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88 results for “genome rearrangements”
Unveiling Genomic Rearrangements in Engineered iPSC Lines
<p>Bionano smap files of Dual Analysis of each detected unique SV not present in parental cells. Only SVs within 12kbp of a canonical gene are presented for clarity.</p>
A development-specific POLX essential for programmed genome rearrangement in Paramecium tetraurelia
<p><span>During the sexual cycle, programmed genome rearrangement (PGR) in <em>Paramecium tetraurelia</em> involves the non-homologous end joining (NHEJ) DNA repair pathway to eliminate specific germinal Internal Eliminated Sequences (IESs) from the newly developing somatic nucleus. In addition to the core NHEJ factors Ku70/80 and Xrcc4/Lig4, additional enzymes are required to process the 4-base 5’-protruding ends generated following DNA cleavage at IES boundaries, prior to their ligation. Here, we report that PolX (a,b,c,d), four <em>P. tetraurelia</em> distant orthologs of the human Pol</span><span>l</span><span> DNA polymerase, are involved in repair of IES excision junctions. During rearrangements, PolX-depleted cells accumulate genome-wide errors, such as unrepaired double-strand breaks, 1-nucleotide deletions and IES retention. Although all PolX paralogs can process DNA ends, two of them (PolXa&b) are induced during PGR and have acquired tight nuclear anchoring properties through their N-terminal region, which contains a predicted BRCT domain. Finally, we show that PolXa accumulates in nuclear foci together with other NHEJ proteins and the Dicer-like enzyme Dcl5, which is involved in the biogenesis of IES-specific small RNAs. We propose</span><span><span> </span></span><span>that these “DNA repair foci” correspond to the sites where IES concatemers, a by-product of IES excision, are ligated together to produce the precursors of iesRNAs.</span></p>
Supplementary data for: Chromosome-scale genome assemblies of aphids reveal extensively rearranged autosomes and long-term conservation of the X chromosome
<p><strong><em>Myzus persicae </em>clone O v2 frozen release</strong></p> <p>Genome assembly: Myzus_persicae_O_v2.0.scaffolds.fa.gz</p> <p>BRAKER2 gene models: Myzus_persicae_O_v2.0.scaffolds.braker2.gff3</p> <p>List of gene models containing internal stop codons (removed from the protein and cds fasta files): Myzus_persicae_O_v2.0.scaffolds.braker2.bad_genes.lst</p> <p>BRAKER2 protein sequences: Myzus_persicae_O_v2.0.scaffolds.braker2.gff3.filtered.aa.fa</p> <p>BRAKER2 protein sequences (longest transcript per gene only): Myzus_persicae_O_v2.0.scaffolds.braker2.gff3.filtered.aa.LTPG.fa</p> <p>BRAKER2 coding sequences: Myzus_persicae_O_v2.0.scaffolds.braker2.gff3.filtered.cds.fa</p> <p>BRAKER2 coding sequences (longest transcript per gene only): Myzus_persicae_O_v2.0.scaffolds.braker2.gff3.filtered.cds.LTPG.fa</p> <p><em>De novo </em>repeat library (ReapeatModeler merged with repbase insecta): Myzus_persicae_O_v2.0_repeat_lib.repeatmodeler_merged_repbase_insecta.fa</p> <p>RepeatMasker transposable element annotation using the <em>M. persicae de novo</em> repeat library: Myzus_persicae_O_v2.0.scaffolds.repeatmodeler_merged_repbase_insecta.repeatmasker.gff.out</p> <p>RepeatMasker transposable element annotation using the <em>M. persicae</em> <em>de novo r</em>epeat library (gff format): Myzus_persicae_O_v2.0.scaffolds.repeatmodeler_merged_repbase_insecta.repeatmasker.gff</p> <p><strong><em>Acyrthosiphon pisum</em> clone JIC1 v1 frozen release</strong></p> <p>Genome assembly: Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.fa.gz</p> <p>BRAKER2 gene models: Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.gff</p> <p>List of gene models containing