Optimal sequencing strategies for identifying disease-associated singletons.

abstract：:PCNA ubiquitylation on lysine 164 is required for DNA damage tolerance. In many organisms PCNA is also ubiquitylated in unchallenged S phase but the significance of this has not been established. Using Schizosaccharomyces pombe, we demonstrate that lysine 164 ubiquitylation of PCNA contributes to efficient DNA replica...

journal_title：PLoS genetics

authors： Daigaku Y,Etheridge TJ,Nakazawa Y,Nakayama M,Watson AT,Miyabe I,Ogi T,Osborne MA,Carr AM

更新日期：2017-05-08 00:00:00

abstract：:Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon ...

journal_title：PLoS genetics

authors： Newman JC,Bailey AD,Fan HY,Pavelitz T,Weiner AM

更新日期：2008-03-21 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：:Conjugative transfer of the integrative and conjugative element ICEclc in the bacterium Pseudomonas knackmussii is the consequence of a bistable decision taken in some 3% of cells in a population during stationary phase. Here we study the possible control exerted by the stationary phase sigma factor RpoS on the bistab...

journal_title：PLoS genetics

authors： Miyazaki R,Minoia M,Pradervand N,Sulser S,Reinhard F,van der Meer JR

更新日期：2012-01-01 00:00:00

abstract：:Reproductive proteins are among the fastest evolving in the proteome, often due to the consequences of positive selection, and their rapid evolution is frequently attributed to a coevolutionary process between interacting female and male proteins. Such a process could leave characteristic signatures at coevolving gene...

journal_title：PLoS genetics

authors： Clark NL,Gasper J,Sekino M,Springer SA,Aquadro CF,Swanson WJ

更新日期：2009-07-01 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：:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous muta...

journal_title：PLoS genetics

authors： Rainger J,van Beusekom E,Ramsay JK,McKie L,Al-Gazali L,Pallotta R,Saponari A,Branney P,Fisher M,Morrison H,Bicknell L,Gautier P,Perry P,Sokhi K,Sexton D,Bardakjian TM,Schneider AS,Elcioglu N,Ozkinay F,Koenig R,Még

更新日期：2011-07-01 00:00:00

abstract：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Genomic resources for the domestic dog have improved with the widespread adoption of a 173k SNP array platform and updated reference genome. SNP arrays of this density are sufficient for detecting genetic associations within breeds but are underpowered for finding associations across multiple breeds or in mixed-breed ...

journal_title：PLoS genetics

authors： Hayward JJ,White ME,Boyle M,Shannon LM,Casal ML,Castelhano MG,Center SA,Meyers-Wallen VN,Simpson KW,Sutter NB,Todhunter RJ,Boyko AR

更新日期：2019-09-16 00:00:00

abstract：:Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of del...

journal_title：PLoS genetics

authors： MacArthur JA,Spector TD,Lindsay SJ,Mangino M,Gill R,Small KS,Hurles ME

更新日期：2014-03-06 00:00:00

abstract：:Invasion of epithelial cells by Salmonella enterica requires expression of genes located in the pathogenicity island I (SPI-1). The expression of SPI-1 genes is very tightly regulated and activated only under specific conditions. Most studies have focused on the regulatory pathways that induce SPI-1 expression. Here, ...

journal_title：PLoS genetics

authors： El Mouali Y,Gaviria-Cantin T,Sánchez-Romero MA,Gibert M,Westermann AJ,Vogel J,Balsalobre C

更新日期：2018-06-07 00:00:00

abstract：:Arsenic is a well-established human carcinogen of poorly understood mechanism of genotoxicity. It is generally accepted that arsenic acts indirectly by generating oxidative DNA damage that can be converted to replication-dependent DNA double-strand breaks (DSBs), as well as by interfering with DNA repair pathways and ...

journal_title：PLoS genetics

authors： Litwin I,Bocer T,Dziadkowiec D,Wysocki R

更新日期：2013-01-01 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 00:00:00

abstract：:Alternative splicing generates protein diversity and allows for post-transcriptional gene regulation. Estimates suggest that 10% of the genes in Caenorhabditis elegans undergo alternative splicing. We constructed a splicing-sensitive microarray to detect alternative splicing for 352 cassette exons and tested for chang...

