Tdp1 processes chromate-induced single-strand DNA breaks that collapse replication forks.

abstract：:Genetic studies have identified substantial non-African admixture in the Horn of Africa (HOA). In the most recent genomic studies, this non-African ancestry has been attributed to admixture with Middle Eastern populations during the last few thousand years. However, mitochondrial and Y chromosome data are suggestive o...

journal_title：PLoS genetics

authors： Hodgson JA,Mulligan CJ,Al-Meeri A,Raaum RL

更新日期：2014-06-12 00:00:00

abstract：:Meiotic crossovers (COs) are important for reshuffling genetic information between homologous chromosomes and they are essential for their correct segregation. COs are unevenly distributed along chromosomes and the underlying mechanisms controlling CO localization are not well understood. We previously showed that mei...

journal_title：PLoS genetics

authors： Christophorou N,She W,Long J,Hurel A,Beaubiat S,Idir Y,Tagliaro-Jahns M,Chambon A,Solier V,Vezon D,Grelon M,Feng X,Bouché N,Mézard C

更新日期：2020-06-29 00:00:00

abstract：:Chromosome 3p21-22 harbors two clusters of chemokine receptor genes, several of which serve as major or minor coreceptors of HIV-1. Although the genetic association of CCR5 and CCR2 variants with HIV-1 pathogenesis is well known, the role of variation in other nearby chemokine receptor genes remain unresolved. We geno...

journal_title：PLoS genetics

authors： An P,Li R,Wang JM,Yoshimura T,Takahashi M,Samudralal R,O'Brien SJ,Phair J,Goedert JJ,Kirk GD,Troyer JL,Sezgin E,Buchbinder SP,Donfield S,Nelson GW,Winkler CA

更新日期：2011-10-01 00:00:00

abstract：:Checkpoint pathways regulate genomic integrity in part by blocking anaphase until all chromosomes have been completely replicated, repaired, and correctly aligned on the spindle. In Saccharomyces cerevisiae, DNA damage and mono-oriented or unattached kinetochores trigger checkpoint pathways that bifurcate to regulate ...

journal_title：PLoS genetics

authors： Searle JS,Wood MD,Kaur M,Tobin DV,Sanchez Y

更新日期：2011-07-01 00:00:00

abstract：:Obesity is defined by excessive lipid accumulation. However, the active mechanistic roles that lipids play in its progression are not understood. Accumulation of ceramide, the metabolic hub of sphingolipid metabolism, has been associated with metabolic syndrome and obesity in humans and model systems. Here, we use Dro...

journal_title：PLoS genetics

authors： Walls SM Jr,Attle SJ,Brulte GB,Walls ML,Finley KD,Chatfield DA,Herr DR,Harris GL

更新日期：2013-01-01 00:00:00

abstract：:Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...

journal_title：PLoS genetics

authors： Muggenthaler MM,Chowdhury B,Hasan SN,Cross HE,Mark B,Harlalka GV,Patton MA,Ishida M,Behr ER,Sharma S,Zahka K,Faqeih E,Blakley B,Jackson M,Lees M,Dolinsky V,Cross L,Stanier P,Salter C,Baple EL,Alkuraya FS,Crosby

更新日期：2017-01-12 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:Colicins are plasmid-encoded narrow spectrum antibiotics that are synthesized by strains of Escherichia coli and govern intraspecies competition. In a previous report, we demonstrated that the global transcriptional factor IscR, co dependently with the master regulator of the DNA damage response, LexA, delays inductio...

journal_title：PLoS genetics

authors： Kamenšek S,Browning DF,Podlesek Z,Busby SJ,Žgur-Bertok D,Butala M

更新日期：2015-06-26 00:00:00

abstract：:Gene retroposition leads to considerable genetic variation between individuals. Recent studies revealed the presence of at least 208 retroduplication variations (RDVs), a class of polymorphisms, in which a retrocopy is present or absent from individual genomes. Most of these RDVs resulted from recent retroduplications...

journal_title：PLoS genetics

authors： Kabza M,Kubiak MR,Danek A,Rosikiewicz W,Deorowicz S,Polański A,Makałowska I

更新日期：2015-10-16 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：:Dimethylation of histone H3 lysine 9 (H3K9m2) and trimethylation of histone H3 lysine 27 (H3K27m3) are two hallmarks of transcriptional repression in many organisms. In Arabidopsis thaliana, H3K27m3 is targeted by Polycomb Group (PcG) proteins and is associated with silent protein-coding genes, while H3K9m2 is correla...

journal_title：PLoS genetics

authors： Deleris A,Stroud H,Bernatavichute Y,Johnson E,Klein G,Schubert D,Jacobsen SE

更新日期：2012-01-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is an autoimmune disease with known genetic, epigenetic, and environmental risk factors. To assess the role of DNA methylation in SLE, we collected CD4+ T-cells, CD19+ B-cells, and CD14+ monocytes from 49 SLE patients and 58 controls, and performed genome-wide DNA methylation analysi...

journal_title：PLoS genetics

authors： Absher DM,Li X,Waite LL,Gibson A,Roberts K,Edberg J,Chatham WW,Kimberly RP