internal stop codons (removed from the protein and cds fasta files): Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.bad_genes.lst</p> <p>BRAKER2 protein sequences: Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.gff.filtered.aa.fa</p> <p>BRAKER2 protein sequences (longest transcript per gene only): Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.gff.filtered.aa.LTPG.fa</p> <p>BRAKER2 coding sequences: Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.gff.filtered.cds.fa</p> <p>BRAKER2 coding sequences (longest transcript per gene only): Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.braker2.gff.filtered.cds.LTPG.fa</p> <p><em>De novo </em>repeat library (ReapeatModeler merged with repbase insecta): Acyrthosiphon_pisum_JIC1_repeat_lib.repeatmodeler_merged_repbase_insecta.fa</p> <p>RepeatMasker transposable element annotation using the <em>A. pisum</em> <em>de novo</em> repeat library: Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.repeatmodeler_merged_repbase_insecta.repeatmasker.out</p> <p>RepeatMasker transposable element annotation using the <em>A. pisum de novo</em> repeat library (gff format): Acyrthosiphon_pisum_JIC1_v1.0.scaffolds.repeatmodeler_merged_repbase_insecta.repeatmasker.gff</p> <p><strong><em>Rhodnius prolixus</em> DNA zoo chromosome-scale genome assembly annotation</strong></p> <p><em>R. prolixus </em>chromosome-scale genome assembly was obtained here: <a href="https://www.dnazoo.org/assemblies/Rhodnius_prolixus">https://www.dnazoo.org/assemblies/Rhodnius_prolixus</a>.</p> <p>Genome assembly: Rhodnius_prolixus-3.0.3_HiC.fasta</p> <p>BRAKER2 gene models: Rhodnius_prolixus-3.0.3_HiC.braker2.gff</p> <p>BRAKER2 protein sequences: Rhodnius_prolixus-3.0.3_HiC.braker2.gff.aa.fa</p> <p>BRAKER2 protein sequences (longest transcript per gene only): Rhodnius_prolixus-3.0.3_HiC.braker2.gff.aa.LTPG.fa</p> <p>BRAKER2 coding sequences: Rhodnius_prolixus-3.0.3_HiC.braker2.gff.cds.fa</p> <p><strong><em>Triatoma rubrofasciata</em> chromosome-scale genome assembly annotation</strong></p> <p><em>T. rubrofasciata </em>chromosome-scale genome assembly was obtained here: <a href="http://dx.doi.org/10.5524/100614">http://dx.doi.org/10.5524/100614</a></p> <p>Genome assembly: zhuichun_assembly.fasta</p> <p>BRAKER2 gene models: zhuichun_assembly.braker2.gff</p> <p>BRAKER2 protein sequences: zhuichun_assembly.braker2.gff.aa.fa</p> <p>BRAKER2 protein sequences (longest transcript per gene only): zhuichun_assembly.braker2.gff.aa.LTPG.fa</p> <p>BRAKER2 coding sequences: zhuichun_assembly.braker2.gff.cds.fa</p> <p><strong>Hemiptera orthogroups and species tree</strong></p> <p>OrthoFinder was used to cluster proteomes of 14 Hemiptera into orthogroups for phylogenomic analysis. All proteomes were reduced to the longest transcript per gene. See here for full details:</p> <p>Species included, taxon IDs and data source:</p> <p>Mcer = Myzus cerasi v1.1 (<a href="https://bipaa.genouest.org/sp/myzus_cerasi/">https://bipaa.genouest.org/sp/myzus_cerasi/</a>)</p> <p>MperO = Myzus persicae clone O v2 (This study)</p> <p>Dnox = Diuraphis noxia Thorpe et. al. gene predictions (<a href="https://bipaa.genouest.org/sp/diuraphis_noxia/">https://bipaa.genouest.org/sp/diuraphis_noxia/</a>)</p> <p>Apis = Acyrthosiphon pisum JIC1 v1 (This study)</p> <p>Pnig = Pentalonia nigronervosa (This study)</p> <p>Rmai = Rhopalosiphum maidis v0.1 (<a href="http://gigadb.org/dataset/100572">http://gigadb.org/dataset/100572</a>)</p> <p>Rpad = Rhopalosiphum padi v1.0 (<a href="https://bipaa.genouest.org/sp/rhopalosiphum_padi/">https://bipaa.genouest.org/sp/rhopalosiphum_padi/</a>)</p> <p>Agly = Aphis glycines biotype 4 v2.1 (<a