BMC Genomics最新文献

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The whole genome analysis of the wild-type and attenuated orf virus reveals that ORF022 facilitates viral replication. 野生型和减毒型口蹄疫病毒的全基因组分析表明,ORF022有利于病毒复制。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-15 DOI: 10.1186/s12864-025-11663-1
Tian Jing, Yunpeng Wang, Yukun Bu, Xi Chen, Shutong Feng, Wenbo Liu, Zhannur Niyazbekova, Dekun Chen, Xiaolong Gao, Wentao Ma
{"title":"The whole genome analysis of the wild-type and attenuated orf virus reveals that ORF022 facilitates viral replication.","authors":"Tian Jing, Yunpeng Wang, Yukun Bu, Xi Chen, Shutong Feng, Wenbo Liu, Zhannur Niyazbekova, Dekun Chen, Xiaolong Gao, Wentao Ma","doi":"10.1186/s12864-025-11663-1","DOIUrl":"10.1186/s12864-025-11663-1","url":null,"abstract":"<p><strong>Background: </strong>Contagious ecthyma is an acute infectious zoonosis caused by orf virus (ORFV). Live-attenuated ORFV vaccines have played a crucial role in preventing contagious ecthyma for decades. However, these vaccines often fail to induce long-lasting immunity. In recent years, numerous ORFV genome sequences have been published, yet genomic data for attenuated strains remain limited. Furthermore, no comprehensive whole-genome-based single nucleotide polymorphisms (SNPs) analysis has been conducted to compare ORFV wild-type and attenuated strains.</p><p><strong>Results: </strong>In this study, we performed whole-genome sequencing of ORFV wild-type and attenuated strains from Shaanxi Province. We identified two ORFV strains with genomes shorter than 130 kb, which are closely related to the SC1 attenuated strain from Sichuan Province. Additionally, we noticed that 24 genes in the attenuated strain had SNPs, with the highest number of mutations occurring in the ORF022 gene. The function of the ORF022 gene has not been previously reported. Through in vitro experiments, we demonstrated that overexpression of ORF022 enhances ORFV replication in cells. The RNA-sequencing analysis revealed that ORF022 modulates host inflammation-related signaling pathways, as evidenced by the suppression of TNF, IL-17, and Toll-like receptor signaling pathways.</p><p><strong>Conclusions: </strong>Our findings suggest that the ORF022 in ORFV wild-type strain inhibits the host inflammatory response, reduces the immune response to ORFV, and facilitates viral replication. SNP events in attenuated strains (aFX0910) are one of the reasons for its attenuation. Investigations into the genomic sequences of attenuated viruses and the functional impact of mutated genes provide valuable insights into the mechanisms underlying ORFV attenuation and offer a foundation for the development of more effective ORFV vaccines.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"488"},"PeriodicalIF":3.5,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075731","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
In-silico analysis of deleterious non-synonymous SNPs in the human AVPR1a gene linked to autism. 与自闭症相关的人类AVPR1a基因中有害的非同义snp的计算机分析。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-15 DOI: 10.1186/s12864-025-11655-1
Md Delowar Kobir Jibon, Md Asadul Islam, Md Eram Hosen, Md Omar Faruqe, Rashed Zaman, Uzzal Kumar Acharjee, Biswanath Sikdar, Yewulsew Kebede Tiruneh, Md Khalekuzzaman, Motasim Jawi, Magdi E A Zaki
{"title":"In-silico analysis of deleterious non-synonymous SNPs in the human AVPR1a gene linked to autism.","authors":"Md Delowar Kobir Jibon, Md Asadul Islam, Md Eram Hosen, Md Omar Faruqe, Rashed Zaman, Uzzal Kumar Acharjee, Biswanath Sikdar, Yewulsew Kebede Tiruneh, Md Khalekuzzaman, Motasim Jawi, Magdi E A Zaki","doi":"10.1186/s12864-025-11655-1","DOIUrl":"10.1186/s12864-025-11655-1","url":null,"abstract":"<p><p>Single nucleotide polymorphisms are the most prevalent type of DNA variation occurring at a single nucleotide within the genomic sequence. The AVPR1a gene exhibits genetic polymorphism and is linked to neurological and developmental problems, including autism spectrum disorder. Due to the difficulties of studying all non-synonymous single nucleotide polymorphisms (nsSNPs) of the AVPR1a gene in the general population, our goal is to use a computational approach to identify the most detrimental nsSNPs of the AVPR1a gene. We employed several bioinformatics tools, such as SNPnexus, PROVEAN, PANTHER, PhD-SNP, SNP & GO, and I-Mutant2.0, to detect the 23 most detrimental mutants (R85H, D202N, E54G, H92P, D148Y, C203G, V297M, D148V, S182N, Q108L, R149C, G212V, M145T, G212S, Y140S, F207V, Q108H, W219G, R284W, L93F, P156R, F136C, P107L). Later, we used other bioinformatics tools to perform domain and conservation analysis. We analyzed the consequences of high‑risk nsSNPs on active sites, post-translational modification (PTM) sites, and their functional effects on protein stability. 