Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

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：:Smc5/6, a member of the conserved SMC family of complexes, is essential for growth in most organisms. Its exact functions in a mitotic cell cycle are controversial, as chronic Smc5/6 loss-of-function alleles produce varying phenotypes. To circumvent this issue, we acutely depleted Smc5/6 in budding yeast and determine...

journal_title：PLoS genetics

authors： Peng XP,Lim S,Li S,Marjavaara L,Chabes A,Zhao X

更新日期：2018-01-23 00:00:00

abstract：:RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by feeding can lead to heritable changes in phenotype and gene exp...

journal_title：PLoS genetics

authors： Bezler A,Braukmann F,West SM,Duplan A,Conconi R,Schütz F,Gönczy P,Piano F,Gunsalus K,Miska EA,Keller L

更新日期：2019-02-08 00:00:00

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:Bacterial diversification is often observed, but underlying mechanisms are difficult to disentangle and remain generally unknown. Moreover, controlled diversification experiments in ecologically relevant environments are lacking. We studied bacterial diversification in the mammalian gut, one of the most complex bacter...

journal_title：PLoS genetics

authors： De Paepe M,Gaboriau-Routhiau V,Rainteau D,Rakotobe S,Taddei F,Cerf-Bensussan N

更新日期：2011-06-01 00:00:00

abstract：:The genetic basis of floral symmetry is a topic of great interest because of its effect on pollinator behavior and, consequently, plant diversification. The Asteraceae, which is the largest family of flowering plants, is an ideal system in which to study this trait, as many species within the family exhibit a compound...

journal_title：PLoS genetics

authors： Chapman MA,Tang S,Draeger D,Nambeesan S,Shaffer H,Barb JG,Knapp SJ,Burke JM

更新日期：2012-01-01 00:00:00

abstract：:While there has been much recent focus on the ecological causes of adaptive diversification, we know less about the genetic nature of the trade-offs in resource use that create and maintain stable, diversified ecotypes. Here we show how a regulatory genetic change can contribute to sympatric diversification caused by ...

journal_title：PLoS genetics

authors： Spencer CC,Bertrand M,Travisano M,Doebeli M

更新日期：2007-01-19 00:00:00

abstract：:The secondary structure of a pre-mRNA influences a number of processing steps including alternative splicing. Since most splicing regulatory proteins bind to single-stranded RNA, the sequestration of RNA into double strands could prevent their binding. Here, we analyzed the secondary structure context of experimentall...

journal_title：PLoS genetics

authors： Hiller M,Zhang Z,Backofen R,Stamm S

更新日期：2007-11-01 00:00:00

abstract：:The Core Binding Factor (CBF) protein RUNX1 is a master regulator of definitive hematopoiesis, crucial for hematopoietic stem cell (HSC) emergence during ontogeny. RUNX1 also plays vital roles in adult mice, in regulating the correct specification of numerous blood lineages. Akin to the other mammalian Runx genes, Run...

journal_title：PLoS genetics

authors： Draper JE,Sroczynska P,Tsoulaki O,Leong HS,Fadlullah MZ,Miller C,Kouskoff V,Lacaud G

更新日期：2016-01-25 00:00:00

abstract：:Gap junctions are present in both vertebrates and invertebrates from nematodes to mammals. Although the importance of gap junctions has been documented in many biological processes, the molecular mechanisms underlying gap junction dynamics remain unclear. Here, using the C. elegans PLM neurons as a model, we show that...

journal_title：PLoS genetics

authors： Meng L,Chen CH,Yan D

更新日期：2016-03-25 00:00:00

abstract：:Genome-wide association studies (GWAS) have transformed our understanding of the genetics of complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic variants that affect gene expression (expression quantitative trait loci, or eQTLs) is c...

journal_title：PLoS genetics

authors： Peters JE,Lyons PA,Lee JC,Richard AC,Fortune MD,Newcombe PJ,Richardson S,Smith KG

更新日期：2016-03-25 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：:DNA methylation is an evolutionarily conserved epigenetic modification that is critical for gene silencing and the maintenance of genome integrity. In Arabidopsis thaliana, the de novo DNA methyltransferase, domains rearranged methyltransferase 2 (DRM2), is targeted to specific genomic loci by 24 nt small interfering ...

journal_title：PLoS genetics

authors： Law JA,Vashisht AA,Wohlschlegel JA,Jacobsen SE

更新日期：2011-07-01 00:00:00

abstract：:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make...

journal_title：PLoS genetics

authors： Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier C

更新日期：2012-01-01 00:00:00

abstract：:Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to...

journal_title：PLoS genetics

authors： Hong Y,Sonneville R,Agostinho A,Meier B,Wang B,Blow JJ,Gartner A

更新日期：2016-03-24 00:00:00

abstract：:In metazoans, apoptotic cells are swiftly engulfed by phagocytes and degraded inside phagosomes. Multiple small GTPases in the Rab family are known to function in phagosome maturation by regulating vesicle trafficking. We discovered rab-35 as a new gene important for apoptotic cell clearance from a genetic screen targ...

journal_title：PLoS genetics

authors： Haley R,Wang Y,Zhou Z

更新日期：2018-08-23 00:00:00

abstract：:70 kDa heat shock proteins (Hsp70) are essential chaperones of the protein quality control network; vital for cellular fitness and longevity. The four cytosolic Hsp70's in yeast, Ssa1-4, are thought to be functionally redundant but the absence of Ssa1 and Ssa2 causes a severe reduction in cellular reproduction and acc...