href="https://zenodo.org/record/3453468#.XnpL5JOgLRY">https://zenodo.org/record/3453468#.XnpL5JOgLRY</a>)</p> <p>BtabMEAM1 = Bemissia tabacci MEAM1 v1.2 (<a href="http://www.whiteflygenomics.org/cgi-bin/bta/index.cgi">http://www.whiteflygenomics.org/cgi-bin/bta/index.cgi</a>)</p> <p>Trub = Triatoma rubrofasciata (This study)</p> <p>Rpro = Rhodnius prolixus (This study)</p> <p>Ofas = Oncopeltus fasciatus OGS v1.0 (<a href="https://i5k.nal.usda.gov/Oncopeltus_fasciatus">https://i5k.nal.usda.gov/Oncopeltus_fasciatus</a>)</p> <p>Sfuc = Sogatella furcifera v1 (<a href="http://dx.doi.org/10.5524/100255">http://dx.doi.org/10.5524/100255</a>)</p> <p>Nlug = Nilaparvata lugens (<a href="https://genomebiology.biomedcentral.com/articles/10.1186/s13059-014-0521-0#Sec42">https://genomebiology.biomedcentral.com/articles/10.1186/s13059-014-0521-0#Sec42</a>)</p> <p>Files:</p> <p>Proteomes included in the analysis: proteomes.tar.gz</p> <p>Orthogroups: Orthogroups.txt</p> <p>Gene counts per orthogroup, per species: Orthogroups.GeneCount.csv</p> <p>Single copy conserved orthogroups used for species tree: SingleCopyOrthogroups.txt</p> <p>Species tree alignment: SpeciesTreeAlignment.fa</p> <p>r8s configuration file (includes time calibrations and OrthoFinder ML species tree with branch lengths): species_tree_rooted.r8s.nex</p> <p>r8s time calibrated species tree: r8s_tree.nwk</p>
Genome rearrangement control data for dnarrange
<p>These files contain information on genome sequence rearrangements. They can be used as controls, to find rearrangements specific to other human datasets, with dnarrange: https://github.com/mcfrith/dnarrange</p> <ul> <li>hg38-NA12878-Min.txt.gz: from human female DNA NA12878, sequenced by MinION (Jain et al. Nat. Biotechnol. 2018 36:338-345, rel_3_4).</li> <li>hg38-NA19240-Pro.txt.gz: from human female DNA NA19240, sequenced by PromethION (De Coster et al. Genome Res. 2019 29:1178-1187, ERR258112-5).</li> <li>hg38-NA24385-CLR.txt.gz: from human male DNA NA24385, sequenced by PacBio Sequel (AM Wenger et al. Nat. Biotechnol. 2019, SRR9972588).</li> <li>hg38-panTro6.txt.gz: from chimpanzee male genome Clint_PTRv2/panTro6 (Kronenberg et al. Science 2018 360:eaar6343).</li> </ul>
Fig. 5 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 5. Phylogenetic tree Note: (A): Maximum likelihood (ML) phylogenetic tree inferred from the mitochondrial genome based on the 13 PCGs dataset; (B): Bayesian inference (BI) phylogenetic tree inferred from the mitochondrial genome based on the 13 PCGs dataset.
Fig. 4 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 4. Mitochondrial genome organization of Platygaster robiniae and 11 species of Platygastroidea, compared with the ancestral pancrustacean mt genome organization. Note: tRNA genes are indicated by single letter amino acid codes, L1, L2, S1 and S2 denote tRNALeu(CUN), tRNALeu(UUR), tRNASer(AGN) and tRNASer(UCN), respectively. Genes are transcribed from left to right except those indicated by underlining. Gene movements, relative to the ancestral organization, are indicated with arrows.
Fig. 2 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 2. Amino acids (A) and relative synonymous codons (B) of protein-coding genes of the mitochondrial genome of Platygaster robiniae.
Fig. 1 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 1. Genetic map of the complete mitochondrial genome of Platygaster robiniae. Notes: the blue arrow represents the direction of gene transcription; the black peak represents the deviation of GC%; the purple and green peaks represent the deviation in GC skew; green refers to positive skew, and purple indicates negative skew. (For interpretation of the references to colour in this figure legend, the reader is referred to the Web version of this article.)
