relationship was demonstrated by double luciferase reporting experiments, and the influence of tyrosine-mediated miRNA-mRNA network on melanin deposition was verified by constructing overexpression and interference vectors.</p><p><strong>Results: </strong>We found that tyrosine promoted the proliferation and migration of melanocytes, and expression profile analysis identified 57 differentially expressed mRNAs (DEGs) and 19 differentially expressed miRNAs (DEMs). Fifty miRNA‒mRNA target gene pairs were identified via coexpression network analysis of the DEGs and the DEMs that were predicted to target various genes. Notably, VIP gene was reported to be involved in the development and deposition of melanoma cells. The binding of VIP to miR-1560-3p was further validated by a dual-luciferase reporter assay. In addition, test confirmed that miR-1560-3p inhibited the proliferation and migration of melanocytes and reduced the tyrosinase content. In conclusion, we found that tyrosine may affects melanin deposition in Xichuan black-bone chickens by affecting the miR-1560-3p-VIP axis. The results of this study provide experimental evidence for elucidating the mechanism of tyrosine in melanin deposition in black-bone chickens, and may serve as a reference for future investigations.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"348"},"PeriodicalIF":3.5,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CGLoop: a neural network framework for chromatin loop prediction.","authors":"Junfeng Wang, Lili Wu, Jingjing Wei, Chaokun Yan, Huimin Luo, Junwei Luo, Fei Guo","doi":"10.1186/s12864-025-11531-y","DOIUrl":"10.1186/s12864-025-11531-y","url":null,"abstract":"<p><strong>Background: </strong>Chromosomes of species exhibit a variety of high-dimensional organizational features, and chromatin loops, which are fundamental structures in the three-dimensional (3D) structure of the genome. Chromatin loops are visible speckled patterns on Hi-C contact matrix generated by chromosome conformation capture methods. The chromatin loops play an important role in gene expression, and predicting the chromatin loops generated during whole genome interactions is crucial for a deeper understanding of the 3D genome structure and function.</p><p><strong>Results: </strong>Here, we propose CGLoop, a deep learning based neural network framework that detects chromatin loops in Hi-C contact matrix. CGLoop combines the convolutional neural network (CNN) with Convolutional Block Attention Module (CBAM) and the Bidirectional Gated Recurrent Unit (BiGRU) to capture important features related to chromatin loops by comprehensively analyzing the Hi-C contact matrix, enabling the prediction of candidate chromatin loops. And CGLoop employs a density based clustering method to filter the candidate chromatin loops predicted by the neural network model. Finally, we compared CGloop with other chromatin loops prediction methods on several cell line including GM12878, K562, IMR90, and mESC. The code is available from https://github.com/wllwuliliwll/CGLoop .</p><p><strong>Conclusions: </strong>The experimental results show that, loops predicted by CGLoop show high APA scores and there is an enrichment of multiple transcription factors and binding proteins at the predicted loops anchors, which outperforms other methods in terms of accuracy and validity of chromatin loops prediction.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"342"},"PeriodicalIF":3.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787805","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":"RNA-Seq analysis reveals the long noncoding RNAs associated with immunity in wild Myotis myotis bats.","authors":"Sebastien Riquier, Samuel Carthy, Graham M Hughes, Frederic Touzalin, Wilfried Haerty, Zixia Huang, Emma C Teeling","doi":"10.1186/s12864-025-11485-1","DOIUrl":"10.1186/s12864-025-11485-1","url":null,"abstract":"<p><strong>Background: </strong>Bats possess a uniquely adapted immune system that enables them to live with viral infections without the expected maladies. The molecular basis and regulation of bats' immune response is still not fully understood. Long non-coding RNAs (lncRNAs) represent an emerging class of molecules with critical regulatory roles in multiple biological processes, including immunity. We hypothesise that lncRNA-based regulation in bats may enable them to limit disease and live with viral pathogens.