Systematic association of genes to phenotypes by genome and literature mining.

Abstract:

:One of the major challenges of functional genomics is to unravel the connection between genotype and phenotype. So far no global analysis has attempted to explore those connections in the light of the large phenotypic variability seen in nature. Here, we use an unsupervised, systematic approach for associating genes and phenotypic characteristics that combines literature mining with comparative genome analysis. We first mine the MEDLINE literature database for terms that reflect phenotypic similarities of species. Subsequently we predict the likely genomic determinants: genes specifically present in the respective genomes. In a global analysis involving 92 prokaryotic genomes we retrieve 323 clusters containing a total of 2,700 significant gene-phenotype associations. Some clusters contain mostly known relationships, such as genes involved in motility or plant degradation, often with additional hypothetical proteins associated with those phenotypes. Other clusters comprise unexpected associations; for example, a group of terms related to food and spoilage is linked to genes predicted to be involved in bacterial food poisoning. Among the clusters, we observe an enrichment of pathogenicity-related associations, suggesting that the approach reveals many novel genes likely to play a role in infectious diseases.

journal_name

PLoS Biol

journal_title

PLoS biology

authors

Korbel JO,Doerks T,Jensen LJ,Perez-Iratxeta C,Kaczanowski S,Hooper SD,Andrade MA,Bork P

doi

10.1371/journal.pbio.0030134

keywords:

subject

Has Abstract

pub_date

2005-05-01 00:00:00

pages

e134

issue

5

eissn

1544-9173

issn

1545-7885

pii

04-PLBI-RA-0944R1

journal_volume

3

pub_type

杂志文章
  • Inter-subunit interactions drive divergent dynamics in mammalian and Plasmodium actin filaments.

    abstract::Cell motility is essential for protozoan and metazoan organisms and typically relies on the dynamic turnover of actin filaments. In metazoans, monomeric actin polymerises into usually long and stable filaments, while some protozoans form only short and highly dynamic actin filaments. These different dynamics are partl...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.2005345

    authors: Douglas RG,Nandekar P,Aktories JE,Kumar H,Weber R,Sattler JM,Singer M,Lepper S,Sadiq SK,Wade RC,Frischknecht F

    更新日期:2018-07-16 00:00:00

  • Nonheritable cellular variability accelerates the evolutionary processes of cancer.

    abstract::Recent cancer studies emphasize that genetic and heritable epigenetic changes drive the evolutionary rate of cancer progression and drug resistance. We discuss the ways in which nonheritable aspects of cellular variability may significantly increase evolutionary rate. Nonheritable variability arises by stochastic fluc...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001296

    authors: Frank SA,Rosner MR

    更新日期:2012-01-01 00:00:00

  • N-wasp is essential for the negative regulation of B cell receptor signaling.

    abstract::Negative regulation of receptor signaling is essential for controlling cell activation and differentiation. In B-lymphocytes, the down-regulation of B-cell antigen receptor (BCR) signaling is critical for suppressing the activation of self-reactive B cells; however, the mechanism underlying the negative regulation of ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001704

    authors: Liu C,Bai X,Wu J,Sharma S,Upadhyaya A,Dahlberg CI,Westerberg LS,Snapper SB,Zhao X,Song W

    更新日期:2013-11-01 00:00:00

  • Patterns of smallpox mortality in London, England, over three centuries.

    abstract::Smallpox is unique among infectious diseases in the degree to which it devastated human populations, its long history of control interventions, and the fact that it has been successfully eradicated. Mortality from smallpox in London, England was carefully documented, weekly, for nearly 300 years, providing a rare and ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000506

    authors: Krylova O,Earn DJD

    更新日期:2020-12-21 00:00:00

  • Parallel evolution of the genetic code in arthropod mitochondrial genomes.

    abstract::The genetic code provides the translation table necessary to transform the information contained in DNA into the language of proteins. In this table, a correspondence between each codon and each amino acid is established: tRNA is the main adaptor that links the two. Although the genetic code is nearly universal, sever...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.0040127

    authors: Abascal F,Posada D,Knight RD,Zardoya R

    更新日期:2006-05-01 00:00:00

  • Improving the trustworthiness, usefulness, and ethics of biomedical research through an innovative and comprehensive institutional initiative.

    abstract::The reproducibility crisis triggered worldwide initiatives to improve rigor, reproducibility, and transparency in biomedical research. There are many examples of scientists, journals, and funding agencies adopting responsible research practices. The QUEST (Quality-Ethics-Open Science-Translation) Center offers a uniqu...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000576

    authors: Strech D,Weissgerber T,Dirnagl U,QUEST Group.

