Genome BiologyPub Date : 2015-10-19DOI: 10.1186/s13059-015-0794-y
Gina M DeNicola, Florian A Karreth, David J Adams, Chi C Wong
{"title":"The utility of transposon mutagenesis for cancer studies in the era of genome editing.","authors":"Gina M DeNicola, Florian A Karreth, David J Adams, Chi C Wong","doi":"10.1186/s13059-015-0794-y","DOIUrl":"https://doi.org/10.1186/s13059-015-0794-y","url":null,"abstract":"<p><p>The use of transposons as insertional mutagens to identify cancer genes in mice has generated a wealth of information over the past decade. Here, we discuss recent major advances in transposon-mediated insertional mutagenesis screens and compare this technology with other screening strategies. </p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"229"},"PeriodicalIF":12.3,"publicationDate":"2015-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0794-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34167722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-19DOI: 10.1186/s13059-015-0788-9
Catarina A Marques, Nicholas J Dickens, Daniel Paape, Samantha J Campbell, Richard McCulloch
{"title":"Genome-wide mapping reveals single-origin chromosome replication in Leishmania, a eukaryotic microbe.","authors":"Catarina A Marques, Nicholas J Dickens, Daniel Paape, Samantha J Campbell, Richard McCulloch","doi":"10.1186/s13059-015-0788-9","DOIUrl":"10.1186/s13059-015-0788-9","url":null,"abstract":"<p><strong>Background: </strong>DNA replication initiates on defined genome sites, termed origins. Origin usage appears to follow common rules in the eukaryotic organisms examined to date: all chromosomes are replicated from multiple origins, which display variations in firing efficiency and are selected from a larger pool of potential origins. To ask if these features of DNA replication are true of all eukaryotes, we describe genome-wide origin mapping in the parasite Leishmania.</p><p><strong>Results: </strong>Origin mapping in Leishmania suggests a striking divergence in origin usage relative to characterized eukaryotes, since each chromosome appears to be replicated from a single origin. By comparing two species of Leishmania, we find evidence that such origin singularity is maintained in the face of chromosome fusion or fission events during evolution. Mapping Leishmania origins suggests that all origins fire with equal efficiency, and that the genomic sites occupied by origins differ from related non-origins sites. Finally, we provide evidence that origin location in Leishmania displays striking conservation with Trypanosoma brucei, despite the latter parasite replicating its chromosomes from multiple, variable strength origins.</p><p><strong>Conclusions: </strong>The demonstration of chromosome replication for a single origin in Leishmania, a microbial eukaryote, has implications for the evolution of origin multiplicity and associated controls, and may explain the pervasive aneuploidy that characterizes Leishmania chromosome architecture.</p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"230"},"PeriodicalIF":12.3,"publicationDate":"2015-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34099797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-14DOI: 10.1186/s13059-015-0789-8
Jian Feng, Matthew Wilkinson, Xiaochuan Liu, Immanuel Purushothaman, Deveroux Ferguson, Vincent Vialou, Ian Maze, Ningyi Shao, Pamela Kennedy, JaWook Koo, Caroline Dias, Benjamin Laitman, Victoria Stockman, Quincey LaPlant, Michael E Cahill, Eric J Nestler, Li Shen
Genome BiologyPub Date : 2015-10-13DOI: 10.1186/s13059-015-0798-7
{"title":"Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.","authors":"","doi":"10.1186/s13059-015-0798-7","DOIUrl":"https://doi.org/10.1186/s13059-015-0798-7","url":null,"abstract":"","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"226"},"PeriodicalIF":12.3,"publicationDate":"2015-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0798-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34084806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-12DOI: 10.1186/s13059-015-0776-0
Gabriel Renaud, Viviane Slon, Ana T Duggan, Janet Kelso
{"title":"Schmutzi: estimation of contamination and endogenous mitochondrial consensus calling for ancient DNA.","authors":"Gabriel Renaud, Viviane Slon, Ana T Duggan, Janet Kelso","doi":"10.1186/s13059-015-0776-0","DOIUrl":"https://doi.org/10.1186/s13059-015-0776-0","url":null,"abstract":"<p><strong>Unlabelled: </strong>Ancient DNA is typically highly degraded with appreciable cytosine deamination, and contamination with present-day DNA often complicates the identification of endogenous molecules. Together, these factors impede accurate assembly of the endogenous ancient mitochondrial genome. We present schmutzi, an iterative approach to jointly estimate present-day human contamination in ancient human DNA datasets and reconstruct the endogenous mitochondrial genome. By using sequence deamination patterns and fragment length distributions, schmutzi accurately reconstructs the endogenous mitochondrial genome sequence even when contamination exceeds 50 %. Given sufficient coverage, schmutzi also produces reliable estimates of contamination across a range of contamination rates.</p><p><strong>Availability: </strong>https://bioinf.eva.mpg.de/schmutzi/ license:GPLv3.</p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"224"},"PeriodicalIF":12.3,"publicationDate":"2015-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0776-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34080304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-08DOI: 10.1186/s13059-015-0781-3
Xiaobei Zhou, Mark D Robinson
{"title":"Do count-based differential expression methods perform poorly when genes are expressed in only one condition?","authors":"Xiaobei Zhou, Mark D Robinson","doi":"10.1186/s13059-015-0781-3","DOIUrl":"https://doi.org/10.1186/s13059-015-0781-3","url":null,"abstract":"<p><p>A response to 'Comprehensive evaluation of differential gene expression analysis methods for RNA-seq data' by Rapaport F, Khanin R, Liang Y, Pirun M, Krek A, Zumbo P, Mason CE, Socci ND and Betel D in Genome Biology, 2013, 14:R95. </p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"222"},"PeriodicalIF":12.3,"publicationDate":"2015-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0781-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34073017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-08DOI: 10.1186/s13059-015-0795-x
