abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 00:00:00

abstract：:Two-component signaling systems (TCS) regulate bacterial responses to environmental signals through the process of protein phosphorylation. Specifically, sensor histidine kinases (SK) recognize signals and propagate the response via phosphorylation of a cognate response regulator (RR) that functions to initiate transc...

journal_title：PLoS genetics

authors： Bretl DJ,Ladd KM,Atkinson SN,Müller S,Kirby JR

更新日期：2018-10-22 00:00:00

abstract：:Short insertions, deletions (INDELs) and larger structural variants have been increasingly employed in genetic association studies, but few improvements over SNP-based association have been reported. In order to understand why this might be the case, we analysed two publicly available datasets and observed that 63% of...

journal_title：PLoS genetics

authors： Song B,Mott R,Gan X

更新日期：2018-10-16 00:00:00

abstract：:Although numerous genetic loci have been associated with coronary artery disease (CAD) with genome wide association studies, efforts are needed to identify the causal genes in these loci and link them into fundamental signaling pathways. Recent studies have investigated the disease mechanism of CAD associated gene SMA...

journal_title：PLoS genetics

authors： Iyer D,Zhao Q,Wirka R,Naravane A,Nguyen T,Liu B,Nagao M,Cheng P,Miller CL,Kim JB,Pjanic M,Quertermous T

更新日期：2018-10-11 00:00:00

abstract：:Almost 60 years ago, Severo Ochoa was awarded the Nobel Prize in Physiology or Medicine for his discovery of the enzymatic synthesis of RNA by polynucleotide phosphorylase (PNPase). Although this discovery provided an important tool for deciphering the genetic code, subsequent work revealed that the predominant functi...

journal_title：PLoS genetics

authors： Cameron TA,Matz LM,De Lay NR

更新日期：2018-10-11 00:00:00

abstract：:Genome-wide association studies have shown that pleiotropy is a common phenomenon that can potentially be exploited for enhanced detection of susceptibility loci. We propose heritability informed power optimization (HIPO) for conducting powerful pleiotropic analysis using summary-level association statistics. We find ...

journal_title：PLoS genetics

authors： Qi G,Chatterjee N

更新日期：2018-10-05 00:00:00

abstract：:GATA transcription factors play a crucial role in the regulation of immune functions across metazoans. In Caenorhabditis elegans, the GATA transcription factor ELT-2 is involved in the control of not only infections but also recovery after an infection. We identified RPT-6, part of the 19S proteasome subunit, as an EL...

journal_title：PLoS genetics

authors： Olaitan AO,Aballay A

更新日期：2018-09-28 00:00:00

abstract：:Topoisomerase 3α, a class I topoisomerase, consists of a TOPRIM domain, an active centre and a variable number of zinc-finger domains (ZFDs) at the C-terminus, in multicellular organisms. Whereas the functions of the TOPRIM domain and the active centre are known, the specific role of the ZFDs is still obscure. In cont...

journal_title：PLoS genetics

authors： Dorn A,Röhrig S,Papp K,Schröpfer S,Hartung F,Knoll A,Puchta H

更新日期：2018-09-17 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00

abstract：:The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...

journal_title：PLoS genetics

authors： Ta-Shma A,Hjeij R,Perles Z,Dougherty GW,Abu Zahira I,Letteboer SJF,Antony D,Darwish A,Mans DA,Spittler S,Edelbusch C,Cindrić S,Nöthe-Menchen T,Olbrich H,Stuhlmann F,Aprea I,Pennekamp P,Loges NT,Breuer O,Shaag A,Re

更新日期：2018-08-27 00:00:00

abstract：:Hexavalent chromium [Cr(VI)] damages DNA and causes cancer, but it is unclear which DNA damage responses (DDRs) most critically protect cells from chromate toxicity. Here, genome-wide quantitative functional profiling, DDR measurements and genetic interaction assays in Schizosaccharomyces pombe reveal a chromate toxic...

journal_title：PLoS genetics

authors： Ganguly A,Guo L,Sun L,Suo F,Du LL,Russell P

更新日期：2018-08-27 00:00:00

abstract：:Synonymous mutations do not alter the specified amino acid but may alter the structure or function of an mRNA in ways that impact fitness. There are few examples in the literature, however, in which the effects of synonymous mutations on microbial growth rates have been measured, and even fewer for which the underlyin...