3D modeling, structure validation, protein-ligand binding affinity prediction, and Protein-protein docking were conducted to verify the presence of five significant substitutions (R284W, Y140S, P107L, R149C, and F207V) and explore the modifications induced due to these mutants. These non-synonymous single nucleotide polymorphisms can potentially be the focus of future investigations into various illnesses caused by AVPR1a malfunction. Employing in-silico methodologies to evaluate AVPR1a gene variants will facilitate the coordination of extensive investigations and the formulation of specific therapeutic approaches for diseases associated with these variations.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"492"},"PeriodicalIF":3.5,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075696","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 lncRNAs involved in the hair follicle cycle transition of cashmere goats in response to photoperiod change. 参与绒山羊毛囊周期变化响应光周期变化的lncrna的鉴定。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-15 DOI: 10.1186/s12864-025-11675-x
Min Yang, Yingying Li, Qianqian Liang, Huajiao Dong, Yuehui Ma, Göran Andersson, Erik Bongcam-Rudloff, Hafiz Ishfaq Ahmad, Xuefeng Fu, Jilong Han
{"title":"Identification of lncRNAs involved in the hair follicle cycle transition of cashmere goats in response to photoperiod change.","authors":"Min Yang, Yingying Li, Qianqian Liang, Huajiao Dong, Yuehui Ma, Göran Andersson, Erik Bongcam-Rudloff, Hafiz Ishfaq Ahmad, Xuefeng Fu, Jilong Han","doi":"10.1186/s12864-025-11675-x","DOIUrl":"10.1186/s12864-025-11675-x","url":null,"abstract":"<p><strong>Background: </strong>Cashmere goats, as one of the important domesticated animal species, are known for their high-quality fiber. The growth of cashmere has seasonal variations caused by photoperiodic changes, but the molecular genetic mechanisms underlying this phenotype including the functional role of long non-coding RNAs (lncRNA) is still poorly understood.</p><p><strong>Results: </strong>In this study, we analyzed the RNA-seq dataset of 39 Cashmere goat skin samples including all different growth stages and identified 1591 lncRNAs. These lncRNAs exhibited growth stage-specific expression patterns. Combining shortened light and hair follicle growth cycles, we found that 68% of differentially photo-responsive lncRNAs showed similar expression trends during transition phase I (early anagen to anagen phase). This suggests that the mechanism of light-controlled induction of hair follicles from early anagen to anagen is similar to that of transition phase I. According to weighted gene co-expression network analyses (WGCNA) analysis, it was found that two gene clusters and 10 hub lncRNAs participated in the transformation of hair follicle cycle, inducing hair follicles to enter the full growth phase in advance. These hub lncRNAs may regulate the development cycle of hair follicles through cis- or trans-regulation on clock genes, SLC superfamily genes, fibroblast growth factor genes.</p><p><strong>Conclusions: </strong>This study identified the key lncRNAs and target genes probably participating in the transformation of hair follicle cycle. This study will help further elucidate the role of lncRNAs in the hair follicle cycle and development.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"487"},"PeriodicalIF":3.5,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075725","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 multi-tissue and -breed catalogue of chromatin conformations and their implications in gene regulation in pigs. 猪多组织和品种染色质构象目录及其在基因调控中的意义。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-15 DOI: 10.1186/s12864-025-11490-4
Hongwei Yin, Qianyi Zhao, Liu Yang, Guoqiang Yi, Wenye Yao, Lingzhao Fang, Lijing Bai
