abstract：:Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families displ...

journal_title：PLoS genetics

authors： Eloy P,Dehainault C,Sefta M,Aerts I,Doz F,Cassoux N,Lumbroso le Rouic L,Stoppa-Lyonnet D,Radvanyi F,Millot GA,Gauthier-Villars M,Houdayer C

更新日期：2016-02-29 00:00:00

abstract：:Unlike mammals and birds, teleost fish undergo external embryogenesis, and therefore their embryos are constantly challenged by stresses from their living environment. These stresses, when becoming too harsh, will cause arrest of cell proliferation, abnormal cell death or senescence. Such organisms have to evolve a so...

journal_title：PLoS genetics

authors： Hu M,Bai Y,Zhang C,Liu F,Cui Z,Chen J,Peng J

更新日期：2016-02-22 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：:Intestinal stem cell (ISC) self-renewal and proliferation are directed by Wnt/β-catenin signaling in mammals, whereas aberrant Wnt pathway activation in ISCs triggers the development of human colorectal carcinoma. Herein, we have utilized the Drosophila midgut, a powerful model for ISC regulation, to elucidate the mec...

journal_title：PLoS genetics

authors： Tian A,Benchabane H,Wang Z,Ahmed Y

更新日期：2016-02-04 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：:Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutation...

journal_title：PLoS genetics

authors： Fernández-Murray JP,Prykhozhij SV,Dufay JN,Steele SL,Gaston D,Nasrallah GK,Coombs AJ,Liwski RS,Fernandez CV,Berman JN,McMaster CR

更新日期：2016-01-28 00:00:00

abstract：:The Drosophila testis is a well-established system for studying stem cell self-renewal and competition. In this tissue, the niche supports two stem cell populations, germ line stem cells (GSCs), which give rise to sperm, and somatic stem cells called cyst stem cells (CySCs), which support GSCs and their descendants. I...

journal_title：PLoS genetics

authors： Amoyel M,Anderson J,Suisse A,Glasner J,Bach EA

更新日期：2016-01-25 00:00:00

abstract：:Most of the genetic architecture of schizophrenia (SCZ) has not yet been identified. Here, we apply a novel statistical algorithm called Covariate-Modulated Mixture Modeling (CM3), which incorporates auxiliary information (heterozygosity, total linkage disequilibrium, genomic annotations, pleiotropy) for each single n...

journal_title：PLoS genetics

authors： Wang Y,Thompson WK,Schork AJ,Holland D,Chen CH,Bettella F,Desikan RS,Li W,Witoelar A,Zuber V,Devor A,Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.,Enhancing Neuro Imaging Genetics throug

更新日期：2016-01-25 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：:Fanconi Anemia (FA) is a rare autosomal recessive disorder characterized by hypersensitivity to inter-strand crosslinks (ICLs). FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs. While lesions different from ICLs can also trigg...

journal_title：PLoS genetics

authors： Federico MB,Vallerga MB,Radl A,Paviolo NS,Bocco JL,Di Giorgio M,Soria G,Gottifredi V

更新日期：2016-01-14 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：:The rate at which genomes adapt to environmental changes and the prevalence of adaptive processes in molecular evolution are two controversial issues in current evolutionary genetics. Previous attempts to quantify the genome-wide rate of adaptation through amino-acid substitution have revealed a surprising diversity o...

journal_title：PLoS genetics

authors： Galtier N

更新日期：2016-01-11 00:00:00

abstract：:The genome of the fission yeast Schizosaccharomyces pombe encodes 17 kinases that are essential for cell growth. These include the cell-cycle regulator Cdc2, as well as several kinases that coordinate cell growth, polarity, and morphogenesis during the cell cycle. In this study, we further characterized another of the...

journal_title：PLoS genetics

authors： Eckert D,Andrée N,Razanau A,Zock-Emmenthal S,Lützelberger M,Plath S,Schmidt H,Guerra-Moreno A,Cozzuto L,Ayté J,Käufer NF

更新日期：2016-01-05 00:00:00

abstract：:The Eukaryotic RecA-like proteins Rad51 and Dmc1 cooperate during meiosis to promote recombination between homologous chromosomes by repairing programmed DNA double strand breaks (DSBs). Previous studies showed that Rad51 and Dmc1 form partially overlapping co-foci. Here we show these Rad51-Dmc1 co-foci are often arra...

journal_title：PLoS genetics

authors： Brown MS,Grubb J,Zhang A,Rust MJ,Bishop DK

更新日期：2015-12-31 00:00:00

abstract：:Aging in Caenorhabditis elegans is characterized by widespread physiological and molecular changes, but the mechanisms that determine the rate at which these changes occur are not well understood. In this study, we identify a novel link between reproductive aging and somatic aging in C. elegans. By measuring global ag...

