The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.

abstract：:Ribosome assembly cofactors are widely conserved across all domains of life. One such group, the ribosome-associated GTPases (RA-GTPase), act as molecular switches to coordinate ribosome assembly. We previously identified the Staphylococcus aureus RA-GTPase Era as a target for the stringent response alarmone (p)ppGpp,...

journal_title：PLoS genetics

authors： Wood A,Irving SE,Bennison DJ,Corrigan RM

更新日期：2019-08-29 00:00:00

abstract：:Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of individuals and for identifying trait-associated variants. Nevertheless, GWAS often leave much of the trait heritability unexplained. We hypothesized that some of this ...

journal_title：PLoS genetics

authors： Sanna S,Li B,Mulas A,Sidore C,Kang HM,Jackson AU,Piras MG,Usala G,Maninchedda G,Sassu A,Serra F,Palmas MA,Wood WH 3rd,Njølstad I,Laakso M,Hveem K,Tuomilehto J,Lakka TA,Rauramaa R,Boehnke M,Cucca F,Uda M,Schles

更新日期：2011-07-01 00:00:00

abstract：:The Unfolded Protein Response (UPR) maintains homeostasis in the endoplasmic reticulum (ER) and defends against ER stress, an underlying factor in various human diseases. During the UPR, numerous genes are activated that sustain and protect the ER. These responses are known to involve the canonical UPR transcription f...

journal_title：PLoS genetics

authors： Glover-Cutter KM,Lin S,Blackwell TK

更新日期：2013-01-01 00:00:00

abstract：:In the enterobacterial species Escherichia coli and Salmonella enterica, expression of horizontally acquired genes with a higher than average AT content is repressed by the nucleoid-associated protein H-NS. A classical example of an H-NS-repressed locus is the bgl (aryl-beta,D-glucoside) operon of E. coli. This locus ...

journal_title：PLoS genetics

authors： Sankar TS,Neelakanta G,Sangal V,Plum G,Achtman M,Schnetz K

更新日期：2009-03-01 00:00:00

abstract：:The contribution of MEF2 TFs to the tumorigenic process is still mysterious. Here we clarify that MEF2 can support both pro-oncogenic or tumor suppressive activities depending on the interaction with co-activators or co-repressors partners. Through these interactions MEF2 supervise histone modifications associated wit...

journal_title：PLoS genetics

authors： Di Giorgio E,Franforte E,Cefalù S,Rossi S,Dei Tos AP,Brenca M,Polano M,Maestro R,Paluvai H,Picco R,Brancolini C

更新日期：2017-04-18 00:00:00

abstract：:Malaria parasites follow a complex life cycle that consists of multiple stages that span from the human host to the mosquito vector. Among the species causing malaria, Plasmodium falciparum is the most lethal, with clinical symptoms manifesting during the intraerythrocytic developmental cycle (IDC). During the IDC, P....

journal_title：PLoS genetics

authors： Walzer KA,Fradin H,Emerson LY,Corcoran DL,Chi JT

更新日期：2019-12-19 00:00:00

abstract：:Mollicutes is a class of parasitic bacteria that have evolved from a common Firmicutes ancestor mostly by massive genome reduction. With genomes under 1 Mbp in size, most Mollicutes species retain the capacity to replicate and grow autonomously. The major goal of this work was to identify the minimal set of proteins t...

journal_title：PLoS genetics

authors： Grosjean H,Breton M,Sirand-Pugnet P,Tardy F,Thiaucourt F,Citti C,Barré A,Yoshizawa S,Fourmy D,de Crécy-Lagard V,Blanchard A

更新日期：2014-05-08 00:00:00

abstract：:Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a po...

journal_title：PLoS genetics

authors： Simsek D,Brunet E,Wong SY,Katyal S,Gao Y,McKinnon PJ,Lou J,Zhang L,Li J,Rebar EJ,Gregory PD,Holmes MC,Jasin M

更新日期：2011-06-01 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:The evolution of metazoans from their choanoflagellate-like unicellular ancestor coincided with the acquisition of novel biological functions to support a multicellular lifestyle, and eventually, the unique cellular and physiological demands of differentiated cell types such as those forming the nervous, muscle and im...

journal_title：PLoS genetics

authors： Frédéric MY,Lundin VF,Whiteside MD,Cueva JG,Tu DK,Kang SY,Singh H,Baillie DL,Hutter H,Goodman MB,Brinkman FS,Leroux MR

