Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

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：:Signaling pathways enable cells to sense and respond to their environment. Many cellular signaling strategies are conserved from fungi to humans, yet their activity and phenotypic consequences can vary extensively among individuals within a species. A systematic assessment of the impact of naturally occurring genetic ...

journal_title：PLoS genetics

authors： Treusch S,Albert FW,Bloom JS,Kotenko IE,Kruglyak L

更新日期：2015-01-08 00:00:00

abstract：:Studies of synthetic, well-defined biomolecular systems can elucidate inherent capabilities that may be difficult to uncover in a native biological context. Here, we used a minimal, reconstituted translation system from Escherichia coli to identify efficient ribosome binding sites (RBSs) in an unbiased, high-throughpu...

journal_title：PLoS genetics

authors： Barendt PA,Shah NA,Barendt GA,Sarkar CA

更新日期：2012-01-01 00:00:00

abstract：:Most of the somatic cells of adult metazoans, including mammals, do not undergo continuous cycles of replication. Instead, they are quiescent and devote most of their metabolic activity to gene expression. The mutagenic consequences of exposure to DNA-damaging agents are well documented, but less is known about the im...

journal_title：PLoS genetics

authors： Brégeon D,Peignon PA,Sarasin A

更新日期：2009-07-01 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：:Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the domin...

journal_title：PLoS genetics

authors： Dorshorst B,Molin AM,Rubin CJ,Johansson AM,Strömstedt L,Pham MH,Chen CF,Hallböök F,Ashwell C,Andersson L

更新日期：2011-12-01 00:00:00

abstract：:The Structural Maintenance of Chromosome (SMC) complex, termed cohesin, is essential for sister chromatid cohesion. Cohesin is also important for chromosome condensation, DNA repair, and gene expression. Cohesin is comprised of Scc3, Mcd1, Smc1, and Smc3. Scc3 also binds Pds5 and Wpl1, cohesin-associated proteins that...

journal_title：PLoS genetics

authors： Orgil O,Matityahu A,Eng T,Guacci V,Koshland D,Onn I

更新日期：2015-03-06 00:00:00

abstract：:The origin and evolution of new microRNAs (miRNAs) is important because they can impact the transcriptome broadly. As miRNAs can potentially emerge constantly and rapidly, their rates of birth and evolution have been extensively debated. However, most new miRNAs identified appear not to be biologically significant. Af...

journal_title：PLoS genetics

authors： Lyu Y,Shen Y,Li H,Chen Y,Guo L,Zhao Y,Hungate E,Shi S,Wu CI,Tang T

更新日期：2014-01-01 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：:A robust, bistable switch regulates the fluctuations between wakefulness and natural sleep as well as those between wakefulness and anesthetic-induced unresponsiveness. We previously provided experimental evidence for the existence of a behavioral barrier to transitions between these states of arousal, which we call n...

journal_title：PLoS genetics

authors： Joiner WJ,Friedman EB,Hung HT,Koh K,Sowcik M,Sehgal A,Kelz MB

更新日期：2013-01-01 00:00:00

abstract：:Maintaining levels of calcium in the cytosol is important for many cellular events, including cell migration, where localized regions of high calcium are required to regulate cytoskeletal dynamics, contractility, and adhesion. Studies show inositol-trisphosphate receptors (IP3R) and ryanodine receptors (RyR), which re...

journal_title：PLoS genetics

authors： Praitis V,Simske J,Kniss S,Mandt R,Imlay L,Feddersen C,Miller MB,Mushi J,Liszewski W,Weinstein R,Chakravorty A,Ha DG,Schacht Farrell A,Sullivan-Wilson A,Stock T

更新日期：2013-05-01 00:00:00

abstract：:Prostate cancer incidence is increasing in younger men. We investigated whether men diagnosed with Gleason 7 (3+4) T2 prostate cancer at younger ages (≤ 45 years, young cohort) had different mRNA and miRNA expression profiles than men diagnosed at older ages (71-74 years, older cohort). We identified differentially ex...

journal_title：PLoS genetics

authors： Ding Y,Wu H,Warden C,Steele L,Liu X,Iterson MV,Wu X,Nelson R,Liu Z,Yuan YC,Neuhausen SL

更新日期：2016-12-27 00:00:00

abstract：:Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted out...

journal_title：PLoS genetics

authors： Thouvenot P,Ben Yamin B,Fourrière L,Lescure A,Boudier T,Del Nery E,Chauchereau A,Goldgar DE,Houdayer C,Stoppa-Lyonnet D,Nicolas A,Millot GA

更新日期：2016-06-06 00:00:00

abstract：:The conserved protein kinase Sch9 is a central player in the nutrient-induced signaling network in yeast, although only few of its direct substrates are known. We now provide evidence that Sch9 controls the vacuolar proton pump (V-ATPase) to maintain cellular pH homeostasis and ageing. A synthetic sick phenotype arise...

journal_title：PLoS genetics

authors： Wilms T,Swinnen E,Eskes E,Dolz-Edo L,Uwineza A,Van Essche R,Rosseels J,Zabrocki P,Cameroni E,Franssens V,De Virgilio C,Smits GJ,Winderickx J

更新日期：2017-06-12 00:00:00

abstract：:DNA methylation is an ancient molecular modification found in most eukaryotes. In plants, DNA methylation is not only critical for transcriptionally silencing transposons, but can also affect phenotype by altering expression of protein coding genes. The extent of its contribution to phenotypic diversity over evolution...