journal_title：PLoS genetics

authors： Andersson R,Eisele-Bürger AM,Hanzén S,Vielfort K,Öling D,Eisele F,Johansson G,Gustafsson T,Kvint K,Nyström T

更新日期：2021-01-11 00:00:00

abstract：:Diet is a crucial determinant of organismal biology; interactions between the host, its diet, and its microbiota are critical to determining the health of an organism. A variety of genetic and biochemical means were used to assay stress sensitivity in C. elegans reared on two standard laboratory diets: E. coli OP50, t...

journal_title：PLoS genetics

authors： Revtovich AV,Lee R,Kirienko NV

更新日期：2019-03-13 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：:Hydrolysis of ATP by partition ATPases, although considered a key step in the segregation mechanism that assures stable inheritance of plasmids, is intrinsically very weak. The cognate centromere-binding protein (CBP), together with DNA, stimulates the ATPase to hydrolyse ATP and to undertake the relocation that incit...

journal_title：PLoS genetics

authors： Ah-Seng Y,Rech J,Lane D,Bouet JY

更新日期：2013-01-01 00:00:00

abstract：:A crucial step in the development of muscle cells in all metazoan animals is the assembly and anchorage of the sarcomere, the essential repeat unit responsible for muscle contraction. In Caenorhabditis elegans, many of the critical proteins involved in this process have been uncovered through mutational screens focusi...

journal_title：PLoS genetics

authors： Meissner B,Warner A,Wong K,Dube N,Lorch A,McKay SJ,Khattra J,Rogalski T,Somasiri A,Chaudhry I,Fox RM,Miller DM 3rd,Baillie DL,Holt RA,Jones SJ,Marra MA,Moerman DG

更新日期：2009-06-01 00:00:00

abstract：:The exclusive localization of the histone H3 variant CENP-A to centromeres is essential for accurate chromosome segregation. Ubiquitin-mediated proteolysis helps to ensure that CENP-A does not mislocalize to euchromatin, which can lead to genomic instability. Consistent with this, overexpression of the budding yeast C...

journal_title：PLoS genetics

authors： Hildebrand EM,Biggins S

更新日期：2016-03-16 00:00:00

abstract：:Abnormal accumulation of the microtubule-interacting protein tau is associated with neurodegenerative diseases including Alzheimer's disease (AD). β-amyloid (Aβ) lies upstream of abnormal tau behavior, including detachment from microtubules, phosphorylation at several disease-specific sites, and self-aggregation into ...

journal_title：PLoS genetics

authors： Ando K,Maruko-Otake A,Ohtake Y,Hayashishita M,Sekiya M,Iijima KM

更新日期：2016-03-29 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004936.]. ...

journal_title：PLoS genetics

authors： Feng B,Liu C,de Oliveira MV,Intorne AC,Li B,Babilonia K,de Souza Filho GA,Shan L,He P

更新日期：2016-09-09 00:00:00

abstract：:Insect cuticle is composed mainly of structural proteins and the polysaccharide chitin. The CPR family is the largest family of cuticle proteins (CPs), which can be further divided into three subgroups based on the presence of one of the three presumptive chitin-binding sequence motifs denoted as Rebers-Riddiford (R&R...

journal_title：PLoS genetics

authors： Noh MY,Muthukrishnan S,Kramer KJ,Arakane Y

更新日期：2015-02-09 00:00:00

abstract：:Qsp1 is a secreted quorum sensing peptide required for virulence of the fungal meningitis pathogen Cryptococcus neoformans. Qsp1 functions to control cell wall integrity in vegetatively growing cells and also functions in mating. Rather than acting on a cell surface receptor, Qsp1 is imported to act intracellularly vi...

journal_title：PLoS genetics

authors： Summers DK,Perry DS,Rao B,Madhani HD

更新日期：2020-09-21 00:00:00

abstract：:Quantitative genetic analysis has long been used to study how natural variation of genotype can influence an organism's phenotype. While most studies have focused on genetic determinants of phenotypic average, it is rapidly becoming understood that stochastic noise is genetically determined. However, it is not known h...

journal_title：PLoS genetics

authors： Jimenez-Gomez JM,Corwin JA,Joseph B,Maloof JN,Kliebenstein DJ

更新日期：2011-09-01 00:00:00

abstract：:Genome-wide association studies have successfully identified thousands of loci for a range of human complex traits and diseases. The proportion of phenotypic variance explained by significant associations is, however, limited. Given the same dense SNP panels, mixed model analyses capture a greater proportion of phenot...

journal_title：PLoS genetics

authors： Xia C,Amador C,Huffman J,Trochet H,Campbell A,Porteous D,Generation Scotland.,Hastie ND,Hayward C,Vitart V,Navarro P,Haley CS

更新日期：2016-02-02 00:00:00

abstract：:A complex program of translational repression, mRNA localization, and translational activation ensures that Oskar (Osk) protein accumulates only at the posterior pole of the Drosophila oocyte. Inappropriate expression of Osk disrupts embryonic axial patterning, and is lethal. A key factor in translational repression i...

journal_title：PLoS genetics

authors： Kim G,Pai CI,Sato K,Person MD,Nakamura A,Macdonald PM

更新日期：2015-02-27 00:00:00

abstract：:Studies in model organisms suggest that epistasis may play an important role in the etiology of complex diseases and traits in humans. With the era of large-scale genome-wide association studies fast approaching, it is important to quantify whether it will be possible to detect interacting loci using realistic sample ...

journal_title：PLoS genetics

authors： Evans DM,Marchini J,Morris AP,Cardon LR

更新日期：2006-09-22 00:00:00