Genome research最新文献

筛选
英文 中文
Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships 961个果蝇和秀丽隐杆线虫转录因子的结合图谱揭示了组织特异性调控关系
IF 7 2区 生物学
Genome research Pub Date : 2024-10-22 DOI: 10.1101/gr.279037.124
Michelle Kudron, Louis Gewirtzman, Alec Victorsen, Bridget C Lear, Dionne Vafeados, Jiahao Gao, Jinrui Xu, Swapna Samanta, Emily Frink, Adri Tran-Pearson, Chau Hyunh, Ann Hammonds, William Fisher, Martha L Wall, Greg Wesseling, Vanessa Hernandez, Zhichun Lin, Mary Kasparian, Kevin P White, Ravi Allada, Mark Gerstein, LaDeana Hillier, Susan E Celniker, Valerie Reinke, Robert Waterston
{"title":"Binding profiles for 961 Drosophila and C. elegans transcription factors reveal tissue-specific regulatory relationships","authors":"Michelle Kudron, Louis Gewirtzman, Alec Victorsen, Bridget C Lear, Dionne Vafeados, Jiahao Gao, Jinrui Xu, Swapna Samanta, Emily Frink, Adri Tran-Pearson, Chau Hyunh, Ann Hammonds, William Fisher, Martha L Wall, Greg Wesseling, Vanessa Hernandez, Zhichun Lin, Mary Kasparian, Kevin P White, Ravi Allada, Mark Gerstein, LaDeana Hillier, Susan E Celniker, Valerie Reinke, Robert Waterston","doi":"10.1101/gr.279037.124","DOIUrl":"https://doi.org/10.1101/gr.279037.124","url":null,"abstract":"A catalog of transcription factor (TF) binding sites in the genome is critical for deciphering regulatory relationships. Here we present the culmination of the efforts of the Model Organism ENCyclopedia Of DNA Elements (modENCODE) and the model organism Encyclopedia of Regulatory Networks (modERN) consortia to systematically assay TF binding events in vivo in two major model organisms, <em>Drosophila melanogaster</em> (fly) and <em>Caenorhabditis elegans</em> (worm). These datasets comprise 605 TFs identifying 3.6M sites in the fly and 356 TFs identifying 0.9 M sites in the worm and represent the majority of the regulatory space in each genome. We demonstrate that TFs associate with chromatin in clusters termed \"metapeaks\", that larger metapeaks have characteristics of high occupancy target (HOT) regions, and that the importance of consensus sequence motifs bound by TFs depends on metapeak size and complexity. Combining ChIP-seq data with single cell RNA-seq data in a machine learning model identifies TFs with a prominent role in promoting target gene expression in specific cell types, even differentiating between parent-daughter cells during embryogenesis. These data are a rich resource for the community that should fuel and guide future investigations into TF function. To facilitate data accessibility and utility, all strains expressing GFP-tagged TFs are available at the stock centers for each organism. The chromatin immunoprecipitation sequencing data are available through the ENCODE Data Coordinating Center, GEO, and through a direct interface that provides rapid access to processed data sets and summary analyses, as well as widgets to probe the cell type-specific TF-target relationships.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"79 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142487258","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}
引用次数: 0
Chromatin interaction maps identify oncogenic targets of enhancer duplications in cancer 染色质相互作用图谱确定癌症中增强子重复的致癌靶点
IF 7 2区 生物学
Genome research Pub Date : 2024-10-18 DOI: 10.1101/gr.278418.123
Yueqiang Song, Fuyuan Li, Shangzi Wang, Yuntong Wang, Cong Lai, Lian Chen, Ning Jiang, Jin Li, Xingdong Chen, Swneke D. Bailey, Xiaoyang Zhang
{"title":"Chromatin interaction maps identify oncogenic targets of enhancer duplications in cancer","authors":"Yueqiang Song, Fuyuan Li, Shangzi Wang, Yuntong Wang, Cong Lai, Lian Chen, Ning Jiang, Jin Li, Xingdong Chen, Swneke D. Bailey, Xiaoyang Zhang","doi":"10.1101/gr.278418.123","DOIUrl":"https://doi.org/10.1101/gr.278418.123","url":null,"abstract":"As a major type of structural variants, tandem duplication plays a critical role in tumorigenesis by increasing oncogene dosage. Recent work has revealed that noncoding enhancers are also affected by duplications leading to the activation of oncogenes that are inside or outside of the duplicated regions. However, the prevalence of enhancer duplication and the identity of their target genes remains largely unknown in the cancer genome. Here, by analyzing whole-genome sequencing data in a non-gene-centric manner, we identify 