Prp4 Kinase Grants the License to Splice: Control of Weak Splice Sites during Spliceosome Activation.

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：: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：: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：:The Yorkie/Yap transcriptional coactivator is a well-known regulator of cellular proliferation in both invertebrates and mammals. As a coactivator, Yorkie (Yki) lacks a DNA binding domain and must partner with sequence-specific DNA binding proteins in the nucleus to regulate gene expression; in Drosophila, the develop...

journal_title：PLoS genetics

authors： Slattery M,Voutev R,Ma L,Nègre N,White KP,Mann RS

更新日期：2013-01-01 00:00:00

abstract：:We report here the ~670 Mb genome assembly of the Asian seabass (Lates calcarifer), a tropical marine teleost. We used long-read sequencing augmented by transcriptomics, optical and genetic mapping along with shared synteny from closely related fish species to derive a chromosome-level assembly with a contig N50 size ...

journal_title：PLoS genetics

authors： Vij S,Kuhl H,Kuznetsova IS,Komissarov A,Yurchenko AA,Van Heusden P,Singh S,Thevasagayam NM,Prakki SR,Purushothaman K,Saju JM,Jiang J,Mbandi SK,Jonas M,Hin Yan Tong A,Mwangi S,Lau D,Ngoh SY,Liew WC,Shen X,Hon LS,

更新日期：2016-04-15 00:00:00

abstract：:The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systemat...

journal_title：PLoS genetics

authors： Tuch BB,Mitrovich QM,Homann OR,Hernday AD,Monighetti CK,De La Vega FM,Johnson AD

更新日期：2010-08-19 00:00:00

abstract：:Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...

journal_title：PLoS genetics

authors： Giguère N,Delignat-Lavaud B,Herborg F,Voisin A,Li Y,Jacquemet V,Anand-Srivastava M,Gether U,Giros B,Trudeau LÉ

更新日期：2019-08-26 00:00:00

abstract：:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...

journal_title：PLoS genetics

authors： Kiando SR,Tucker NR,Castro-Vega LJ,Katz A,D'Escamard V,Tréard C,Fraher D,Albuisson J,Kadian-Dodov D,Ye Z,Austin E,Yang ML,Hunker K,Barlassina C,Cusi D,Galan P,Empana JP,Jouven X,Gimenez-Roqueplo AP,Bruneval P,Hyun

更新日期：2016-10-28 00:00:00

abstract：:Insulator or enhancer-blocking elements are proposed to play an important role in the regulation of transcription by preventing inappropriate enhancer/promoter interaction. The zinc-finger protein CTCF is well studied in vertebrates as an enhancer blocking factor, but Drosophila CTCF has only been characterised recent...

journal_title：PLoS genetics

authors： Holohan EE,Kwong C,Adryan B,Bartkuhn M,Herold M,Renkawitz R,Russell S,White R

更新日期：2007-07-01 00:00:00

abstract：:Neuronal cargos are differentially targeted to either axons or dendrites, and this polarized cargo targeting critically depends on the interaction between microtubules and molecular motors. From a forward mutagenesis screen, we identified a gain-of-function mutation in the C. elegans α-tubulin gene mec-12 that trigger...

journal_title：PLoS genetics

authors： Hsu JM,Chen CH,Chen YC,McDonald KL,Gurling M,Lee A,Garriga G,Pan CL

更新日期：2014-11-13 00:00:00

abstract：:Adult skeletal muscles are maintained during homeostasis and regenerated upon injury by muscle stem cells (MuSCs). A heterogeneity in self-renewal, differentiation and regeneration properties has been reported for MuSCs based on their anatomical location. Although MuSCs derived from extraocular muscles (EOM) have a hi...

journal_title：PLoS genetics

authors： Evano B,Gill D,Hernando-Herraez I,Comai G,Stubbs TM,Commere PH,Reik W,Tajbakhsh S

更新日期：2020-10-30 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：: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：:Spatial arrangement of neurite branching is instructed by both attractive and repulsive cues. Here we show that in C. elegans, the Wnt family of secreted glycoproteins specify neurite branching sites in the PLM mechanosensory neurons. Wnts function through MIG-1/Frizzled and the planar cell polarity protein (PCP) VANG...

journal_title：PLoS genetics

authors： Chen CH,He CW,Liao CP,Pan CL

更新日期：2017-04-06 00:00:00

abstract：:From Darwin's study of the Galapagos and Wallace's study of Indonesia, islands have played an important role in evolutionary investigations, and radiations within archipelagos are readily interpreted as supporting the conventional view of allopatric speciation. Even during the ongoing paradigm shift towards other mode...

journal_title：PLoS genetics

authors： Thorpe RS,Surget-Groba Y,Johansson H

更新日期：2010-04-29 00:00:00

abstract：:The oligodendrocyte density is greater and myelin sheaths are thicker in the adult male mouse brain when compared with females. Here, we show that these sex differences emerge during the first 10 postnatal days, precisely at a stage when a late wave of oligodendrocyte progenitor cells arises and starts differentiating...