</p><p><strong>Results: </strong>We developed a lncRNA prediction pipeline to annotate the long non-coding transcriptome across multiple bat tissues and at the population level. Characterisation of our lncRNA dataset based on 100 blood transcriptomes from wild Myotis myotis bats revealed lower and more tissue-specific expression compared with coding genes, reduced GC content and shorter length distributions, consistent with lncRNA profiles observed in other species. Using WGCNA network analyses and gene ontology, we identified two mRNA-lncRNA co-expression modules in Myotis myotis associated with distinct immune response: one linked to T-cell activation and vial processes, and the other to inflammation. From these immune-related lncRNAs, we selected four candidates with high translational potential for regulating viral infections and inflammation. These include a newly identified lncRNA, BatLnc1, with potential antiviral functions; the M. myotis ortholog of TUG1, implicated in viral-host interactions; and well-known lncRNAs MALAT1 and NEAT1, recognised for their roles in inflammatory regulation.</p><p><strong>Conclusions: </strong>We conducted the first ab initio prediction of lncRNAs in a non-model bat species, the wild-caught M. myotis. Our network analysis revealed significant variation in immune status among a subset of individuals, potentially due to pathogenic conditions. From these variations, we identified lncRNAs most likely associated with immune response in bats. This initial exploration lays the groundwork for future experimental validations of lncRNA functions, offering promising insights into their role in bat immunity.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"345"},"PeriodicalIF":3.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787808","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 first complete mitochondrial genome of Curcuma amarissima (Zingiberaceae): insights into multi-branch structure, codon usage, and phylogenetic evolution.","authors":"Heng Liang, Jiabin Deng, Yidan Wang, Gang Gao, Ruiwu Yang","doi":"10.1186/s12864-025-11540-x","DOIUrl":"10.1186/s12864-025-11540-x","url":null,"abstract":"<p><strong>Background: </strong>As a key genus in Zingiberaceae, Curcuma is widely studied for its taxonomic diversity, the presence of bioactive curcuminoids and volatile oils, and its extensive applications in traditional medicine and economic products such as spices and cosmetics. Although chloroplast genomes have been assembled and published for over 20 Curcuma species, mitochondrial genomic data remain limited.</p><p><strong>Results: </strong>We successfully sequenced, assembled, and annotated the mitogenome of Curcuma amarissima (C. amarissima) using both Illumina short reads and Nanopore long reads, achieving the first complete mitogenome characterization in the Zingiberaceae family. The C. amarissima mitogenome features a unique multi-branched structure, spanning 6,505,655 bp and consisting of 39 distinct segments. It contains a total of 43 protein-coding genes, 63 tRNA genes, and 4 rRNA genes, with a GC content of 44.04%. Codon usage analysis indicated a weak bias, with neutrality plot analysis suggesting natural selection as a key factor shaping mitochondrial codon usage in C. amarissima. The mitogenome provides valuable insights into genome size, coding genes, structural features, RNA editing, repetitive sequences, and sequence migration, enhancing our understanding of the evolution and molecular biology of multi-branched mitochondria in Zingiberaceae. The high frequency of repeat sequences may contribute to the structural stability of the mitochondria. Comparing chloroplast genome, phylogenetic analysis based on the mitochondrial genome establishes a foundation for further exploration of evolutionary relationships within Zingiberaceae.</p><p><strong>Conclusions: </strong>In short, the mitochondrial genome characterized here advances our understanding of multi-branched mitogenome organization in Zingiberaceae and offers useful genomic resources that may support future breeding, germplasm conservation, and phylogenetic studies, though further research is necessary.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"343"},"PeriodicalIF":3.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787811","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":"Genomic insights and epidemiology of mcr-1-Carrying Escherichia albertii isolated from agricultural soil in China.","authors":"Yu Yang, Wenhong Liu, Zanzan Zhao, Kexin Guo, Xinrui Wang, Zhenghao Lou, Xiaolu Yang, Lu Gong, Kun Wang, Xiaojing Liu, Hao Xu, Qiyu Liu, Beiwen Zheng, Xiawei Jiang","doi":"10.1186/s12864-025-11493-1","DOIUrl":"10.1186/s12864-025-11493-1","url":null,"abstract":"<p><strong>Background: </strong>Polymyxins are critical in treating multidrug-resistant Gram-negative bacteria infections, yet their overuse has spurred the emergence of polymyxin-resistant pathogens globally. This study aims to analyze the genomic characteristics of the Escherichia albertii strain 6S-65-1 carrying the mcr-1 gene and to investigate the global epidemiology of mcr-1-carrying E. albertii strains.