881 duplication hotspots in 13 major cancer types, most of which do not contain protein-coding genes. We show that the hotspots are enriched with distal enhancer elements and are highly lineage-specific. We develop a HiChIP-based methodology that navigates enhancer–promoter contact maps to prioritize the target genes for the duplication hotspots harboring enhancer elements. The methodology identifies many novel enhancer duplication events activating oncogenes such as <em>ESR1</em>, <em>FOXA1</em>, <em>GATA3, GATA6, TP63</em>, and <em>VEGFA</em>, as well as potentially novel oncogenes such as <em>GRHL2, IRF2BP2</em>, and <em>CREB3L1</em>. In particular, we identify a duplication hotspot on Chromosome 10p15 harboring a cluster of enhancers, which skips over two genes, through a long-range chromatin interaction, to activate an oncogenic isoform of the <em>NET1</em> gene to promote migration of gastric cancer cells. Focusing on tandem duplications, our study substantially extends the catalog of noncoding driver alterations in multiple cancer types, revealing attractive targets for functional characterization and therapeutic intervention.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"233 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142449557","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}
引用次数: 0
Dynamic dysregulation of retrotransposons in neurodegenerative diseases at the single-cell level 单细胞水平上神经退行性疾病中逆转录转座子的动态失调
IF 7 2区 生物学
Genome research Pub Date : 2024-10-18 DOI: 10.1101/gr.279363.124
Wankun Deng, Citu Citu, Andi Liu, Zhongming Zhao
{"title":"Dynamic dysregulation of retrotransposons in neurodegenerative diseases at the single-cell level","authors":"Wankun Deng, Citu Citu, Andi Liu, Zhongming Zhao","doi":"10.1101/gr.279363.124","DOIUrl":"https://doi.org/10.1101/gr.279363.124","url":null,"abstract":"Retrotransposable elements (RTEs) are common mobile genetic elements comprising ∼42% of the human genome. RTEs play critical roles in gene regulation and function, but how they are specifically involved in complex diseases is largely unknown. Here, we investigate the cellular heterogeneity of RTEs using 12 single-cell transcriptome profiles covering three neurodegenerative diseases, Alzheimer's disease (AD), Parkinson's disease, and multiple sclerosis. We identify cell type marker RTEs in neurons, astrocytes, oligodendrocytes, and oligodendrocyte precursor cells that are related to these diseases. The differential expression analysis reveals the landscape of dysregulated RTE expression, especially L1s, in excitatory neurons of multiple neurodegenerative diseases. Machine learning algorithms for predicting cell disease stage using a combination of RTE and gene expression features suggests dynamic regulation of RTEs in AD. Furthermore, we construct a single-cell atlas of retrotransposable elements in neurodegenerative disease (scARE) using these data sets and features. scARE has six feature analysis modules to explore RTE dynamics in a user-defined condition. To our knowledge, scARE represents the first systematic investigation of RTE dynamics at the single-cell level within the context of neurodegenerative diseases.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"14 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142448826","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}
引用次数: 0
De novo genome assemblies of two cryptodiran turtles with ZZ/ZW and XX/XY sex chromosomes provide insights into patterns of genome reshuffling and uncover novel 3D genome folding in amniotes 两只具有 ZZ/ZW 和 XX/XY 性染色体的隐翅龟的全新基因组组装揭示了基因组重组模式,并发现了羊膜动物新的三维基因组折叠方式
IF 7 2区 生物学
Genome research Pub Date : 2024-10-16 DOI: 10.1101/gr.279443.124
Basanta Bista, Laura González-Rodelas, Lucía Álvarez-González, Zhi-qiang Wu, Eugenia E. Montiel, Ling Sze Lee, Daleen B. Badenhorst, Srihari Radhakrishnan, Robert Literman, Beatriz Navarro-Dominguez, John B. Iverson, Simon Orozco-Arias, Josefa González, Aurora Ruiz-Herrera, Nicole Valenzuela
