Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

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：:Sex-specific traits that lead to the production of dimorphic gametes, sperm in males and eggs in females, are fundamental for sexual reproduction and accordingly widespread among animals. Yet the sex-biased genes that underlie these sex-specific traits are under strong selective pressure, and as a result of adaptive e...

journal_title：PLoS genetics

authors： Shah C,Vangompel MJ,Naeem V,Chen Y,Lee T,Angeloni N,Wang Y,Xu EY

更新日期：2010-07-15 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 ribonuclease III enzyme Drosha has a central role in the biogenesis of microRNA (miRNA) by binding and cleaving hairpin structures in primary RNA transcripts into precursor miRNAs (pre-miRNAs). Many miRNA genes are located within protein-coding host genes and cleaved by Drosha in a manner that is coincident with s...

journal_title：PLoS genetics

authors： Havens MA,Reich AA,Hastings ML

更新日期：2014-05-01 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：:Nutrient stresses trigger a variety of developmental switches in the budding yeast Saccharomyces cerevisiae. One of the least understood of such responses is the development of complex colony morphology, characterized by intricate, organized, and strain-specific patterns of colony growth and architecture. The genetic ...

journal_title：PLoS genetics

authors： Granek JA,Magwene PM

更新日期：2010-01-22 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：:A relatively unexplored nexus in Drosophila Immune deficiency (IMD) pathway is TGF-beta Activating Kinase 1 (TAK1), which triggers both immunity and apoptosis. In a cell culture screen, we identified that Lysine at position 142 was a K63-linked Ubiquitin acceptor site for TAK1, required for signalling. Moreover, Lysin...

journal_title：PLoS genetics

authors： Fernando MD,Kounatidis I,Ligoxygakis P

更新日期：2014-02-20 00:00:00

abstract：:Race, specifically African ancestry, and obesity are important risk factors for uterine fibroids, and likely interact to provide the right conditions for fibroid growth. However, existing studies largely focus on the main-effects rather than their interaction. Here, we firstly provide evidence for interaction between ...

journal_title：PLoS genetics

authors： Giri A,Edwards TL,Hartmann KE,Torstenson ES,Wellons M,Schreiner PJ,Velez Edwards DR

更新日期：2017-07-17 00:00:00

abstract：:Pre-mRNAs are often processed in complex patterns in tissue-specific manners to produce a variety of protein isoforms from single genes. However, mechanisms orchestrating the processing of the entire transcript are not well understood. Muscle-specific alternative pre-mRNA processing of the unc-60 gene in Caenorhabditi...

journal_title：PLoS genetics

authors： Ohno G,Ono K,Togo M,Watanabe Y,Ono S,Hagiwara M,Kuroyanagi H

更新日期：2012-01-01 00:00:00

abstract：:Cytosine methylation is an ancient epigenetic modification yet its function and extent within genomes is highly variable across eukaryotes. In mammals, methylation controls transposable elements and regulates the promoters of genes. In insects, DNA methylation is generally restricted to a small subset of transcribed g...

journal_title：PLoS genetics

authors： Lewis SH,Ross L,Bain SA,Pahita E,Smith SA,Cordaux R,Miska EA,Lenhard B,Jiggins FM,Sarkies P

更新日期：2020-06-25 00:00:00

abstract：:Human genome-wide association studies have linked single nucleotide polymorphisms (SNPs) on chromosome 9p21.3 near the INK4/ARF (CDKN2a/b) locus with susceptibility to atherosclerotic vascular disease (ASVD). Although this locus encodes three well-characterized tumor suppressors, p16(INK4a), p15(INK4b), and ARF, the S...

journal_title：PLoS genetics

authors： Burd CE,Jeck WR,Liu Y,Sanoff HK,Wang Z,Sharpless NE

更新日期：2010-12-02 00:00:00

abstract：:The number of recombination events per meiosis varies extensively among individuals. This recombination phenotype differs between female and male, and also among individuals of each gender. In this study, we used high-density SNP genotypes of over 2,300 individuals and their offspring in two datasets to characterize r...

journal_title：PLoS genetics

authors： Chowdhury R,Bois PR,Feingold E,Sherman SL,Cheung VG

更新日期：2009-09-01 00:00:00

abstract：:Light is one of the most important environmental cues regulating multiple aspects of plant growth and development, and abscisic acid (ABA) is a plant hormone that plays important roles during many phases of the plant life cycle and in plants' responses to various environmental stresses. How plants integrate the extern...

journal_title：PLoS genetics

authors： Xu D,Li J,Gangappa SN,Hettiarachchi C,Lin F,Andersson MX,Jiang Y,Deng XW,Holm M

更新日期：2014-02-27 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：:As miRNAs are associated with normal cellular processes, deregulation of miRNAs is thought to play a causative role in many complex diseases. Nevertheless, the precise contribution of miRNAs in fibrotic lung diseases, especially the idiopathic form (IPF), remains poorly understood. Given the poor response rate of IPF ...

