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Results for “Genome assembly”

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At least 217 records · Page 12Linked to original sources
PubMed2026

The genome sequence of Vicia sativa L., 1753 (Fabales: Fabaceae).

We present a genome assembly of Vicia sativa (Narrowleaf Vetch; Streptophyta; Magnoliopsida; Fabales; Fabaceae). The assembly consists of two haplotypes with total lengths of 1 748.92 megabases and 1 751.13 megabases. Most of haplotype 1 (98.95%) is scaffolded into 6 chromosomal pseudomolecules. Haplotype 2 was assembled to scaffold level. The mitochondrial sequence has a length of 405.76 kilobases and the plastid genome assembly has a length of 124.62 kilobases. Gene annotation of this assembly on Ensembl identified 11 105 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Fabales↗
PubMed2026

The genome sequence of Filago lutescens Jord., 1846 (Asterales: Asteraceae).

We present a genome assembly of Filago lutescens (Red-tipped Cudweed; Streptophyta; Magnoliopsida; Asterales; Asteraceae). The assembly consists of two haplotypes with total lengths of 648.45 megabases and 646.22 megabases. Most of haplotype 1 (99.77%) is scaffolded into 14 chromosomal pseudomolecules. Haplotype 2 was assembled to scaffold level. The mitochondrial sequence has a length of 225.84 kilobases and the plastid genome assembly has a length of 151.54 kilobases. Gene annotation of this assembly on Ensembl identified 38 942 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Asterales↗
PubMed2026

The genome sequence of Quercus petraea Liebl., 1784 (Fagales: Fagaceae).

We present a genome assembly of Quercus petraea (sessile oak; Streptophyta; Magnoliopsida; Fagales; Fagaceae). The assembly consists of two haplotypes with total lengths of 823.57 megabases and 815.09 megabases. Most of haplotype 1 (99.41%) is scaffolded into 12 chromosomal pseudomolecules. Haplotype 2 was assembled to scaffold level. The mitochondrial sequence has a length of 349.29 kilobases and the plastid genome assembly has a length of 161.18 kilobases. Gene annotation of this assembly on Ensembl identified 32 253 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Fagales↗
PubMed2000

Initiation of genome replication: assembly and disassembly of replication-competent chromatin.

Considerable progress has been made in research on the initiation of eukaryotic genome replication. This has generated a number of recent review articles. Here, we briefly summarize the major conclusions described in these articles and also include the results of more recent primary articles. The consensus view that has emerged is that a pre-replication complex assembles during the G1 phase of the cell cycle, making chromatin competent for replication. The complex consists of Orc proteins, Cdc6p, and the family of Mcm proteins. Chromatin, thus 'licenced' for replication, is guided into the S phase by the activation of cell-cycle-regulated protein kinases. Upon entry into S phase, the pre-replication complex is partially dissolved, first by the dissociation of Cdc6p and then by the gradual release of Mcm proteins. This appears to be accompanied by a recruitment of chain elongation factors and the establishment of replication forks.

Animals↗
PubMed2004

A preprocessor for shotgun assembly of large genomes.

The whole-genome shotgun (WGS) assembly technique has been remarkably successful in efforts to determine the sequence of bases that make up a genome. WGS assembly begins with a large collection of short fragments that have been selected at random from a genome. The sequence of bases at each end of the fragment is determined, albeit imprecisely, resulting in a sequence of letters called a "read." Each letter in a read is assigned a quality value, which estimates the probability that a sequencing error occurred in determining that letter. Reads are typically cut off after about 500 letters, where sequencing errors become endemic. We report on a set of procedures that (1) corrects most of the sequencing errors, (2) changes quality values accordingly, and (3) produces a list of "overlaps," i.e., pairs of reads that plausibly come from overlapping parts of the genome. Our procedures, which we call collectively the "UMD Overlapper," can be run iteratively and as a preprocessor for other assemblers. We tested the UMD Overlapper on Celera's Drosophila reads. When we replaced Celera's overlap procedures in the front end of their assembler, it was able to produce a significantly improved genome.

Animals↗
PubMed2026

Diversification of Cellulose Synthase (CESA) Genes in Mosses Suggests Both Ancient and Recent Gene duplications.

