BMC Genomics最新文献

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Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats. 全基因组测序揭示了天府山羊色素斑大小相关的主要基因座的复杂结构变异。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-29 DOI: 10.1186/s12864-025-12055-1
Jiazhong Guo, Qingsi Huang, Qiunan Xiang, Guo Wu, Peipei Bian, Xihong Wang, Li Li, George E Liu, Hongping Zhang
{"title":"Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats.","authors":"Jiazhong Guo, Qingsi Huang, Qiunan Xiang, Guo Wu, Peipei Bian, Xihong Wang, Li Li, George E Liu, Hongping Zhang","doi":"10.1186/s12864-025-12055-1","DOIUrl":"10.1186/s12864-025-12055-1","url":null,"abstract":"<p><strong>Background: </strong>Coat color is one of the most easily recognizable appearance traits used to discriminate livestock breeds and individuals. This study investigated the genetic loci and candidate genes affecting pigmented spots in Tianfu (TF) goats.</p><p><strong>Results: </strong>The pigmented spot scores in 96 TF goats ranged from 0.20 to 3.95. Whole-genome sequencing identified 15,132,291 bi-allelic autosomal SNPs in these animals. Linear mixed-model analyses identified a major locus near the EDNRA gene on chromosome 17 and a second strong association signal on chromosome 4. Annotation of short variants within the major locus revealed no apparent causal mutations. Further analysis of short-read data revealed a complex genomic rearrangement spanning ~ 1.1 Mb in TF goats, primarily comprising one inverted duplication, one direct duplication, and two deletion events. These structural variations (SVs) were validated using PacBio HiFi sequencing data from Boer goats, one of the parental breeds of TF goats. Among the SVs, an 83,630-bp inverted duplication approximately 80 kb upstream of EDNRA showed the strongest association with the phenotype, as demonstrated by a univariate model in which this duplication explained 30.99% of the phenotypic variation. In silico analysis revealed that this duplication contains putative binding sites for pigmentation-related transcription factors, including MITF and PAX3. Furthermore, this inverted duplication, combined with the lead SNP on chromosome 4, accounted for 55.79% of the phenotypic variation.</p><p><strong>Conclusion: </strong>We identified a genomic region with complex SVs near EDNRA on chromosome 17 as a major locus influencing pigmented spot sizes in TF goats. We further pinpointed the causal mutations to an approximately 80-kb inverted duplication. Additionally, we detected a strong secondary association signal on chromosome 4. Our findings deepen the understanding of genetic variations underlying pigmentation in goats and provide valuable insights for selective breeding and conservation efforts.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"848"},"PeriodicalIF":3.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190825","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}
引用次数: 0
MWENA: a novel sample re-weighting-based algorithm for disease classification and data interpretation using extracellular vesicles omics data. MWENA:一种基于样本重加权的新型算法,用于疾病分类和使用细胞外囊泡组学数据的数据解释。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-29 DOI: 10.1186/s12864-025-12093-9
Shuilin Liao, Haonan Long, Qi Zhu, Shoujiang Li, Le Li, Shanghui Lu, Nan Tang, Yong Liang, Ming Dong
{"title":"MWENA: a novel sample re-weighting-based algorithm for disease classification and data interpretation using extracellular vesicles omics data.","authors":"Shuilin Liao, Haonan Long, Qi Zhu, Shoujiang Li, Le Li, Shanghui Lu, Nan Tang, Yong Liang, Ming Dong","doi":"10.1186/s12864-025-12093-9","DOIUrl":"10.1186/s12864-025-12093-9","url":null,"abstract":"<p><strong>Background and objective: </strong>Extracellular vesicles (EVs), considered as a form of liquid biopsy, have gained significant attention in recent years due to their stability and the preservation of disease markers. Research studies underscore the clinical significance of molecules found in EVs, highlighting their role as communicative mediators between cells. However, analyzing this data is challenging due to noisy measurements, having far more variables than samples, and some groups (e.g., disease subtypes or experimental conditions) having much less data than others. We therefore develop an algorithm to address aforementioned challenges for the classification of imbalanced EVs omics data.