更新日期：2013-01-01 00:00:00

abstract：:The phenotypic outcome of a mutation cannot be simply mapped onto the underlying DNA variant. Instead, the phenotype is a function of the allele, the genetic background in which it occurs and the environment where the mutational effects are expressed. While the influence of genetic background on the expressivity of in...

journal_title：PLoS genetics

authors： Chari S,Dworkin I

更新日期：2013-01-01 00:00:00

abstract：:A role for variant histone H2A.Z in gene expression is now well established but little is known about the mechanisms by which it operates. Using a combination of ChIP-chip, knockdown and expression profiling experiments, we show that upon gene induction, human H2A.Z associates with gene promoters and helps in recruiti...

journal_title：PLoS genetics

authors： Hardy S,Jacques PE,Gévry N,Forest A,Fortin ME,Laflamme L,Gaudreau L,Robert F

更新日期：2009-10-01 00:00:00

abstract：:Cooperative transcription factor binding at cis-regulatory sites in the genome drives robust eukaryotic gene expression, and many such sites must be coordinated to produce coherent transcriptional programs. The transcriptional program leading to motile cilia formation requires members of the DNA-binding forkhead (Fox)...

journal_title：PLoS genetics

authors： Quigley IK,Kintner C

更新日期：2017-01-19 00:00:00

abstract：:Plants utilize an innate immune system to protect themselves from disease. While many molecular components of plant innate immunity resemble the innate immunity of animals, plants also have evolved a number of truly unique defense mechanisms, particularly at the physiological level. Plant's flexible developmental prog...

journal_title：PLoS genetics

authors： Patharkar OR,Gassmann W,Walker JC

更新日期：2017-12-18 00:00:00

abstract：:Cytokinesis terminates mitosis, resulting in separation of the two sister cells. Septins, a conserved family of GTP-binding cytoskeletal proteins, are an absolute requirement for cytokinesis in budding yeast. We demonstrate that septin-dependence of mammalian cytokinesis differs greatly between cell types: genetic los...

journal_title：PLoS genetics

authors： Menon MB,Sawada A,Chaturvedi A,Mishra P,Schuster-Gossler K,Galla M,Schambach A,Gossler A,Förster R,Heuser M,Kotlyarov A,Kinoshita M,Gaestel M

更新日期：2014-08-14 00:00:00

abstract：:Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy. Though the molecular underpinnings of this cancer have been largely unexplored, recurrent chromosomal breakpoints affecting a noncoding region on chr19q13, which includes the chromosome 19 microRNA cluster (C19MC), have been re...

journal_title：PLoS genetics

authors： Setty BA,Jinesh GG,Arnold M,Pettersson F,Cheng CH,Cen L,Yoder SJ,Teer JK,Flores ER,Reed DR,Brohl AS

更新日期：2020-04-20 00:00:00

abstract：:The mitochondrial beta-oxidation system is one of the central metabolic pathways of energy metabolism in mammals. Enzyme defects in this pathway cause fatty acid oxidation disorders. To elucidate the role of 2,4-dienoyl-CoA reductase (DECR) as an auxiliary enzyme in the mitochondrial beta-oxidation of unsaturated fatt...

journal_title：PLoS genetics

authors： Miinalainen IJ,Schmitz W,Huotari A,Autio KJ,Soininen R,Ver Loren van Themaat E,Baes M,Herzig KH,Conzelmann E,Hiltunen JK

更新日期：2009-07-01 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Horizontal gene transfer (HGT) is a major force driving bacterial evolution. Because of their ability to cross inter-species barriers, bacterial plasmids are essential agents for HGT. This ability, however, poses specific requisites on plasmid physiology, in particular the need to overcome a multilevel selection proce...

journal_title：PLoS genetics

authors： Fernandez-Lopez R,Del Campo I,Revilla C,Cuevas A,de la Cruz F

更新日期：2014-02-27 00:00:00

abstract：:Maintaining levels of calcium in the cytosol is important for many cellular events, including cell migration, where localized regions of high calcium are required to regulate cytoskeletal dynamics, contractility, and adhesion. Studies show inositol-trisphosphate receptors (IP3R) and ryanodine receptors (RyR), which re...

journal_title：PLoS genetics

authors： Praitis V,Simske J,Kniss S,Mandt R,Imlay L,Feddersen C,Miller MB,Mushi J,Liszewski W,Weinstein R,Chakravorty A,Ha DG,Schacht Farrell A,Sullivan-Wilson A,Stock T

