A genome-wide screen for bacterial envelope biogenesis mutants identifies a novel factor involved in cell wall precursor metabolism.

abstract：:The human nuclear poly(A)-binding protein PABPN1 has been implicated in the decay of nuclear noncoding RNAs (ncRNAs). In addition, PABPN1 promotes hyperadenylation by stimulating poly(A)-polymerases (PAPα/γ), but this activity has not previously been linked to the decay of endogenous transcripts. Moreover, the mechani...

journal_title：PLoS genetics

authors： Bresson SM,Hunter OV,Hunter AC,Conrad NK

更新日期：2015-10-20 00:00:00

abstract：:In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We report that the mouse ortholog (Trip13) of pachytene checkpoint 2 (PCH2), an essential component of the synapsis checkpoint in...

journal_title：PLoS genetics

authors： Li XC,Schimenti JC

更新日期：2007-08-01 00:00:00

abstract：:Replicative DNA helicases expose the two strands of the double helix to the replication apparatus, but accessory helicases are often needed to help forks move past naturally occurring hard-to-replicate sites, such as tightly bound proteins, RNA/DNA hybrids, and DNA secondary structures. Although the Schizosaccharomyce...

journal_title：PLoS genetics

authors： McDonald KR,Guise AJ,Pourbozorgi-Langroudi P,Cristea IM,Zakian VA,Capra JA,Sabouri N

更新日期：2016-09-09 00:00:00

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:All living organisms exist in a precarious state of homeostasis that requires constant maintenance. A wide variety of stresses, including hypoxia, heat, and infection by pathogens perpetually threaten to imbalance this state. Organisms use a battery of defenses to mitigate damage and restore normal function. Previousl...

journal_title：PLoS genetics

authors： Tjahjono E,Kirienko NV

更新日期：2017-06-29 00:00:00

abstract：:Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 1...

journal_title：PLoS genetics

authors： Graff M,Scott RA,Justice AE,Young KL,Feitosa MF,Barata L,Winkler TW,Chu AY,Mahajan A,Hadley D,Xue L,Workalemahu T,Heard-Costa NL,den Hoed M,Ahluwalia TS,Qi Q,Ngwa JS,Renström F,Quaye L,Eicher JD,Hayes JE,Corneli

更新日期：2017-04-27 00:00:00

abstract：:The conserved protein kinase Sch9 is a central player in the nutrient-induced signaling network in yeast, although only few of its direct substrates are known. We now provide evidence that Sch9 controls the vacuolar proton pump (V-ATPase) to maintain cellular pH homeostasis and ageing. A synthetic sick phenotype arise...

journal_title：PLoS genetics

authors： Wilms T,Swinnen E,Eskes E,Dolz-Edo L,Uwineza A,Van Essche R,Rosseels J,Zabrocki P,Cameroni E,Franssens V,De Virgilio C,Smits GJ,Winderickx J

更新日期：2017-06-12 00:00:00

abstract：:Gene expression can be highly heterogeneous in isogenic cell populations. An extreme type of heterogeneity is the so-called bistable or bimodal expression, whereby a cell can differentiate into two alternative expression states. Stochastic fluctuations of protein levels, also referred to as noise, provide the necessar...

journal_title：PLoS genetics

authors： Gamba P,Jonker MJ,Hamoen LW

更新日期：2015-06-25 00:00:00

abstract：:A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

journal_title：PLoS genetics

authors： Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

更新日期：2008-04-25 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats a...

journal_title：PLoS genetics

authors： Krom YD,Thijssen PE,Young JM,den Hamer B,Balog J,Yao Z,Maves L,Snider L,Knopp P,Zammit PS,Rijkers T,van Engelen BG,Padberg GW,Frants RR,Tawil R,Tapscott SJ,van der Maarel SM