Cellulose is an important polysaccharide that constitutes all plant cell walls, giving them strength and stability. The plant cellulose synthase (CESA) gene family, which encodes the catalytic subunits of cellulose synthesis complexes (CSCs), has diversified independently in several plant lineages, providing an interesting model for understanding selection for gene duplication. Here we quantified the presence of CESA genes across mosses to understand how the process of gene family diversification occurred in this group and how it parallels diversification in other groups. We first examined the CESA gene family in eight species of mosses across seven families for which whole genome assemblies were available. We then identified CESA genes from additional species, for which only short-read sequence data was available, by using BLAST searches and targeted gene assemblies. We validated this approach by comparing the assembled paralogs from the short-read data to the genes identified from whole genome assemblies in the eight reference species. This approach allowed us to identify paralogs directly from short-read data and greatly expand our sample set. Results from the combined empirical data support the hypothesis that CESA genes diversified within the moss lineage at least as early as the mesozoic period, during or possibly even prior to the onset of moss diversification, but also continue to diversify within modern species. In addition, we found evidence for purifying selection as the dominant force shaping these genes and observed that different lineages experienced different levels of evolutionary constraint. Lastly, our approach to assemble paralogs has the potential to allow researchers to improve analyses of gene duplication events.

Physcomitrium patens↗
PubMed2003

Drosophila checkpoint kinase 2 couples centrosome function and spindle assembly to genomic integrity.

In syncytial Drosophila embryos, damaged or incompletely replicated DNA triggers centrosome disruption in mitosis, leading to defects in spindle assembly and anaphase chromosome segregation. The damaged nuclei drop from the cortex and are not incorporated into the cells that form the embryo proper. A null mutation in the Drosophila checkpoint kinase 2 tumor suppressor homolog (DmChk2) blocks this mitotic response to DNA lesions and also prevents loss of defective nuclei from the cortex. In addition, DNA damage leads to increased DmChk2 localization to the centrosome and spindle microtubules. DmChk2 is therefore essential for a "mitotic catastrophe" signal that disrupts centrosome function in response to genotoxic stress and ensures that mutant and aneuploid nuclei are eliminated from the embryonic precursor pool.

Aneuploidy↗
PubMed2024

A RNA Dodecahedral Cage Inside a Human Virus Plays a Dual Biological Role in Virion Assembly and Genome Release Control.

Human rhinoviruses (RV) are among the most frequent human pathogens. As major causative agents of common colds they originate serious socioeconomic problems and huge expenditure every year, and they also exacerbate severe respiratory diseases. No anti-rhinoviral drugs or vaccines are available so far. Antiviral drug design may benefit from an understanding of the role during the infectious cycle of the interactions in the virion between the capsid and the viral nucleic acid. The genomic RNA inside the human RV virion forms a dodecahedral cage made of 30 double-stranded RNA elements that interact with equivalent sites at the capsid inner wall. RNA dodecahedral cages also occur in distantly related insect and plant viruses. However, the functional role(s) of the interactions between any dodecahedral cage and the capsid remained to be established. Here we describe an extensive structure-function mutational analysis of the capsid-RNA dodecahedral cage interface in the RV virion, to dissect the role of the interactions between the capsid and the cage-forming RNA duplexes in: (i) infection by RV; (ii) virus biological fitness; (iii) virion assembly; (iv) virion stability; and (v) viral RNA uncoating. The results reveal that the capsid-bound dsRNA dodecahedral cage in the human RV virion is a multifunctional structural element. Two structurally overlapping subsets of RNA duplex-capsid interactions promote virus infectivity and biological fitness by respectively facilitating virion assembly or restraining the untimely, unproductive uncoating of the viral RNA genome. These results provide new insights into virion morphogenesis and genome uncoating, and have implications for antiviral drug design.

RNA, Viral↗
PubMed2026

'PePApipe': A complete bioinformatics analysis pipeline for African Swine Fever Virus genome.

African Swine Fever Virus (ASFV) is of high concern in porcine livestock across the world due to both the high mortality rates and the trade restrictions imposed on affected regions. The viral genome is large and complex, and genomic analysis is essential for tracing its origin and evolution. Although several bioinformatics tools exist for genome assembly and analysis, no single platform integrates all necessary steps in an accessible and systematic way. In this study the authors developed 'PePApipe', a custom-built, user-friendly pipeline that enables rapid, complete, and efficient ASFV genome analysis. It is specifically designed for laboratory professionals with limited bioinformatics experience, requiring only basic command-line knowledge. Starting from raw sequencing data, PePApipe integrates thirteen software tools into one automated workflow, covering quality control and pre-processing of raw reads, de novo genome assembly and variant calling. Programmed in Python, it can be executed locally through bash scripts, or using a Slurm protocol for batch processing of multiple samples. The main outputs are the ASFV consensus genome sequence and a file listing its putative variants compared to the selected reference genome. PePApipe classifies generated files into structured folders and produces intermediate files that can be used as inputs for further or parallel analyses; users can also enable or disable specific steps in each particular case. This pipeline is adaptable and complementary to downstream steps such as viral genome annotation or genome visualization. By consolidating all stages of viral genome analysis into a single automated workflow, PePApipe reduces the likelihood of user error, and enhances reproducibility and efficiency. This user-friendly pipeline facilitates the transition from sequencing to assembly and downstream analysis of viral genomes, ensuring a fast and reliable response to molecular analysis demands. Finally, the pipeline can be easily adapted to the study of other viral species, expanding its application in infectious diseases surveillance.