Inter-generational nuclear crosstalk links the control of gene expression to programmed genome rearrangements during the Paramecium sexual cycle
<p>Multinucleate cells are found in many eukaryotes, but how multiple nuclei coordinate their functions is still poorly understood. In the cytoplasm of the ciliate <em>Paramecium tetraurelia</em>, two micronuclei (MIC) serving sexual reproduction coexist with a somatic macronucleus (MAC) dedicated to gene expression. During sexual processes, the MAC is progressively destroyed while still ensuring transcription and new MACs develop from copies of the zygotic MIC. Several gene clusters are successively induced and switched off before vegetative growth resumes. Concomitantly, programmed genome rearrangements (PGR) remove transposons and their relics from the new MACs. Development of the new MACs is controlled by the old MAC, since the latter expresses genes involved in PGR, including the <em>PGM</em> gene encoding the essential PiggyMac endonuclease that cleaves the ends of eliminated sequences. Using RNA deep sequencing and transcriptome analysis, we show that impairing PGR up-deregulates key PGR genes, together with ~600 other genes possibly also involved in PGR. Among these genes, 42% are no longer induced when no new MACs are formed, including 180 genes that are co-expressed with <em>PGM </em>under all tested conditions. We propose that bi-directional crosstalk between the two coexisting generations of MACs links gene expression to the progression of MAC development.</p>
Novel mitochondrial genome rearrangements including duplications and extensive heteroplasmy could underlie temperature adaptations in Antarctic notothenioid fishes
<p>Mitochondrial genomes are known for their compact size and conserved gene order, however, recent studies employing long-read sequencing technologies have revealed the presence of atypical mitogenomes in some species. In this study, we assembled and annotated the mitogenomes of five Antarctic notothenioids, including four icefishes (Champsocephalus gunnari, C. esox, Chaenocephalus aceratus, and Pseudochaenichthys georgianus) and the cold-specialized Trematomus borchgrevinki. Antarctic notothenioids are known to harbor some rearrangements in their mt genomes, however the extensive duplications in icefishes observed in our study have never been reported before. In the icefishes, we observed duplications of the protein coding gene ND6, two transfer RNAs, and the control region with different copy number variants present within the same individuals and with some ND6 duplications appearing to follow the canonical Duplication-Degeneration-Complementation (DDC) model in C. esox and C. gunnari. In addition, using long-read sequencing and k-mer analysis, we were able to detect extensive heteroplasmy in C. aceratus and C. esox. We also observed a large inversion in the mitogenome of T. borchgrevinki, along with the presence of tandem repeats in its control region. This study is the first in using long-read sequencing to assemble and identify structural variants and heteroplasmy in notothenioid mitogenomes and signifies the importance of long-reads in resolving complex mitochondrial architectures. Identification of such wide-ranging structural variants in the mitogenomes of these fishes could provide insight into the genetic basis of the atypical icefish mitochondrial physiology and more generally may provide insights about their potential role in cold adaptation.</p>
A single genomic region involving a putative chromosome rearrangement in flat oyster (Ostrea edulis) is associated with differential host resilience to the parasite Bonamia ostreae
<p>European flat oyster (<em>Ostrea edulis</em>) is an ecologically and economically important marine bivalve, that has been severely affected by the intracellular parasite <em>Bonamia ostreae</em>. In this study, a flat oyster SNP array (~14,000 SNPs) was used to validate previously reported outlier loci for divergent selection associated with <em>B. ostreae</em> exposure in the Northeast Atlantic Area. A total of 134 wild and hatchery individuals from the North Sea, collected in naïve (NV) and long-term affected (LTA) areas, were analysed. Genetic diversity and differentiation were related to the sampling origin (wild vs hatchery) when using neutral markers, and to bonamiosis status (NV vs LTA) when using outlier loci for divergent selection. Two genetic clusters appeared intermingled in all sampling locations when using outlier loci and their frequency was associated with their bonamiosis status. When both clusters were compared, outlier datasets showed high genetic divergence (FST > 0.25) unlike neutral loci (FST not ≠ 0). Moreover, the cluster associated with LTA samples showed much higher genetic diversity and significant heterozygote excess with outlier loci, but not with neutral data. Most outliers mapped on chromosome 8 (OE-C8) of the flat oyster genome, supporting a main genomic region underlying resilience to bonamiosis. Furthermore, differentially expressed genes previously reported between NV and LTA strains showed higher mapping density on OE-C8. A range of relevant immune functions were specifically enriched among genes annotated on OE-C8, providing hypotheses for resilience mechanisms to an intracellular parasite. The results suggest that marker-assisted selection could be applied to breed resilient strains of <em>O. edulis</em> to bonamiosis, if lower parasite load and/or higher viability of the LTA genetic cluster following <em>B. ostreae</em> infection is demonstrated.</p>
