The NADPH metabolic network regulates human αB-crystallin cardiomyopathy and reductive stress in Drosophila melanogaster.

abstract：:Homology-dependent repair of DNA double-strand breaks (DSBs) by gene conversion involves short tracts of DNA synthesis and limited loss of heterozygosity (LOH). For DSBs that present only one end, repair occurs by invasion into a homologous sequence followed by replication to the end of the chromosome resulting in ext...

journal_title：PLoS genetics

authors： Marrero VA,Symington LS

更新日期：2010-07-08 00:00:00

abstract：:Viruses have exerted a constant and potent selective pressure on human genes throughout evolution. We utilized the marks left by selection on allele frequency to identify viral infection-associated allelic variants. Virus diversity (the number of different viruses in a geographic region) was used to measure virus-driv...

journal_title：PLoS genetics

authors： Fumagalli M,Pozzoli U,Cagliani R,Comi GP,Bresolin N,Clerici M,Sironi M

更新日期：2010-02-19 00:00:00

abstract：:Nutrient stresses trigger a variety of developmental switches in the budding yeast Saccharomyces cerevisiae. One of the least understood of such responses is the development of complex colony morphology, characterized by intricate, organized, and strain-specific patterns of colony growth and architecture. The genetic ...

journal_title：PLoS genetics

authors： Granek JA,Magwene PM

更新日期：2010-01-22 00:00:00

abstract：:The previously identified LRS (Loss of rDNA Silencing) domain of the nucleosome is critically important for silencing at both ribosomal DNA and telomeres. To understand the function of the LRS surface in silencing, we performed an EMS mutagenesis screen to identify suppressors of the H3 A75V LRS allele. We identified ...

journal_title：PLoS genetics

authors： Norris A,Bianchet MA,Boeke JD

更新日期：2008-12-01 00:00:00

abstract：:Bacteria can arrest their own growth and proliferation upon nutrient depletion and under various stressful conditions to ensure their survival. However, the molecular mechanisms responsible for suppressing growth and arresting the cell cycle under such conditions remain incompletely understood. Here, we identify post-...

journal_title：PLoS genetics

authors： Leslie DJ,Heinen C,Schramm FD,Thüring M,Aakre CD,Murray SM,Laub MT,Jonas K

更新日期：2015-07-02 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：:Polygenic scores are increasingly powerful predictors of educational achievement. It is unclear, however, how sets of polygenic scores, which partly capture environmental effects, perform jointly with sets of environmental measures, which are themselves heritable, in prediction models of educational achievement. Here,...

journal_title：PLoS genetics

authors： Allegrini AG,Karhunen V,Coleman JRI,Selzam S,Rimfeld K,von Stumm S,Pingault JB,Plomin R

更新日期：2020-11-17 00:00:00

abstract：:Translesion DNA synthesis (TLS) is a DNA damage tolerance mechanism in which specialized low-fidelity DNA polymerases bypass replication-blocking lesions, and it is usually associated with mutagenesis. In Saccharomyces cerevisiae a key event in TLS is the monoubiquitination of PCNA, which enables recruitment of the sp...

journal_title：PLoS genetics

authors： Hendel A,Krijger PH,Diamant N,Goren Z,Langerak P,Kim J,Reissner T,Lee KY,Geacintov NE,Carell T,Myung K,Tateishi S,D'Andrea A,Jacobs H,Livneh Z

更新日期：2011-09-01 00:00:00

abstract：:Pre-mRNAs are often processed in complex patterns in tissue-specific manners to produce a variety of protein isoforms from single genes. However, mechanisms orchestrating the processing of the entire transcript are not well understood. Muscle-specific alternative pre-mRNA processing of the unc-60 gene in Caenorhabditi...

journal_title：PLoS genetics

authors： Ohno G,Ono K,Togo M,Watanabe Y,Ono S,Hagiwara M,Kuroyanagi H

更新日期：2012-01-01 00:00:00

abstract：:Male fertility requires the continuous production of high quality motile spermatozoa in abundance. Alterations in all three metrics cause oligoasthenoteratozoospermia, the leading cause of human sub/infertility. Post-mitotic spermatogenesis inclusive of several meiotic stages and spermiogenesis (terminal spermatozoa d...

