High-resolution mapping of expression-QTLs yields insight into human gene regulation.

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：:Drosophila melanogaster head development represents a valuable process to study the developmental control of various organs, such as the antennae, the dorsal ocelli and the compound eyes from a common precursor, the eye-antennal imaginal disc. While the gene regulatory network underlying compound eye development has b...

journal_title：PLoS genetics

authors： Torres-Oliva M,Schneider J,Wiegleb G,Kaufholz F,Posnien N

更新日期：2018-01-23 00:00:00

abstract：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 00:00:00

abstract：:Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleo...

journal_title：PLoS genetics

authors： Orr N,Cooke R,Jones M,Fletcher O,Dudbridge F,Chilcott-Burns S,Tomczyk K,Broderick P,Houlston R,Ashworth A,Swerdlow A

更新日期：2011-09-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1005038.]. ...

journal_title：PLoS genetics

authors： Wen D,Rivera-Perez C,Abdou M,Jia Q,He Q,Liu X,Zyaan O,Xu J,Bendena WG,Tobe SS,Noriega FG,Palli SR,Wang J,Li S

更新日期：2017-01-20 00:00:00

abstract：:Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause re...

journal_title：PLoS genetics

authors： Cabral WA,Perdivara I,Weis M,Terajima M,Blissett AR,Chang W,Perosky JE,Makareeva EN,Mertz EL,Leikin S,Tomer KB,Kozloff KM,Eyre DR,Yamauchi M,Marini JC

更新日期：2014-06-26 00:00:00

abstract：:Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying these neurological symptoms are unknown. To better understand how mutations of the underlying gene (NF1) drive behavioral ...

journal_title：PLoS genetics

authors： King LB,Boto T,Botero V,Aviles AM,Jomsky BM,Joseph C,Walker JA,Tomchik SM

更新日期：2020-07-22 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 Rhox cluster on the mouse X chromosome contains reproduction-related homeobox genes expressed in a sexually dimorphic manner. We report that two members of the Rhox cluster, Rhox6 and 9, are regulated by de-methylation of histone H3 at lysine 27 by KDM6A, a histone demethylase with female-biased expression. Consis...

journal_title：PLoS genetics

authors： Berletch JB,Deng X,Nguyen DK,Disteche CM

更新日期：2013-05-01 00:00:00

abstract：:Mutational fitness effects can be measured with relatively high accuracy in viruses due to their small genome size, which facilitates full-length sequencing and genetic manipulation. Previous work has shown that animal and plant RNA viruses are very sensitive to mutation. Here, we characterize mutational fitness effec...

journal_title：PLoS genetics

authors： Domingo-Calap P,Cuevas JM,Sanjuán R

更新日期：2009-11-01 00:00:00

abstract：:Molybdenum (Mo) is an essential micronutrient for plants, serving as a cofactor for enzymes involved in nitrate assimilation, sulfite detoxification, abscisic acid biosynthesis, and purine degradation. Here we show that natural variation in shoot Mo content across 92 Arabidopsis thaliana accessions is controlled by va...

journal_title：PLoS genetics

authors： Baxter I,Muthukumar B,Park HC,Buchner P,Lahner B,Danku J,Zhao K,Lee J,Hawkesford MJ,Guerinot ML,Salt DE

更新日期：2008-02-29 00:00:00

abstract：:The cell envelope of Gram-negative bacteria is a formidable barrier that is difficult for antimicrobial drugs to penetrate. Thus, the list of treatments effective against these organisms is small and with the rise of new resistance mechanisms is shrinking rapidly. New therapies to treat Gram-negative bacterial infecti...

journal_title：PLoS genetics

authors： Paradis-Bleau C,Kritikos G,Orlova K,Typas A,Bernhardt TG

更新日期：2014-01-01 00:00:00

abstract：:In non-motile fungi, sexual reproduction relies on strong morphogenetic changes in response to pheromone signaling. We report here on a systematic screen for morphological abnormalities of the mating process in fission yeast Schizosaccharomyces pombe. We derived a homothallic (self-fertile) collection of viable deleti...