{"title":"De novo genome assemblies of two cryptodiran turtles with ZZ/ZW and XX/XY sex chromosomes provide insights into patterns of genome reshuffling and uncover novel 3D genome folding in amniotes","authors":"Basanta Bista, Laura González-Rodelas, Lucía Álvarez-González, Zhi-qiang Wu, Eugenia E. Montiel, Ling Sze Lee, Daleen B. Badenhorst, Srihari Radhakrishnan, Robert Literman, Beatriz Navarro-Dominguez, John B. Iverson, Simon Orozco-Arias, Josefa González, Aurora Ruiz-Herrera, Nicole Valenzuela","doi":"10.1101/gr.279443.124","DOIUrl":"https://doi.org/10.1101/gr.279443.124","url":null,"abstract":"Understanding the evolution of chromatin conformation among species is fundamental to elucidate the architecture and plasticity of genomes. Nonrandom interactions of linearly distant loci regulate gene function in species-specific patterns, affecting genome function, evolution, and, ultimately, speciation. Yet, data from nonmodel organisms are scarce. To capture the macroevolutionary diversity of vertebrate chromatin conformation, here we generate de novo genome assemblies for two cryptodiran (hidden-neck) turtles via Illumina sequencing, chromosome conformation capture, and RNA-seq: <em>Apalone spinifera</em> (ZZ/ZW, 2<em>n</em> = 66) and <em>Staurotypus triporcatus</em> (XX/XY, 2<em>n</em> = 54). We detected differences in the three-dimensional (3D) chromatin structure in turtles compared to other amniotes beyond the fusion/fission events detected in the linear genomes. Namely, whole-genome comparisons revealed distinct trends of chromosome rearrangements in turtles: (1) a low rate of genome reshuffling in <em>Apalone</em> (Trionychidae) whose karyotype is highly conserved when compared to chicken (likely ancestral for turtles), and (2) a moderate rate of fusions/fissions in <em>Staurotypus</em> (Kinosternidae) and <em>Trachemys scripta</em> (Emydidae). Furthermore, we identified a chromosome folding pattern that enables “centromere–telomere interactions” previously undetected in turtles. The combined turtle pattern of “centromere–telomere interactions” (discovered here) plus “centromere clustering” (previously reported in sauropsids) is novel for amniotes and it counters previous hypotheses about amniote 3D chromatin structure. We hypothesize that the divergent pattern found in turtles originated from an amniote ancestral state defined by a nuclear configuration with extensive associations among microchromosomes that were preserved upon the reshuffling of the linear genome.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"32 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142443871","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}
引用次数: 0
PWAS Hub for exploring gene-based associations of common complex diseases 探索常见复杂疾病基因关联的 PWAS 中心
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.278916.123
Guy Kelman, Roei Zucker, Nadav Brandes, Michal Linial
{"title":"PWAS Hub for exploring gene-based associations of common complex diseases","authors":"Guy Kelman, Roei Zucker, Nadav Brandes, Michal Linial","doi":"10.1101/gr.278916.123","DOIUrl":"https://doi.org/10.1101/gr.278916.123","url":null,"abstract":"PWAS (proteome-wide association study) is an innovative genetic association approach that complements widely used methods like GWAS (genome-wide association study). The PWAS approach involves consecutive phases. Initially, machine learning modeling and probabilistic considerations quantify the impact of genetic variants on protein-coding genes’ biochemical functions. Secondly, for each individual, aggregating the variants per gene determines a gene-damaging score. Finally, standard statistical tests are activated in the case-control setting to yield statistically significant genes per phenotype. The PWAS Hub offers a user-friendly interface for an in-depth exploration of gene–disease associations from the UK Biobank (UKB). Results from PWAS cover 99 common diseases and conditions, each with over 10,000 diagnosed individuals per phenotype. Users can explore genes associated with these diseases, with separate analyses conducted for males and females. For each phenotype, the analyses account for sex-based genetic effects, inheritance modes (dominant and recessive), and the pleiotropic nature of associated genes. The PWAS Hub showcases its usefulness for asthma by navigating through proteomic-genetic analyses. Inspecting PWAS asthma-listed genes (a total of 27) provide insights into the underlying cellular and molecular mechanisms. Comparison of PWAS-statistically significant genes for common diseases to the Open Targets benchmark shows partial but significant overlap in gene associations for most phenotypes. Graphical tools facilitate comparing genetic effects between PWAS and coding GWAS results, aiding in understanding the sex-specific genetic impact on common diseases. This adaptable platform is attractive to clinicians, researchers, and individuals interested in delving into gene–disease associations and sex-specific genetic effects.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"18 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439678","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}
