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      Rapid gene content turnover on the germline-restricted chromosome in songbirds

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          Abstract

          The germline-restricted chromosome (GRC) of songbirds represents a taxonomically widespread example of programmed DNA elimination. Despite its apparent indispensability, we still know very little about the GRC’s genetic composition, function, and evolutionary significance. Here we assemble the GRC in two closely related species, the common and thrush nightingale. In total we identify 192 genes across the two GRCs, with many of them present in multiple copies. Interestingly, the GRC appears to be under little selective pressure, with the genetic content differing dramatically between the two species and many GRC genes appearing to be pseudogenized fragments. Only one gene, cpeb1, has a complete coding region in all examined individuals of the two species and shows no copy number variation. The acquisition of this gene by the GRC corresponds with the earliest estimates of the GRC origin, making it a good candidate for the functional indispensability of the GRC in songbirds.

          Abstract

          Songbirds have an extra chromosome with unknown function found only in their germline. This study assembles and compares this chromosome in two closely related nightingale species, finding large differences in genetic content and only one conserved gene with probable essential function.

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          Trimmomatic: a flexible trimmer for Illumina sequence data

          Motivation: Although many next-generation sequencing (NGS) read preprocessing tools already existed, we could not find any tool or combination of tools that met our requirements in terms of flexibility, correct handling of paired-end data and high performance. We have developed Trimmomatic as a more flexible and efficient preprocessing tool, which could correctly handle paired-end data. Results: The value of NGS read preprocessing is demonstrated for both reference-based and reference-free tasks. Trimmomatic is shown to produce output that is at least competitive with, and in many cases superior to, that produced by other tools, in all scenarios tested. Availability and implementation: Trimmomatic is licensed under GPL V3. It is cross-platform (Java 1.5+ required) and available at http://www.usadellab.org/cms/index.php?page=trimmomatic Contact: usadel@bio1.rwth-aachen.de Supplementary information: Supplementary data are available at Bioinformatics online.
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            The Sequence Alignment/Map format and SAMtools

            Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: rd@sanger.ac.uk
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              STAR: ultrafast universal RNA-seq aligner.

              Accurate alignment of high-throughput RNA-seq data is a challenging and yet unsolved problem because of the non-contiguous transcript structure, relatively short read lengths and constantly increasing throughput of the sequencing technologies. Currently available RNA-seq aligners suffer from high mapping error rates, low mapping speed, read length limitation and mapping biases. To align our large (>80 billon reads) ENCODE Transcriptome RNA-seq dataset, we developed the Spliced Transcripts Alignment to a Reference (STAR) software based on a previously undescribed RNA-seq alignment algorithm that uses sequential maximum mappable seed search in uncompressed suffix arrays followed by seed clustering and stitching procedure. STAR outperforms other aligners by a factor of >50 in mapping speed, aligning to the human genome 550 million 2 × 76 bp paired-end reads per hour on a modest 12-core server, while at the same time improving alignment sensitivity and precision. In addition to unbiased de novo detection of canonical junctions, STAR can discover non-canonical splices and chimeric (fusion) transcripts, and is also capable of mapping full-length RNA sequences. Using Roche 454 sequencing of reverse transcription polymerase chain reaction amplicons, we experimentally validated 1960 novel intergenic splice junctions with an 80-90% success rate, corroborating the high precision of the STAR mapping strategy. STAR is implemented as a standalone C++ code. STAR is free open source software distributed under GPLv3 license and can be downloaded from http://code.google.com/p/rna-star/.
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                Author and article information

                Contributors
                stephen.schlebusch@gmail.com
                radka.reifova@natur.cuni.cz
                Journal
                Nat Commun
                Nat Commun
                Nature Communications
                Nature Publishing Group UK (London )
                2041-1723
                29 July 2023
                29 July 2023
                2023
                : 14
                : 4579
                Affiliations
                [1 ]GRID grid.4491.8, ISNI 0000 0004 1937 116X, Department of Zoology, Faculty of Science, , Charles University, ; Prague, Czech Republic
                [2 ]GRID grid.418095.1, ISNI 0000 0001 1015 3316, Institute of Molecular Genetics, , Czech Academy of Sciences, ; Prague, Czech Republic
                [3 ]GRID grid.8273.e, ISNI 0000 0001 1092 7967, School of Biological Sciences, , University of East Anglia, ; Norwich, UK
                [4 ]GRID grid.8993.b, ISNI 0000 0004 1936 9457, Department of Organismal Biology – Systematic Biology, Evolutionary Biology Centre, Science for Life Laboratory, , Uppsala University, ; Norbyvägen 18D, 752 36 Uppsala, Sweden
                [5 ]GRID grid.10388.32, ISNI 0000 0001 2240 3300, Institute of Evolutionary Biology and Ecology, , University of Bonn, ; An der Immenburg 1, 53121 Bonn, Germany
                [6 ]GRID grid.4491.8, ISNI 0000 0004 1937 116X, Institute for Environmental Studies, Faculty of Science, , Charles University, ; Prague, Czech Republic
                [7 ]GRID grid.10979.36, ISNI 0000 0001 1245 3953, Department of Zoology, Faculty of Science, , Palacky University, ; Olomouc, Czech Republic
                [8 ]Military Health Institute, Military Medical Agency, Tychonova 1, 160 01 Prague 6, San Antonio, Czech Republic
                [9 ]GRID grid.418095.1, ISNI 0000 0001 1015 3316, Institute of Vertebrate Biology, , Czech Academy of Sciences, ; Brno, Czech Republic
                [10 ]GRID grid.517093.9, ISNI 0000 0005 0294 9006, Present Address: Centre for Molecular Biodiversity Research, , Leibniz Institute for the Analysis of Biodiversity Change, ; Adenauerallee 127, 53113 Bonn, Germany
                Author information
                http://orcid.org/0000-0003-2355-2652
                http://orcid.org/0000-0003-2148-3606
                http://orcid.org/0000-0003-2445-830X
                http://orcid.org/0000-0002-5391-301X
                http://orcid.org/0000-0003-3059-6127
                http://orcid.org/0000-0002-9213-0034
                http://orcid.org/0000-0002-8979-9992
                http://orcid.org/0000-0001-5852-5174
                Article
                40308
                10.1038/s41467-023-40308-8
                10387091
                37516764
                62768640-f3d8-42f6-9d32-1349d98176de
                © The Author(s) 2023

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 14 February 2022
                : 20 July 2023
                Funding
                Funded by: FundRef https://doi.org/10.13039/501100001824, Grantová Agentura České Republiky (Grant Agency of the Czech Republic);
                Award ID: 20-23784S
                Award ID: 23-07287S
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/100007397, Univerzita Karlova v Praze (Charles University);
                Award ID: PRIMUS/19/SCI/008
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/100007543, Grantová Agentura, Univerzita Karlova (Charles University Grant Agency);
                Award ID: 1169420
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/100010663, EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council);
                Award ID: 101002158
                Award Recipient :
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                © Springer Nature Limited 2023

                Uncategorized
                evolutionary biology,genome evolution,evolutionary genetics,genomic instability,structural variation

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