Transcriptional mutagenesis induced by 8-oxoguanine in mammalian cells.

abstract：:Lifespan can be extended by reduction of dietary intake. This practice is referred to as dietary restriction (DR), and extension of lifespan by DR is evolutionarily conserved in taxonomically diverse organisms including yeast, invertebrates, and mammals. Although these two often-stated facts carry the implication that...

journal_title：PLoS genetics

authors： Piper MD,Partridge L

更新日期：2007-04-27 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：:Convergent phenotypic evolution is often caused by recurrent changes at particular nodes in the underlying gene regulatory networks (GRNs). The genes at such evolutionary 'hotspots' are thought to maximally affect the phenotype with minimal pleiotropic consequences. This has led to the suggestion that if a GRN is unde...

journal_title：PLoS genetics

authors： Kittelmann S,Buffry AD,Franke FA,Almudi I,Yoth M,Sabaris G,Couso JP,Nunes MDS,Frankel N,Gómez-Skarmeta JL,Pueyo-Marques J,Arif S,McGregor AP

更新日期：2018-05-03 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 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：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:Epigenetic gene silencing plays a critical role in regulating gene expression and contributes to organismal development and cell fate acquisition in eukaryotes. In fission yeast, Schizosaccharomyces pombe, heterochromatin-associated gene silencing is known to be mediated by RNA processing pathways including RNA interf...

journal_title：PLoS genetics

authors： Tucker JF,Ohle C,Schermann G,Bendrin K,Zhang W,Fischer T,Zhang K

更新日期：2016-02-18 00:00:00

abstract：:Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...

journal_title：PLoS genetics

authors： Seberg HE,Van Otterloo E,Loftus SK,Liu H,Bonde G,Sompallae R,Gildea DE,Santana JF,Manak JR,Pavan WJ,Williams T,Cornell RA

更新日期：2017-03-01 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：:To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P = 4.1 × 10(-11) observed for rs917727 w...

journal_title：PLoS genetics

authors： Medina-Gomez C,Kemp JP,Estrada K,Eriksson J,Liu J,Reppe S,Evans DM,Heppe DH,Vandenput L,Herrera L,Ring SM,Kruithof CJ,Timpson NJ,Zillikens MC,Olstad OK,Zheng HF,Richards JB,St Pourcain B,Hofman A,Jaddoe VW,Smith G

更新日期：2012-07-01 00:00:00

abstract：:Marine ecosystems are changing rapidly as the oceans warm and become more acidic. The physical factors and the changes to ocean chemistry that they drive can all be measured with great precision. Changes in the biological composition of communities in different ocean regions are far more challenging to measure because...

journal_title：PLoS genetics

authors： Berry TE,Saunders BJ,Coghlan ML,Stat M,Jarman S,Richardson AJ,Davies CH,Berry O,Harvey ES,Bunce M

更新日期：2019-02-08 00:00:00

abstract：:Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recess...

journal_title：PLoS genetics

authors： Chahrour MH,Yu TW,Lim ET,Ataman B,Coulter ME,Hill RS,Stevens CR,Schubert CR,ARRA Autism Sequencing Collaboration.,Greenberg ME,Gabriel SB,Walsh CA

更新日期：2012-01-01 00:00:00

abstract：:DNA sequence polymorphism in a regulatory protein can have a widespread transcriptional effect. Here we present a computational approach for analyzing modules of genes with a common regulation that are affected by specific DNA polymorphisms. We identify such regulatory-linkage modules by integrating genotypic and expr...

journal_title：PLoS genetics

authors： Gat-Viks I,Meller R,Kupiec M,Shamir R

更新日期：2010-01-01 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:Third-generation cephalosporins are a class of β-lactam antibiotics that are often used for the treatment of human infections caused by Gram-negative bacteria, especially Escherichia coli. Worryingly, the incidence of human infections caused by third-generation cephalosporin-resistant E. coli is increasing worldwide. ...

journal_title：PLoS genetics

authors： de Been M,Lanza VF,de Toro M,Scharringa J,Dohmen W,Du Y,Hu J,Lei Y,Li N,Tooming-Klunderud A,Heederik DJ,Fluit AC,Bonten MJ,Willems RJ,de la Cruz F,van Schaik W

更新日期：2014-12-18 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：:Mycoplasmas are commonly described as the simplest self-replicating organisms, whose evolution was mainly characterized by genome downsizing with a proposed evolutionary scenario similar to that of obligate intracellular bacteria such as insect endosymbionts. Thus far, analysis of mycoplasma genomes indicates a low le...

journal_title：PLoS genetics

authors： Sirand-Pugnet P,Lartigue C,Marenda M,Jacob D,Barré A,Barbe V,Schenowitz C,Mangenot S,Couloux A,Segurens B,de Daruvar A,Blanchard A,Citti C