</p><p><strong>Results: </strong>In this study, we identified and analyzed a polymyxin-resistant Escherichia albertii strain (6S-65-1) carrying the mcr-1 gene, isolated from agricultural soil in China. Whole-genome sequencing and comparative genomic analyses revealed two chromosomal integrations of the mcr-1 gene within Tn6330 transposon structures, indicating its capacity for horizontal gene transfer. Strain 6S-65-1 also harbors other antimicrobial resistance genes, including tet(A), sul3, and aph (3')-Ia, enhancing its resistance profile. Comparative genomic analysis of E. albertii genomes in the NCBI database revealed that mcr-1-carrying E. albertii strains are geographically restricted to China and Japan, and have been isolated from both animals and humans. Phylogenetic analysis revealed that strain 6S-65-1 was most closely related to a human-derived strain from Japan (SAMD00164101), with both strains carried virulence genes (cdt, paa, and eae) that enable them to form attaching and effacing (A/E) lesions. Among all publicly available ST4619 E. albertii genomes, strain 6S-65-1 is the first to carry the mcr-1 gene.</p><p><strong>Conclusion: </strong>Our findings offer new insights into the epidemiology and genomic features of mcr-1-carrying E. albertii, underscoring the need for targeted management strategies to curb its spread. These findings underscore the importance of \"One Health\" approaches to antimicrobial resistance, which require coordinated efforts across human, animal and the environmental health sectors.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"344"},"PeriodicalIF":3.5,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11972489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787806","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":"scTCR-seq and HTS reveal a special novel TRBD2-TRBJ1 rearrangement in mammalian TRB CDR3 repertoire.","authors":"Yingjie Wu, Fengli Wu, Jun Li, Hao Zhou, Long Ma, Xinsheng Yao","doi":"10.1186/s12864-025-11506-z","DOIUrl":"10.1186/s12864-025-11506-z","url":null,"abstract":"<p><p>Mammalian T cell receptor (TCR) beta-chain (TRB) V-D-J rearrangement mainly follows the \"12/23 rule\", and the \"D-J rearrangement preceding the V-(D-J) rearrangement\". Owing to the physical position of the D-J-C cluster in the TRB locus, the TRBD2 (D2) gene cannot directly perform inversional rearrangement or deletional/loop-out rearrangement with the TRBJ1 (J1) gene. Our previous studies revealed a single reverse TRBV30 (TRBV31 in mice) gene in the mammalian TRB locus, which can cause indirect rearrangement of the D2 gene and J1 gene; however, the mechanism and proportion involved in germline gene rearrangement are unknown. We obtained TRB CDR3 repertoires of thymus and peripheral tissues from humans and mice by HTS and scTCR-seq and found that 14% of the rearrangements in which the D2 gene is involved are D2-J1 rearrangements (D2-J2 rearrangements account for approximately 86%). The mechanism is that the reverse V30 gene preferentially performs inversional rearrangement with the D2 gene (V30-D2), leading to V30-D2-J1 rearrangement in humans, or the reverse V30 gene preferentially performs inversional rearrangement with the D1 gene (V30-D1), allowing the forward V genes (Vx) to perform Vx-D2-J1 rearrangement. We further found that D2-J1 rearrangements were present in more than 24% and more than 15% of the D2 gene rearrangements in rhesus monkeys and bats, respectively. Moreover, in bovine containing D1J1C1, D3J3C3, and D2J2C2 clusters, more than 11% D3-J1 and D2-J1 rearrangements and more than 22% D2-J3 rearrangements were found. This study provides a new perspective and feasible solution for further research on the significance of the special V-D-J recombination pattern in the mammalian TRB locus and the CDR3 repertoire formed by D2-J1 rearrangement.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"341"},"PeriodicalIF":3.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787809","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":"Substantial structural variation and repetitive DNA content contribute to intraspecific plastid genome evolution.","authors":"Alfredo López-Caamal, Tyler Gandee, Laura F Galloway, Karen B Barnard-Kubow","doi":"10.1186/s12864-025-11525-w","DOIUrl":"10.1186/s12864-025-11525-w","url":null,"abstract":"<p><strong>Background: </strong>Plastids have highly conserved genomes in most land plants. However, in several families, plastid genomes exhibit high rates of nucleotide substitution and structural rearrangements among species. This elevated rate of evolution has been posited to lead to increased rates of plastid-nuclear incompatibilities (PNI), potentially acting as a driver of speciation. However, the extent to which plastid structural variation exists within a species is unknown. This study investigates whether plastid structural variation, observed at the interspecific level in Campanulaceae, also occurs within Campanula americana, a species with strong intraspecific PNI. We assembled multiple plastid genomes from three lineages of C. americana that exhibit varying levels of PNI when crossed. We then investigated the structural variation and repetitive DNA content among these lineages and compared the repetitive DNA content with that of other species within the family.