{"title":"A multi-tissue and -breed catalogue of chromatin conformations and their implications in gene regulation in pigs.","authors":"Hongwei Yin, Qianyi Zhao, Liu Yang, Guoqiang Yi, Wenye Yao, Lingzhao Fang, Lijing Bai","doi":"10.1186/s12864-025-11490-4","DOIUrl":"10.1186/s12864-025-11490-4","url":null,"abstract":"<p><strong>Background: </strong>Topologically associating domains (TADs) are functional units that organize chromosomes into 3D structures of interacting chromatin, and play a crucial role in regulating gene expression by constraining enhancer-promoter contacts. Evidence suggests that deletion of TAD boundaries can lead to aberrant expression of neighboring genes. In our study, we analyzed high-throughput chromatin conformation capture (Hi-C) datasets from publicly available sources, integrating 71 datasets across five tissues in six pig breeds.</p><p><strong>Results: </strong>Our comprehensive analysis revealed 65,843 TADs in pigs, and we found that TAD boundaries are enriched for expression Quantitative Trait Loci (eQTL), splicing Quantitative Trait Loci (sQTL), Loss-of-Function variants (LoFs), and other regulatory variants. Genes within conserved TADs are associated with fundamental biological functions, while those in dynamic TADs may have tissue-specific roles. Specifically, we observed differential expression of the NCOA2 gene within dynamic TADs. This gene is highly expressed in adipose tissue, where it plays a crucial role in regulating lipid metabolism and maintaining energy homeostasis. Additionally, differential expression of the BMPER gene within dynamic TADs is associated with its role in modulating the activities of bone morphogenetic proteins (BMPs)-critical growth factors involved in bone and cartilage development.</p><p><strong>Conclusion: </strong>Our investigations have shed light on the pivotal roles of TADs in governing gene expression and even influencing traits. Our study has unveiled a holistic interplay between chromatin interactions and gene regulation across various tissues and pig breeds. Furthermore, we anticipate that incorporating markers, such as structural variants (SVs), and phenotypes will enhance our understanding of their intricate interactions.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"484"},"PeriodicalIF":3.5,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075641","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
Negative effect of seasonal heat stress on testis morphology and transcriptomes in Angora rabbit. 季节性热应激对安哥拉兔睾丸形态和转录组的负面影响。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11659-x
Haisheng Ding, Yuanlang Wang, Huiling Zhao, Jinzi Wang, Dongwei Huang
{"title":"Negative effect of seasonal heat stress on testis morphology and transcriptomes in Angora rabbit.","authors":"Haisheng Ding, Yuanlang Wang, Huiling Zhao, Jinzi Wang, Dongwei Huang","doi":"10.1186/s12864-025-11659-x","DOIUrl":"https://doi.org/10.1186/s12864-025-11659-x","url":null,"abstract":"<p><strong>Background: </strong>The temperature of testes exposed to hyperthermic conditions can affect livestock reproductive performance. This study aimed to explore the difference in semen quality, testicular morphological structure, and gene expression profiles of testes of Angora rabbits in spring (no heat stress), summer (intense heat stress), and autumn (no heat stress) seasons.</p><p><strong>Results: </strong>Heat stress during summer significantly reduced semen quality and damaged testicular morphology and spermatogenesis, which recovered to normal levels in autumn, although semen quality recovery was notably slow. RNA-Seq analysis showed that the expression levels of 8703 genes changed significantly in summer, but their expression levels in autumn returned to those in spring, which was consistent with the testicular morphology analysis results in different seasons. Enrichment analysis revealed that the DEGs were primarily associated with spermatogenesis, sperm motility, spermatid development, cell death, regulation of apoptotic processes, and responses to external stimuli. The MAPK, Rap1, TNF, Ras, Apoptosis, and Wnt signaling pathways regulated reproduction under heat stress. In addition, minimal variations in testicular morphology and gene expression profiles were observed between autumn and spring. Gene expression pattern analysis showed that genes with high expression in summer mainly participated in the regulation of cell apoptosis, immunity, and response to heat stress, whereas genes with low expression in summer mainly participated in the regulation of spermatogenesis.</p><p><strong>Conclusions: </strong>This study investigated the influence of different seasons on the reproductive performance of male Angora rabbits and provided initial insights into the molecular regulatory mechanisms underlying the testicular response to heat stress during summer.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"478"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075772","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