African Swine Fever Virus↗
PubMed2025

Temperature and Pressure Shaped the Evolution of Antifreeze Proteins in Polar and Deep Sea Zoarcoid Fishes.

Antifreeze proteins (AFPs) have enabled teleost fishes to repeatedly colonize polar seas. Four AFP types have convergently evolved in several fish lineages. AFPs inhibit ice crystal growth and lower tissue freezing point. In lineages with AFPs, species inhabiting colder environments may possess more AFP copies. Elucidating how differences in AFP copy number evolve is challenging due to the genes' tandem array structure and consequently poor resolution of these repetitive regions. Here, we explore the evolution of type III AFPs (AFP III) in the globally distributed suborder Zoarcoidei, leveraging six new long-read genome assemblies. Zoarcoidei has fewer genomic resources relative to other polar fish clades while it is one of the few groups of fishes adapted to both the Arctic and Southern Oceans. Combining these new assemblies with additional long-read genomes available for Zoarcoidei, we conducted a comprehensive phylogenetic test of AFP III evolution and modeled the effects of thermal habitat and depth on AFP III gene family evolution. We confirm a single origin of AFP III via neofunctionalization of the enzyme sialic acid synthase B. We also show that AFP copy number increased under low temperature but decreased with depth, potentially because pressure lowers freezing point. Associations between the environment and AFP III copy number were driven by duplications of paralogs that were translocated out of the ancestral locus at which AFP III arose. Our results reveal novel environmental effects on AFP evolution and demonstrate the value of high-quality genomic resources for studying how structural genomic variation shapes convergent adaptation.

Animals↗
PubMed2000

The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes.

In yeasts, the peroxin Pex3p was identified as a peroxisomal integral membrane protein that presumably plays a role in the early steps of peroxisomal assembly. In humans, defects of peroxins cause peroxisomal biogenesis disorders such as Zellweger syndrome. We previously reported data on the human PEX3 cDNA and its protein, which in addition to the peroxisomal targeting sequence contains a putative endoplasmic reticulum targeting signal. Here we report the genomic organization, sequencing of the putative promoter region, chromosomal localization, and physical mapping of the human PEX3 gene. The gene is composed of 12 exons and 11 introns spanning a region of approximately 40 kb. The highly conserved putative promoter region is very GC rich, lacks typical TATA and CCAAT boxes, and contains potential Sp1, AP1, and AP2 binding sites. The gene was localized to chromosome 6q23-24 and D6S279 was identified to be the closest positional marker. As yeast mutants deficient in PEX3 have been shown to lack peroxisomes as well as any peroxisomal remnant structures, human PEX3 is a candidate gene for peroxisomal assembly disorders. Mutation analysis of the human PEX3 gene was therefore performed in fibroblasts from patients suffering from peroxisome biogenesis disorders. Complementation groups 1, 4, 7, 8, and 9 according to the numbering system of Kennedy Krieger Institute were analyzed but no difference to the wild-type sequence was detected. PEX3 mutations were therefore excluded as the molecular basis of the peroxisomal defect in these complementation groups.

ATP-Binding Cassette Transporters↗
PubMed2025

LegionProfiler: a computational tool for the identification of virulence factors and classification of Legionella pneumophila serogroup 1 isolates.

SUMMARY: Legionella pneumophila has significantly contributed to multiple cases of pneumonia with a high rate of mortality globally. Its ability to exploit host mechanisms through several expressed virulence factors poses challenges for diagnosis, treatment, and outbreak control. To address this, we developed LegionProfiler, a computational tool that swiftly identifies virulence factor protein domains within genome assemblies of Legionella pneumophila serogroup 1 isolates and classifies them into high- or low-virulence groups. LegionProfiler automates the probing of genome assemblies for virulence-associated protein domains and determines the isolate's potential to cause severe pneumonia infection. The LegionProfiler workflow is made available through a user-friendly interface to enhance technical control of infectious sources and adds important insights to the general epidemiology of clinical isolates. It could also support the development of targeted therapeutic strategies that will improve patient treatment. AVAILABILITY AND IMPLEMENTATION: LegionProfiler is freely accessible as a web service at https://legionprofiler.uni-muenster.de, and can also be run locally in a Docker container. The source code can be found at https://imigitlab.uni-muenster.de/heiderlab/legionprofiler or at Zenodo (DOI: 10.5281/zenodo.15592325).