journal_title：PLoS genetics

authors： Abi Ghanem C,Degerny C,Hussain R,Liere P,Pianos A,Tourpin S,Habert R,Macklin WB,Schumacher M,Ghoumari AM

更新日期：2017-11-06 00:00:00

abstract：:Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...

journal_title：PLoS genetics

authors： Bhatnagar SR,Yang Y,Lu T,Schurr E,Loredo-Osti JC,Forest M,Oualkacha K,Greenwood CMT

更新日期：2020-05-04 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：:We introduce a flexible and robust simulation-based framework to infer demographic parameters from the site frequency spectrum (SFS) computed on large genomic datasets. We show that our composite-likelihood approach allows one to study evolutionary models of arbitrary complexity, which cannot be tackled by other curre...

journal_title：PLoS genetics

authors： Excoffier L,Dupanloup I,Huerta-Sánchez E,Sousa VC,Foll M

更新日期：2013-10-01 00:00:00

abstract：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 00:00:00

abstract：:Faithful replication and repair of DNA lesions ensure genome maintenance. During replication in eukaryotic cells, DNA is unwound by the CMG helicase complex, which is composed of three major components: the Cdc45 protein, Mcm2-7, and the GINS complex. The CMG in complex with DNA polymerase epsilon (CMG-E) participates...

journal_title：PLoS genetics

authors： Jedrychowska M,Denkiewicz-Kruk M,Alabrudzinska M,Skoneczna A,Jonczyk P,Dmowski M,Fijalkowska IJ

更新日期：2019-12-09 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:Many microbes exhibit quorum sensing (QS) to cooperate, share and perform a social task in unison. Recent studies have shown the emergence of reversible phenotypic heterogeneity in the QS-responding pathogenic microbial population under laboratory conditions as a possible bet-hedging survival strategy. However, very l...

journal_title：PLoS genetics

authors： Samal B,Chatterjee S

更新日期：2019-09-17 00:00:00

abstract：:Insertions and deletions (indels) are a major source of genetic variation within species and may result in functional changes to coding or regulatory sequences. In this study we report that an indel polymorphism in the 3' untranslated region (UTR) of the metallothionein gene MtnA is associated with gene expression var...

journal_title：PLoS genetics

authors： Catalán A,Glaser-Schmitt A,Argyridou E,Duchen P,Parsch J

更新日期：2016-04-27 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：:Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region gen...

journal_title：PLoS genetics

authors： Taylor KE,Remmers EF,Lee AT,Ortmann WA,Plenge RM,Tian C,Chung SA,Nititham J,Hom G,Kao AH,Demirci FY,Kamboh MI,Petri M,Manzi S,Kastner DL,Seldin MF,Gregersen PK,Behrens TW,Criswell LA

更新日期：2008-05-30 00:00:00

abstract：:SKN-1, the Caenorhabditis elegans Nrf1/2/3 ortholog, promotes both oxidative stress resistance and longevity. SKN-1 responds to oxidative stress by upregulating genes that detoxify and defend against free radicals and other reactive molecules, a SKN-1/Nrf function that is both well-known and conserved. Here we show th...

journal_title：PLoS genetics

authors： Li X,Matilainen O,Jin C,Glover-Cutter KM,Holmberg CI,Blackwell TK

更新日期：2011-06-01 00:00:00

abstract：:PCNA ubiquitylation on lysine 164 is required for DNA damage tolerance. In many organisms PCNA is also ubiquitylated in unchallenged S phase but the significance of this has not been established. Using Schizosaccharomyces pombe, we demonstrate that lysine 164 ubiquitylation of PCNA contributes to efficient DNA replica...

journal_title：PLoS genetics

authors： Daigaku Y,Etheridge TJ,Nakazawa Y,Nakayama M,Watson AT,Miyabe I,Ogi T,Osborne MA,Carr AM

更新日期：2017-05-08 00:00:00

abstract：:Genetic and epigenetic mechanisms may interact and together affect biological processes and disease development. However, most previous studies have investigated genetic and epigenetic mechanisms independently, and studies examining their interactions throughout the human genome are lacking. To identify genetic loci t...

journal_title：PLoS genetics

authors： Olsson AH,Volkov P,Bacos K,Dayeh T,Hall E,Nilsson EA,Ladenvall C,Rönn T,Ling C

更新日期：2014-11-06 00:00:00

abstract：:Phenotypic variation within an isogenic bacterial population is thought to ensure the survival of a subset of cells in adverse conditions. The opportunistic pathogen Pseudomonas aeruginosa variably expresses several phenotypes, including antibiotic resistance, biofilm formation, and the production of CupA fimbriae. He...

journal_title：PLoS genetics

authors： Turner KH,Vallet-Gely I,Dove SL

更新日期：2009-12-01 00:00:00