Genomic structure of yellow lupin (Lupinus luteus): genome organization, evolution, gene family expansion, metabolites and protein synthesis. 黄豆(Lupinus luteus)的基因组结构:基因组组织、进化、基因家族扩展、代谢产物和蛋白质合成。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11678-8
J Eduardo Martinez-Hernandez, Haroldo Salvo-Garrido, Daniela Levicoy, Peter D S Caligari, Annally Rupayán, Tomas Moyano, Makarena Carrasco, Sebastián Hernandez, Grace Armijo-Godoy, Fernando Westermeyer, Giovanni Larama
{"title":"Genomic structure of yellow lupin (Lupinus luteus): genome organization, evolution, gene family expansion, metabolites and protein synthesis.","authors":"J Eduardo Martinez-Hernandez, Haroldo Salvo-Garrido, Daniela Levicoy, Peter D S Caligari, Annally Rupayán, Tomas Moyano, Makarena Carrasco, Sebastián Hernandez, Grace Armijo-Godoy, Fernando Westermeyer, Giovanni Larama","doi":"10.1186/s12864-025-11678-8","DOIUrl":"https://doi.org/10.1186/s12864-025-11678-8","url":null,"abstract":"<p><p>Yellow lupin (Lupinus luteus) gives valuable high-quality protein and has good sustainability due to its ability in nitrogen fixation and exudation of organic acids, which reduces the need for chemical-based phosphate fertilization in acid soils. However, the crop needs further improvements to contribute in a major way to sustainable agriculture and food security.In this study, we present the first chromosome-level genome assembly of L. luteus. The results provide insights into its genomic organization, evolution, and functional attributes. Using integrated genomic approaches, we unveil the genetic bases governing its adaptive responses to environmental stress, delineating the intricate interplay among alkaloid biosynthesis, mechanisms of pathogen resistance, and secondary metabolite transporters. Our comparative genomic analysis of closely related species highlights recent speciation events within the Lupinus genus, exposing extensive synteny preservation alongside notable structural alterations, particularly chromosome translocations. Remarkable expansions of gene families implicated in terpene metabolism, stress responses, and conglutin proteins were identified, elucidating the genetic basis of L. luteus' superior nutritional profile and defensive capabilities. Additionally, a diverse array of disease resistance-related (R) genes was uncovered, alongside the characterization of pivotal enzymes governing quinolizidine alkaloid biosynthesis, thus shedding light on the molecular mechanisms underlying \"bitterness\" in lupin seeds.This comprehensive genomic analysis serves as a valuable resource to improve this species in terms of resilience, yield, and seed protein levels to contribute to food and feed to face the worldwide challenge of sustainable agriculture and food security.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"477"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075722","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
Characterizing differences in the muscle transcriptome between cattle with alternative LCORL-NCAPG haplotypes. 不同LCORL-NCAPG单倍型牛肌肉转录组差异的表征。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11665-z
Fernanda Martins Rodrigues, Leif E Majeres, Anna C Dilger, Joshua C McCann, Christopher J Cassady, Dan W Shike, Jonathan E Beever
{"title":"Characterizing differences in the muscle transcriptome between cattle with alternative LCORL-NCAPG haplotypes.","authors":"Fernanda Martins Rodrigues, Leif E Majeres, Anna C Dilger, Joshua C McCann, Christopher J Cassady, Dan W Shike, Jonathan E Beever","doi":"10.1186/s12864-025-11665-z","DOIUrl":"https://doi.org/10.1186/s12864-025-11665-z","url":null,"abstract":"<p><strong>Background: </strong>The LCORL-NCAPG locus is a major quantitative trait locus (QTL) on bovine chromosome 6 (BTA6) that influences growth and carcass composition in cattle. To further understand the molecular mechanism responsible for the phenotypic changes associated with this locus, twenty-four Charolais-sired calves were selected for muscle transcriptome analysis based on alternative homozygous LCORL-NCAPG haplotypes (i.e., 12 \"QQ\" and 12 \"qq\", where \"Q\" is a haplotype harboring variation associated with increased growth). At 300 days of age, a biopsy of the longissimus dorsi muscle was collected from each animal for RNA sequencing.