Legionella pneumophila↗
PubMed2025

The Complete Genome of Three At-Risk Florida Butterflies: Cyclargus thomasi bethunebakeri, Eumaeus atala and Heraclides ponceana.

We present short-read genome assemblies of three butterfly species native to the state of Florida: the Atala butterfly (Eumaeus atala), the Miami blue (Cyclargus thomasi bethunebakeri), and the Schaus' swallowtail (Heraclides ponceana). All species are of conservation concern with the latter two listed as federally endangered. Genome assemblies recovered 77-92% of single-copy orthologous insect genes, providing a valuable resource for advancing lepidopteran genomic research.

Journal Article↗
PubMed2026

The genome sequence of Acaena ovalifolia Ruiz & Pav., 1798 (Rosales: Rosaceae).

We present a genome assembly of Acaena ovalifolia (Two-spined Acaena; Streptophyta; Magnoliopsida; Rosales; Rosaceae). The assembly consists of two haplotypes with total lengths of 687.12 megabases and 687.19 megabases. Most of haplotype 1 (99.59%) is scaffolded into 21 chromosomal pseudomolecules. Most of haplotype 2 (99.12%) is scaffolded into 21 chromosomal pseudomolecules. The mitochondrial sequence has a length of 365.03 kilobases and the plastid genome assembly has a length of 156.05 kilobases. Gene annotation of this assembly on Ensembl identified 51 813 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Acaena ovalifolia↗
PubMed2026

The genome sequence of Frangula alnus Mill., 1768 (Rosales: Rhamnaceae).

We present a genome assembly of Frangula alnus (alder buckthorn; Streptophyta; Magnoliopsida; Rosales; Rhamnaceae). The assembly consists of two haplotypes with total lengths of 279.06 megabases and 281.25 megabases. Most of haplotype 1 (99.91%) is scaffolded into 10 chromosomal pseudomolecules. Most of haplotype 2 (99.91%) is scaffolded into 10 chromosomal pseudomolecules. The mitochondrial sequence has a length of 492.03 kilobases and the plastid genome assembly has a length of 161.23 kilobases. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Frangula alnus↗
PubMed2026

The genome sequence of Aquilegia vulgaris L., 1753 (Ranunculales: Ranunculaceae).

We present a genome assembly of Aquilegia vulgaris (Columbine; Streptophyta; Magnoliopsida; Ranunculales; Ranunculaceae). The assembly consists of two haplotypes with total lengths of 296.10 megabases and 289.22 megabases. Most of haplotype 1 (98.81%) is scaffolded into 7 chromosomal pseudomolecules. Most of haplotype 2 (94.35%) is scaffolded into 7 chromosomal pseudomolecules. The mitochondrial sequences have lengths of 388.22 and 83.91 kilobases and the plastid genome assembly has a length of 161.5 kilobases. Gene annotation of this assembly on Ensembl identified 23 898 protein-coding genes. This assembly was generated as part of the Darwin Tree of Life project, which produces reference genomes for eukaryotic species found in Britain and Ireland.

Aquilegia vulgaris↗
PubMed2026

Beyond blacklists: a critical assessment of exclusion set generation strategies and alternative approaches.

MOTIVATION: Short-read sequencing data can be affected by alignment artifacts in certain genomic regions. Removing reads overlapping these exclusion regions, previously known as Blacklists, help to potentially improve biological signal. Alternatively, "sponge" or decoy sequences have been proposed to reduce alignment artifacts. RESULTS: We examined the widely used Blacklist software and found that pre-generated exclusion sets were difficult to reproduce due to sensitivity to input data, aligner choice, and read length. We further explored the use of "sponge" sequences-unassembled genomic regions such as satellite DNA, ribosomal DNA, and mitochondrial DNA-as an alternative approach. We additionally investigated the effect of the T2T-CHM13 genome assembly on improving biological signals. Aligning reads to a genome that includes sponge sequences reduced signal correlation in ChIP-seq data comparably to Blacklist-derived exclusion sets while preserving biological signal. Sponge-based alignment also had minimal impact on RNA-seq gene counts, suggesting broader applicability beyond chromatin profiling. These results highlight the limitations of fixed exclusion sets, and recommend the use of the T2T-CHM13 assembly or, for the hg38 genome assembly, "sponge" sequences as an alignment-guided strategy for reducing artifacts and improving functional genomics analyses.

Software↗