</p><p><strong>Methods and results: </strong>We propose the EV Meta-Weight Elastic Net Algorithm (MWENA), which utilizes logistic regression with elastic net regularization for the classification and identification of EV signatures, effectively addressing the challenges posed by high-dimensional small sample sizes. To mitigate issues related to class imbalance and high noise levels, MWENA incorporates an automatic sample re-weighting function, which uses a meta-net to adaptively learn generalizable patterns directly from the data itself. We validate the MWENA algorithm on both simulated data and EVs omics data, covering six classification tasks that involve four different types of diseases (pancreatic ductal adenocarcinoma, interstitial lung diseases, colorectal cancer, and ovarian cancer) and three clinical scenarios (disease diagnosis, disease-stage screening, and disease-subtype classification). Compared to other machine learning methods, MWENA demonstrates superiority in identifying small class samples and achieves the highest scores in both sensitivity and G-means. Biological analysis is also performed to further explore the significance of selected signatures as biological markers and their roles in disease mechanisms.</p><p><strong>Conclusions: </strong>We anticipate that our proposed approach will take a modest step in harnessing EV omics data to discover biomarkers, aiding researchers in gaining a comprehensive understanding of biological processes.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"872"},"PeriodicalIF":3.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190834","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}
引用次数: 0
Characterization of the five Amanita complete mitochondrial genome and the phylogenetic relationship with other Amanita fungi. 五种金刚烟属真菌线粒体全基因组特征及其与其他金刚烟属真菌的系统发育关系。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-29 DOI: 10.1186/s12864-025-12103-w
Xianyi Wang, Guangyin Xu, Jiawei Tao, Guoyu Wang, Zhongyao Guo, Huangxue Luo, Guihong Li, Hongmei Liu, Chunying Deng, Yuanming Wu
{"title":"Characterization of the five Amanita complete mitochondrial genome and the phylogenetic relationship with other Amanita fungi.","authors":"Xianyi Wang, Guangyin Xu, Jiawei Tao, Guoyu Wang, Zhongyao Guo, Huangxue Luo, Guihong Li, Hongmei Liu, Chunying Deng, Yuanming Wu","doi":"10.1186/s12864-025-12103-w","DOIUrl":"10.1186/s12864-025-12103-w","url":null,"abstract":"<p><strong>Background: </strong>Amanita is a large genus of mushrooms with a rich biodiversity. It includes the world's most poisonous mushroom, which is responsible for 90% of mushroom-related fatalities. However, it is difficult to distinguish lethal and edible Amanita species because of their morphological similarities.</p><p><strong>Results: </strong>To identify molecular data and explore the phylogenetic relationships within Amanita, we sequenced and analyzed the mitochondrial genome (mitogenome) of five Amanita species and compared them with nine previously published Amanita mitogenomes. We analyzed the genomic structures, tandem repeats and gene rearrangements, introns, adenine-thymine (AT) skew, guanine-cytosine (GC) skew, and transfer RNAs (tRNAs) of the five Amanita species. Phylogenetic trees were constructed among 55 species from Agaricomycetes, including 14 species of Amanita, 39 species of Agaricales, and two outgroup species of Auriculariales, based on two different datasets (15 protein-encoding genes [PCGs] of amino acids and 15 PCGs of codons). Phylogenetic analysis revealed that the 14 Amanita species had consistent phylogenetic positions with the current phylogeny. Amanita was divided into three subgenera (subgenus Amanita, subgenus Amanitina, subgenus Lepidella). Moreover, the phylogenetic analysis confirmed that ectomycorrhizal and asymbiotic species clustered into different subgenera.</p><p><strong>Conclusions: </strong>We described the features of Amanita mitogenome, including the genomic structures, tandem repeats and the rearrangement of the PCGs related to classification status, which showed a different arrangement of genes and clear rearrangement with the introns between the ectomycorrhizal and asymbiotic. Finally, we proposed that the subordinate taxon of Amanita requires further revision. This study provides insights into the evolution and structural characteristics of the mitogenomes of macrofungal organisms.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"877"},"PeriodicalIF":3.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145190998","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}