journal_title：PLoS genetics

authors： Zimmerman SM,Hinkson IV,Elias JE,Kim SK

更新日期：2015-12-11 00:00:00

abstract：:Global climate change, increasingly erratic weather and a burgeoning global population are significant threats to the sustainability of future crop production. There is an urgent need for the development of robust measures that enable crops to withstand the uncertainty of climate change whilst still producing maximum ...

journal_title：PLoS genetics

authors： Williams B,Njaci I,Moghaddam L,Long H,Dickman MB,Zhang X,Mundree S

更新日期：2015-12-03 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：: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：:Ubiquitination of the replication clamp proliferating cell nuclear antigen (PCNA) at the conserved residue lysine (K)164 triggers postreplicative repair (PRR) to fill single-stranded gaps that result from stalled DNA polymerases. However, it has remained elusive as to whether cells engage PRR in response to replicatio...

journal_title：PLoS genetics

authors： Becker JR,Pons C,Nguyen HD,Costanzo M,Boone C,Myers CL,Bielinsky AK

更新日期：2015-11-06 00:00:00

abstract：:Evolution of gene regulation is crucial for our understanding of the phenotypic differences between species, populations and individuals. Sequence-specific binding of transcription factors to the regulatory regions on the DNA is a key regulatory mechanism that determines gene expression and hence heritable phenotypic ...

journal_title：PLoS genetics

authors： Tuğrul M,Paixão T,Barton NH,Tkačik G

更新日期：2015-11-06 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:Many diseases are differentially distributed among human populations. Differential selection on genetic variants in ancestral environments that coincidentally predispose to disease can be an underlying cause of these unequal prevalence patterns. Selected genes may be pleiotropic, affecting multiple phenotypes and resu...

journal_title：PLoS genetics

authors： Russell SB,Smith JC,Huang M,Trupin JS,Williams SM

更新日期：2015-11-05 00:00:00

abstract：:Mitotic and cytokinetic processes harness cell machinery to drive chromosomal segregation and the physical separation of dividing cells. Here, we investigate the functional requirements for exocyst complex function during cell division in vivo, and demonstrate a common mechanism that directs anaphase cell elongation a...

journal_title：PLoS genetics

authors： Giansanti MG,Vanderleest TE,Jewett CE,Sechi S,Frappaolo A,Fabian L,Robinett CC,Brill JA,Loerke D,Fuller MT,Blankenship JT

更新日期：2015-11-03 00:00:00

abstract：:Rhizobial infection of legume root hairs requires a rearrangement of the actin cytoskeleton to enable the establishment of plant-made infection structures called infection threads. In the SCAR/WAVE (Suppressor of cAMP receptor defect/WASP family verpolin homologous protein) actin regulatory complex, the conserved N-te...

journal_title：PLoS genetics

authors： Qiu L,Lin JS,Xu J,Sato S,Parniske M,Wang TL,Downie JA,Xie F

更新日期：2015-10-30 00:00:00

abstract：:The human nuclear poly(A)-binding protein PABPN1 has been implicated in the decay of nuclear noncoding RNAs (ncRNAs). In addition, PABPN1 promotes hyperadenylation by stimulating poly(A)-polymerases (PAPα/γ), but this activity has not previously been linked to the decay of endogenous transcripts. Moreover, the mechani...

journal_title：PLoS genetics

authors： Bresson SM,Hunter OV,Hunter AC,Conrad NK

更新日期：2015-10-20 00:00:00

abstract：:In oocytes, where centrosomes are absent, the chromosomes direct the assembly of a bipolar spindle. Interactions between chromosomes and microtubules are essential for both spindle formation and chromosome segregation, but the nature and function of these interactions is not clear. We have examined oocytes lacking two...

journal_title：PLoS genetics

authors： Radford SJ,Hoang TL,Głuszek AA,Ohkura H,McKim KS

更新日期：2015-10-16 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：:New systems genetics approaches are needed to rapidly identify host genes and genetic networks that regulate complex disease outcomes. Using genetically diverse animals from incipient lines of the Collaborative Cross mouse panel, we demonstrate a greatly expanded range of phenotypes relative to classical mouse models ...

journal_title：PLoS genetics

authors： Gralinski LE,Ferris MT,Aylor DL,Whitmore AC,Green R,Frieman MB,Deming D,Menachery VD,Miller DR,Buus RJ,Bell TA,Churchill GA,Threadgill DW,Katze MG,McMillan L,Valdar W,Heise MT,Pardo-Manuel de Villena F,Baric RS

更新日期：2015-10-09 00:00:00

abstract：:Ribosomes are the highly complex macromolecular assemblies dedicated to the synthesis of all cellular proteins from mRNA templates. The main principles underlying the making of ribosomes are conserved across eukaryotic organisms and this process has been studied in most detail in the yeast Saccharomyces cerevisiae. Ye...

journal_title：PLoS genetics

authors： Pillet B,García-Gómez JJ,Pausch P,Falquet L,Bange G,de la Cruz J,Kressler D