journal_title：PLoS genetics

authors： Comazzetto S,Di Giacomo M,Rasmussen KD,Much C,Azzi C,Perlas E,Morgan M,O'Carroll D

更新日期：2014-10-16 00:00:00

abstract：:The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using ...

journal_title：PLoS genetics

authors： Gaudet MM,Kirchhoff T,Green T,Vijai J,Korn JM,Guiducci C,Segrè AV,McGee K,McGuffog L,Kartsonaki C,Morrison J,Healey S,Sinilnikova OM,Stoppa-Lyonnet D,Mazoyer S,Gauthier-Villars M,Sobol H,Longy M,Frenay M,GEMO Study

更新日期：2010-10-28 00:00:00

abstract：:Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations ...

journal_title：PLoS genetics

authors： Yehia L,Ni Y,Sesock K,Niazi F,Fletcher B,Chen HJL,LaFramboise T,Eng C

更新日期：2018-04-23 00:00:00

abstract：:Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation. In the mouse, the existence of an intragenomic conflict between X- and Y-linked mult...

journal_title：PLoS genetics

authors： Cocquet J,Ellis PJ,Mahadevaiah SK,Affara NA,Vaiman D,Burgoyne PS

更新日期：2012-09-01 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:Vertical growth of plants is a dynamic process that is influenced by genetic and environmental factors and has a pronounced effect on overall plant architecture and biomass composition. We have performed six controlled growth trials of an interspecific Setaria italica x Setaria viridis recombinant inbred line populati...

journal_title：PLoS genetics

authors： Feldman MJ,Paul RE,Banan D,Barrett JF,Sebastian J,Yee MC,Jiang H,Lipka AE,Brutnell TP,Dinneny JR,Leakey ADB,Baxter I

更新日期：2017-06-23 00:00:00

abstract：:Gene expression responds to changes in conditions but also stochastically among individuals. In budding yeast, both expression responsiveness across conditions ("plasticity") and cell-to-cell variation ("noise") have been quantified for thousands of genes and found to correlate across genes. It has been argued therefo...

journal_title：PLoS genetics

authors： Lehner B

更新日期：2010-11-04 00:00:00

abstract：:The extent that both positive and negative selection vary across different portions of plant genomes remains poorly understood. Here, we sequence whole genomes of 13 Capsella grandiflora individuals and quantify the amount of selection across the genome. Using an estimate of the distribution of fitness effects, we sho...

journal_title：PLoS genetics

authors： Williamson RJ,Josephs EB,Platts AE,Hazzouri KM,Haudry A,Blanchette M,Wright SI

更新日期：2014-09-25 00:00:00

abstract：:This work analyses the genetic variation and evolutionary patterns of recessive resistance loci involved in matching-allele (MA) host-pathogen interactions, focusing on the pvr2 resistance gene to potyviruses of the wild pepper Capsicum annuum glabriusculum (chiltepin). Chiltepin grows in a variety of wild habitats in...

journal_title：PLoS genetics

authors： Poulicard N,Pacios LF,Gallois JL,Piñero D,García-Arenal F

更新日期：2016-08-04 00:00:00

abstract：:The kinetochore is the central molecular machine that drives chromosome segregation in all eukaryotes. Genetic studies have suggested that protein sumoylation plays a role in regulating the inner kinetochore; however, the mechanism remains elusive. Here, we show that Saccharomyces cerevisiae Ulp2, an evolutionarily co...

journal_title：PLoS genetics

authors： Suhandynata RT,Quan Y,Yang Y,Yuan WT,Albuquerque CP,Zhou H

更新日期：2019-11-20 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00

abstract：:High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circula...

journal_title：PLoS genetics

authors： Bigham A,Bauchet M,Pinto D,Mao X,Akey JM,Mei R,Scherer SW,Julian CG,Wilson MJ,López Herráez D,Brutsaert T,Parra EJ,Moore LG,Shriver MD