    更新日期:2020-02-11 00:00:00

  • Misguided transcriptional elongation causes mixed lineage leukemia.

    abstract::Fusion proteins composed of the histone methyltransferase mixed-lineage leukemia (MLL) and a variety of unrelated fusion partners are highly leukemogenic. Despite their prevalence, particularly in pediatric acute leukemia, many molecular details of their transforming mechanism are unknown. Here, we provide mechanistic...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1000249

    authors: Mueller D,García-Cuéllar MP,Bach C,Buhl S,Maethner E,Slany RK

    更新日期:2009-11-01 00:00:00

  • Sonic Hedgehog promotes tumor cell survival by inhibiting CDON pro-apoptotic activity.

    abstract::The Hedgehog signaling is a determinant pathway for tumor progression. However, while inhibition of the Hedgehog canonical pathway-Patched-Smoothened-Gli-has proved efficient in human tumors with activating mutations in this pathway, recent clinical data have failed to show any benefit in other cancers, even though So...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001623

    authors: Delloye-Bourgeois C,Gibert B,Rama N,Delcros JG,Gadot N,Scoazec JY,Krauss R,Bernet A,Mehlen P

    更新日期:2013-01-01 00:00:00

  • Sir2-independent life span extension by calorie restriction in yeast.

    abstract::Calorie restriction slows aging and increases life span in many organisms. In yeast, a mechanistic explanation has been proposed whereby calorie restriction slows aging by activating Sir2. Here we report the identification of a Sir2-independent pathway responsible for a majority of the longevity benefit associated wit...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.0020296

    authors: Kaeberlein M,Kirkland KT,Fields S,Kennedy BK

    更新日期:2004-09-01 00:00:00

  • Control over single-cell distribution of G1 lengths by WNT governs pluripotency.

    abstract::The link between single-cell variation and population-level fate choices lacks a mechanistic explanation despite extensive observations of gene expression and epigenetic variation among individual cells. Here, we found that single human embryonic stem cells (hESCs) have different and biased differentiation potentials ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000453

    authors: Jang J,Han D,Golkaram M,Audouard M,Liu G,Bridges D,Hellander S,Chialastri A,Dey SS,Petzold LR,Kosik KS

    更新日期:2019-09-26 00:00:00

  • The interaction between a sexually transferred steroid hormone and a female protein regulates oogenesis in the malaria mosquito Anopheles gambiae.

    abstract::Molecular interactions between male and female factors during mating profoundly affect the reproductive behavior and physiology of female insects. In natural populations of the malaria mosquito Anopheles gambiae, blood-fed females direct nutritional resources towards oogenesis only when inseminated. Here we show that ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001695

    authors: Baldini F,Gabrieli P,South A,Valim C,Mancini F,Catteruccia F

    更新日期:2013-10-01 00:00:00

  • Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

    abstract::A large fraction of genome variation between individuals is comprised of submicroscopic copy number variation of genomic DNA segments. We assessed the relative contribution of structural changes and gene dosage alterations on phenotypic outcomes with mouse models of Smith-Magenis and Potocki-Lupski syndromes. We pheno...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1000543

    authors: Ricard G,Molina J,Chrast J,Gu W,Gheldof N,Pradervand S,Schütz F,Young JI,Lupski JR,Reymond A,Walz K

    更新日期:2010-11-23 00:00:00

  • Assessing evidence for a pervasive alteration in tropical tree communities.

    abstract::In Amazonian tropical forests, recent studies have reported increases in aboveground biomass and in primary productivity, as well as shifts in plant species composition favouring fast-growing species over slow-growing ones. This pervasive alteration of mature tropical forests was attributed to global environmental cha...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.0060045

    authors: Chave J,Condit R,Muller-Landau HC,Thomas SC,Ashton PS,Bunyavejchewin S,Co LL,Dattaraja HS,Davies SJ,Esufali S,Ewango CE,Feeley KJ,Foster RB,Gunatilleke N,Gunatilleke S,Hall P,Hart TB,Hernández C,Hubbell SP,Itoh A,

    更新日期:2008-03-04 00:00:00

  • Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.

    abstract::A lysosomal storage disease (LSD) results from deficient lysosomal enzyme activity, thus the substrate of the mutant enzyme accumulates in the lysosome, leading to pathology. In many but not all LSDs, the clinically most important mutations compromise the cellular folding of the enzyme, subjecting it to endoplasmic re...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.0060026

    authors: Mu TW,Fowler DM,Kelly JW

    更新日期:2008-02-01 00:00:00

  • TURAN and EVAN mediate pollen tube reception in Arabidopsis Synergids through protein glycosylation.