journal_title：PLoS genetics

authors： Kristofich J,Morgenthaler AB,Kinney WR,Ebmeier CC,Snyder DJ,Old WM,Cooper VS,Copley SD

更新日期：2018-08-27 00:00:00

abstract：:In metazoans, apoptotic cells are swiftly engulfed by phagocytes and degraded inside phagosomes. Multiple small GTPases in the Rab family are known to function in phagosome maturation by regulating vesicle trafficking. We discovered rab-35 as a new gene important for apoptotic cell clearance from a genetic screen targ...

journal_title：PLoS genetics

authors： Haley R,Wang Y,Zhou Z

更新日期：2018-08-23 00:00:00

abstract：:In Drosophila, 50 classes of olfactory receptor neurons (ORNs) connect to 50 class-specific and uniquely positioned glomeruli in the antennal lobe. Despite the identification of cell surface receptors regulating axon guidance, how ORN axons sort to form 50 stereotypical glomeruli remains unclear. Here we show that the...

journal_title：PLoS genetics

authors： Barish S,Nuss S,Strunilin I,Bao S,Mukherjee S,Jones CD,Volkan PC

更新日期：2018-08-13 00:00:00

abstract：:Variation in DNA methylation is being increasingly associated with health and disease outcomes. Although DNA methylation is hypothesized to be a mechanism by which both genetic and non-genetic factors can influence the regulation of gene expression, little is known about the extent to which DNA methylation at specific...

journal_title：PLoS genetics

authors： Hannon E,Knox O,Sugden K,Burrage J,Wong CCY,Belsky DW,Corcoran DL,Arseneault L,Moffitt TE,Caspi A,Mill J

更新日期：2018-08-09 00:00:00

abstract：:Cis-regulation plays an essential role in the control of gene expression, and is particularly complex and poorly understood for developmental genes, which are subject to multiple levels of modulation. In this study, we performed a global analysis of the cis-acting elements involved in the control of the zebrafish deve...

journal_title：PLoS genetics

authors： Torbey P,Thierion E,Collombet S,de Cian A,Desmarquet-Trin-Dinh C,Dura M,Concordet JP,Charnay P,Gilardi-Hebenstreit P

更新日期：2018-08-06 00:00:00

abstract：:Histidine kinase QseE and response regulator QseF compose a two-component system in Enterobacteriaceae. In Escherichia coli K-12 QseF activates transcription of glmY and of rpoE from Sigma 54-dependent promoters by binding to upstream activating sequences. Small RNA GlmY and RpoE (Sigma 24) are important regulators of...

journal_title：PLoS genetics

authors： Göpel Y,Görke B

更新日期：2018-07-24 00:00:00

abstract：:Synthetic biology aims at (re-)programming living cells like computers to perform new functions for a variety of applications. Initial work rested on transcription factors, but regulatory RNAs have recently gained much attention due to their high programmability. However, functional circuits mainly implemented with re...

journal_title：PLoS genetics

authors： Rosado A,Cordero T,Rodrigo G

更新日期：2018-07-19 00:00:00

abstract：:In Drosophila, ubiquitous expression of a short Cyclin G isoform generates extreme developmental noise estimated by fluctuating asymmetry (FA), providing a model to tackle developmental stability. This transcriptional cyclin interacts with chromatin regulators of the Enhancer of Trithorax and Polycomb (ETP) and Polyco...

journal_title：PLoS genetics

authors： Dardalhon-Cuménal D,Deraze J,Dupont CA,Ribeiro V,Coléno-Costes A,Pouch J,Le Crom S,Thomassin H,Debat V,Randsholt NB,Peronnet F

更新日期：2018-07-11 00:00:00

abstract：:Invasion of epithelial cells by Salmonella enterica requires expression of genes located in the pathogenicity island I (SPI-1). The expression of SPI-1 genes is very tightly regulated and activated only under specific conditions. Most studies have focused on the regulatory pathways that induce SPI-1 expression. Here, ...

journal_title：PLoS genetics

authors： El Mouali Y,Gaviria-Cantin T,Sánchez-Romero MA,Gibert M,Westermann AJ,Vogel J,Balsalobre C