</p><p><strong>Results: </strong>We found significant variation in plastid genome size among the lineages of C. americana (188,309-201,788 bp). This variation was due in part to multiple gene duplications in the inverted repeat region. Lineages also varied in their repetitive DNA content, with the Appalachian lineage displaying the highest proportion of tandem repeats (~ 10%) compared to the Eastern and Western lineages (~ 6%). In addition, genes involved in transcription and protein transport showed elevated sequence divergence between lineages, and a strong correlation was observed between genome size and repetitive DNA content. Campanula americana was found to have one of the most repetitive plastid genomes within Campanulaceae.</p><p><strong>Conclusions: </strong>These findings challenge the conventional view of plastid genome conservation within a species and suggest that structural variation, differences in repetitive DNA content, and divergence of key genes involved in transcription and protein transport may play a role in PNI. This study highlights the need for further research into the genetic mechanisms underlying PNI, a key process in the early stages of speciation.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"340"},"PeriodicalIF":3.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11971791/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787810","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":"Transcriptome profiles of blastocysts originating from oocytes matured in follicular fluid from preovulatory follicles of greater or lesser maturity.","authors":"Allyson E Stokes, Hannah M Clark, J Lannett Edwards, Rebecca R Payton, Jon E Beever, Trevor F Freeman, Emma A Hessock, F Neal Schrick, Sarah E Moorey","doi":"10.1186/s12864-025-11521-0","DOIUrl":"10.1186/s12864-025-11521-0","url":null,"abstract":"<p><strong>Background: </strong>Oocyte competence for early embryo development relies on intercellular communication between the maturing oocyte and preovulatory follicle. Preovulatory follicle maturity, as indicated by serum estradiol concentration or follicle diameter, has previously been linked to pregnancy, follicular fluid metabolites, cumulus-oocyte metabolism, and oocyte competency for embryo development. Such relationships indicate metabolic and developmental programming of the oocyte based on the preovulatory follicle's physiological status, but downstream impacts on the molecular signature of blastocysts have not been examined. We hypothesized that supplementing maturing oocytes with follicular fluid originating from preovulatory follicles of greater or lesser maturity would impact the transcriptome of resulting blastocysts and indicate metabolic programming of the embryo that originated from the oocyte's maturation environment. The objective was to investigate the effect of follicle maturity on the oocyte by examining the transcriptome of blastocysts originating from oocytes matured in the presence of follicular fluid from preovulatory follicles of greater or lesser maturity.</p><p><strong>Results: </strong>In vitro maturing oocytes were supplemented with follicular fluid collected from preovulatory follicles of greater or lesser maturity. Following identical embryo culture procedures, RNA-sequencing was performed on pools of 2 blastocysts (Greater, n = 12; Lesser, n = 15; all with stage code = 7 and quality code = 1). A total of 12,310 genes were identified in blastocysts after filtering to remove lowly abundant genes. There were 113 genes that differed in expression between blastocysts originating from oocytes matured in greater versus lesser maturity follicular fluid (eFDR < 0.01). Although no pathways were significantly enriched with differentially expressed genes, transcriptome profiles suggested improved Wnt/β-catenin signaling, metabolism, and protection from oxidative stress in blastocysts derived from oocytes matured in greater maturity follicular fluid, while potential unregulated cell growth presented in blastocysts resulting from the lesser follicle maturity treatment.</p><p><strong>Conclusions: </strong>Follicular fluid from preovulatory follicles of greater physiological maturity may better prepare maturing oocytes for early embryo development. Furthermore, oocytes matured in follicular fluid from preovulatory follicles of lesser maturity may attempt to overcompensate for nutrient deficit during oocyte maturation, leading to uncontrolled cellular growth and increased oxidative stress.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"339"},"PeriodicalIF":3.