journal_title：PLoS genetics

authors： Seymour DK,Koenig D,Hagmann J,Becker C,Weigel D

更新日期：2014-11-13 00:00:00

abstract：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 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：:Obesity is defined by excessive lipid accumulation. However, the active mechanistic roles that lipids play in its progression are not understood. Accumulation of ceramide, the metabolic hub of sphingolipid metabolism, has been associated with metabolic syndrome and obesity in humans and model systems. Here, we use Dro...

journal_title：PLoS genetics

authors： Walls SM Jr,Attle SJ,Brulte GB,Walls ML,Finley KD,Chatfield DA,Herr DR,Harris GL

更新日期：2013-01-01 00:00:00

abstract：:Knowledge of the functional cis-regulatory elements that regulate constitutive and alternative pre-mRNA splicing is fundamental for biology and medicine. Here we undertook a genome-wide comparative genomics approach using available mammalian genomes to identify conserved intronic splicing regulatory elements (ISREs). ...

journal_title：PLoS genetics

authors： Yeo GW,Van Nostrand EL,Liang TY

更新日期：2007-05-25 00:00:00

abstract：:Mating and gametogenesis are two essential components of animal reproduction. Gametogenesis must be modulated by the need for gametes, yet little is known of how mating, a process that utilizes gametes, may modulate the process of gametogenesis. Here, we report that mating stimulates female germline stem cell (GSC) pr...

journal_title：PLoS genetics

authors： Ameku T,Niwa R

更新日期：2016-06-16 00:00:00

abstract：:A variety of human diseases arise from mutations that alter muscle contraction. Evolutionary conservation allows genetic studies in Drosophila melanogaster to be used to better understand these myopathies and suggest novel therapeutic strategies. Integrin-mediated adhesion is required to support muscle structure and f...

journal_title：PLoS genetics

authors： Pronovost SM,Beckerle MC,Kadrmas JL

更新日期：2013-03-01 00:00:00

abstract：:Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D ...

journal_title：PLoS genetics

authors： Shaffer JR,Orlova E,Lee MK,Leslie EJ,Raffensperger ZD,Heike CL,Cunningham ML,Hecht JT,Kau CH,Nidey NL,Moreno LM,Wehby GL,Murray JC,Laurie CA,Laurie CC,Cole J,Ferrara T,Santorico S,Klein O,Mio W,Feingold E,Hallgr

更新日期：2016-08-25 00:00:00

abstract：:In Drosophila, 50 classes of olfactory receptor neurons (ORNs) connect to 50 class-specific and uniquely positioned glomeruli in the antennal lobe. Despite the identification of cell surface receptors regulating axon guidance, how ORN axons sort to form 50 stereotypical glomeruli remains unclear. Here we show that the...

journal_title：PLoS genetics

authors： Barish S,Nuss S,Strunilin I,Bao S,Mukherjee S,Jones CD,Volkan PC

更新日期：2018-08-13 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：: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：:In Saccharomyces cerevisiae, the conserved phosphatase Cdc14 is required for the exit from mitosis. It is anchored on nucleolar chromatin by the Cfi1/Net1 protein until early anaphase, at which time it is released into the nucleoplasm. Two poorly understood, redundant pathways promote Cdc14 release, the FEAR (Cdc four...

journal_title：PLoS genetics

authors： Hwang WW,Madhani HD

更新日期：2009-08-01 00:00:00

abstract：:Hematopoietic stem cells (HSCs) are rare quiescent cells that continuously replenish the cellular components of the peripheral blood. Observing that the ataxia-associated gene Ataxin-1-like (Atxn1L) was highly expressed in HSCs, we examined its role in HSC function through in vitro and in vivo assays. Mice lacking Atx...

journal_title：PLoS genetics

authors： Kahle JJ,Souroullas GP,Yu P,Zohren F,Lee Y,Shaw CA,Zoghbi HY,Goodell MA

更新日期：2013-03-01 00:00:00

abstract：:Class-switch recombination (CSR), induced by activation-induced cytidine deaminase (AID), can be divided into two phases: DNA cleavage of the switch (S) regions and the joining of the cleaved ends of the different S regions. Here, we show that the DSIF complex (Spt4 and Spt5), a transcription elongation factor, is req...

journal_title：PLoS genetics

authors： Stanlie A,Begum NA,Akiyama H,Honjo T

更新日期：2012-01-01 00:00:00

abstract：:Adaptive radiation is the rapid origination of multiple species from a single ancestor as the result of concurrent adaptation to disparate environments. This fundamental evolutionary process is considered to be responsible for the genesis of a great portion of the diversity of life. Bacteria have evolved enormous biol...

journal_title：PLoS genetics

authors： Engel P,Salzburger W,Liesch M,Chang CC,Maruyama S,Lanz C,Calteau A,Lajus A,Médigue C,Schuster SC,Dehio C

更新日期：2011-02-10 00:00:00

abstract：:In response to stress and injury a coordinated activation of conserved signalling modules, such as JNK and JAK/STAT, is critical to trigger regenerative tissue restoration. While these pathways rebuild homeostasis and promote faithful organ recovery, it is intriguing that they also become activated in various tumour c...

journal_title：PLoS genetics

authors： Beira JV,Torres J,Paro R

更新日期：2018-01-22 00:00:00