High-resolution mapping of h1 linker histone variants in embryonic stem cells.

abstract：:Numerous instances of presence/absence variations for introns have been documented in eukaryotes, and some cases of recurrent loss of the same intron have been suggested. However, there has been no comprehensive or phylogenetically deep analysis of recurrent intron loss. Of 883 cases of intron presence/absence variati...

journal_title：PLoS genetics

authors： Wang H,Devos KM,Bennetzen JL

更新日期：2014-12-04 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：: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：:Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to...

journal_title：PLoS genetics

authors： Spilker C,Nullmeier S,Grochowska KM,Schumacher A,Butnaru I,Macharadze T,Gomes GM,Yuanxiang P,Bayraktar G,Rodenstein C,Geiseler C,Kolodziej A,Lopez-Rojas J,Montag D,Angenstein F,Bär J,D'Hanis W,Roskoden T,Mikhaylova M

更新日期：2016-03-15 00:00:00

abstract：:Polycomb proteins are epigenetic regulators that localize to developmental loci in the early embryo where they mediate lineage-specific gene repression. In Drosophila, these repressors are recruited to sequence elements by DNA binding proteins associated with Polycomb repressive complex 2 (PRC2). However, the sequence...

journal_title：PLoS genetics

authors： Mendenhall EM,Koche RP,Truong T,Zhou VW,Issac B,Chi AS,Ku M,Bernstein BE

更新日期：2010-12-09 00:00:00

abstract：:The ability of specific neurons to regenerate their axons after injury is governed by cell-intrinsic regeneration pathways. However, the signaling pathways that orchestrate axon regeneration are not well understood. In Caenorhabditis elegans, initiation of axon regeneration is positively regulated by SVH-2 Met-like gr...

journal_title：PLoS genetics

authors： Hisamoto N,Nagamori Y,Shimizu T,Pastuhov SI,Matsumoto K

更新日期：2016-12-16 00:00:00

abstract：:HSPB7 is a member of the small heat-shock protein (HSPB) family and is expressed in the cardiomyocytes from cardiogenesis onwards. A dramatic increase in HSPB7 is detected in the heart and blood plasma immediately after myocardial infarction. Additionally, several single-nucleotide polymorphisms of HSPB7 have been ide...

journal_title：PLoS genetics

authors： Liao WC,Juo LY,Shih YL,Chen YH,Yan YT

更新日期：2017-08-21 00:00:00

abstract：:In oocytes, where centrosomes are absent, the chromosomes direct the assembly of a bipolar spindle. Interactions between chromosomes and microtubules are essential for both spindle formation and chromosome segregation, but the nature and function of these interactions is not clear. We have examined oocytes lacking two...

journal_title：PLoS genetics

authors： Radford SJ,Hoang TL,Głuszek AA,Ohkura H,McKim KS

更新日期：2015-10-16 00:00:00

abstract：:UV-induced DNA damage causes repression of RNA synthesis. Following the removal of DNA lesions, transcription recovery operates through a process that is not understood yet. Here we show that knocking-out of the histone methyltransferase DOT1L in mouse embryonic fibroblasts (MEF(DOT1L)) leads to a UV hypersensitivity ...

journal_title：PLoS genetics

authors： Oksenych V,Zhovmer A,Ziani S,Mari PO,Eberova J,Nardo T,Stefanini M,Giglia-Mari G,Egly JM,Coin F

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：:Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority of loci are unknown. Recent studies have suggested that many causal GWAS variants influence disease through altered transcriptional regulation in disease-relev...

journal_title：PLoS genetics

authors： Reschen ME,Gaulton KJ,Lin D,Soilleux EJ,Morris AJ,Smyth SS,O'Callaghan CA

更新日期：2015-04-02 00:00:00

abstract：:The mechanism underlying immune system recognition of different types of pathogens has been extensively studied over the past few decades; however, the mechanism by which healthy self-tissue evades an attack by its own immune system is less well-understood. Here, we established an autoimmune model of melanotic mass fo...

journal_title：PLoS genetics

authors： Kim MJ,Choe KM

更新日期：2014-10-16 00:00:00

abstract：:The High Pathogenicity Island of Yersinia pseudotuberculosis IP32637 was previously shown to be horizontally transferable as part of a large chromosomal segment. We demonstrate here that at low temperature other chromosomal loci, as well as a non-mobilizable plasmid (pUC4K), are also transferable. This transfer, desig...

journal_title：PLoS genetics

authors： Lesic B,Zouine M,Ducos-Galand M,Huon C,Rosso ML,Prévost MC,Mazel D,Carniel E

更新日期：2012-01-01 00:00:00

abstract：:Neisseria meningitidis is the primary causative agent of bacterial meningitis. The genome is rich in repetitive DNA and almost 2% is occupied by a diminutive transposon called the Correia element. Here we report a bioinformatic analysis defining eight subtypes of the element with four distinct types of ends. Transcrip...

journal_title：PLoS genetics

authors： Siddique A,Buisine N,Chalmers R

更新日期：2011-01-20 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：:Microtubule-microfilament interactions are important for cytokinesis and subcellular localization of proteins and mRNAs. In the early zebrafish embryo, astral microtubule-microfilament interactions also facilitate a stereotypic segregation pattern of germ plasm ribonucleoparticles (GP RNPs), which is critical for thei...

journal_title：PLoS genetics

authors： Nair S,Marlow F,Abrams E,Kapp L,Mullins MC,Pelegri F

更新日期：2013-04-01 00:00:00

abstract：:Cereal endosperm represents 60% of the calories consumed by human beings worldwide. In addition, cereals also serve as the primary feedstock for livestock. However, the regulatory mechanism of cereal endosperm and seed development is largely unknown. Polycomb complex has been shown to play a key role in the regulation...