更新日期：2013-01-01 00:00:00

abstract：:Vegetative phase change is regulated by a decrease in the abundance of the miRNAs, miR156 and miR157, and the resulting increase in the expression of their targets, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) transcription factors. To determine how miR156/miR157 specify the quantitative and qualitative changes in lea...

journal_title：PLoS genetics

authors： He J,Xu M,Willmann MR,McCormick K,Hu T,Yang L,Starker CG,Voytas DF,Meyers BC,Poethig RS

更新日期：2018-04-19 00:00:00

abstract：:Monospermic fertilization is mediated by the extracellular zona pellucida composed of ZP1, ZP2 and ZP3. Sperm bind to the N-terminus of ZP2 which is cleaved after fertilization by ovastacin (encoded by Astl) exocytosed from egg cortical granules to prevent sperm binding. AstlNull mice lack the post-fertilization block...

journal_title：PLoS genetics

authors： Xiong B,Zhao Y,Beall S,Sadusky AB,Dean J

更新日期：2017-01-23 00:00:00

abstract：:The phenotype of the spontaneous mutant mouse hop-sterile (hop) is characterized by a hopping gait, polydactyly, hydrocephalus, and male sterility. Previous analyses of the hop mouse revealed a deficiency of inner dynein arms in motile cilia and a lack of sperm flagella, potentially accounting for the hydrocephalus an...

journal_title：PLoS genetics

authors： Swiderski RE,Nakano Y,Mullins RF,Seo S,Bánfi B

更新日期：2014-10-23 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：:A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

journal_title：PLoS genetics

authors： Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

更新日期：2008-04-25 00:00:00

abstract：:One of the crucial steps in endochondral bone formation is the replacement of a cartilage matrix produced by chondrocytes with bone trabeculae made by osteoblasts. However, the precise sources of osteoblasts responsible for trabecular bone formation have not been fully defined. To investigate whether cells derived fro...

journal_title：PLoS genetics

authors： Zhou X,von der Mark K,Henry S,Norton W,Adams H,de Crombrugghe B

更新日期：2014-12-04 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Transposable elements (TEs) are genomic parasites that selfishly replicate at the expense of host fitness. Fifty years of evolutionary studies of TEs have concentrated on the deleterious genetic effects of TEs, such as their effects on disrupting genes and regulatory sequences. However, a flurry of recent work suggest...

journal_title：PLoS genetics

authors： Choi JY,Lee YCG

更新日期：2020-07-16 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：:Single nucleotide polymorphisms (SNPs) on chromosome 9p21 are associated with coronary artery disease, diabetes, and multiple cancers. Risk SNPs are mainly non-coding, suggesting that they influence expression and may act in cis. We examined the association between 56 SNPs in this region and peripheral blood expressio...

journal_title：PLoS genetics

authors： Cunnington MS,Santibanez Koref M,Mayosi BM,Burn J,Keavney B

更新日期：2010-04-08 00:00:00

abstract：:High-throughput genetic screens are powerful methods to identify genes linked to a given phenotype. The catalytic null mutant of the Cas9 RNA-guided nuclease (dCas9) can be conveniently used to silence genes of interest in a method also known as CRISPRi. Here, we report a genome-wide CRISPR-dCas9 screen using a starti...

journal_title：PLoS genetics

authors： Rousset F,Cui L,Siouve E,Becavin C,Depardieu F,Bikard D

更新日期：2018-11-07 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：:During meiotic prophase I, double-strand breaks (DSBs) initiate homologous recombination leading to non-crossovers (NCOs) and crossovers (COs). In mouse, 10% of DSBs are designated to become COs, primarily through a pathway dependent on the MLH1-MLH3 heterodimer (MutLγ). Mlh3 contains an endonuclease domain that is cr...

journal_title：PLoS genetics

authors： Toledo M,Sun X,Brieño-Enríquez MA,Raghavan V,Gray S,Pea J,Milano CR,Venkatesh A,Patel L,Borst PL,Alani E,Cohen PE

更新日期：2019-06-06 00:00:00

abstract：:Hypermutation of the immunoglobulin (Ig) genes requires Activation Induced cytidine Deaminase (AID) and transcription, but it remains unclear why other transcribed genes of B cells do not mutate. We describe a reporter transgene crippled by hypermutation when inserted into or near the Ig light chain (IgL) locus of the...

journal_title：PLoS genetics

authors： Blagodatski A,Batrak V,Schmidl S,Schoetz U,Caldwell RB,Arakawa H,Buerstedde JM

更新日期：2009-01-01 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：: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：:[This corrects the article DOI: 10.1371/journal.pgen.1006396.]. ...

journal_title：PLoS genetics

authors： Hibshman JD,Hung A,Baugh LR

更新日期：2018-08-30 00:00:00

abstract：:Zeins, the predominent storage proteins in maize endosperm, are encoded by multiple genes and gene families. However, only a few transcriptional factors for zein gene regulation have been functionally characterized. In this study, a MADS-box protein, namely ZmMADS47, was identified as an Opaque2 (O2) interacting prote...

journal_title：PLoS genetics

authors： Qiao Z,Qi W,Wang Q,Feng Y,Yang Q,Zhang N,Wang S,Tang Y,Song R

更新日期：2016-04-14 00:00:00