Evelien M Bunnik, Karine G Le Roch
{"title":"PfAlba1: master regulator of translation in the malaria parasite.","authors":"Evelien M Bunnik, Karine G Le Roch","doi":"10.1186/s13059-015-0795-x","DOIUrl":"https://doi.org/10.1186/s13059-015-0795-x","url":null,"abstract":"<p><p>During the asexual replication cycle of the malaria parasite Plasmodium falciparum, the RNA-binding protein PfAlba1 binds and stabilizes a subset of transcripts for translation at a later time point.Please see related Research article: http://www.genomebiology.com/2015/16/1/212. </p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"221"},"PeriodicalIF":12.3,"publicationDate":"2015-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0795-x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34073537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-08DOI: 10.1186/s13059-015-0782-2
Doron Betel, Nicholas D Socci, Raya Khanin, Christopher E Mason, Franck Rapaport
{"title":"Response to Zhou and Robinson.","authors":"Doron Betel, Nicholas D Socci, Raya Khanin, Christopher E Mason, Franck Rapaport","doi":"10.1186/s13059-015-0782-2","DOIUrl":"https://doi.org/10.1186/s13059-015-0782-2","url":null,"abstract":"","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"223"},"PeriodicalIF":12.3,"publicationDate":"2015-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0782-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34140324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-07DOI: 10.1186/s13059-015-0783-1
Fabian Schmich, Ewa Szczurek, Saskia Kreibich, Sabrina Dilling, Daniel Andritschke, Alain Casanova, Shyan Huey Low, Simone Eicher, Simone Muntwiler, Mario Emmenlauer, Pauli Rämö, Raquel Conde-Alvarez, Christian von Mering, Wolf-Dietrich Hardt, Christoph Dehio, Niko Beerenwinkel
{"title":"gespeR: a statistical model for deconvoluting off-target-confounded RNA interference screens.","authors":"Fabian Schmich, Ewa Szczurek, Saskia Kreibich, Sabrina Dilling, Daniel Andritschke, Alain Casanova, Shyan Huey Low, Simone Eicher, Simone Muntwiler, Mario Emmenlauer, Pauli Rämö, Raquel Conde-Alvarez, Christian von Mering, Wolf-Dietrich Hardt, Christoph Dehio, Niko Beerenwinkel","doi":"10.1186/s13059-015-0783-1","DOIUrl":"https://doi.org/10.1186/s13059-015-0783-1","url":null,"abstract":"<p><p>Small interfering RNAs (siRNAs) exhibit strong off-target effects, which confound the gene-level interpretation of RNA interference screens and thus limit their utility for functional genomics studies. Here, we present gespeR, a statistical model for reconstructing individual, gene-specific phenotypes. Using 115,878 siRNAs, single and pooled, from three companies in three pathogen infection screens, we demonstrate that deconvolution of image-based phenotypes substantially improves the reproducibility between independent siRNA sets targeting the same genes. Genes selected and prioritized by gespeR are validated and shown to constitute biologically relevant components of pathogen entry mechanisms and TGF-β signaling. gespeR is available as a Bioconductor R-package. </p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"220"},"PeriodicalIF":12.3,"publicationDate":"2015-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0783-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34069744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genome BiologyPub Date : 2015-10-02DOI: 10.1186/s13059-015-0774-2
Angela D Kelsey, Christine Yang, Danny Leung, Jakub Minks, Thomas Dixon-McDougall, Sarah E L Baldry, Aaron B Bogutz, Louis Lefebvre, Carolyn J Brown
{"title":"Impact of flanking chromosomal sequences on localization and silencing by the human non-coding RNA XIST.","authors":"Angela D Kelsey, Christine Yang, Danny Leung, Jakub Minks, Thomas Dixon-McDougall, Sarah E L Baldry, Aaron B Bogutz, Louis Lefebvre, Carolyn J Brown","doi":"10.1186/s13059-015-0774-2","DOIUrl":"https://doi.org/10.1186/s13059-015-0774-2","url":null,"abstract":"<p><strong>Background: </strong>X-chromosome inactivation is a striking example of epigenetic silencing in which expression of the long non-coding RNA XIST initiates the heterochromatinization and silencing of one of the pair of X chromosomes in mammalian females. To understand how the RNA can establish silencing across millions of basepairs of DNA we have modelled the process by inducing expression of XIST from nine different locations in human HT1080 cells.</p><p><strong>Results: </strong>Localization of XIST, depletion of Cot-1 RNA, perinuclear localization, and ubiquitination of H2A occurs at all sites examined, while recruitment of H3K9me3 was not observed. Recruitment of the heterochromatic features SMCHD1, macroH2A, H3K27me3, and H4K20me1 occurs independently of each other in an integration site-dependent manner. Silencing of flanking reporter genes occurs at all sites, but the spread of silencing to flanking endogenous human genes is variable in extent of silencing as well as extent of spread, with silencing able to skip regions. The spread of H3K27me3 and loss of H3K27ac correlates with the pre-existing levels of the modifications, and overall the extent of silencing correlates with the ability to recruit additional heterochromatic features.</p><p><strong>Conclusions: </strong>The non-coding RNA XIST functions as a cis-acting silencer when expressed from nine different locations throughout the genome. A hierarchy among the features of heterochromatin reveals the importance of interaction with the local chromatin neighborhood for optimal spread of silencing, as well as the independent yet cooperative nature of the establishment of heterochromatin by the non-coding XIST RNA.</p>","PeriodicalId":48922,"journal":{"name":"Genome Biology","volume":"16 ","pages":"208"},"PeriodicalIF":12.3,"publicationDate":"2015-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13059-015-0774-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34056785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}