Bryozoan genomes reveal extensive chromosome rearrangement and the evolution of bilaterian genome structure
<p>Orthologous genes are commonly found together on the same chromosome over vast evolutionary distances. This extensive physical gene linkage, known as macrosynteny, can be seen between bilaterian phyla as divergent as Chordata, Echinodermata, Mollusca, and Nemertea and likely reflects the importance of genome organization to gene regulatory landscapes. Here, we report a unique pattern of genome evolution in Bryozoa, an understudied phylum of colonial invertebrates. Using comparative genomics, including phylogenetic reconstruction and orthologous gene mapping, we reconstruct the chromosomal evolutionary history of five bryozoans. We infer the ancestral bryozoan genome organization and identify multiple ancient chromosome fusions followed by gene mixing, leading to the near-complete loss of bilaterian linkage groups. A second wave of rearrangements, including chromosome fission, occurred independently in two bryozoan classes, further shuffling bryozoan genomes. We also discover at least five derived chromosomal fusion events shared between bryozoans and brachiopods, supporting the traditional yet highly debated Lophophorata hypothesis. Finally, we show that chromosome fusion and fission processes led to the separation of bryozoan Hox clusters. Our findings demonstrate that the canonical bilaterian genome structure has been lost across an entire phylum, reveal that linkage group fission can occur very frequently in specific lineages, and provide a powerful source of phylogenetic information.</p>
Annelid comparative genomics and the evolution of massive lineage-specific genome rearrangement in bilaterians
<p>The organization of genomes into chromosomes is critical for processes such as genetic recombination, environmental adaptation, and speciation. All animals with bilateral symmetry inherited a genome structure from their last common ancestor that has been highly conserved in some taxa but seemingly unconstrained in others. However, the evolutionary forces driving these differences and the processes by which they emerge have remained largely uncharacterized. Here we analyze genome organization across the phylum Annelida using 23 chromosome-level annelid genomes. We find that while most annelids have maintained the conserved bilaterian genome structure, a group containing leeches and earthworms possesses completely scrambled genomes. We develop a rearrangement index to quantify the extent of genome structure evolution and show leeches and earthworms to have the most highly rearranged genomes of any currently sampled bilaterian. We further show that bilaterian genomes can be classified into two distinct categories—high and low rearrangement—largely influenced by the presence or absence, respectively, of chromosome fission events. Our findings demonstrate that animal genome structure can be highly variable within a phylum and reveal that genome rearrangement can occur both in a gradual, stepwise fashion or as rapid, all-encompassing changes over short evolutionary timescales.</p>
Fig. 4 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 4. (continued).
Fig. 3 in The complete mitochondrial genome of Platygaster robiniae (Hymenoptera: Platygastridae): A novel tRNA secondary structure, gene rearrangements and phylogenetic implications
Fig. 3. The secondary structure of 22 tRNA in Platygaster robiniae.
Bryozoan genomes reveal extensive chromosome rearrangement and the evolution of bilaterian genome structure
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Novel mitochondrial genome rearrangements including duplications and extensive heteroplasmy could underlie temperature adaptations in Antarctic notothenioid fishes
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Annelid comparative genomics and the evolution of massive lineage-specific genome rearrangement in bilaterians
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A single genomic region involving a putative chromosome rearrangement in flat oyster (Ostrea edulis) is associated with differential host resilience to the parasite Bonamia ostreae
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Figure 2 in Molecular phylogeny of Acanthochitonina (Mollusca: Polyplacophora: Chitonida): three new mitochondrial genomes, rearranged gene orders and systematics
Figure 2. Molecular phylogeny of Acanthochitonina. Majority-rule consensus tree from the Bayesian analysis of the multilocus nucleotide data set, which includes three mitochondrial and two nuclear markers. Additional phylogenetic results are available in the Supplemental File 2. Note the proposed taxonomic arrangements shown by vertical lines. Numbers at nodes are support values from posterior probabilities and maximum likelihood bootstrap proportions, respectively. Scale bar is in substitutions per site.
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Allen Brain Atlas
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OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.