Widespread presence of human BOULE homologs among animals and conservation of their ancient reproductive function.

abstract：:Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity. A fundamental unanswered question is how splicing factors achieve specificity in the selection of target substrates despite the recognition o...

journal_title：PLoS genetics

authors： Dembowski JA,Grabowski PJ

更新日期：2009-08-01 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：: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：:Microtubule-microfilament interactions are important for cytokinesis and subcellular localization of proteins and mRNAs. In the early zebrafish embryo, astral microtubule-microfilament interactions also facilitate a stereotypic segregation pattern of germ plasm ribonucleoparticles (GP RNPs), which is critical for thei...

journal_title：PLoS genetics

authors： Nair S,Marlow F,Abrams E,Kapp L,Mullins MC,Pelegri F

更新日期：2013-04-01 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：:Mutations in the human LMNA gene cause muscular dystrophy by mechanisms that are incompletely understood. The LMNA gene encodes A-type lamins, intermediate filaments that form a network underlying the inner nuclear membrane, providing structural support for the nucleus and organizing the genome. To better understand t...

journal_title：PLoS genetics

authors： Dialynas G,Shrestha OK,Ponce JM,Zwerger M,Thiemann DA,Young GH,Moore SA,Yu L,Lammerding J,Wallrath LL

更新日期：2015-05-21 00:00:00

abstract：:The model plant species Arabidopsis thaliana is successful at colonizing land that has recently undergone human-mediated disturbance. To investigate the prehistoric spread of A. thaliana, we applied approximate Bayesian computation and explicit spatial modeling to 76 European accessions sequenced at 876 nuclear loci. ...

journal_title：PLoS genetics

authors： François O,Blum MG,Jakobsson M,Rosenberg NA

更新日期：2008-05-16 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：:DNA double-strand breaks (DSBs) are one of the most dangerous DNA lesions, since their erroneous repair by nonhomologous end-joining (NHEJ) can generate harmful chromosomal rearrangements. PolX DNA polymerases are well suited to extend DSB ends that cannot be directly ligated due to their particular ability to bind to...

journal_title：PLoS genetics

authors： Ruiz JF,Pardo B,Sastre-Moreno G,Aguilera A,Blanco L

更新日期：2013-01-01 00:00:00

abstract：:Steroid hormones act, through their respective nuclear receptors, to regulate target gene expression. Despite their critical role in development, physiology, and disease, however, it is still unclear how these systemic cues are refined into tissue-specific responses. We identified a mutation in the evolutionarily cons...

journal_title：PLoS genetics

authors： Ihry RJ,Sapiro AL,Bashirullah A

更新日期：2012-01-01 00:00:00

abstract：:In the enterobacterial species Escherichia coli and Salmonella enterica, expression of horizontally acquired genes with a higher than average AT content is repressed by the nucleoid-associated protein H-NS. A classical example of an H-NS-repressed locus is the bgl (aryl-beta,D-glucoside) operon of E. coli. This locus ...

journal_title：PLoS genetics

authors： Sankar TS,Neelakanta G,Sangal V,Plum G,Achtman M,Schnetz K

更新日期：2009-03-01 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：:Recent studies of the HapMap lymphoblastoid cell lines have identified large numbers of quantitative trait loci for gene expression (eQTLs). Reanalyzing these data using a novel Bayesian hierarchical model, we were able to create a surprisingly high-resolution map of the typical locations of sites that affect mRNA lev...

journal_title：PLoS genetics

authors： Veyrieras JB,Kudaravalli S,Kim SY,Dermitzakis ET,Gilad Y,Stephens M,Pritchard JK

更新日期：2008-10-01 00:00:00

abstract：:Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation,...

journal_title：PLoS genetics

authors： Esmaeeli-Nieh S,Fenckova M,Porter IM,Motazacker MM,Nijhof B,Castells-Nobau A,Asztalos Z,Weißmann R,Behjati F,Tzschach A,Felbor U,Scherthan H,Sayfati SM,Ropers HH,Kahrizi K,Najmabadi H,Swedlow JR,Schenck A,Kuss AW

更新日期：2016-05-11 00:00:00

abstract：:Topoisomerase 3α, a class I topoisomerase, consists of a TOPRIM domain, an active centre and a variable number of zinc-finger domains (ZFDs) at the C-terminus, in multicellular organisms. Whereas the functions of the TOPRIM domain and the active centre are known, the specific role of the ZFDs is still obscure. In cont...

journal_title：PLoS genetics

authors： Dorn A,Röhrig S,Papp K,Schröpfer S,Hartung F,Knoll A,Puchta H

更新日期：2018-09-17 00:00:00

abstract：:Nonreplicating type I uracil auxotrophic mutants of Toxoplasma gondii possess a potent ability to activate therapeutic immunity to established solid tumors by reversing immune suppression in the tumor microenvironment. Here we engineered targeted deletions of parasite secreted effector proteins using a genetically tra...

journal_title：PLoS genetics

authors： Fox BA,Sanders KL,Rommereim LM,Guevara RB,Bzik DJ

更新日期：2016-07-22 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：:The heterochromatin-enriched HP1 proteins play a critical role in regulation of transcription. These proteins contain two related domains known as the chromo- and the chromoshadow-domain. The chromo-domain binds histone H3 tails methylated on lysine 9. However, in vivo and in vitro experiments have shown that the affi...

journal_title：PLoS genetics

authors： Lavigne M,Eskeland R,Azebi S,Saint-André V,Jang SM,Batsché E,Fan HY,Kingston RE,Imhof A,Muchardt C

