Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

abstract：:In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...

journal_title：PLoS genetics

authors： Marchant TW,Dietschi E,Rytz U,Schawalder P,Jagannathan V,Hadji Rasouliha S,Gurtner C,Waldvogel AS,Harrington RS,Drögemüller M,Kidd J,Ostrander EA,Warr A,Watson M,Argyle D,Ter Haar G,Clements DN,Leeb T,Schoenebeck JJ

更新日期：2019-05-16 00:00:00

abstract：:Mitochondria have been increasingly recognized as a central regulatory nexus for multiple metabolic pathways, in addition to ATP production via oxidative phosphorylation (OXPHOS). Here we show that inducing mitochondrial DNA (mtDNA) stress in Drosophila using a mitochondrially-targeted Type I restriction endonuclease ...

journal_title：PLoS genetics

authors： Bahhir D,Yalgin C,Ots L,Järvinen S,George J,Naudí A,Krama T,Krams I,Tamm M,Andjelković A,Dufour E,González de Cózar JM,Gerards M,Parhiala M,Pamplona R,Jacobs HT,Jõers P

更新日期：2019-10-04 00:00:00

abstract：:Mammalian genomes harbor a larger than expected number of complex loci, in which multiple genes are coupled by shared transcribed regions in antisense orientation and/or by bidirectional core promoters. To determine the incidence, functional significance, and evolutionary context of mammalian complex loci, we identifi...

journal_title：PLoS genetics

authors： Engström PG,Suzuki H,Ninomiya N,Akalin A,Sessa L,Lavorgna G,Brozzi A,Luzi L,Tan SL,Yang L,Kunarso G,Ng EL,Batalov S,Wahlestedt C,Kai C,Kawai J,Carninci P,Hayashizaki Y,Wells C,Bajic VB,Orlando V,Reid JF,Lenhar

更新日期：2006-04-01 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：:Innate immunity in Caenorhabditis elegans requires a conserved PMK-1 p38 mitogen-activated protein kinase (MAPK) pathway that regulates the basal and pathogen-induced expression of immune effectors. The mechanisms by which PMK-1 p38 MAPK regulates the transcriptional activation of the C. elegans immune response have n...

journal_title：PLoS genetics

authors： Shivers RP,Pagano DJ,Kooistra T,Richardson CE,Reddy KC,Whitney JK,Kamanzi O,Matsumoto K,Hisamoto N,Kim DH

更新日期：2010-04-01 00:00:00

abstract：:Over half of all proteins are glycosylated, and alterations in glycosylation have been observed in numerous physiological and pathological processes. Attached glycans significantly affect protein function; but, contrary to polypeptides, they are not directly encoded by genes, and the complex processes that regulate th...

journal_title：PLoS genetics

authors： Lauc G,Essafi A,Huffman JE,Hayward C,Knežević A,Kattla JJ,Polašek O,Gornik O,Vitart V,Abrahams JL,Pučić M,Novokmet M,Redžić I,Campbell S,Wild SH,Borovečki F,Wang W,Kolčić I,Zgaga L,Gyllensten U,Wilson JF,Wright

更新日期：2010-12-23 00:00:00

abstract：:Chromatin assembly mutants accumulate recombinogenic DNA damage and are sensitive to genotoxic agents. Here we have analyzed why impairment of the H3K56 acetylation-dependent CAF1 and Rtt106 chromatin assembly pathways, which have redundant roles in H3/H4 deposition during DNA replication, leads to genetic instability...

journal_title：PLoS genetics

authors： Clemente-Ruiz M,González-Prieto R,Prado F

更新日期：2011-11-01 00:00:00

abstract：:During transcription, the nascent pre-mRNA undergoes a series of processing steps before being exported to the cytoplasm. The 3'-end processing machinery involves different proteins, this function being crucial to cell growth and viability in eukaryotes. Here, we found that the rna14-1, rna15-1, and hrp1-5 alleles of ...

journal_title：PLoS genetics

authors： Gaillard H,Aguilera A

更新日期：2014-03-06 00:00:00

abstract：:In a previous study, we showed that centromere repositioning, that is the shift along the chromosome of the centromeric function without DNA sequence rearrangement, has occurred frequently during the evolution of the genus Equus. In this work, the analysis of the chromosomal distribution of satellite tandem repeats in...

journal_title：PLoS genetics

authors： Piras FM,Nergadze SG,Magnani E,Bertoni L,Attolini C,Khoriauli L,Raimondi E,Giulotto E