引用次数: 0
A computational investigation into the role of tRNAs encoded by Shigella phage Sf14. 志贺氏菌噬菌体Sf14编码trna作用的计算研究。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-29 DOI: 10.1186/s12864-025-11998-9
Nykki D Ross, Sarah M Doore
{"title":"A computational investigation into the role of tRNAs encoded by Shigella phage Sf14.","authors":"Nykki D Ross, Sarah M Doore","doi":"10.1186/s12864-025-11998-9","DOIUrl":"10.1186/s12864-025-11998-9","url":null,"abstract":"<p><strong>Background: </strong>Bacteriophage Sf14 infects Shigella flexneri, a major foodborne pathogen that causes shigellosis outbreaks primarily in developing nations. It is a Moogle-like myovirus that encodes 26 tRNAs recognizing 19 different amino acids. The presence of tRNAs in phage genomes have been known for decades, but their functions are still poorly understood and appear to vary between species. This work uses computational methods to test several existing hypotheses regarding phage-encoded tRNAs in the context of Sf14 infection. Analyses of codon usage, tRNA adaptation, and tRNA mutation patterns were performed to test four hypotheses of phage tRNA function: codon usage bias, host range expansion, an all-destructive infection phenotype, and escape from host nucleases.</p><p><strong>Results: </strong>Data from these analyses excluded hypotheses of host range expansion and escape from host anticodon nucleases. Instead, results suggest phage-encoded tRNAs are likely used during late stages of infection, primarily increasing expression of structural genes. While there are significant differences in codon usage bias between Sf14 gene groups and S. flexneri 2457T, translational efficiency of Sf14 late genes (as estimated by tRNA adaptation index) is highest when using the phage tRNA pool only.</p><p><strong>Conclusions: </strong>The most likely hypothesis explaining the presence of tRNAs in the Sf14 genome is the possession of an all-destructive infection phenotype, where genes encoding host tRNAs are degraded along with the genome and translation relies heavily or exclusively on the phage tRNAs. The differences in codon usage also suggest phage-encoded tRNAs specifically affect the production of late gene products.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"858"},"PeriodicalIF":3.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191013","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}
引用次数: 0
Comparative analysis of metagenomics between high- and medium-temperature daqu, and microbial succession in Jiang-Nong Jianxiang Baijiu fermentation. 高、中温大曲的宏基因组学比较分析及江农健香白酒发酵微生物演替
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-29 DOI: 10.1186/s12864-025-12045-3
Lianbin Cao, Hongmei Sun, Yihan Wang, Zhaoyang Wei, Jianqiang Zhang, Yilin Wang, Jilai Yan, Yichang Zhu, Na Cheng, Simiao He, Xianghui Liu, Tongbiao Li, Mingcheng Wang, Enzhong Li
{"title":"Comparative analysis of metagenomics between high- and medium-temperature daqu, and microbial succession in Jiang-Nong Jianxiang Baijiu fermentation.","authors":"Lianbin Cao, Hongmei Sun, Yihan Wang, Zhaoyang Wei, Jianqiang Zhang, Yilin Wang, Jilai Yan, Yichang Zhu, Na Cheng, Simiao He, Xianghui Liu, Tongbiao Li, Mingcheng Wang, Enzhong Li","doi":"10.1186/s12864-025-12045-3","DOIUrl":"10.1186/s12864-025-12045-3","url":null,"abstract":"<p><strong>Background: </strong>The mixture of high-temperature Daqu and medium-temperature Daqu can be used to produce Chinese Jiang-Nong Jianxiang Baijiu. This study used metagenomic sequencing and physicochemical analysis to investigate the microbial community and functionality of high-temperature Daqu and medium-temperature Daqu. In addition, exploring the changes of microbial communities during the Jiang-Nong Jianxiang Baijiu fermentation process.