更新日期：2018-06-07 00:00:00

abstract：:In enterobacteria, the Rcs system (Regulator of capsule synthesis) monitors envelope integrity and induces a stress response when damages occur in the outer membrane or in the peptidoglycan layer. Built around a two-component system, Rcs controls gene expression via a cascade of phosphoryl transfer reactions. Being pa...

journal_title：PLoS genetics

authors： Hussein NA,Cho SH,Laloux G,Siam R,Collet JF

更新日期：2018-05-31 00:00:00

abstract：:Genome duplications are important evolutionary events that impact the rate and spectrum of beneficial mutations and thus the rate of adaptation. Laboratory evolution experiments initiated with haploid Saccharomyces cerevisiae cultures repeatedly experience whole-genome duplication (WGD). We report recurrent genome dup...

journal_title：PLoS genetics

authors： Fisher KJ,Buskirk SW,Vignogna RC,Marad DA,Lang GI

更新日期：2018-05-25 00:00:00

abstract：:As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd....

journal_title：PLoS genetics

authors： Rivas MA,Avila BE,Koskela J,Huang H,Stevens C,Pirinen M,Haritunians T,Neale BM,Kurki M,Ganna A,Graham D,Glaser B,Peter I,Atzmon G,Barzilai N,Levine AP,Schiff E,Pontikos N,Weisburd B,Lek M,Karczewski KJ,Bloom J,

更新日期：2018-05-24 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1000832.]. ...

journal_title：PLoS genetics

authors： Clark MJ,Homer N,O'Connor BD,Chen Z,Eskin A,Lee H,Merriman B,Nelson SF

更新日期：2018-05-16 00:00:00

abstract：:Polymyxin is the last line of defense against severe infections caused by carbapenem-resistant gram-negative pathogens. The emergence of transferable MCR-1/2 polymyxin resistance greatly challenges the renewed interest in colistin (polymyxin E) for clinical treatments. Recent studies have suggested that Moraxella spec...

journal_title：PLoS genetics

authors： Wei W,Srinivas S,Lin J,Tang Z,Wang S,Ullah S,Kota VG,Feng Y

更新日期：2018-05-14 00:00:00

abstract：:The circadian clock coordinates physiology and metabolism. mTOR (mammalian/mechanistic target of rapamycin) is a major intracellular sensor that integrates nutrient and energy status to regulate protein synthesis, metabolism, and cell growth. Previous studies have identified a key role for mTOR in regulating photic en...

journal_title：PLoS genetics

authors： Ramanathan C,Kathale ND,Liu D,Lee C,Freeman DA,Hogenesch JB,Cao R,Liu AC

更新日期：2018-05-11 00:00:00

abstract：:During neural circuit formation, most axons are guided to complex environments, coming into contact with multiple potential synaptic partners. However, it is critical that they recognize specific neurons with which to form synapses. Here, we utilize the split GFP-based marker Neuroligin-1 GFP Reconstitution Across Syn...

journal_title：PLoS genetics

authors： Varshney A,Benedetti K,Watters K,Shankar R,Tatarakis D,Coto Villa D,Magallanes K,Agenor V,Wung W,Farah F,Ali N,Le N,Pyle J,Farooqi A,Kieu Z,Bremer M,VanHoven M

更新日期：2018-05-09 00:00:00

abstract：:Chronic inflammation promotes oncogenic transformation and tumor progression. Many inflammatory agents also generate a toxic microenvironment, implying that adaptive mechanisms must be deployed for cells to survive and undergo transformation in such unfavorable contexts. A paradigmatic case is represented by cancers o...

journal_title：PLoS genetics

authors： Collino A,Termanini A,Nicoli P,Diaferia G,Polletti S,Recordati C,Castiglioni V,Caruso D,Mitro N,Natoli G,Ghisletti S

更新日期：2018-05-07 00:00:00

abstract：:Convergent phenotypic evolution is often caused by recurrent changes at particular nodes in the underlying gene regulatory networks (GRNs). The genes at such evolutionary 'hotspots' are thought to maximally affect the phenotype with minimal pleiotropic consequences. This has led to the suggestion that if a GRN is unde...

journal_title：PLoS genetics

authors： Kittelmann S,Buffry AD,Franke FA,Almudi I,Yoth M,Sabaris G,Couso JP,Nunes MDS,Frankel N,Gómez-Skarmeta JL,Pueyo-Marques J,Arif S,McGregor AP