journal_title：PLoS genetics

authors： Barberan-Soler S,Zahler AM

更新日期：2008-02-29 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：:Most Cryptococccus neoformans genes are interrupted by introns, and alternative splicing occurs very often. In this study, we examined the influence of introns on C. neoformans gene expression. For most tested genes, elimination of introns greatly reduces mRNA accumulation. Strikingly, the number and the position of i...

journal_title：PLoS genetics

authors： Goebels C,Thonn A,Gonzalez-Hilarion S,Rolland O,Moyrand F,Beilharz TH,Janbon G

更新日期：2013-01-01 00:00:00

abstract：:The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While the enzyme obviously has a critical role in mammals,...

journal_title：PLoS genetics

authors： Fujihira H,Masahara-Negishi Y,Tamura M,Huang C,Harada Y,Wakana S,Takakura D,Kawasaki N,Taniguchi N,Kondoh G,Yamashita T,Funakoshi Y,Suzuki T

更新日期：2017-04-20 00:00:00

abstract：:The Caenorhabditis elegans class A and B synthetic multivulva (synMuv) genes redundantly antagonize an EGF/Ras pathway to prevent ectopic vulval induction. We identify a class A synMuv mutation in the promoter of the lin-3 EGF gene, establishing that lin-3 is the key biological target of the class A synMuv genes in vu...

journal_title：PLoS genetics

authors： Saffer AM,Kim DH,van Oudenaarden A,Horvitz HR

更新日期：2011-12-01 00:00:00

abstract：:The nuclear lamina is the structural scaffold of the nuclear envelope and is well known for its central role in nuclear organization and maintaining nuclear stability and shape. In the past, a number of severe human disorders have been identified to be associated with mutations in lamins. Extensive research on this to...

journal_title：PLoS genetics

authors： Link J,Jahn D,Schmitt J,Göb E,Baar J,Ortega S,Benavente R,Alsheimer M

更新日期：2013-01-01 00:00:00

abstract：:From genomic association studies, quantitative trait loci analysis, and epigenomic mapping, it is evident that significant efforts are necessary to define genetic-epigenetic interactions and understand their role in disease susceptibility and progression. For this reason, an analysis of the effects of genetic variatio...

journal_title：PLoS genetics

authors： Delahaye F,Do C,Kong Y,Ashkar R,Salas M,Tycko B,Wapner R,Hughes F

更新日期：2018-11-19 00:00:00

abstract：:Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between variance effects (Pv), G×E...

journal_title：PLoS genetics

authors： Shungin D,Deng WQ,Varga TV,Luan J,Mihailov E,Metspalu A,GIANT Consortium.,Morris AP,Forouhi NG,Lindgren C,Magnusson PKE,Pedersen NL,Hallmans G,Chu AY,Justice AE,Graff M,Winkler TW,Rose LM,Langenberg C,Cupples LA,R

更新日期：2017-06-14 00:00:00

abstract：:RAD6 is known to suppress duplication-mediated gross chromosomal rearrangements (GCRs) but not single-copy sequence mediated GCRs. Here, we found that the RAD6- and RAD18-dependent post-replication repair (PRR) and the RAD5-, MMS2-, UBC13-dependent error-free PRR branch acted in concert with the replication stress che...

journal_title：PLoS genetics

authors： Putnam CD,Hayes TK,Kolodner RD

更新日期：2010-05-06 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1005854.]. ...

journal_title：PLoS genetics

authors： PLOS Genetics Staff.

更新日期：2016-05-12 00:00:00

abstract：:Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

journal_title：PLoS genetics

authors： Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

更新日期：2016-08-25 00:00:00

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：:Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...

journal_title：PLoS genetics

authors： van der Does HC,Fokkens L,Yang A,Schmidt SM,Langereis L,Lukasiewicz JM,Hughes TR,Rep M

更新日期：2016-11-17 00:00:00

abstract：:Sleep is a nearly universal behavior that is regulated by diverse environmental stimuli and physiological states. A defining feature of sleep is a homeostatic rebound following deprivation, where animals compensate for lost sleep by increasing sleep duration and/or sleep depth. The fruit fly, Drosophila melanogaster, ...

journal_title：PLoS genetics

authors： Brown EB,Shah KD,Faville R,Kottler B,Keene AC

更新日期：2020-03-11 00:00:00

abstract：:Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...

journal_title：PLoS genetics

authors： Bhatnagar SR,Yang Y,Lu T,Schurr E,Loredo-Osti JC,Forest M,Oualkacha K,Greenwood CMT

更新日期：2020-05-04 00:00:00