更新日期：2007-05-18 00:00:00

abstract：:Postembryonic development in Caenorhabditis elegans is a powerful model for the study of the temporal regulation of development and for the roles of microRNAs in controlling gene expression. Stable switch-like changes in gene expression occur during development as stage-specific microRNAs are expressed and subsequentl...

journal_title：PLoS genetics

authors： Cohen ML,Kim S,Morita K,Kim SH,Han M

更新日期：2015-03-27 00:00:00

abstract：:The heart has emerged as an important organ in the regulation of systemic lipid homeostasis; however, the underlying mechanism remains poorly understood. Here, we show that Drosophila cardiomyocytes regulate systemic lipid metabolism by producing apolipoprotein B-containing lipoproteins (apoB-lipoproteins), essential ...

journal_title：PLoS genetics

authors： Lee S,Bao H,Ishikawa Z,Wang W,Lim HY

更新日期：2017-01-17 00:00:00

abstract：:Tolerance to high levels of ethanol is an ecologically and industrially relevant phenotype of microbes, but the molecular mechanisms underlying this complex trait remain largely unknown. Here, we use long-term experimental evolution of isogenic yeast populations of different initial ploidy to study adaptation to incre...

journal_title：PLoS genetics

authors： Voordeckers K,Kominek J,Das A,Espinosa-Cantú A,De Maeyer D,Arslan A,Van Pee M,van der Zande E,Meert W,Yang Y,Zhu B,Marchal K,DeLuna A,Van Noort V,Jelier R,Verstrepen KJ

更新日期：2015-11-06 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：:During neural circuit formation, most axons are guided to complex environments, coming into contact with multiple potential synaptic partners. However, it is critical that they recognize specific neurons with which to form synapses. Here, we utilize the split GFP-based marker Neuroligin-1 GFP Reconstitution Across Syn...

journal_title：PLoS genetics

authors： Varshney A,Benedetti K,Watters K,Shankar R,Tatarakis D,Coto Villa D,Magallanes K,Agenor V,Wung W,Farah F,Ali N,Le N,Pyle J,Farooqi A,Kieu Z,Bremer M,VanHoven M

更新日期：2018-05-09 00:00:00

abstract：:Synonymous mutations do not alter the specified amino acid but may alter the structure or function of an mRNA in ways that impact fitness. There are few examples in the literature, however, in which the effects of synonymous mutations on microbial growth rates have been measured, and even fewer for which the underlyin...

journal_title：PLoS genetics

authors： Kristofich J,Morgenthaler AB,Kinney WR,Ebmeier CC,Snyder DJ,Old WM,Cooper VS,Copley SD

更新日期：2018-08-27 00:00:00

abstract：:Seedling establishment is inhibited on media containing high levels (∼ 6%) of glucose or fructose. Genetic loci that overcome the inhibition of seedling growth on high sugar have been identified using natural variation analysis and mutant selection, providing insight into sugar signaling pathways. In this study, a qua...

journal_title：PLoS genetics

authors： Li P,Zhou H,Shi X,Yu B,Zhou Y,Chen S,Wang Y,Peng Y,Meyer RC,Smeekens SC,Teng S

更新日期：2014-03-13 00:00:00

abstract：:The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...

journal_title：PLoS genetics

authors： Ta-Shma A,Hjeij R,Perles Z,Dougherty GW,Abu Zahira I,Letteboer SJF,Antony D,Darwish A,Mans DA,Spittler S,Edelbusch C,Cindrić S,Nöthe-Menchen T,Olbrich H,Stuhlmann F,Aprea I,Pennekamp P,Loges NT,Breuer O,Shaag A,Re

更新日期：2018-08-27 00:00:00

abstract：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 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：:General parameters of selection, such as the frequency and strength of positive selection in natural populations or the role of introgression, are still insufficiently understood. The house mouse (Mus musculus) is a particularly well-suited model system to approach such questions, since it has a defined history of spl...

journal_title：PLoS genetics

authors： Staubach F,Lorenc A,Messer PW,Tang K,Petrov DA,Tautz D

更新日期：2012-01-01 00:00:00

abstract：:Late-Onset Alzheimer's disease (LOAD) is a common, complex genetic disorder well-known for its heterogeneous pathology. The genetic heterogeneity underlying common, complex diseases poses a major challenge for targeted therapies and the identification of novel disease-associated variants. Case-control approaches are o...

journal_title：PLoS genetics

authors： Milind N,Preuss C,Haber A,Ananda G,Mukherjee S,John C,Shapley S,Logsdon BA,Crane PK,Carter GW

更新日期：2020-06-03 00:00:00

abstract：:Cells trigger massive changes in gene expression upon environmental fluctuations. The Hog1 stress-activated protein kinase (SAPK) is an important regulator of the transcriptional activation program that maximizes cell fitness when yeast cells are exposed to osmostress. Besides being associated with transcription facto...

journal_title：PLoS genetics

authors： Silva A,Cavero S,Begley V,Solé C,Böttcher R,Chávez S,Posas F,de Nadal E

更新日期：2017-11-20 00:00:00