journal_title：PLoS genetics

authors： Dudin O,Merlini L,Bendezú FO,Groux R,Vincenzetti V,Martin SG

更新日期：2017-04-14 00:00:00

abstract：:The length of cilia is controlled by a poorly understood mechanism that involves members of the conserved RCK kinase group, and among them, the LF4/MOK kinases. The multiciliated protist model, Tetrahymena, carries two types of cilia (oral and locomotory) and the length of the locomotory cilia is dependent on their po...

journal_title：PLoS genetics

authors： Jiang YY,Maier W,Baumeister R,Minevich G,Joachimiak E,Wloga D,Ruan Z,Kannan N,Bocarro S,Bahraini A,Vasudevan KK,Lechtreck K,Orias E,Gaertig J

更新日期：2019-07-24 00:00:00

abstract：:During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate ...

journal_title：PLoS genetics

authors： Natarajan C,Jendroszek A,Kumar A,Weber RE,Tame JRH,Fago A,Storz JF

更新日期：2018-04-02 00:00:00

abstract：:Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-translational modificati...

journal_title：PLoS genetics

authors： Reimand J,Wagih O,Bader GD

更新日期：2015-01-22 00:00:00

abstract：:Exome sequencing has been widely used in detecting pathogenic nonsynonymous single nucleotide variants (SNVs) for human inherited diseases. However, traditional statistical genetics methods are ineffective in analyzing exome sequencing data, due to such facts as the large number of sequenced variants, the presence of ...

journal_title：PLoS genetics

authors： Wu J,Li Y,Jiang R

更新日期：2014-03-20 00:00:00

abstract：:Genetic variants in genome-wide association studies (GWAS) are tested for disease association mostly using simple regression, one variant at a time. Standard approaches to improve power in detecting disease-associated SNPs use multiple regression with Bayesian variable selection in which a sparsity-enforcing prior on ...

journal_title：PLoS genetics

authors： Banerjee S,Zeng L,Schunkert H,Söding J

更新日期：2018-12-31 00:00:00

abstract：:Elongator complex is required for formation of the side chains at position 5 of modified nucleosides 5-carbamoylmethyluridine (ncm⁵U₃₄), 5-methoxycarbonylmethyluridine (mcm⁵U₃₄), and 5-methoxycarbonylmethyl-2-thiouridine (mcm⁵s²U₃₄) at wobble position in tRNA. These modified nucleosides are important for efficient dec...

journal_title：PLoS genetics

authors： Chen C,Huang B,Eliasson M,Rydén P,Byström AS

更新日期：2011-09-01 00:00:00

abstract：:Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct...

journal_title：PLoS genetics

authors： Nielsen SV,Stein A,Dinitzen AB,Papaleo E,Tatham MH,Poulsen EG,Kassem MM,Rasmussen LJ,Lindorff-Larsen K,Hartmann-Petersen R

更新日期：2017-04-19 00:00:00

abstract：:Bromodomain proteins are key regulators of gene expression. How the levels of these factors are regulated in specific environmental conditions is unknown. Previous work has established that expression of yeast Bromodomain factor 2 (BDF2) is limited by spliceosome-mediated decay (SMD). Here we show that BDF2 is subject...

journal_title：PLoS genetics

authors： Roy K,Chanfreau G

更新日期：2014-09-18 00:00:00

abstract：:It is now widely recognized that robustness is an inherent property of biological systems [1],[2],[3]. The contribution of close sequence homologs to genetic robustness against null mutations has been previously demonstrated in simple organisms [4],[5]. In this paper we investigate in detail the contribution of gene d...