引用次数: 0
Seamless, rapid, and accurate analyses of outbreak genomic data using split k-mer analysis 利用分裂 k-mer 分析法无缝、快速、准确地分析疫情基因组数据
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.279449.124
Romain Derelle, Johanna von Wachsmann, Tommi Mäklin, Joel Hellewell, Timothy Russell, Ajit Lalvani, Leonid Chindelevitch, Nicholas J. Croucher, Simon R. Harris, John A. Lees
{"title":"Seamless, rapid, and accurate analyses of outbreak genomic data using split k-mer analysis","authors":"Romain Derelle, Johanna von Wachsmann, Tommi Mäklin, Joel Hellewell, Timothy Russell, Ajit Lalvani, Leonid Chindelevitch, Nicholas J. Croucher, Simon R. Harris, John A. Lees","doi":"10.1101/gr.279449.124","DOIUrl":"https://doi.org/10.1101/gr.279449.124","url":null,"abstract":"Sequence variation observed in populations of pathogens can be used for important public health and evolutionary genomic analyses, especially outbreak analysis and transmission reconstruction. Identifying this variation is typically achieved by aligning sequence reads to a reference genome, but this approach is susceptible to reference biases and requires careful filtering of called genotypes. There is a need for tools that can process this growing volume of bacterial genome data, providing rapid results, but that remain simple so they can be used without highly trained bioinformaticians, expensive data analysis, and long-term storage and processing of large files. Here we describe split <em>k</em>-mer analysis (SKA2), a method that supports both reference-free and reference-based mapping to quickly and accurately genotype populations of bacteria using sequencing reads or genome assemblies. SKA2 is highly accurate for closely related samples, and in outbreak simulations, we show superior variant recall compared with reference-based methods, with no false positives. SKA2 can also accurately map variants to a reference and be used with recombination detection methods to rapidly reconstruct vertical evolutionary history. SKA2 is many times faster than comparable methods and can be used to add new genomes to an existing call set, allowing sequential use without the need to reanalyze entire collections. With an inherent absence of reference bias, high accuracy, and a robust implementation, SKA2 has the potential to become the tool of choice for genotyping bacteria. SKA2 is implemented in Rust and is freely available as open-source software.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"78 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439676","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}
引用次数: 0
Telomere-to-telomere assembly by preserving contained reads 通过保留所含读数进行端粒到端粒组装
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.279311.124
Sudhanva Shyam Kamath, Mehak Bindra, Debnath Pal, Chirag Jain
{"title":"Telomere-to-telomere assembly by preserving contained reads","authors":"Sudhanva Shyam Kamath, Mehak Bindra, Debnath Pal, Chirag Jain","doi":"10.1101/gr.279311.124","DOIUrl":"https://doi.org/10.1101/gr.279311.124","url":null,"abstract":"Automated telomere-to-telomere (T2T) de novo assembly of diploid and polyploid genomes remains a formidable task. A string graph is a commonly used assembly graph representation in the assembly algorithms. The string graph formulation employs graph simplification heuristics, which drastically reduce the count of vertices and edges. One of these heuristics involves removing the reads contained in longer reads. In practice, this heuristic occasionally introduces gaps in the assembly by removing all reads that cover one or more genome intervals. The factors contributing to such gaps remain poorly understood. In this work, we mathematically derived the frequency of observing a gap near a germline and a somatic heterozygous variant locus. Our analysis shows that (i) an assembly gap due to contained read deletion is an order of magnitude more frequent in Oxford Nanopore reads than PacBio HiFi reads due to differences in their read-length distributions, and (ii) this frequency decreases with an increase in the sequencing depth. Drawing cues from these observations, we addressed the weakness of the string graph formulation by developing the RAFT assembly algorithm. RAFT addresses the issue of contained reads by fragmenting reads and producing a more uniform read-length distribution. The algorithm retains spanned repeats in the reads during the fragmentation. We empirically demonstrate that RAFT significantly reduces the number of gaps using simulated datasets. Using real Oxford Nanopore and PacBio HiFi datasets of the HG002 human genome, we achieved a twofold increase in the contig NG50 and the number of haplotype-resolved T2T contigs compared to Hifiasm.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"10 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439687","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}
引用次数: 0
Theoretical framework for the difference of two negative binomial distributions and its application in comparative analysis of sequencing data 两个负二项分布之差的理论框架及其在测序数据比较分析中的应用
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.278843.123
Alicia Petrany, Ruoyu Chen, Shaoqiang Zhang, Yong Chen
{"title":"Theoretical framework for the difference of two negative binomial distributions and its application in comparative analysis of sequencing data","authors":"Alicia Petrany, Ruoyu Chen, Shaoqiang Zhang, Yong Chen","doi":"10.1101/gr.278843.123","DOIUrl":"https://doi.org/10.1101/gr.278843.123","url":null,"abstract":"High-throughput sequencing (HTS) technologies have been instrumental in investigating biological questions at the bulk and single-cell levels. Comparative analysis of two HTS data sets often relies on testing the statistical significance for the difference of two negative binomial distributions (DOTNB). Although negative binomial distributions are well studied, the theoretical results for DOTNB remain largely unexplored. Here, we derive basic analytical results for DOTNB and examine its asymptotic properties. As a state-of-the-art application of DOTNB, we introduce DEGage, a computational method for detecting differentially expressed genes (DEGs) in scRNA-seq data. DEGage calculates the mean of the sample-wise differences of gene expression levels as the test statistic and determines significant differential expression by computing the <em>P</em>-value with DOTNB. Extensive validation using simulated and real scRNA-seq data sets demonstrates that DEGage outperforms five popular DEG analysis tools: DEGseq2, DEsingle, edgeR, Monocle3, and scDD. DEGage is robust against high dropout levels and exhibits superior sensitivity when applied to balanced and imbalanced data sets, even with small sample sizes. We utilize DEGage to analyze prostate cancer scRNA-seq data sets and identify marker genes for 17 cell types. Furthermore, we apply DEGage to scRNA-seq data sets of mouse neurons with and without fear memory and reveal eight potential memory-related genes overlooked in previous analyses. The theoretical results and supporting software for DOTNB can be widely applied to comparative analyses of dispersed count data in HTS and broad research questions.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"57 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439679","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}
引用次数: 0
Global characterization of somatic mutations and DNA methylation changes during vegetative propagation in strawberries 草莓无性繁殖过程中体细胞突变和 DNA 甲基化变化的总体特征
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.279378.124
Shaoqiang Hu, Xiangguo Zeng, Yuguo Liu, Yongping Li, Minghao Qu, Wen-Biao Jiao, Yongchao Han, Chunying Kang