    abstract::Pollen tube (PT) reception in flowering plants describes the crosstalk between the male and female gametophytes upon PT arrival at the synergid cells of the ovule. It leads to PT growth arrest, rupture, and sperm cell release, and is thus essential to ensure double fertilization. Here, we describe TURAN (TUN) and EVAN...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1002139

    authors: Lindner H,Kessler SA,Müller LM,Shimosato-Asano H,Boisson-Dernier A,Grossniklaus U

    更新日期:2015-04-28 00:00:00

  • Recombination modulates how selection affects linked sites in Drosophila.

    abstract::One of the most influential observations in molecular evolution has been a strong association between local recombination rate and nucleotide polymorphisms across the genome. This is interpreted as evidence for ubiquitous natural selection. The alternative explanation, that recombination is mutagenic, has been rejecte...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001422

    authors: McGaugh SE,Heil CS,Manzano-Winkler B,Loewe L,Goldstein S,Himmel TL,Noor MA

    更新日期:2012-01-01 00:00:00

  • Neurotransmitter-mediated activity spatially controls neuronal migration in the zebrafish cerebellum.

    abstract::Neuronal migration during embryonic development contributes to functional brain circuitry. Many neurons migrate in morphologically distinct stages that coincide with differentiation, requiring tight spatial regulation. It had been proposed that neurotransmitter-mediated activity could exert this control. Here, we demo...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.2002226

    authors: Theisen U,Hennig C,Ring T,Schnabel R,Köster RW

    更新日期:2018-01-04 00:00:00

  • Role of a novel PH-kinase domain interface in PKB/Akt regulation: structural mechanism for allosteric inhibition.

    abstract::Protein kinase B (PKB/Akt) belongs to the AGC superfamily of related serine/threonine protein kinases. It is a key regulator downstream of various growth factors and hormones and is involved in malignant transformation and chemo-resistance. Full-length PKB protein has not been crystallised, thus studying the molecular...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1000017

    authors: Calleja V,Laguerre M,Parker PJ,Larijani B

    更新日期:2009-01-20 00:00:00

  • Breast Cancer Patients Have Greatly Benefited from the Progress in Molecular Oncology.

    abstract::Cancer research has become a global enterprise, and the number of researchers, as well as the cost for their activities, has skyrocketed. The budget for the National Cancer Institute of the United States National Institutes of Health alone was US$5.2 billion in 2015. Since most of the research is funded by public mone...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.2000314

    authors: Groner BL,Hynes NE

    更新日期:2016-09-29 00:00:00

  • RNA mimicry by the fap7 adenylate kinase in ribosome biogenesis.

    abstract::During biogenesis of the 40S and 60S ribosomal subunits, the pre-40S particles are exported to the cytoplasm prior to final cleavage of the 20S pre-rRNA to mature 18S rRNA. Amongst the factors involved in this maturation step, Fap7 is unusual, as it both interacts with ribosomal protein Rps14 and harbors adenylate kin...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001860

    authors: Loc'h J,Blaud M,Réty S,Lebaron S,Deschamps P,Bareille J,Jombart J,Robert-Paganin J,Delbos L,Chardon F,Zhang E,Charenton C,Tollervey D,Leulliot N

    更新日期:2014-05-13 00:00:00

  • Machine learning helps identify CHRONO as a circadian clock component.

    abstract::Over the last decades, researchers have characterized a set of "clock genes" that drive daily rhythms in physiology and behavior. This arduous work has yielded results with far-reaching consequences in metabolic, psychiatric, and neoplastic disorders. Recent attempts to expand our understanding of circadian regulation...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1001840

    authors: Anafi RC,Lee Y,Sato TK,Venkataraman A,Ramanathan C,Kavakli IH,Hughes ME,Baggs JE,Growe J,Liu AC,Kim J,Hogenesch JB

    更新日期:2014-04-15 00:00:00

  • Correction: Selection and characterization of ultrahigh potency designed ankyrin repeat protein inhibitors of C. difficile toxin B.

    abstract::[This corrects the article DOI: 10.1371/journal.pbio.3000311.]. ...

    journal_title:PLoS biology

    pub_type: 已发布勘误

    doi:10.1371/journal.pbio.3000514

    authors: Simeon R,Jiang M,Chamoun-Emanuelli AM,Yu H,Zhang Y,Meng R,Peng Z,Jakana J,Zhang J,Feng H,Chen Z

    更新日期:2019-10-04 00:00:00

  • Developing a modern data workflow for regularly updated data.

