Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster.

abstract：:H1 linker histones facilitate higher-order chromatin folding and are essential for mammalian development. To achieve high-resolution mapping of H1 variants H1d and H1c in embryonic stem cells (ESCs), we have established a knock-in system and shown that the N-terminally tagged H1 proteins are functionally interchangeab...

journal_title：PLoS genetics

authors： Cao K,Lailler N,Zhang Y,Kumar A,Uppal K,Liu Z,Lee EK,Wu H,Medrzycki M,Pan C,Ho PY,Cooper GP Jr,Dong X,Bock C,Bouhassira EE,Fan Y

更新日期：2013-01-01 00:00:00

abstract：:Small heat shock proteins (sHsps) are a conserved class of ATP-independent chaperones that bind to aggregation-prone polypeptides at stress conditions. sHsps encage these polypeptides in assemblies, shielding them from further aggregation. To facilitate their subsequent solubilization and refolding by Hsp70 (DnaK) and...

journal_title：PLoS genetics

authors： Obuchowski I,Piróg A,Stolarska M,Tomiczek B,Liberek K

更新日期：2019-10-25 00:00:00

abstract：:Kidney function depends on the nephron, which comprises a blood filter, a tubule that is subdivided into functionally distinct segments, and a collecting duct. How these regions arise during development is poorly understood. The zebrafish pronephros consists of two linear nephrons that develop from the intermediate me...

journal_title：PLoS genetics

authors： Wingert RA,Selleck R,Yu J,Song HD,Chen Z,Song A,Zhou Y,Thisse B,Thisse C,McMahon AP,Davidson AJ

更新日期：2007-10-01 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：:The DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 00:00:00

abstract：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 00:00:00

abstract：:Proteins associated with familial neurodegenerative disease often aggregate in patients' neurons. Several such proteins, e.g. TDP-43, aggregate and are toxic when expressed in yeast. Deletion of the ATXN2 ortholog, PBP1, reduces yeast TDP-43 toxicity, which led to identification of ATXN2 as an amyotrophic lateral scle...

journal_title：PLoS genetics

authors： Park S,Park SK,Watanabe N,Hashimoto T,Iwatsubo T,Shelkovnikova TA,Liebman SW

更新日期：2019-08-07 00:00:00

abstract：:Increases in fruit weight of cultivated vegetables and fruits accompanied the domestication of these crops. Here we report on the positional cloning of a quantitative trait locus (QTL) controlling fruit weight in tomato. The derived allele of Cell Size Regulator (CSR-D) increases fruit weight predominantly through enl...

journal_title：PLoS genetics

authors： Mu Q,Huang Z,Chakrabarti M,Illa-Berenguer E,Liu X,Wang Y,Ramos A,van der Knaap E

更新日期：2017-08-17 00:00:00

abstract：:The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similari...

journal_title：PLoS genetics

authors： Morgan NV,Morris MR,Cangul H,Gleeson D,Straatman-Iwanowska A,Davies N,Keenan S,Pasha S,Rahman F,Gentle D,Vreeswijk MP,Devilee P,Knowles MA,Ceylaner S,Trembath RC,Dalence C,Kismet E,Köseoğlu V,Rossbach HC,Gissen P,

更新日期：2010-02-05 00:00:00

abstract：:Most genetic variants associated with disease occur within regulatory regions of the genome, underscoring the importance of defining the mechanisms underlying differences in regulation of gene expression between individuals. We discovered a pair of co-regulated, divergently oriented transcripts, AQY2 and ncFRE6, that ...

journal_title：PLoS genetics

authors： Read T,Richmond PA,Dowell RD

更新日期：2016-01-11 00:00:00

abstract：:Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV. Here, we characterize what are likely to be the youngest TRIM genes in the human genome....

journal_title：PLoS genetics

authors： Han K,Lou DI,Sawyer SL

更新日期：2011-12-01 00:00:00

abstract：:In non-motile fungi, sexual reproduction relies on strong morphogenetic changes in response to pheromone signaling. We report here on a systematic screen for morphological abnormalities of the mating process in fission yeast Schizosaccharomyces pombe. We derived a homothallic (self-fertile) collection of viable deleti...

journal_title：PLoS genetics

authors： Dudin O,Merlini L,Bendezú FO,Groux R,Vincenzetti V,Martin SG

更新日期：2017-04-14 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

abstract：:Global climate change, increasingly erratic weather and a burgeoning global population are significant threats to the sustainability of future crop production. There is an urgent need for the development of robust measures that enable crops to withstand the uncertainty of climate change whilst still producing maximum ...

journal_title：PLoS genetics

authors： Williams B,Njaci I,Moghaddam L,Long H,Dickman MB,Zhang X,Mundree S

更新日期：2015-12-03 00:00:00

abstract：:The lineage factor Foxp3 is essential for the development and maintenance of regulatory T cells, but little is known about the mechanisms involved. Here, we demonstrate that an N-terminal proline-rich interaction region is crucial for Foxp3's function. Subdomains within this key region link Foxp3 to several independen...

journal_title：PLoS genetics

authors： Xie X,Stubbington MJ,Nissen JK,Andersen KG,Hebenstreit D,Teichmann SA,Betz AG