</p><p><strong>Results: </strong>The results showed that Lichtheimia ramose and Saccharopolyspora rectivirgula were the significantly different species in high-temperature Daqu. However, Paecilomyces variotii, Aspergillus chevalieri, and Rasamsonia emersonii were the significantly different species in medium-temperature Daqu. The medium-temperature Daqu had higher saccharifying power (101.20 ± 1.85 U/g) than high-temperature Daqu (60.00 ± 0.58 U/g). And the protease activity of high-temperature Daqu (62.47 ± 5.84 U/mg) was significantly higher than medium-temperature Daqu (36.10 ± 1.13 U/mg). The community structure analysis results of the stack fermentation stage showed that the mixture of high-temperature Daqu and medium-temperature Daqu inherited the community advantages of both high-temperature Daqu and medium-temperature Daqu. With Jiang-Nong Jianxiang Baijiu fermentation, the significantly different species changed from Pichia sp., Acetobacter sp., and Lactobacillus sp. to Pediococcus sp., Lactobacillus sp., Lentilactobacillus sp., Saccharomyces sp., Thermoactinomyces sp., and Saccharopolyspora sp., implying the importance of acid-resistant and ethanol-resistant microorganisms for the production of flavor substances in the late Baijiu fermentation.</p><p><strong>Conclusions: </strong>Our research revealed the difference in microbial communities between high-temperature Daqu and medium-temperature Daqu, and demonstrated the shifts and functionality of microbiota during Jiang-Nong Jianxiang Baijiu fermentation. This study provides a theoretical reference for utilizing core synergistic microbiota and their functional traits in Baijiu fermentation starters to improve Baijiu quality.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"852"},"PeriodicalIF":3.7,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191018","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}
引用次数: 0
Automated environmental metagenomics using Oxford nanopore sequencing. 使用牛津纳米孔测序的自动化环境宏基因组学。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-26 DOI: 10.1186/s12864-025-11989-w
Harry T Child, Lucy Wierzbicki, Gabrielle R Joslin, Katherine Roper, Qiellor Haxhiraj, Richard K Tennant
{"title":"Automated environmental metagenomics using Oxford nanopore sequencing.","authors":"Harry T Child, Lucy Wierzbicki, Gabrielle R Joslin, Katherine Roper, Qiellor Haxhiraj, Richard K Tennant","doi":"10.1186/s12864-025-11989-w","DOIUrl":"10.1186/s12864-025-11989-w","url":null,"abstract":"<p><strong>Background: </strong>Long-read sequencing has revolutionised metagenomics through improved metagenome assembly, taxonomic classification and functional characterisation. Automation can enhance the throughput, reproducibility, and accuracy of library preparation. However, the validation of automated library preparation protocols remains undetermined for metagenomic workflows, which are particularly sensitive to methodological perturbation. Here, we compare long-read metagenomic sequencing of environmental samples through parallel manual and automated protocols.</p><p><strong>Results: </strong>Although automated library preparation led to minor reduction in read and contig lengths, taxonomic classification rate and alpha diversity was slightly higher than manual libraries, including the detection of more rare taxa. Despite this, no significant difference in microbial community structure was identified between manual and automated libraries.</p><p><strong>Conclusions: </strong>Despite minor differences in sequencing and classification metrics, automated and manual library preparation resulted in comparable characterization of environmental community metagenomes. These findings demonstrate the suitability of automation for high-throughput long-read metagenomics, with broad applicability to automated long-read sequencing for improved efficiency and reproducibility.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"835"},"PeriodicalIF":3.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465296/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173330","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}
