Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

abstract：:Nervous systems have the ability to select appropriate actions and action sequences in response to sensory cues. The circuit mechanisms by which nervous systems achieve choice, stability and transitions between behaviors are still incompletely understood. To identify neurons and brain areas involved in controlling the...

journal_title：PLoS genetics

authors： Masson JB,Laurent F,Cardona A,Barré C,Skatchkovsky N,Zlatic M,Jovanic T

更新日期：2020-02-14 00:00:00

abstract：:Cellular adaptation to stress is essential to ensure organismal survival. NRF2/NFE2L2 is a key determinant of xenobiotic stress responses, and loss of negative regulation by the KEAP1-CUL3 proteasome system is implicated in several chemo- and radiation-resistant cancers. Advantageously using C. elegans alongside human...

journal_title：PLoS genetics

authors： Lo JY,Spatola BN,Curran SP

更新日期：2017-04-28 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：:Recent studies have demonstrated that the DNA methylome changes with age. This epigenetic drift may have deep implications for cellular differentiation and disease development. However, it remains unclear how much of this drift is functional or caused by underlying changes in cell subtype composition. Moreover, no stu...

journal_title：PLoS genetics

authors： Yuan T,Jiao Y,de Jong S,Ophoff RA,Beck S,Teschendorff AE

更新日期：2015-02-18 00:00:00

abstract：:Histone posttranslational modifications (HPTMs) are involved in chromatin-based regulation of fungal secondary metabolite biosynthesis (SMB) in which the corresponding genes-usually physically linked in co-regulated clusters-are silenced under optimal physiological conditions (nutrient-rich) but are activated when nut...

journal_title：PLoS genetics

authors： Gacek-Matthews A,Berger H,Sasaki T,Wittstein K,Gruber C,Lewis ZA,Strauss J

更新日期：2016-08-22 00:00:00

abstract：:Genome reduction has been observed in many bacterial lineages that have adapted to specialized environments. The extreme genome degradation seen for obligate pathogens and symbionts appears to be dominated by genetic drift. In contrast, for free-living organisms with reduced genomes, the dominant force is proposed to ...

journal_title：PLoS genetics

authors： Lee MC,Marx CJ

更新日期：2012-01-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 00:00:00

abstract：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:During development of the cerebral cortex, neural stem cells (NSCs) divide symmetrically to proliferate and asymmetrically to generate neurons. Although faithful segregation of mitotic chromosomes is critical for NSC divisions, its fundamental mechanism remains unclear. A class of evolutionarily conserved protein comp...

journal_title：PLoS genetics

authors： Nishide K,Hirano T

更新日期：2014-12-04 00:00:00

abstract：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 00:00:00

abstract：:Insecticide resistance in malaria vectors threatens to reverse recent gains in malaria control. Deciphering patterns of gene flow and resistance evolution in malaria vectors is crucial to improving control strategies and preventing malaria resurgence. A genome-wide survey of Anopheles funestus genetic diversity Africa...

journal_title：PLoS genetics

authors： Weedall GD,Riveron JM,Hearn J,Irving H,Kamdem C,Fouet C,White BJ,Wondji CS

更新日期：2020-06-04 00:00:00

abstract：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 00:00:00

abstract：:Hexavalent chromium [Cr(VI)] damages DNA and causes cancer, but it is unclear which DNA damage responses (DDRs) most critically protect cells from chromate toxicity. Here, genome-wide quantitative functional profiling, DDR measurements and genetic interaction assays in Schizosaccharomyces pombe reveal a chromate toxic...

journal_title：PLoS genetics

authors： Ganguly A,Guo L,Sun L,Suo F,Du LL,Russell P

更新日期：2018-08-27 00:00:00

abstract：:The length of cilia is controlled by a poorly understood mechanism that involves members of the conserved RCK kinase group, and among them, the LF4/MOK kinases. The multiciliated protist model, Tetrahymena, carries two types of cilia (oral and locomotory) and the length of the locomotory cilia is dependent on their po...

journal_title：PLoS genetics

authors： Jiang YY,Maier W,Baumeister R,Minevich G,Joachimiak E,Wloga D,Ruan Z,Kannan N,Bocarro S,Bahraini A,Vasudevan KK,Lechtreck K,Orias E,Gaertig J

更新日期：2019-07-24 00:00:00

abstract：:Both anatomically modern humans and the gastric pathogen Helicobacter pylori originated in Africa, and both species have been associated for at least 100,000 years. Seven geographically distinct H. pylori populations exist, three of which are indigenous to Africa: hpAfrica1, hpAfrica2, and hpNEAfrica. The oldest and m...

journal_title：PLoS genetics

authors： Nell S,Eibach D,Montano V,Maady A,Nkwescheu A,Siri J,Elamin WF,Falush D,Linz B,Achtman M,Moodley Y,Suerbaum S

更新日期：2013-01-01 00:00:00

abstract：:Recently, Wu and colleagues [1] proposed two novel statistics for genome-wide interaction analysis using case/control or case-only data. In computer simulations, their proposed case/control statistic outperformed competing approaches, including the fast-epistasis option in PLINK and logistic regression analysis under ...

journal_title：PLoS genetics

authors： Ueki M,Cordell HJ

更新日期：2012-01-01 00:00:00

abstract：:Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families displ...

journal_title：PLoS genetics

authors： Eloy P,Dehainault C,Sefta M,Aerts I,Doz F,Cassoux N,Lumbroso le Rouic L,Stoppa-Lyonnet D,Radvanyi F,Millot GA,Gauthier-Villars M,Houdayer C