journal_title：PLoS genetics

authors： Nallamilli BR,Zhang J,Mujahid H,Malone BM,Bridges SM,Peng Z

更新日期：2013-01-01 00:00:00

abstract：:The neural crest (NC) is a vertebrate-specific cell population that exhibits remarkable multipotency. Although derived from the neural plate border (NPB) ectoderm, cranial NC (CNC) cells contribute not only to the peripheral nervous system but also to the ectomesenchymal precursors of the head skeleton. To date, the d...

journal_title：PLoS genetics

authors： Cox SG,Kim H,Garnett AT,Medeiros DM,An W,Crump JG

更新日期：2012-09-01 00:00:00

abstract：:Escherichia coli translation initiation factor 2 (IF2) performs the unexpected function of promoting transition from recombination to replication during bacteriophage Mu transposition in vitro, leading to initiation by replication restart proteins. This function has suggested a role of IF2 in engaging cellular restart...

journal_title：PLoS genetics

authors： Madison KE,Abdelmeguid MR,Jones-Foster EN,Nakai H

更新日期：2012-01-01 00:00:00

abstract：:Arthrobacter sp. strains are among the most frequently isolated, indigenous, aerobic bacterial genera found in soils. Member of the genus are metabolically and ecologically diverse and have the ability to survive in environmentally harsh conditions for extended periods of time. The genome of Arthrobacter aurescens str...

journal_title：PLoS genetics

authors： Mongodin EF,Shapir N,Daugherty SC,DeBoy RT,Emerson JB,Shvartzbeyn A,Radune D,Vamathevan J,Riggs F,Grinberg V,Khouri H,Wackett LP,Nelson KE,Sadowsky MJ

更新日期：2006-12-01 00:00:00

abstract：:In flowering plants, gene expression in the haploid male gametophyte (pollen) is essential for sperm delivery and double fertilization. Pollen also undergoes dynamic epigenetic regulation of expression from transposable elements (TEs), but how this process interacts with gene expression is not clearly understood. To e...

journal_title：PLoS genetics

authors： Warman C,Panda K,Vejlupkova Z,Hokin S,Unger-Wallace E,Cole RA,Chettoor AM,Jiang D,Vollbrecht E,Evans MMS,Slotkin RK,Fowler JE

更新日期：2020-04-01 00:00:00

abstract：:Heterochromatic homology ensures the segregation of achiasmate chromosomes during meiosis I in Drosophila melanogaster females, perhaps as a consequence of the heterochromatic threads that connect achiasmate homologs during prometaphase I. Here, we ask how these threads, and other possible heterochromatic entanglement...

journal_title：PLoS genetics

authors： Hughes SE,Hawley RS

更新日期：2014-10-23 00:00:00

abstract：:Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-translational modificati...

journal_title：PLoS genetics

authors： Reimand J,Wagih O,Bader GD

更新日期：2015-01-22 00:00:00

abstract：:Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted out...

journal_title：PLoS genetics

authors： Thouvenot P,Ben Yamin B,Fourrière L,Lescure A,Boudier T,Del Nery E,Chauchereau A,Goldgar DE,Houdayer C,Stoppa-Lyonnet D,Nicolas A,Millot GA

更新日期：2016-06-06 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：:Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...

journal_title：PLoS genetics

authors： Chance RK,Bashaw GJ

更新日期：2015-09-03 00:00:00

abstract：:Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two spec...

journal_title：PLoS genetics

authors： Muñoz JF,Gauthier GM,Desjardins CA,Gallo JE,Holder J,Sullivan TD,Marty AJ,Carmen JC,Chen Z,Ding L,Gujja S,Magrini V,Misas E,Mitreva M,Priest M,Saif S,Whiston EA,Young S,Zeng Q,Goldman WE,Mardis ER,Taylor JW,Mc

更新日期：2015-10-06 00:00:00

abstract：:Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight into the dynamics of genome evolution, the genetic basis of differences between species, and the functions of individual genes. However, previous scans have been limited in power and accuracy owing to small numbers of available gen...

journal_title：PLoS genetics

authors： Kosiol C,Vinar T,da Fonseca RR,Hubisz MJ,Bustamante CD,Nielsen R,Siepel A

更新日期：2008-08-01 00:00:00

abstract：:The apple is the most common and culturally important fruit crop of temperate areas. The elucidation of its origin and domestication history is therefore of great interest. The wild Central Asian species Malus sieversii has previously been identified as the main contributor to the genome of the cultivated apple (Malus...

journal_title：PLoS genetics

authors： Cornille A,Gladieux P,Smulders MJ,Roldán-Ruiz I,Laurens F,Le Cam B,Nersesyan A,Clavel J,Olonova M,Feugey L,Gabrielyan I,Zhang XG,Tenaillon MI,Giraud T

更新日期：2012-01-01 00:00:00

abstract：:UTX (KDM6A) and UTY are homologous X and Y chromosome members of the Histone H3 Lysine 27 (H3K27) demethylase gene family. UTX can demethylate H3K27; however, in vitro assays suggest that human UTY has lost enzymatic activity due to sequence divergence. We produced mouse mutations in both Utx and Uty. Homozygous Utx m...

journal_title：PLoS genetics

authors： Shpargel KB,Sengoku T,Yokoyama S,Magnuson T

更新日期：2012-09-01 00:00:00