更新日期：2013-05-01 00:00:00

abstract：:To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P = 4.1 × 10(-11) observed for rs917727 w...

journal_title：PLoS genetics

authors： Medina-Gomez C,Kemp JP,Estrada K,Eriksson J,Liu J,Reppe S,Evans DM,Heppe DH,Vandenput L,Herrera L,Ring SM,Kruithof CJ,Timpson NJ,Zillikens MC,Olstad OK,Zheng HF,Richards JB,St Pourcain B,Hofman A,Jaddoe VW,Smith G

更新日期：2012-07-01 00:00:00

abstract：:Signaling pathways enable cells to sense and respond to their environment. Many cellular signaling strategies are conserved from fungi to humans, yet their activity and phenotypic consequences can vary extensively among individuals within a species. A systematic assessment of the impact of naturally occurring genetic ...

journal_title：PLoS genetics

authors： Treusch S,Albert FW,Bloom JS,Kotenko IE,Kruglyak L

更新日期：2015-01-08 00:00:00

abstract：:The PTEN-induced kinase 1 (PINK1) is a mitochondrial kinase, and pink1 mutations cause early onset Parkinson's disease (PD) in humans. Loss of pink1 in Drosophila leads to defects in mitochondrial function, and genetic data suggest that another PD-related gene product, Parkin, acts with pink1 to regulate the clearance...

journal_title：PLoS genetics

authors： Esposito G,Vos M,Vilain S,Swerts J,De Sousa Valadas J,Van Meensel S,Schaap O,Verstreken P

更新日期：2013-04-01 00:00:00

abstract：:Human FTO gene variants are associated with body mass index and type 2 diabetes. Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO expression or splicing are the cause of obesity or if regulatory elements within intron 1 influence upstream or downstream genes. We tested the idea th...

journal_title：PLoS genetics

authors： Church C,Lee S,Bagg EA,McTaggart JS,Deacon R,Gerken T,Lee A,Moir L,Mecinović J,Quwailid MM,Schofield CJ,Ashcroft FM,Cox RD

更新日期：2009-08-01 00:00:00

abstract：:Asymmetrical segregation of differentiated sister chromatids is thought to be important for cellular differentiation in higher eukaryotes. Similarly, in fission yeast, cellular differentiation involves the asymmetrical segregation of a chromosomal imprint. This imprint has been shown to consist of two ribonucleotides ...

journal_title：PLoS genetics

authors： Sayrac S,Vengrova S,Godfrey EL,Dalgaard JZ

更新日期：2011-03-01 00:00:00

abstract：:Epigenetic reprogramming is a critical event in the generation of induced pluripotent stem cells (iPSCs). Here, we determined the DNA methylation profiles of 22 human iPSC lines derived from five different cell types (human endometrium, placental artery endothelium, amnion, fetal lung fibroblast, and menstrual blood c...

journal_title：PLoS genetics

authors： Nishino K,Toyoda M,Yamazaki-Inoue M,Fukawatase Y,Chikazawa E,Sakaguchi H,Akutsu H,Umezawa A

更新日期：2011-05-01 00:00:00

abstract：:Differentiating cells interact with their extracellular environment over time. Chondrocytes embed themselves in a proteoglycan (PG)-rich matrix, then undergo a developmental transition, termed "maturation," when they express ihh to induce bone in the overlying tissue, the perichondrium. Here, we ask whether PGs regula...

journal_title：PLoS genetics

authors： Eames BF,Yan YL,Swartz ME,Levic DS,Knapik EW,Postlethwait JH,Kimmel CB

更新日期：2011-08-01 00:00:00

abstract：:Class-switch recombination (CSR), induced by activation-induced cytidine deaminase (AID), can be divided into two phases: DNA cleavage of the switch (S) regions and the joining of the cleaved ends of the different S regions. Here, we show that the DSIF complex (Spt4 and Spt5), a transcription elongation factor, is req...

journal_title：PLoS genetics

authors： Stanlie A,Begum NA,Akiyama H,Honjo T

更新日期：2012-01-01 00:00:00

abstract：:Despite strong vetting for disease activity, only 10% of candidate new molecular entities in early stage clinical trials are eventually approved. Analyzing historical pipeline data, Nelson et al. 2015 (Nat. Genet.) concluded pipeline drug targets with human genetic evidence of disease association are twice as likely t...

journal_title：PLoS genetics

authors： King EA,Davis JW,Degner JF

更新日期：2019-12-12 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00