更新日期：2009-12-01 00:00:00

abstract：:Aversive learning and memories are crucial for animals to avoid previously encountered stressful stimuli and thereby increase their chance of survival. Neuropeptides are essential signaling molecules in the brain and are emerging as important modulators of learned behaviors, but their precise role is not well understo...

journal_title：PLoS genetics

authors： Peymen K,Watteyne J,Borghgraef C,Van Sinay E,Beets I,Schoofs L

更新日期：2019-02-19 00:00:00

abstract：:Filamentous fungi produce diverse secondary metabolites (SMs) essential to their ecology and adaptation. Although each SM is typically produced by only a handful of species, global SM production is governed by widely conserved transcriptional regulators in conjunction with other cellular processes, such as development...

journal_title：PLoS genetics

authors： Lind AL,Wisecaver JH,Smith TD,Feng X,Calvo AM,Rokas A

更新日期：2015-03-18 00:00:00

abstract：:Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an autosomal dominant disease characterized by potentially-blinding congenital optic nerve excavation and congenital kidney abnormalities. Many patients with PRS have mutations in the paired box transcription factor gene, PAX2. Although most mutatio...

journal_title：PLoS genetics

authors： Alur RP,Vijayasarathy C,Brown JD,Mehtani M,Onojafe IF,Sergeev YV,Boobalan E,Jones M,Tang K,Liu H,Xia CH,Gong X,Brooks BP

更新日期：2010-03-05 00:00:00

abstract：:Genomic regions that are unusually divergent between closely related species or racial groups can be particularly informative about the process of speciation or the operation of natural selection. The two sequenced genomes of cultivated Asian rice, Oryza sativa, reveal that at least 6% of the genomes are unusually div...

journal_title：PLoS genetics

authors： Tang T,Lu J,Huang J,He J,McCouch SR,Shen Y,Kai Z,Purugganan MD,Shi S,Wu CI

更新日期：2006-11-17 00:00:00

abstract：:The integration of expression profiling with linkage analysis has increasingly been used to identify genes underlying complex phenotypes. The effects of gender on the regulation of many physiological traits are well documented; however, "genetical genomic" analyses have not yet addressed the degree to which their conc...

journal_title：PLoS genetics

authors： Wang S,Yehya N,Schadt EE,Wang H,Drake TA,Lusis AJ

更新日期：2006-02-01 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：:Fpr1 (FK506-sensitive proline rotamase 1), a protein of the FKBP12 (FK506-binding protein 12 kDa) family in Saccharomyces cerevisiae, is a primary target for the immunosuppressive agents FK506 and rapamycin. Fpr1 inhibits calcineurin and TORC1 (target of rapamycin complex 1) when bound to FK506 and rapamycin, respecti...

journal_title：PLoS genetics

authors： Kasahara K,Nakayama R,Shiwa Y,Kanesaki Y,Ishige T,Yoshikawa H,Kokubo T

更新日期：2020-06-30 00:00:00

abstract：:Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively...

journal_title：PLoS genetics

authors： Hendrickx G,Borra VM,Steenackers E,Yorgan TA,Hermans C,Boudin E,Waterval JJ,Jansen IDC,Aydemir TB,Kamerling N,Behets GJ,Plumeyer C,D'Haese PC,Busse B,Everts V,Lammens M,Mortier G,Cousins RJ,Schinke T,Stokroos RJ,M

更新日期：2018-04-05 00:00:00

abstract：:Sexual development is a key evolutionary innovation of eukaryotes. In many species, mating involves interaction between compatible mating partners that can undergo cell and nuclear fusion and subsequent steps of development including meiosis. Mating compatibility in fungi is governed by the mating type (MAT) loci. In ...

journal_title：PLoS genetics

authors： Sun S,Coelho MA,Heitman J,Nowrousian M

更新日期：2019-09-06 00:00:00

abstract：:Ribosome assembly cofactors are widely conserved across all domains of life. One such group, the ribosome-associated GTPases (RA-GTPase), act as molecular switches to coordinate ribosome assembly. We previously identified the Staphylococcus aureus RA-GTPase Era as a target for the stringent response alarmone (p)ppGpp,...

journal_title：PLoS genetics

authors： Wood A,Irving SE,Bennison DJ,Corrigan RM

更新日期：2019-08-29 00:00:00

abstract：:Adipose tissue lipolysis occurs during the development of heart failure as a consequence of chronic adrenergic stimulation. However, the impact of enhanced adipose triacylglycerol hydrolysis mediated by adipose triglyceride lipase (ATGL) on cardiac function is unclear. To investigate the role of adipose tissue lipolys...

journal_title：PLoS genetics

authors： Salatzki J,Foryst-Ludwig A,Bentele K,Blumrich A,Smeir E,Ban Z,Brix S,Grune J,Beyhoff N,Klopfleisch R,Dunst S,Surma MA,Klose C,Rothe M,Heinzel FR,Krannich A,Kershaw EE,Beule D,Schulze PC,Marx N,Kintscher U

更新日期：2018-01-10 00:00:00

abstract：:We have exploited the high selectivity of the homing endonuclease I-PpoI for the X-linked Anopheles gambiae 28S ribosomal genes to selectively target X chromosome carrying spermatozoa. Our data demonstrated that in heterozygous males, the expression of I-PpoI in the testes induced a strong bias toward Y chromosome-car...

journal_title：PLoS genetics

authors： Windbichler N,Papathanos PA,Crisanti A

更新日期：2008-12-01 00:00:00