</p><p><strong>Results: </strong>Gene expression analysis identified 733 genes as differentially expressed between QQ and qq animals (q-value < 0.05). Notably, LCORL and genes known to be important regulators of growth such as IGF2 were upregulated in QQ individuals, while genes associated with adiposity such as FASN and LEP were downregulated, reflecting the increase in lean growth associated with this locus. Gene set enrichment analysis demonstrated QQ individuals had downregulation of pathways associated with adipogenesis, alongside upregulation of transcripts for cellular machinery essential for protein synthesis and energy metabolism, particularly ribosomal and mitochondrial components.</p><p><strong>Conclusions: </strong>The differences in the muscle transcriptome between QQ and qq animals imply that muscle hypertrophy may be metabolically favored over accumulation of fat in animals with the QQ haplotype. Our findings also suggest this haplotype could be linked to a difference in LCORL expression that potentially influences the downstream transcriptional effects observed, though further research will be needed to confirm the molecular mechanisms underlying the associated changes in phenotype.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"479"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075681","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
Mapping-based genome size estimation. 基于图谱的基因组大小估计。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11640-8
Shakunthala Natarajan, Jessica Gehrke, Boas Pucker
{"title":"Mapping-based genome size estimation.","authors":"Shakunthala Natarajan, Jessica Gehrke, Boas Pucker","doi":"10.1186/s12864-025-11640-8","DOIUrl":"https://doi.org/10.1186/s12864-025-11640-8","url":null,"abstract":"<p><p>While the size of chromosomes can be measured under a microscope, obtaining the exact size of a genome remains a challenge. Biochemical methods and k-mer distribution-based approaches allow only estimations. An alternative approach to estimate the genome size based on high contiguity assemblies and read mappings is presented here. Analyses of Arabidopsis thaliana and Beta vulgaris data sets are presented to show the impact of different parameters. Oryza sativa, Brachypodium distachyon, Solanum lycopersicum, Vitis vinifera, and Zea mays were also analyzed to demonstrate the broad applicability of this approach. Further, MGSE was also used to analyze Escherichia coli, Saccharomyces cerevisiae, and Caenorhabditis elegans datasets to show its utility beyond plants. Mapping-based Genome Size Estimation (MGSE) and additional scripts are available on GitHub: https://github.com/bpucker/MGSE . MGSE predicts genome sizes based on short reads or long reads requiring a minimal coverage of 5-fold.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"482"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12079912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075700","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
Distribution of runs of homozygosity in Lactuca species and its implications for plant breeding and evolutionary conservation. 乳藓属植物纯合子的分布及其对植物育种和进化保护的意义。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11674-y
Qianqian Zhang, Wenjun Lv, Defu Liu, Xueying Xie, Ke Yang, You Tang, Johann Solkner
{"title":"Distribution of runs of homozygosity in Lactuca species and its implications for plant breeding and evolutionary conservation.","authors":"Qianqian Zhang, Wenjun Lv, Defu Liu, Xueying Xie, Ke Yang, You Tang, Johann Solkner","doi":"10.1186/s12864-025-11674-y","DOIUrl":"https://doi.org/10.1186/s12864-025-11674-y","url":null,"abstract":"<p><p>Runs of homozygosity (ROH) have been extensively investigated to uncover the genomic inbred regions that reflect past population and breeding histories. In this study, we have explored the distribution and number of ROH in different Lactuca species including the cultivated lettuce varieties and their wild relatives. Next generation sequencing (NGS) technology provides the unique opportunity to study the genomes with resolution up to per-base-pair and we could compute ROH in the highest accuracy using NGS data. Our study reveals that Lactuca sativa has the longest average ROH length and fewest number of ROHs, while wild species show shorter, more numerous ROHs as expected. We found that these cultivated varieties exhibit relatively stable number of ROH and ROH lengths, with the largest median ROH count observed in Oilseed and the largest average ROH length in Crisphead. There is a significant proportion of