    abstract::Over the past decade, biology has undergone a data revolution in how researchers collect data and the amount of data being collected. An emerging challenge that has received limited attention in biology is managing, working with, and providing access to data under continual active collection. Regularly updated data pr...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000125

    authors: Yenni GM,Christensen EM,Bledsoe EK,Supp SR,Diaz RM,White EP,Ernest SKM

    更新日期:2019-01-29 00:00:00

  • Highly divergent mitochondrial ATP synthase complexes in Tetrahymena thermophila.

    abstract::The F-type ATP synthase complex is a rotary nano-motor driven by proton motive force to synthesize ATP. Its F(1) sector catalyzes ATP synthesis, whereas the F(o) sector conducts the protons and provides a stator for the rotary action of the complex. Components of both F(1) and F(o) sectors are highly conserved across ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1000418

    authors: Balabaskaran Nina P,Dudkina NV,Kane LA,van Eyk JE,Boekema EJ,Mather MW,Vaidya AB

    更新日期:2010-07-13 00:00:00

  • Translation repression in human cells by microRNA-induced gene silencing requires RCK/p54.

    abstract::RNA interference is triggered by double-stranded RNA that is processed into small interfering RNAs (siRNAs) by Dicer enzyme. Endogenously, RNA interference triggers are created from small noncoding RNAs called microRNAs (miRNAs). RNA-induced silencing complexes (RISC) in human cells can be programmed by exogenously in...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.0040210

    authors: Chu CY,Rana TM

    更新日期:2006-07-01 00:00:00

  • Drosophila melanogaster establishes a species-specific mutualistic interaction with stable gut-colonizing bacteria.

    abstract::Animals live together with diverse bacteria that can impact their biology. In Drosophila melanogaster, gut-associated bacterial communities are relatively simple in composition but also have a strong impact on host development and physiology. It is generally assumed that gut bacteria in D. melanogaster are transient a...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.2005710

    authors: Pais IS,Valente RS,Sporniak M,Teixeira L

    更新日期:2018-07-05 00:00:00

  • Heterochromatin delays CRISPR-Cas9 mutagenesis but does not influence the outcome of mutagenic DNA repair.

    abstract::Genome editing occurs in the context of chromatin, which is heterogeneous in structure and function across the genome. Chromatin heterogeneity is thought to affect genome editing efficiency, but this has been challenging to quantify due to the presence of confounding variables. Here, we develop a method that exploits ...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.2005595

    authors: Kallimasioti-Pazi EM,Thelakkad Chathoth K,Taylor GC,Meynert A,Ballinger T,Kelder MJE,Lalevée S,Sanli I,Feil R,Wood AJ

    更新日期:2018-12-12 00:00:00

  • Framing the discussion of microorganisms as a facet of social equity in human health.

    abstract::What do "microbes" have to do with social equity? These microorganisms are integral to our health, that of our natural environment, and even the "health" of the environments we build. The loss, gain, and retention of microorganisms-their flow between humans and the environment-can greatly impact our health. It is well...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000536

    authors: Ishaq SL,Rapp M,Byerly R,McClellan LS,O'Boyle MR,Nykanen A,Fuller PJ,Aas C,Stone JM,Killpatrick S,Uptegrove MM,Vischer A,Wolf H,Smallman F,Eymann H,Narode S,Stapleton E,Cioffi CC,Tavalire HF

    更新日期:2019-11-26 00:00:00

  • WRAP53 is essential for Cajal body formation and for targeting the survival of motor neuron complex to Cajal bodies.

    abstract::The WRAP53 gene gives rise to a p53 antisense transcript that regulates p53. This gene also encodes a protein that directs small Cajal body-specific RNAs to Cajal bodies. Cajal bodies are nuclear organelles involved in diverse functions such as processing ribonucleoproteins important for splicing. Here we identify the...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.1000521

    authors: Mahmoudi S,Henriksson S,Weibrecht I,Smith S,Söderberg O,Strömblad S,Wiman KG,Farnebo M

    更新日期:2010-11-02 00:00:00

  • The pregnant myometrium is epigenetically activated at contractility-driving gene loci prior to the onset of labor in mice.

    abstract::During gestation, uterine smooth muscle cells transition from a state of quiescence to one of contractility, but the molecular mechanisms underlying this transition at a genomic level are not well-known. To better understand these events, we evaluated the epigenetic landscape of the mouse myometrium during the pregnan...

    journal_title:PLoS biology

    pub_type: 杂志文章

    doi:10.1371/journal.pbio.3000710

    authors: Shchuka VM,Abatti LE,Hou H,Khader N,Dorogin A,Wilson MD,Shynlova O,Mitchell JA

    更新日期:2020-07-15 00:00:00