journal_title：PLoS genetics

authors： Hsiao TL,Vitkup D

更新日期：2008-03-14 00:00:00

abstract：:Histone posttranslational modifications (HPTMs) are involved in chromatin-based regulation of fungal secondary metabolite biosynthesis (SMB) in which the corresponding genes-usually physically linked in co-regulated clusters-are silenced under optimal physiological conditions (nutrient-rich) but are activated when nut...

journal_title：PLoS genetics

authors： Gacek-Matthews A,Berger H,Sasaki T,Wittstein K,Gruber C,Lewis ZA,Strauss J

更新日期：2016-08-22 00:00:00

abstract：:For many genes, proper gene expression requires coordinated and dynamic interactions between multiple regulatory elements, each of which can either promote or silence transcription. In Drosophila, the complexity of the regulatory landscape is further complicated by the tight physical pairing of homologous chromosomes,...

journal_title：PLoS genetics

authors： Tian K,Henderson RE,Parker R,Brown A,Johnson JE,Bateman JR

更新日期：2019-05-10 00:00:00

abstract：:The Caenorhabditis elegans left and right AWC olfactory neurons communicate to establish stochastic asymmetric identities, AWC(ON) and AWC(OFF), by inhibiting a calcium-mediated signaling pathway in the future AWC(ON) cell. NSY-4/claudin-like protein and NSY-5/innexin gap junction protein are the two parallel signals ...

journal_title：PLoS genetics

authors： Hsieh YW,Chang C,Chuang CF

更新日期：2012-01-01 00:00:00

abstract：:Regulated nuclear entry of clock proteins is a conserved feature of eukaryotic circadian clocks and serves to separate the phase of mRNA activation from mRNA repression in the molecular feedback loop. In Drosophila, nuclear entry of the clock proteins, PERIOD (PER) and TIMELESS (TIM), is tightly controlled, and impair...

journal_title：PLoS genetics

authors： Jang AR,Moravcevic K,Saez L,Young MW,Sehgal A

更新日期：2015-02-12 00:00:00

abstract：:Over the past four decades, the predominant view of molecular evolution saw little connection between natural selection and genome evolution, assuming that the functionally constrained fraction of the genome is relatively small and that adaptation is sufficiently infrequent to play little role in shaping patterns of v...

journal_title：PLoS genetics

authors： Sella G,Petrov DA,Przeworski M,Andolfatto P

更新日期：2009-06-01 00:00:00

abstract：:Although a considerable proportion of serum lipids loci identified in European ancestry individuals (EA) replicate in African Americans (AA), interethnic differences in the distribution of serum lipids suggest that some genetic determinants differ by ethnicity. We conducted a comprehensive evaluation of five lipid can...

journal_title：PLoS genetics

authors： Bentley AR,Chen G,Shriner D,Doumatey AP,Zhou J,Huang H,Mullikin JC,Blakesley RW,Hansen NF,Bouffard GG,Cherukuri PF,Maskeri B,Young AC,Adeyemo A,Rotimi CN

更新日期：2014-03-06 00:00:00

abstract：:The evolutionary divergence of mitochondrial ribosomes from their bacterial and cytoplasmic ancestors has resulted in reduced RNA content and the acquisition of mitochondria-specific proteins. The mitochondrial ribosomal protein of the small subunit 34 (MRPS34) is a mitochondria-specific ribosomal protein found only i...

journal_title：PLoS genetics

authors： Richman TR,Ermer JA,Davies SM,Perks KL,Viola HM,Shearwood AM,Hool LC,Rackham O,Filipovska A

更新日期：2015-03-27 00:00:00

abstract：:The metabolic capabilities and regulatory networks of bacteria have been optimized by evolution in response to selective pressures present in each species' native ecological niche. In a new environment, however, the same bacteria may grow poorly due to regulatory constraints or biochemical deficiencies. Adaptation to ...

journal_title：PLoS genetics

authors： Hottes AK,Freddolino PL,Khare A,Donnell ZN,Liu JC,Tavazoie S

更新日期：2013-01-01 00:00:00