Marine environmental DNA biomonitoring reveals seasonal patterns in biodiversity and identifies ecosystem responses to anomalous climatic events.

abstract：:Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...

journal_title：PLoS genetics

authors： Downey CM,Horton CR,Carlson BA,Parsons TE,Hatfield DL,Hallgrímsson B,Jirik FR

更新日期：2009-08-01 00:00:00

abstract：:The mechanisms involved in the recognition of microbial pathogens and activation of the immune system have been extensively studied. However, the mechanisms involved in the recovery phase of an infection are incompletely characterized at both the cellular and physiological levels. Here, we establish a Caenorhabditis e...

journal_title：PLoS genetics

authors： Head B,Aballay A

更新日期：2014-10-23 00:00:00

abstract：:Multicellular tubes consist of polarized cells wrapped around a central lumen and are essential structures underlying many developmental and physiological functions. In Drosophila compound eyes, each ommatidium forms a luminal matrix, the inter-rhabdomeral space, to shape and separate the key phototransduction organel...

journal_title：PLoS genetics

authors： Nie J,Mahato S,Zelhof AC

更新日期：2014-09-18 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：: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：: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：:Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, correspondin...

journal_title：PLoS genetics

authors： Besenbacher S,Sulem P,Helgason A,Helgason H,Kristjansson H,Jonasdottir A,Jonasdottir A,Magnusson OT,Thorsteinsdottir U,Masson G,Kong A,Gudbjartsson DF,Stefansson K

更新日期：2016-11-15 00:00:00

abstract：:The combination of large-scale population genomic analyses and trait-based mapping approaches has the potential to provide novel insights into the evolutionary history and genome organization of crop plants. Here, we describe the detailed genotypic and phenotypic analysis of a sunflower (Helianthus annuus L.) associat...

journal_title：PLoS genetics

authors： Mandel JR,Nambeesan S,Bowers JE,Marek LF,Ebert D,Rieseberg LH,Knapp SJ,Burke JM

更新日期：2013-03-01 00:00:00

abstract：:Rare individuals with inactivating mutations in the Huntington's disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (HdhneoQ20, HdhneoQ50, HdhneoQ1...

journal_title：PLoS genetics

authors： Murthy V,Tebaldi T,Yoshida T,Erdin S,Calzonetti T,Vijayvargia R,Tripathi T,Kerschbamer E,Seong IS,Quattrone A,Talkowski ME,Gusella JF,Georgopoulos K,MacDonald ME,Biagioli M

更新日期：2019-03-21 00:00:00

abstract：:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, ha...

journal_title：PLoS genetics

authors： Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

更新日期：2020-11-20 00:00:00

abstract：:Endoplasmic reticulum (ER) stress occurs when misfolded proteins accumulate in the ER. The cellular response to ER stress involves complex transcriptional and translational changes, important to the survival of the cell. ER stress is a primary cause and a modifier of many human diseases. A first step to understanding ...

journal_title：PLoS genetics

authors： Chow CY,Wang X,Riccardi D,Wolfner MF,Clark AG

更新日期：2015-02-04 00:00:00

abstract：:Bromodomain proteins are key regulators of gene expression. How the levels of these factors are regulated in specific environmental conditions is unknown. Previous work has established that expression of yeast Bromodomain factor 2 (BDF2) is limited by spliceosome-mediated decay (SMD). Here we show that BDF2 is subject...

journal_title：PLoS genetics

authors： Roy K,Chanfreau G

更新日期：2014-09-18 00:00:00

abstract：:Respiratory infectious diseases are the third cause of worldwide death. The nasopharynx is the portal of entry and the ecological niche of many microorganisms, of which some are pathogenic to humans, such as Neisseria meningitidis and Moraxella catarrhalis. These microbes possess several surface structures that intera...

journal_title：PLoS genetics

authors： Veyrier FJ,Biais N,Morales P,Belkacem N,Guilhen C,Ranjeva S,Sismeiro O,Péhau-Arnaudet G,Rocha EP,Werts C,Taha MK,Boneca IG

更新日期：2015-07-10 00:00:00

abstract：:Development of a functional musculoskeletal system requires coordinated generation of muscles, bones, and tendons. However, how axial tendon cells (tenocytes) are generated during embryo development is still poorly understood. Here, we show that axial tenocytes arise from the sclerotome in zebrafish. In contrast to mo...