更新日期：2018-05-03 00:00:00

abstract：:Craniofacial abnormalities, including facial skeletal defects, comprise approximately one-third of all birth defects in humans. Since most bones in the face derive from cranial neural crest cells (CNCCs), which are multipotent stem cells, craniofacial bone disorders are largely attributed to defects in CNCCs. However,...

journal_title：PLoS genetics

authors： Kitami K,Kitami M,Kaku M,Wang B,Komatsu Y

更新日期：2018-05-02 00:00:00

abstract：:A cascade of alternative sigma factors directs developmental gene expression during spore formation by the bacterium Bacillus subtilis. As the spore develops, a tightly regulated switch occurs in which the early-acting sigma factor σF is replaced by the late-acting sigma factor σG. The gene encoding σG (sigG) is trans...

journal_title：PLoS genetics

authors： Mearls EB,Jackter J,Colquhoun JM,Farmer V,Matthews AJ,Murphy LS,Fenton C,Camp AH

更新日期：2018-04-27 00:00:00

abstract：:Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disru...

journal_title：PLoS genetics

authors： Martínez-Pizarro A,Dembic M,Pérez B,Andresen BS,Desviat LR

更新日期：2018-04-23 00:00:00

abstract：:Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations ...

journal_title：PLoS genetics

authors： Yehia L,Ni Y,Sesock K,Niazi F,Fletcher B,Chen HJL,LaFramboise T,Eng C

更新日期：2018-04-23 00:00:00

abstract：:Vegetative phase change is regulated by a decrease in the abundance of the miRNAs, miR156 and miR157, and the resulting increase in the expression of their targets, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) transcription factors. To determine how miR156/miR157 specify the quantitative and qualitative changes in lea...

journal_title：PLoS genetics

authors： He J,Xu M,Willmann MR,McCormick K,Hu T,Yang L,Starker CG,Voytas DF,Meyers BC,Poethig RS

更新日期：2018-04-19 00:00:00

abstract：:Wnt signaling provides a paradigm for cell-cell signals that regulate embryonic development and stem cell homeostasis and are inappropriately activated in cancers. The tumor suppressors APC and Axin form the core of the multiprotein destruction complex, which targets the Wnt-effector beta-catenin for phosphorylation, ...

journal_title：PLoS genetics

authors： Schaefer KN,Bonello TT,Zhang S,Williams CE,Roberts DM,McKay DJ,Peifer M

更新日期：2018-04-11 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：:For many decades, Salmonella enterica has been subdivided by serological properties into serovars or further subdivided for epidemiological tracing by a variety of diagnostic tests with higher resolution. Recently, it has been proposed that so-called eBurst groups (eBGs) based on the alleles of seven housekeeping gene...

journal_title：PLoS genetics

authors： Alikhan NF,Zhou Z,Sergeant MJ,Achtman M

更新日期：2018-04-05 00:00:00

abstract：:During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate ...

journal_title：PLoS genetics

authors： Natarajan C,Jendroszek A,Kumar A,Weber RE,Tame JRH,Fago A,Storz JF

更新日期：2018-04-02 00:00:00

abstract：:Across phylogeny, glutamate (Glu) signaling plays a critical role in regulating neural excitability, thus supporting many complex behaviors. Perturbed synaptic and extrasynaptic Glu homeostasis in the human brain has been implicated in multiple neuropsychiatric and neurodegenerative disorders including Parkinson's dis...

journal_title：PLoS genetics

authors： Gibson CL,Balbona JT,Niedzwiecki A,Rodriguez P,Nguyen KCQ,Hall DH,Blakely RD

更新日期：2018-03-28 00:00:00

abstract：:The C. elegans ortholog of mammalian calsyntenins, CASY-1, is an evolutionarily conserved type-I transmembrane protein that is highly enriched in the nervous system. Mammalian calsyntenins are strongly expressed at inhibitory synapses, but their role in synapse development and function is still elusive. Here, we repor...

journal_title：PLoS genetics

authors： Thapliyal S,Vasudevan A,Dong Y,Bai J,Koushika SP,Babu K

更新日期：2018-03-12 00:00:00