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787812","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":"Identification and characterization of the tumor necrosis factor receptor superfamily in the Chinese tree shrew (Tupaia belangeri chinensis).","authors":"Zongjian Huang, Nan Shi, Zhenqiu Luo, Fangfang Chen, Xunwei Feng, Yongjing Lai, Jian Li, Xiang Yi, Wei Xia, Anzhou Tang","doi":"10.1186/s12864-025-11451-x","DOIUrl":"10.1186/s12864-025-11451-x","url":null,"abstract":"<p><p>The tumor necrosis factor receptor superfamily (TNFRSF) plays a vital role in eliciting immune responses against infections. The tree shrew, closely related to primates, is often utilized in human disease models. Here, we analyzed TNFRSF members from 11 different animal species, including the Chinese tree shrew, and identified 24 tree shrew TNFRSF (tTNFRSF) genes, which were grouped into seven subcategories with similar motifs, sequences, and gene structures. As expected, the multi-species collinearity analysis revealed that tTNFRSF genome bears a greater resemblance to humans than to mice. Transcriptome data from 28 samples across ten organ types showed high TNFRSF expression predominantly in immune organs. It was seen that TNFRSF13C co-expresses consistently with the B cell surface marker CD79A, which is consistent with its characteristics in humans. The tissue distribution and co-expression were confirmed via RT-qPCR and immunofluorescence. Evaluation of transcriptome data from 70 samples infected with six types of viruses showed that most TNFRSF genes were upregulated in tree shrew post-viral infection. TNFRSF exerts antiviral function most probably through the activation of the NF-κB pathway, subsequently causing apoptosis of infected cells. Our findings provide evolutionary and functional insights into tTNFRSF, indicating its potential utility in human viral infection models.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"338"},"PeriodicalIF":3.5,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11969777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143787807","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":"Unlocking the genetic code: a comprehensive Genome-Wide association study and gene set enrichment analysis of cell-mediated immunity in chickens.","authors":"Somayeh Kianpoor, Alireza Ehsani, Rasoul Vaez Torshizi, Ali Akbar Masoudi, Mohammad Reza Bakhtiarizadeh","doi":"10.1186/s12864-025-11538-5","DOIUrl":"10.1186/s12864-025-11538-5","url":null,"abstract":"<p><strong>Background: </strong>The poultry immune system is essential for protecting against infectious diseases and maintaining health and productivity. Cell-mediated immune responses (CMIs) protect organisms against intracellular pathogens. This study aimed to enrich the findings of genome-wide association studies (GWAS) by including several systematic gene set enrichment analyses (GSEA) related to cell-mediated immune responses in chickens.</p><p><strong>Methods: </strong>To investigate the function of the cellular immune system, phenotypic data were collected based on the differences in skin thickness before and after impregnation with dinitrochlorobenzene (DNCB) solution. Additionally, 312 hybrid birds of the F2 generation of Arian broiler chickens and Urmia native chickens were genotyped using the Illumina 60k SNP BeadChip. A general linear model (GLM) with an FDR < 5% was used for the association analysis. Functional enrichment analysis of the identified candidate genes was performed using the Enrichr database. A protein‒protein interaction (PPI) network was constructed using the STRING database. In addition, colocalization analysis was applied to identify QTLs related to the immune system.</p><p><strong>Results: </strong>GWAS revealed 147 SNPs associated with the CMI trait, which were related to 1363 genes. These genes were significantly enriched in eight KEGG pathways, 22 Reactome pathways, and 18 biological processes. PPI network analysis led to the identification of 26 hub genes. The three hub genes PSMA3, PSMC2 and PSMB4 were enriched in almost all pathways related to cellular immunity, including the proteasome, interleukin-1 signaling, and programmed cell death pathways, which makes them important candidates involved in CMI. In addition, the MAP3K8, NLRC5, UBB, CASP6, DAPK2, TNFRSF6B, TNFSF15, and PIK3CD genes were identified as key genes in several functional pathways. A total of 10 SNPs were found in interferon-gamma QTLs, and two SNPs were found in the cell-mediated immune response QTL region, leading to the identification of 12 cellular immune response-related genes that were reported as important candidates in previous studies.</p><p><strong>Conclusion: </strong>The post-GWAS analysis in this study led to the identification of key genes that regulate the biological processes of cellular immunity in chickens. Therefore, selecting birds that excel in expressing such genes can improve immunity in chickens.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"337"},"PeriodicalIF":3.5,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970016/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143778869","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}