{"title":"Global characterization of somatic mutations and DNA methylation changes during vegetative propagation in strawberries","authors":"Shaoqiang Hu, Xiangguo Zeng, Yuguo Liu, Yongping Li, Minghao Qu, Wen-Biao Jiao, Yongchao Han, Chunying Kang","doi":"10.1101/gr.279378.124","DOIUrl":"https://doi.org/10.1101/gr.279378.124","url":null,"abstract":"Somatic mutations arise and accumulate during tissue culture and vegetative propagation, potentially affecting various traits in horticultural crops, but their characteristics are still unclear. Here, somatic mutations in regenerated woodland strawberry derived from tissue culture of shoot tips under different conditions and 12 cultivated strawberry individuals are analyzed by whole genome sequencing. The mutation frequency of single nucleotide variants is significantly increased with increased hormone levels or prolonged culture time in the range of 3.3 × 10<sup>−8</sup>–3.0 × 10<sup>−6</sup> mutations per site. CG methylation shows a stable reduction (0.71%–8.03%) in regenerated plants, and hypoCG-DMRs are more heritable after sexual reproduction. A high-quality haplotype-resolved genome is assembled for the strawberry cultivar “Beni hoppe.” The 12 “Beni hoppe” individuals randomly selected from different locations show 4731–6005 mutations relative to the reference genome, and the mutation frequency varies among the subgenomes. Our study has systematically characterized the genetic and epigenetic variants in regenerated woodland strawberry plants and different individuals of the same strawberry cultivar, providing an accurate assessment of somatic mutations at the genomic scale and nucleotide resolution in plants.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"24 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439681","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}
引用次数: 0
Complete genomes of Asgard archaea reveal diverse integrated and mobile genetic elements 阿斯加德古菌的完整基因组揭示了多样化的整合和移动遗传元素
IF 7 2区 生物学
Genome research Pub Date : 2024-10-15 DOI: 10.1101/gr.279480.124
Luis E. Valentin-Alvarado, Ling-Dong Shi, Kathryn E. Appler, Alexander Crits-Christoph, Valerie De Anda, Benjamin A. Adler, Michael L. Cui, Lynn Ly, Pedro Leão, Richard J. Roberts, Rohan Sachdeva, Brett J. Baker, David F. Savage, Jillian F. Banfield
{"title":"Complete genomes of Asgard archaea reveal diverse integrated and mobile genetic elements","authors":"Luis E. Valentin-Alvarado, Ling-Dong Shi, Kathryn E. Appler, Alexander Crits-Christoph, Valerie De Anda, Benjamin A. Adler, Michael L. Cui, Lynn Ly, Pedro Leão, Richard J. Roberts, Rohan Sachdeva, Brett J. Baker, David F. Savage, Jillian F. Banfield","doi":"10.1101/gr.279480.124","DOIUrl":"https://doi.org/10.1101/gr.279480.124","url":null,"abstract":"Asgard archaea are of great interest as the progenitors of Eukaryotes, but little is known about the mobile genetic elements (MGEs) that may shape their ongoing evolution. Here, we describe MGEs that replicate in Atabeyarchaeia, a wetland Asgard archaea lineage represented by two complete genomes. We used soil depth–resolved population metagenomic data sets to track 18 MGEs for which genome structures were defined and precise chromosome integration sites could be identified for confident host linkage. Additionally, we identified a complete 20.67 kbp circular plasmid and two family-level groups of viruses linked to Atabeyarchaeia, via CRISPR spacer targeting. Closely related 40 kbp viruses possess a hypervariable genomic region encoding combinations of specific genes for small cysteine-rich proteins structurally similar to restriction-homing endonucleases. One 10.9 kbp integrative conjugative element (ICE) integrates genomically into the <em>Atabeyarchaeum deiterrae-1</em> chromosome and has a 2.5 kbp circularizable element integrated within it. The 10.9 kbp ICE encodes an expressed Type IIG restriction-modification system with a sequence specificity matching an active methylation motif identified by Pacific Biosciences (PacBio) high-accuracy long-read (HiFi) metagenomic sequencing. Restriction-modification of Atabeyarchaeia differs from that of another coexisting Asgard archaea, Freyarchaeia, which has few identified MGEs but possesses diverse defense mechanisms, including DISARM and Hachiman, not found in Atabeyarchaeia. Overall, defense systems and methylation mechanisms of Asgard archaea likely modulate their interactions with MGEs, and integration/excision and copy number variation of MGEs in turn enable host genetic versatility.","PeriodicalId":12678,"journal":{"name":"Genome research","volume":"54 1","pages":""},"PeriodicalIF":7.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439680","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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信