更新日期：2015-10-08 00:00:00

abstract：:Three closely related thermally dimorphic pathogens are causal agents of major fungal diseases affecting humans in the Americas: blastomycosis, histoplasmosis and paracoccidioidomycosis. Here we report the genome sequence and analysis of four strains of the etiological agent of blastomycosis, Blastomyces, and two spec...

journal_title：PLoS genetics

authors： Muñoz JF,Gauthier GM,Desjardins CA,Gallo JE,Holder J,Sullivan TD,Marty AJ,Carmen JC,Chen Z,Ding L,Gujja S,Magrini V,Misas E,Mitreva M,Priest M,Saif S,Whiston EA,Young S,Zeng Q,Goldman WE,Mardis ER,Taylor JW,Mc

更新日期：2015-10-06 00:00:00

abstract：:Little is known about contacts in the spliceosome between proteins and intron nucleotides surrounding the pre-mRNA branch-site and their dynamics during splicing. We investigated protein-pre-mRNA interactions by UV-induced crosslinking of purified yeast B(act) spliceosomes formed on site-specifically labeled pre-mRNA,...

journal_title：PLoS genetics

authors： Schneider C,Agafonov DE,Schmitzová J,Hartmuth K,Fabrizio P,Lührmann R

更新日期：2015-09-22 00:00:00

abstract：:Formation of elaborately branched dendrites is necessary for the proper input and connectivity of many sensory neurons. Previous studies have revealed that dendritic growth relies heavily on ER-to-Golgi transport, Golgi outposts and endocytic recycling. How new membrane and associated cargo is delivered from the secre...

journal_title：PLoS genetics

authors： Zou W,Yadav S,DeVault L,Nung Jan Y,Sherwood DR

更新日期：2015-09-22 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 00:00:00

abstract：:Understanding how axon guidance receptors are activated by their extracellular ligands to regulate growth cone motility is critical to learning how proper wiring is established during development. Roundabout (Robo) is one such guidance receptor that mediates repulsion from its ligand Slit in both invertebrates and ver...

journal_title：PLoS genetics

authors： Chance RK,Bashaw GJ

更新日期：2015-09-03 00:00:00

abstract：:During development, proper differentiation and final organ size rely on the control of territorial specification and cell proliferation. Although many regulators of these processes have been identified, how both are coordinated remains largely unknown. The homeodomain Iroquois/Irx proteins play a key, evolutionarily c...

journal_title：PLoS genetics

authors： Barrios N,González-Pérez E,Hernández R,Campuzano S

更新日期：2015-08-25 00:00:00

abstract：:In order to study the role played by cellular RNA pools produced by homologous genomic loci in defining the transcriptional state of a silenced gene, we tested the effect of non-functional alleles of the white gene in the presence of a functional copy of white, silenced by heterochromatin. We found that non-functional...

journal_title：PLoS genetics

authors： Onorati MC,Arancio W,Cavalieri V,Ingrassia AM,Pavesi G,Corona DF

更新日期：2015-08-20 00:00:00

abstract：:The Drosophila genes spalt major (salm) and spalt-related (salr) encode Zn-finger transcription factors regulated by the Decapentaplegic (Dpp) signalling pathway in the wing imaginal disc. The function of these genes is required for cell survival and proliferation in the central region of the wing disc, and also for v...

journal_title：PLoS genetics

authors： Organista MF,Martín M,de Celis JM,Barrio R,López-Varea A,Esteban N,Casado M,de Celis JF

更新日期：2015-08-04 00:00:00

abstract：:The intra-S phase checkpoint kinase of metazoa and yeast, ATR/MEC1, protects chromosomes from DNA damage and replication stress by phosphorylating subunits of the replicative helicase, MCM2-7. Here we describe an unprecedented ATR-dependent pathway in Tetrahymena thermophila in which the essential pre-replicative comp...

journal_title：PLoS genetics

authors： Sandoval PY,Lee PH,Meng X,Kapler GM

更新日期：2015-07-28 00:00:00

abstract：:The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a...

journal_title：PLoS genetics

authors： Kishimoto T,Ying BW,Tsuru S,Iijima L,Suzuki S,Hashimoto T,Oyake A,Kobayashi H,Someya Y,Narisawa D,Yomo T

更新日期：2015-07-15 00:00:00

abstract：:Respiratory infectious diseases are the third cause of worldwide death. The nasopharynx is the portal of entry and the ecological niche of many microorganisms, of which some are pathogenic to humans, such as Neisseria meningitidis and Moraxella catarrhalis. These microbes possess several surface structures that intera...

journal_title：PLoS genetics

authors： Veyrier FJ,Biais N,Morales P,Belkacem N,Guilhen C,Ranjeva S,Sismeiro O,Péhau-Arnaudet G,Rocha EP,Werts C,Taha MK,Boneca IG

更新日期：2015-07-10 00:00:00