更新日期：2013-04-01 00:00:00

abstract：:Dynamic activity of signaling pathways, such as Notch, is vital to achieve correct development and homeostasis. However, most studies assess output many hours or days after initiation of signaling, once the outcome has been consolidated. Here we analyze genome-wide changes in transcript levels, binding of the Notch pa...

journal_title：PLoS genetics

authors： Housden BE,Fu AQ,Krejci A,Bernard F,Fischer B,Tavaré S,Russell S,Bray SJ

更新日期：2013-01-01 00:00:00

abstract：:Differences in transcriptional regulatory networks underlie much of the phenotypic variation observed across organisms. Changes to cis-regulatory elements are widely believed to be the predominant means by which regulatory networks evolve, yet examples of regulatory network divergence due to transcription factor (TF) ...

journal_title：PLoS genetics

authors： Nadimpalli S,Persikov AV,Singh M

更新日期：2015-03-06 00:00:00

abstract：:The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we teste...

journal_title：PLoS genetics

authors： Vijai J,Kirchhoff T,Schrader KA,Brown J,Dutra-Clarke AV,Manschreck C,Hansen N,Rau-Murthy R,Sarrel K,Przybylo J,Shah S,Cheguri S,Stadler Z,Zhang L,Paltiel O,Ben-Yehuda D,Viale A,Portlock C,Straus D,Lipkin SM,Lacher

更新日期：2013-01-01 00:00:00

abstract：:Elongator complex is required for formation of the side chains at position 5 of modified nucleosides 5-carbamoylmethyluridine (ncm⁵U₃₄), 5-methoxycarbonylmethyluridine (mcm⁵U₃₄), and 5-methoxycarbonylmethyl-2-thiouridine (mcm⁵s²U₃₄) at wobble position in tRNA. These modified nucleosides are important for efficient dec...

journal_title：PLoS genetics

authors： Chen C,Huang B,Eliasson M,Rydén P,Byström AS

更新日期：2011-09-01 00:00:00

abstract：:Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutatio...

journal_title：PLoS genetics

authors： Alur RP,Vijayasarathy C,Brown JD,Mehtani M,Onojafe IF,Sergeev YV,Boobalan E,Jones M,Tang K,Liu H,Xia CH,Gong X,Brooks BP

更新日期：2010-03-05 00:00:00

abstract：:Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon ...

journal_title：PLoS genetics

authors： Newman JC,Bailey AD,Fan HY,Pavelitz T,Weiner AM

更新日期：2008-03-21 00:00:00

abstract：:Ribosomes are the highly complex macromolecular assemblies dedicated to the synthesis of all cellular proteins from mRNA templates. The main principles underlying the making of ribosomes are conserved across eukaryotic organisms and this process has been studied in most detail in the yeast Saccharomyces cerevisiae. Ye...

journal_title：PLoS genetics

authors： Pillet B,García-Gómez JJ,Pausch P,Falquet L,Bange G,de la Cruz J,Kressler D

更新日期：2015-10-08 00:00:00

abstract：:Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centre...

journal_title：PLoS genetics

authors： Meyer E,Lim D,Pasha S,Tee LJ,Rahman F,Yates JR,Woods CG,Reik W,Maher ER

更新日期：2009-03-01 00:00:00

abstract：:Association mapping is a powerful approach for dissecting the genetic architecture of complex quantitative traits using high-density SNP markers in maize. Here, we expanded our association panel size from 368 to 513 inbred lines with 0.5 million high quality SNPs using a two-step data-imputation method which combines ...

journal_title：PLoS genetics

authors： Yang N,Lu Y,Yang X,Huang J,Zhou Y,Ali F,Wen W,Liu J,Li J,Yan J

更新日期：2014-09-11 00:00:00

abstract：:Positive Transcription Elongation Factor b (P-TEFb) is a kinase consisting of Cdk9 and Cyclin T that releases RNA Polymerase II (Pol II) into active elongation. It can assemble into a larger Super Elongation Complex (SEC) consisting of additional elongation factors. Here, we use a miRNA-based approach to knock down th...