medium-length ROHs (100 kb-1 Mb) enriched in L. sativa and L. serriola, with the highest number observed in L. serriola, while L. saligna has more short ROHs (< 10 KB), and the highest number of ROHs in the 10 KB-100 KB range were observed in Butterhead, with Stalk and Oilseed showing fewer and shorter ROHs overall. It suggests that Stalk and Oilseed were still in a process of breeding. The comparison between PLINK computation and our developed in-house algorithm shows that PLINK tends to detect longer ROH, whereas our algorithm adopts a more conservative approach, resulting in fewer and shorter ROH segments detected with higher precision more suitable for NGS data. We further analyze the distribution of ROH hotspots with a higher frequency occurred across cultivated species genomes, which has identified key genes such as DREB2B, NHL12, RPV1, and EIX2, which play crucial roles in plant stress tolerance and immune responses, enhancing adaptability to extreme environments and providing resistance to various diseases. These findings provide fresh scientific insights into lettuce breeding, germplasm conservation, and sustainable production, highlighting the importance of understanding and managing genetic diversity in global agricultural practices.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"481"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12076861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075702","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
Environmental acclimatization of the relatively high latitude scleractinian coral Pavona decussata: integrative perspectives on seasonal subaerial exposure and temperature fluctuations. 相对高纬度硬核珊瑚的环境适应:季节地面暴露和温度波动的综合视角。
IF 3.5 2区 生物学
BMC Genomics Pub Date : 2025-05-14 DOI: 10.1186/s12864-025-11660-4
Man Zhang, Shan Huang, Li Luo, Kefu Yu
{"title":"Environmental acclimatization of the relatively high latitude scleractinian coral Pavona decussata: integrative perspectives on seasonal subaerial exposure and temperature fluctuations.","authors":"Man Zhang, Shan Huang, Li Luo, Kefu Yu","doi":"10.1186/s12864-025-11660-4","DOIUrl":"https://doi.org/10.1186/s12864-025-11660-4","url":null,"abstract":"<p><strong>Background: </strong>Coral reefs are being increasingly threatened due to global climate change. However, some coral species have shown strong tolerance despite living in marginal environments. The species Pavona decussata from Weizhou Island in the South China Sea experiences subaerial exposure in summer and winter due to extreme low tides, and their environmental acclimatization to this aerial exposure remains unexplored.</p><p><strong>Results: </strong>Here we aimed to explore the molecular mechanism of P. decussata under season or subaerial exposure background through physiological and multi-omics integrative analyses. Specifically, corals with a history of seasonal air exposure underwent comprehensive changes in energy metabolism and defense mechanisms compared to permanently submerged corals. In summer, corals experiencing subaerial exposure enhanced antioxidant defense by increasing the activities of the enzymes T-SOD and CAT, and the coral-associated bacterial community shifted toward the class Alphaproteobacteria that may have provided corals with resistance to environmental stresses. Moreover, the decrease in the transcript levels of the TCA cycle and the increase in metabolite content of ornithine suggested an alteration in energy metabolic pathways. Corals with an air-exposed background may have enhanced energy reserves in winter, as indicated by a higher content of Chl a and a rebound in coral-associated bacterial community toward the class Gammaproteobacteria. Furthermore, accumulation of the metabolite leukotriene D4 and activation of the TGF-beta signaling pathway suggested higher anti-inflammatory requirements and positive regulation by innate immunity.</p><p><strong>Conclusions: </strong>This study provides insights into the acclimatization of P. decussata to seasonal environmental fluctuations and demonstrates that relatively high-latitude corals possess the plasticity and acclimatory capacity to adapt to marginal environments.</p>","PeriodicalId":9030,"journal":{"name":"BMC Genomics","volume":"26 1","pages":"483"},"PeriodicalIF":3.5,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12080138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075704","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}
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