journal_title：PLoS genetics

authors： Lino Cardenas CL,Henaoui IS,Courcot E,Roderburg C,Cauffiez C,Aubert S,Copin MC,Wallaert B,Glowacki F,Dewaeles E,Milosevic J,Maurizio J,Tedrow J,Marcet B,Lo-Guidice JM,Kaminski N,Barbry P,Luedde T,Perrais M,Mari B,

更新日期：2013-01-01 00:00:00

abstract：:Among the rare colonizers of heavy-metal rich toxic soils, Arabidopsis halleri is a compelling model extremophile, physiologically distinct from its sister species A. lyrata, and A. thaliana. Naturally selected metal hypertolerance and extraordinarily high leaf metal accumulation in A. halleri both require Heavy Metal...

journal_title：PLoS genetics

authors： Hanikenne M,Kroymann J,Trampczynska A,Bernal M,Motte P,Clemens S,Krämer U

更新日期：2013-01-01 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：:NURF is a conserved higher eukaryotic ISWI-containing chromatin remodeling complex that catalyzes ATP-dependent nucleosome sliding. By sliding nucleosomes, NURF is able to alter chromatin dynamics to control transcription and genome organization. Previous biochemical and genetic analysis of the specificity-subunit of ...

journal_title：PLoS genetics

authors： Kwon SY,Grisan V,Jang B,Herbert J,Badenhorst P

更新日期：2016-04-05 00:00:00

abstract：:Cellular toxicity introduced by protein misfolding threatens cell fitness and viability. Failure to eliminate these polypeptides is associated with various aggregation diseases. In eukaryotes, the ubiquitin proteasome system (UPS) plays a vital role in protein quality control (PQC), by selectively targeting misfolded ...

journal_title：PLoS genetics

authors： Peters LZ,Karmon O,David-Kadoch G,Hazan R,Yu T,Glickman MH,Ben-Aroya S

更新日期：2015-04-28 00:00:00

abstract：:Hypercholesterolemia is a causal and modifiable risk factor for atherosclerotic cardiovascular disease. A critical pathway regulating cholesterol homeostasis involves the receptor-mediated endocytosis of low-density lipoproteins into hepatocytes, mediated by the LDL receptor. We applied genome-scale CRISPR screening t...

journal_title：PLoS genetics

authors： Emmer BT,Sherman EJ,Lascuna PJ,Graham SE,Willer CJ,Ginsburg D

更新日期：2021-01-29 00:00:00

abstract：:Genome reduction has been observed in many bacterial lineages that have adapted to specialized environments. The extreme genome degradation seen for obligate pathogens and symbionts appears to be dominated by genetic drift. In contrast, for free-living organisms with reduced genomes, the dominant force is proposed to ...

journal_title：PLoS genetics

authors： Lee MC,Marx CJ

更新日期：2012-01-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 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：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 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：:Understanding the molecular basis for phenotypic differences between humans and other primates remains an outstanding challenge. Mutations in non-coding regulatory DNA that alter gene expression have been hypothesized as a key driver of these phenotypic differences. This has been supported by differential gene express...

journal_title：PLoS genetics

authors： Shibata Y,Sheffield NC,Fedrigo O,Babbitt CC,Wortham M,Tewari AK,London D,Song L,Lee BK,Iyer VR,Parker SC,Margulies EH,Wray GA,Furey TS,Crawford GE

更新日期：2012-06-01 00:00:00

abstract：:Mimulus guttatus and M. nasutus are an evolutionary and ecological model sister species pair differentiated by ecology, mating system, and partial reproductive isolation. Despite extensive research on this system, the history of divergence and differentiation in this sister pair is unclear. We present and analyze a po...

journal_title：PLoS genetics

authors： Brandvain Y,Kenney AM,Flagel L,Coop G,Sweigart AL

更新日期：2014-06-26 00:00:00

abstract：:It is known that genetic variants can affect gene expression, but it is not yet completely clear through what mechanisms genetic variation mediate this expression. We therefore compared the cis-effect of single nucleotide polymorphisms (SNPs) on gene expression between blood samples from 1,240 human subjects and four ...

journal_title：PLoS genetics

authors： Fu J,Wolfs MG,Deelen P,Westra HJ,Fehrmann RS,Te Meerman GJ,Buurman WA,Rensen SS,Groen HJ,Weersma RK,van den Berg LH,Veldink J,Ophoff RA,Snieder H,van Heel D,Jansen RC,Hofker MH,Wijmenga C,Franke L

更新日期：2012-01-01 00:00:00

abstract：:The Rif1 protein is a negative regulator of DNA replication initiation in eukaryotes. Here we show that budding yeast Rif1 inhibits DNA replication initiation at the rDNA locus. Absence of Rif1, or disruption of its interaction with PP1/Glc7 phosphatase, leads to more intensive rDNA replication. The effect of Rif1-Glc...

journal_title：PLoS genetics

authors： Shyian M,Mattarocci S,Albert B,Hafner L,Lezaja A,Costanzo M,Boone C,Shore D

更新日期：2016-11-07 00:00:00