journal_title：PLoS genetics

authors： Dahlberg O,Shilkova O,Tang M,Holmqvist PH,Mannervik M

更新日期：2015-02-13 00:00:00

abstract：:Caenorhabditis elegans SKN-1 (ortholog of mammalian Nrf1/2/3) is critical for oxidative stress resistance and promotes longevity under reduced insulin/IGF-1-like signaling (IIS), dietary restriction (DR), and normal conditions. SKN-1 inducibly activates genes involved in detoxification, protein homeostasis, and other ...

journal_title：PLoS genetics

authors： Wang J,Robida-Stubbs S,Tullet JM,Rual JF,Vidal M,Blackwell TK

更新日期：2010-08-05 00:00:00

abstract：:UTX (KDM6A) and UTY are homologous X and Y chromosome members of the Histone H3 Lysine 27 (H3K27) demethylase gene family. UTX can demethylate H3K27; however, in vitro assays suggest that human UTY has lost enzymatic activity due to sequence divergence. We produced mouse mutations in both Utx and Uty. Homozygous Utx m...

journal_title：PLoS genetics

authors： Shpargel KB,Sengoku T,Yokoyama S,Magnuson T

更新日期：2012-09-01 00:00:00

abstract：:A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differenti...

journal_title：PLoS genetics

authors： Cole SW

更新日期：2014-08-28 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In mos...

journal_title：PLoS genetics

authors： González-Vioque E,Torres-Torronteras J,Andreu AL,Martí R

更新日期：2011-03-01 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Hybrid genotypes have been repeatedly described among natural isolates of Leishmania, and the recovery of experimental hybrids from sand flies co-infected with different strains or species of Leishmania has formally demonstrated that members of the genus possess the machinery for genetic exchange. As neither gamete st...

journal_title：PLoS genetics

authors： Inbar E,Shaik J,Iantorno SA,Romano A,Nzelu CO,Owens K,Sanders MJ,Dobson D,Cotton JA,Grigg ME,Beverley SM,Sacks D

更新日期：2019-05-15 00:00:00

abstract：:Mating and gametogenesis are two essential components of animal reproduction. Gametogenesis must be modulated by the need for gametes, yet little is known of how mating, a process that utilizes gametes, may modulate the process of gametogenesis. Here, we report that mating stimulates female germline stem cell (GSC) pr...

journal_title：PLoS genetics

authors： Ameku T,Niwa R

更新日期：2016-06-16 00:00:00

abstract：:Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively...

journal_title：PLoS genetics

authors： Hendrickx G,Borra VM,Steenackers E,Yorgan TA,Hermans C,Boudin E,Waterval JJ,Jansen IDC,Aydemir TB,Kamerling N,Behets GJ,Plumeyer C,D'Haese PC,Busse B,Everts V,Lammens M,Mortier G,Cousins RJ,Schinke T,Stokroos RJ,M

更新日期：2018-04-05 00:00:00

abstract：:Thymine DNA glycosylase (TDG) functions in base excision repair, a DNA repair pathway that acts in a lesion-specific manner to correct individual damaged or altered bases. TDG preferentially catalyzes the removal of thymine and uracil paired with guanine, and is also active on 5-fluorouracil (5-FU) paired with adenine...

journal_title：PLoS genetics

authors： Sjolund A,Nemec AA,Paquet N,Prakash A,Sung P,Doublié S,Sweasy JB

更新日期：2014-11-06 00:00:00

abstract：:Systematic characterization of ẖybrid incompatibility (HI) between related species remains the key to understanding speciation. The genetic basis of HI has been intensively studied in Drosophila species, but remains largely unknown in other species, including nematodes, which is mainly due to the lack of a sister spec...

journal_title：PLoS genetics

authors： Bi Y,Ren X,Yan C,Shao J,Xie D,Zhao Z

更新日期：2015-02-18 00:00:00