更新日期：2010-09-09 00:00:00

abstract：:Some imprinted genes exhibit parental origin specific expression bias rather than being transcribed exclusively from one copy. The physiological relevance of this remains poorly understood. In an analysis of brain-specific allele-biased expression, we identified that Trappc9, a cellular trafficking factor, was express...

journal_title：PLoS genetics

authors： Liang ZS,Cimino I,Yalcin B,Raghupathy N,Vancollie VE,Ibarra-Soria X,Firth HV,Rimmington D,Farooqi IS,Lelliott CJ,Munger SC,O'Rahilly S,Ferguson-Smith AC,Coll AP,Logan DW

更新日期：2020-09-02 00:00:00

abstract：:Bacteria can survive antibiotic treatment without acquiring heritable antibiotic resistance. We investigated persistence to the fluoroquinolone ciprofloxacin in Escherichia coli. Our data show that a majority of persisters to ciprofloxacin were formed upon exposure to the antibiotic, in a manner dependent on the SOS g...

journal_title：PLoS genetics

authors： Dörr T,Lewis K,Vulić M

更新日期：2009-12-01 00:00:00

abstract：:We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in orde...

journal_title：PLoS genetics

authors： Marcheco-Teruel B,Parra EJ,Fuentes-Smith E,Salas A,Buttenschøn HN,Demontis D,Torres-Español M,Marín-Padrón LC,Gómez-Cabezas EJ,Alvarez-Iglesias V,Mosquera-Miguel A,Martínez-Fuentes A,Carracedo A,Børglum AD,Mors O

更新日期：2014-07-24 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004496.]. ...

journal_title：PLoS genetics

authors： Schwartze VU,Winter S,Shelest E,Marcet-Houben M,Horn F,Wehner S,Linde J,Valiante V,Sammeth M,Riege K,Nowrousian M,Kaerger K,Jacobsen ID,Marz M,Brakhage AA,Gabaldón T,Böcker S,Voigt K

更新日期：2016-12-05 00:00:00

abstract：:Recent and classical work has revealed biologically and medically significant subtypes in complex diseases and traits. However, relevant subtypes are often unknown, unmeasured, or actively debated, making automated statistical approaches to subtype definition valuable. We propose reverse GWAS (RGWAS) to identify and v...

journal_title：PLoS genetics

authors： Dahl A,Cai N,Ko A,Laakso M,Pajukanta P,Flint J,Zaitlen N

更新日期：2019-04-05 00:00:00

abstract：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00

abstract：:Target of Rapamycin (TOR) signalling allows eukaryotic cells to adjust cell growth in response to changes in their nutritional and environmental context. The two distinct TOR complexes (TORC1/2) localise to the cell's internal membrane compartments; the endoplasmic reticulum (ER), Golgi apparatus and lysosomes/vacuole...

journal_title：PLoS genetics

authors： Kowalczyk KM,Petersen J

更新日期：2016-05-18 00:00:00

abstract：:The C. elegans ortholog of mammalian calsyntenins, CASY-1, is an evolutionarily conserved type-I transmembrane protein that is highly enriched in the nervous system. Mammalian calsyntenins are strongly expressed at inhibitory synapses, but their role in synapse development and function is still elusive. Here, we repor...

journal_title：PLoS genetics

authors： Thapliyal S,Vasudevan A,Dong Y,Bai J,Koushika SP,Babu K

更新日期：2018-03-12 00:00:00

abstract：:Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of individuals and for identifying trait-associated variants. Nevertheless, GWAS often leave much of the trait heritability unexplained. We hypothesized that some of this ...

journal_title：PLoS genetics

authors： Sanna S,Li B,Mulas A,Sidore C,Kang HM,Jackson AU,Piras MG,Usala G,Maninchedda G,Sassu A,Serra F,Palmas MA,Wood WH 3rd,Njølstad I,Laakso M,Hveem K,Tuomilehto J,Lakka TA,Rauramaa R,Boehnke M,Cucca F,Uda M,Schles

更新日期：2011-07-01 00:00:00