引用次数: 0
Streptococcus anginosus of the urogenital tract: evidence of the same strain across anatomical sites of the same females. 泌尿生殖道的血管性链球菌:同一株女性解剖部位相同菌株的证据。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-26 DOI: 10.1186/s12864-025-11973-4
Helen Appleberry, Jennifer Garcia-Israel, Leah Boger, Swarnali Banerjee, Alan J Wolfe, Catherine Putonti
{"title":"Streptococcus anginosus of the urogenital tract: evidence of the same strain across anatomical sites of the same females.","authors":"Helen Appleberry, Jennifer Garcia-Israel, Leah Boger, Swarnali Banerjee, Alan J Wolfe, Catherine Putonti","doi":"10.1186/s12864-025-11973-4","DOIUrl":"10.1186/s12864-025-11973-4","url":null,"abstract":"<p><strong>Background: </strong>Streptococcus anginosus has been found to colonize multiple anatomical sites of the human body, including the oral cavity, gastrointestinal tract, skin, vagina, blood, and urinary tract. It is frequently isolated from catheterized urine samples obtained from adult females most often with lower urinary tract symptoms, but also on occasion from those without symptoms. Our prior genome analysis of 166 S. anginosus genomes identified two distinct groups, one - which we here call group Urinae - exhibits a tropism for the urinary tract.</p><p><strong>Results: </strong>Here we sequenced 100 isolates collected from different urogenital sites, including isolates from urine (both catheterized and voided) samples, urethral swabs, perineal swabs, vaginal swabs, and a foreskin swab. These sequenced isolates, as well as 15 isolates previously sequenced by our group, were collected from 50 unique individuals, with isolates from multiple anatomic sites for 26 of these individuals. The majority (89.57%) of the isolates were representatives of the Urinae group and were found in all sample types. Expanding our prior statistical method, we determined that, for 11 females, the same strain of Urinae was isolated from more than one of the urogenital sites.</p><p><strong>Conclusions: </strong>The identification of S. anginosus group Urinae strains from all urogenital sites sampled signifies that the tropism of this group is not restricted to the urinary tract. Rather, it seems to be a common constituent of the urogenital tract. The identification of the same strain shared across urogenital sample sites from the same individual suggests that the female urogenital sites in fact have interconnected microbiota.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"840"},"PeriodicalIF":3.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173567","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}
引用次数: 0
Identification of BoRR gene family in cauliflower: roles in curd development and salt tolerance. 菜花BoRR基因家族的鉴定:在凝乳发育和耐盐性中的作用。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-26 DOI: 10.1186/s12864-025-12005-x
Mengfei Song, Yusen Shen, Jiansheng Wang, Huifang Yu, Xiaoguang Sheng, Shuting Qiao, Honghui Gu
{"title":"Identification of BoRR gene family in cauliflower: roles in curd development and salt tolerance.","authors":"Mengfei Song, Yusen Shen, Jiansheng Wang, Huifang Yu, Xiaoguang Sheng, Shuting Qiao, Honghui Gu","doi":"10.1186/s12864-025-12005-x","DOIUrl":"10.1186/s12864-025-12005-x","url":null,"abstract":"<p><strong>Background: </strong>Cauliflower, as an important vegetable crop, the research on its curd formation mechanism and stress-responsive gene networks is of great significance for improving its quality, yield and abiotic stress tolerance. The response regulator (RR) gene family plays a crucial role in the regulation of various life processes of many organisms. In this research, a comprehensive analysis of the BoRR gene family in cauliflower was carried out.