更新日期：2016-02-29 00:00:00

abstract：:The Alphaproteobacteria show a remarkable diversity of cell cycle-dependent developmental patterns, which are governed by the conserved CtrA pathway. Its central component CtrA is a DNA-binding response regulator that is controlled by a complex two-component signaling network, mediating distinct transcriptional progra...

journal_title：PLoS genetics

authors： Leicht O,van Teeseling MCF,Panis G,Reif C,Wendt H,Viollier PH,Thanbichler M

更新日期：2020-04-23 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：:The cooperative developmental system of the social amoeba Dictyostelium discoideum is susceptible to exploitation by cheaters-strains that make more than their fair share of spores in chimerae. Laboratory screens in Dictyostelium have shown that the genetic potential for facultative cheating is high, and field surveys...

journal_title：PLoS genetics

authors： Khare A,Shaulsky G

更新日期：2010-02-26 00:00:00

abstract：:The phenotypic heterogeneity that characterizes human cancers reflects the enormous genetic complexity of the oncogenic process. This complexity can also be seen in mouse models where it is frequently observed that in addition to the initiating genetic alteration, the resulting tumor harbors additional, somatically ac...

journal_title：PLoS genetics

authors： Rempel RE,Mori S,Gasparetto M,Glozak MA,Andrechek ER,Adler SB,Laakso NM,Lagoo AS,Storms R,Smith C,Nevins JR

更新日期：2009-09-01 00:00:00

abstract：:Resequencing is an emerging tool for identification of rare disease-associated mutations. Rare mutations are difficult to tag with SNP genotyping, as genotyping studies are designed to detect common variants. However, studies have shown that genetic heterogeneity is a probable scenario for common diseases, in which mu...

journal_title：PLoS genetics

authors： Madsen BE,Browning SR

更新日期：2009-02-01 00:00:00

abstract：:Mutants of trt-1, the Caenorhabditis elegans telomerase reverse transcriptase, reproduce normally for several generations but eventually become sterile as a consequence of telomere erosion and end-to-end chromosome fusions. Telomere erosion and uncapping do not cause an increase in apoptosis in the germlines of trt-1 ...

journal_title：PLoS genetics

authors： Meier B,Clejan I,Liu Y,Lowden M,Gartner A,Hodgkin J,Ahmed S

更新日期：2006-02-01 00:00:00

abstract：:Plant stress responses require both protective measures that reduce or restore stress-inflicted damage to cellular structures and mechanisms that efficiently remove damaged and toxic macromolecules, such as misfolded and damaged proteins. We have recently reported that NBR1, the first identified plant autophagy adapto...

journal_title：PLoS genetics

authors： Zhou J,Zhang Y,Qi J,Chi Y,Fan B,Yu JQ,Chen Z

更新日期：2014-01-30 00:00:00

abstract：:In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We report that the mouse ortholog (Trip13) of pachytene checkpoint 2 (PCH2), an essential component of the synapsis checkpoint in...

journal_title：PLoS genetics

authors： Li XC,Schimenti JC

更新日期：2007-08-01 00:00:00

abstract：:The genome of the fission yeast Schizosaccharomyces pombe encodes 17 kinases that are essential for cell growth. These include the cell-cycle regulator Cdc2, as well as several kinases that coordinate cell growth, polarity, and morphogenesis during the cell cycle. In this study, we further characterized another of the...

journal_title：PLoS genetics

authors： Eckert D,Andrée N,Razanau A,Zock-Emmenthal S,Lützelberger M,Plath S,Schmidt H,Guerra-Moreno A,Cozzuto L,Ayté J,Käufer NF

更新日期：2016-01-05 00:00:00

abstract：:In enterobacteria, the Rcs system (Regulator of capsule synthesis) monitors envelope integrity and induces a stress response when damages occur in the outer membrane or in the peptidoglycan layer. Built around a two-component system, Rcs controls gene expression via a cascade of phosphoryl transfer reactions. Being pa...

journal_title：PLoS genetics

authors： Hussein NA,Cho SH,Laloux G,Siam R,Collet JF

更新日期：2018-05-31 00:00:00

abstract：:N-methyl-D-aspartate receptors (NMDARs), ligand-gated ionotropic glutamate receptors, play key roles in normal brain development and various neurological disorders. Here we use standing variation data from the human population to assess which protein domains within NMDAR GluN1, GluN2A and GluN2B subunits show the stro...

journal_title：PLoS genetics

authors： Ogden KK,Chen W,Swanger SA,McDaniel MJ,Fan LZ,Hu C,Tankovic A,Kusumoto H,Kosobucki GJ,Schulien AJ,Su Z,Pecha J,Bhattacharya S,Petrovski S,Cohen AE,Aizenman E,Traynelis SF,Yuan H

更新日期：2017-01-17 00:00:00

abstract：:Among the rare colonizers of heavy-metal rich toxic soils, Arabidopsis halleri is a compelling model extremophile, physiologically distinct from its sister species A. lyrata, and A. thaliana. Naturally selected metal hypertolerance and extraordinarily high leaf metal accumulation in A. halleri both require Heavy Metal...

journal_title：PLoS genetics

authors： Hanikenne M,Kroymann J,Trampczynska A,Bernal M,Motte P,Clemens S,Krämer U

更新日期：2013-01-01 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 00:00:00