更新日期：2015-06-24 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006425.]. ...

journal_title：PLoS genetics

authors： Mitra I,Tsang K,Ladd-Acosta C,Croen LA,Aldinger KA,Hendren RL,Traglia M,Lavillaureix A,Zaitlen N,Oldham MC,Levitt P,Nelson S,Amaral DG,Hertz-Picciotto I,Fallin MD,Weiss LA

更新日期：2017-06-07 00:00:00

abstract：:AMP-activated protein kinase (AMPK) is an evolutionarily conserved master regulator of metabolism and a therapeutic target in type 2 diabetes. As an energy sensor, AMPK activity is responsive to both metabolic inputs, for instance the ratio of AMP to ATP, and numerous hormonal cues. As in mammals, each of two genes, a...

journal_title：PLoS genetics

authors： Cunningham KA,Bouagnon AD,Barros AG,Lin L,Malard L,Romano-Silva MA,Ashrafi K

更新日期：2014-06-12 00:00:00

abstract：:Hydrolysis of ATP by partition ATPases, although considered a key step in the segregation mechanism that assures stable inheritance of plasmids, is intrinsically very weak. The cognate centromere-binding protein (CBP), together with DNA, stimulates the ATPase to hydrolyse ATP and to undertake the relocation that incit...

journal_title：PLoS genetics

authors： Ah-Seng Y,Rech J,Lane D,Bouet JY

更新日期：2013-01-01 00:00:00

abstract：:Practical application of genomic-based risk stratification to clinical diagnosis is appealing yet performance varies widely depending on the disease and genomic risk score (GRS) method. Celiac disease (CD), a common immune-mediated illness, is strongly genetically determined and requires specific HLA haplotypes. HLA t...

journal_title：PLoS genetics

authors： Abraham G,Tye-Din JA,Bhalala OG,Kowalczyk A,Zobel J,Inouye M

更新日期：2014-02-13 00:00:00

abstract：:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make...

journal_title：PLoS genetics

authors： Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier C

更新日期：2012-01-01 00:00:00

abstract：:Systems biology approaches that are based on the genetics of gene expression have been fruitful in identifying genetic regulatory loci related to complex traits. We use microarray and genetic marker data from an F2 mouse intercross to examine the large-scale organization of the gene co-expression network in liver, and...

journal_title：PLoS genetics

authors： Ghazalpour A,Doss S,Zhang B,Wang S,Plaisier C,Castellanos R,Brozell A,Schadt EE,Drake TA,Lusis AJ,Horvath S

更新日期：2006-08-18 00:00:00

abstract：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:The 2,2,7-trimethylguanosine (TMG) cap is one of the first identified modifications on eukaryotic RNAs. TMG, synthesized by the conserved Tgs1 enzyme, is abundantly present on snRNAs essential for pre-mRNA splicing. Results from ex vivo experiments in vertebrate cells suggested that TMG ensures nuclear localization of...

journal_title：PLoS genetics

authors： Cheng L,Zhang Y,Zhang Y,Chen T,Xu YZ,Rong YS

更新日期：2020-10-21 00:00:00

abstract：:Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy. Broad ranges of repeat instability arise between individuals with expanded repeats, suggesting the existence of ...

journal_title：PLoS genetics

authors： Tomé S,Manley K,Simard JP,Clark GW,Slean MM,Swami M,Shelbourne PF,Tillier ER,Monckton DG,Messer A,Pearson CE

更新日期：2013-01-01 00:00:00

abstract：:Determining how facultative anaerobic organisms sense and direct cellular responses to electron acceptor availability has been a subject of intense study. However, even in the model organism Escherichia coli, established mechanisms only explain a small fraction of the hundreds of genes that are regulated during electr...

journal_title：PLoS genetics

authors： Federowicz S,Kim D,Ebrahim A,Lerman J,Nagarajan H,Cho BK,Zengler K,Palsson B

更新日期：2014-04-03 00:00:00

abstract：:Nutrient stresses trigger a variety of developmental switches in the budding yeast Saccharomyces cerevisiae. One of the least understood of such responses is the development of complex colony morphology, characterized by intricate, organized, and strain-specific patterns of colony growth and architecture. The genetic ...

journal_title：PLoS genetics

authors： Granek JA,Magwene PM

更新日期：2010-01-22 00:00:00

abstract：:Polycomb (PcG) regulation has been thought to produce stable long-term gene silencing. Genomic analyses in Drosophila and mammals, however, have shown that it targets many genes, which can switch state during development. Genetic evidence indicates that critical for the active state of PcG target genes are the histone...

journal_title：PLoS genetics

authors： Schwartz YB,Kahn TG,Stenberg P,Ohno K,Bourgon R,Pirrotta V

更新日期：2010-01-01 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 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：:Many diseases are differentially distributed among human populations. Differential selection on genetic variants in ancestral environments that coincidentally predispose to disease can be an underlying cause of these unequal prevalence patterns. Selected genes may be pleiotropic, affecting multiple phenotypes and resu...

journal_title：PLoS genetics

authors： Russell SB,Smith JC,Huang M,Trupin JS,Williams SM

更新日期：2015-11-05 00:00:00