</p><p><strong>Results: </strong>A Total of 57 BoRR genes were identified in cauliflower and classified into seven subtypes (type A/B-I/B-II/B-IV/C/B-PRR/Clock PRR) based on sequence homology. Chromosomal mapping showed even distribution across genomes, while physicochemical analysis revealed diverse protein properties (134-915 amino acids, pI 4.51-9.19) with predominant nuclear localization. Structural analyses found all BoRR proteins contain REC-type domains, with subtype-specific features: type A has REC_typeA_ARR, type B harbors REC_typeB_ARR domains, and Clock PRR shows circadian-related psREC_RR domains. Exon numbers range from 2 to 10, with type A BoRR genes having shorter CDS lengths. Collinearity analysis identified 28 pairs of gene duplicates (26 inter-chromosomal). Comparative analysis showed 133 collinear pairs with Brassica napus, 96 with Brassica. rapa, and only 1 with monocots specie (rice and maize). Promoter analysis identified hormone-responsive motifs (ABRE, TGACG), development-related elements (ARE), and stress-responsive sequences (e.g., MBS for drought tolerance) in the promoters of BoRR genes. GO enrichment linked BoRR genes to phosphorelay signaling, cytokinin/ethylene response, and developmental processes like meristem maintenance. Expression profiling during curd development showed type A genes (BoRR23/27/34/38/45) up-regulated in vegetative-reproductive transition, BoRR3/6/12/32/54 in curd enlargement, and several genes like BoRR49 in flower bud differentiation. Salt stress (1.5% NaCl) induced transient expression in 8 of 9 selected BoRR genes at day 1 after treatment. qRT-PCR validated their roles in developmental regulation and salt tolerance.</p><p><strong>Conclusion: </strong>This study provides valuable insights into the BoRR gene family in cauliflower, laying a foundation for further understanding its genetic mechanisms and potentially guiding efforts to enhance curd quality and salt tolerance in cauliflower.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"834"},"PeriodicalIF":3.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173399","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}
引用次数: 0
Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing. 利用长读测序技术对Cacna1e剪接变体的潜在功能多样性进行编目。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-26 DOI: 10.1186/s12864-025-11887-1
Shamsuddin A Bhuiyan, John R Tyson, Manuel Belmadani, Jordan Sicherman, Terrance P Snutch, Paul Pavlidis
{"title":"Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing.","authors":"Shamsuddin A Bhuiyan, John R Tyson, Manuel Belmadani, Jordan Sicherman, Terrance P Snutch, Paul Pavlidis","doi":"10.1186/s12864-025-11887-1","DOIUrl":"10.1186/s12864-025-11887-1","url":null,"abstract":"<p><strong>Background: </strong>The degree to which alternative RNA splicing influences the function and structure of voltage gated calcium channel (VGCC) splice variants is poorly understood. Here we used long-read RNA-sequencing to catalog rat Cacna1e (Cav2.3) splice variants, and computationally prioritize which are likely to impact channel function.</p><p><strong>Result: </strong>We sequenced Cacna1e transcripts from rat thalamus using Oxford Nanopore sequencing yielding the structure of 2,110 Cacna1e splice variants. Of these, up to 154 had the potential encode for a functional channel based on predicted amino acid sequences. Our analysis revealed a total of 31 cassette splicing events (in various combinations) potentially affecting channel function, with three cassette exons appreciably expressed and conserved.</p><p><strong>Conclusion: </strong>Our work both provides the first long-read sequencing of Cacna1e and the first computational evaluation of Cacna1e splice variants for future follow-up. This overall strategy to provide the field with prioritized transcripts will improve our understanding of Cacna1e function, its role in disease pathophysiology, and serve as a general approach to evaluate splice variant function across multiple ion channel types.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"842"},"PeriodicalIF":3.7,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145173346","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}
引用次数: 0
Prenatal nicotine exposure induces epigenetic alterations in the Notch signaling genes in the proximal colon in rats. 产前尼古丁暴露诱导大鼠近端结肠Notch信号基因的表观遗传改变。
IF 3.7 2区 生物学
BMC Genomics Pub Date : 2025-09-26 DOI: 10.1186/s12864-025-11960-9
Ouzna Dali, Celine Heitz-Marchaland, Pierre-Yves Kernanec, Javier Carrion-Padilla, Baptiste Godin, Sergei Tevosian, Jasenka Zubcevic, Linda F Hayward, Fatima Smagulova
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