journal_title：PLoS genetics

authors： Ma RC,Jacobs CT,Sharma P,Kocha KM,Huang P

更新日期：2018-11-02 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：: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：:The requirements for oocyte meiotic cytokinesis during polar body extrusion are not well understood. In particular, the relationship between the oocyte meiotic spindle and polar body contractile ring dynamics remains largely unknown. We have used live cell imaging and spindle assembly defective mutants lacking the fun...

journal_title：PLoS genetics

authors： Schlientz AJ,Bowerman B

更新日期：2020-10-07 00:00:00

abstract：:XRN2 is a conserved 5'→3' exoribonuclease that complexes with proteins that contain XRN2-binding domains (XTBDs). In Caenorhabditis elegans (C. elegans), the XTBD-protein PAXT-1 stabilizes XRN2 to retain its activity. XRN2 activity is also promoted by 3'(2'),5'-bisphosphate nucleotidase 1 (BPNT1) through hydrolysis of...

journal_title：PLoS genetics

authors： Miki TS,Carl SH,Stadler MB,Großhans H

更新日期：2016-09-15 00:00:00

abstract：:Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...

journal_title：PLoS genetics

authors： Mulderrig L,Garaycoechea JI

更新日期：2020-04-09 00:00:00

abstract：:Endoplasmic reticulum (ER) stress activates the Unfolded Protein Response, a compensatory signaling response that is mediated by the IRE-1, PERK/PEK-1, and ATF-6 pathways in metazoans. Genetic studies have implicated roles for UPR signaling in animal development and disease, but the function of the UPR under physiolog...

journal_title：PLoS genetics

authors： Richardson CE,Kinkel S,Kim DH

更新日期：2011-11-01 00:00:00

abstract：:In metazoan germlines, the piRNA pathway acts as a genomic immune system, employing small RNA-mediated silencing to defend host DNA from the harmful effects of transposable elements (TEs). Expression of genomic TEs is proposed to initiate self regulation by increasing the production of repressive piRNAs, thereby "adap...

journal_title：PLoS genetics

authors： Wang L,Barbash DA,Kelleher ES

更新日期：2020-06-11 00:00:00

abstract：:The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize r...

journal_title：PLoS genetics

authors： Chowdhury R,Bois PR,Feingold E,Sherman SL,Cheung VG

更新日期：2009-09-01 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：:Sensitivity to pain varies considerably between individuals and is known to be heritable. Increased sensitivity to experimental pain is a risk factor for developing chronic pain, a common and debilitating but poorly understood symptom. To understand mechanisms underlying pain sensitivity and to search for rare gene va...

journal_title：PLoS genetics

authors： Williams FM,Scollen S,Cao D,Memari Y,Hyde CL,Zhang B,Sidders B,Ziemek D,Shi Y,Harris J,Harrow I,Dougherty B,Malarstig A,McEwen R,Stephens JC,Patel K,Menni C,Shin SY,Hodgkiss D,Surdulescu G,He W,Jin X,McMahon S

更新日期：2012-01-01 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：: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：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 00:00:00

abstract：:The pentatricopeptide repeat (PPR) is a helical repeat motif found in an exceptionally large family of RNA-binding proteins that functions in mitochondrial and chloroplast gene expression. PPR proteins harbor between 2 and 30 repeats and typically bind single-stranded RNA in a sequence-specific fashion. However, the b...

journal_title：PLoS genetics

authors： Barkan A,Rojas M,Fujii S,Yap A,Chong YS,Bond CS,Small I

更新日期：2012-01-01 00:00:00

abstract：:DNA- and RNA-processing pathways are integrated and interconnected in the eukaryotic nucleus to allow efficient gene expression and to maintain genomic stability. The recruitment of DNA Topoisomerase I (Topo I), an enzyme controlling DNA supercoiling and acting as a specific kinase for the SR-protein family of splicin...

journal_title：PLoS genetics

authors： Juge F,Fernando C,Fic W,Tazi J

更新日期：2010-09-16 00:00:00

abstract：:Genetic background exerts a strong modulatory effect on the toxicity of aggregation-prone proteins in conformational diseases. In addition to influencing the misfolding and aggregation behavior of the mutant proteins, polymorphisms in putative modifier genes may affect the molecular processes leading to the disease ph...

journal_title：PLoS genetics

authors： Gidalevitz T,Krupinski T,Garcia S,Morimoto RI

更新日期：2009-03-01 00:00:00