更新日期：2010-02-12 00:00:00

abstract：:DNA methyltransferases are ubiquitous enzymes conserved in bacteria, plants and opisthokonta. These enzymes, which methylate cytosines, are involved in numerous biological processes, notably development. In mammals and higher plants, methylation patterns established and maintained by the cytosine DNA methyltransferase...

journal_title：PLoS genetics

authors： Grognet P,Timpano H,Carlier F,Aït-Benkhali J,Berteaux-Lecellier V,Debuchy R,Bidard F,Malagnac F

更新日期：2019-08-14 00:00:00

abstract：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 00:00:00

abstract：:Using data from primates, we show that molecular clocks in sites that have been part of a CpG dinucleotide in recent past (CpG sites) and non-CpG sites are of markedly different nature, reflecting differences in their molecular origins. Notably, single nucleotide substitutions at non-CpG sites show clear generation-ti...

journal_title：PLoS genetics

authors： Kim SH,Elango N,Warden C,Vigoda E,Yi SV

更新日期：2006-10-06 00:00:00

abstract：:With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction...

journal_title：PLoS genetics

authors： Sirota M,Schaub MA,Batzoglou S,Robinson WH,Butte AJ

更新日期：2009-12-01 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：:The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

journal_title：PLoS genetics

authors： Seoighe C,Scally A

更新日期：2017-01-17 00:00:00

abstract：:Two-component signaling systems (TCS) regulate bacterial responses to environmental signals through the process of protein phosphorylation. Specifically, sensor histidine kinases (SK) recognize signals and propagate the response via phosphorylation of a cognate response regulator (RR) that functions to initiate transc...

journal_title：PLoS genetics

authors： Bretl DJ,Ladd KM,Atkinson SN,Müller S,Kirby JR

更新日期：2018-10-22 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：:Promoters are structurally and functionally diverse gene regulatory regions. The presence or absence of sequence motifs and the spacing between the motifs defines the properties of promoters. Recent alternative promoter usage analyses in Drosophila melanogaster revealed that transposable elements significantly contrib...

journal_title：PLoS genetics

authors： Merenciano M,Ullastres A,de Cara MA,Barrón MG,González J

更新日期：2016-08-12 00:00:00

abstract：:Magnesium is an essential divalent metal that serves many cellular functions. While most divalent cations are maintained at relatively low intracellular concentrations, magnesium is maintained at a higher level (∼0.5-2.0 mM). Three families of transport proteins were previously identified for magnesium import: CorA, M...

journal_title：PLoS genetics

authors： Shin JH,Wakeman CA,Goodson JR,Rodionov DA,Freedman BG,Senger RS,Winkler WC

更新日期：2014-06-26 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic trai...

journal_title：PLoS genetics

authors： Service SK,Teslovich TM,Fuchsberger C,Ramensky V,Yajnik P,Koboldt DC,Larson DE,Zhang Q,Lin L,Welch R,Ding L,McLellan MD,O'Laughlin M,Fronick C,Fulton LL,Magrini V,Swift A,Elliott P,Jarvelin MR,Kaakinen M,McCarthy

更新日期：2014-01-30 00:00:00

abstract：:Using small molecule probes to understand gene function is an attractive approach that allows functional characterization of genes that are dispensable in standard laboratory conditions and provides insight into the mode of action of these compounds. Using chemogenomic assays we previously identified yeast Crg1, an un...

journal_title：PLoS genetics

authors： Lissina E,Young B,Urbanus ML,Guan XL,Lowenson J,Hoon S,Baryshnikova A,Riezman I,Michaut M,Riezman H,Cowen LE,Wenk MR,Clarke SG,Giaever G,Nislow C

更新日期：2011-10-01 00:00:00

abstract：:Tripartite Motif (TRIM) ubiquitin ligases act in the innate immune response against viruses. One of the best characterized members of this family, TRIM5α, serves as a potent retroviral restriction factor with activity against HIV. Here, we characterize what are likely to be the youngest TRIM genes in the human genome....

journal_title：PLoS genetics

authors： Han K,Lou DI,Sawyer SL

更新日期：2011-12-01 00:00:00

abstract：:Spatial arrangement of neurite branching is instructed by both attractive and repulsive cues. Here we show that in C. elegans, the Wnt family of secreted glycoproteins specify neurite branching sites in the PLM mechanosensory neurons. Wnts function through MIG-1/Frizzled and the planar cell polarity protein (PCP) VANG...

journal_title：PLoS genetics

authors： Chen CH,He CW,Liao CP,Pan CL

更新日期：2017-04-06 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is an autoimmune disease with known genetic, epigenetic, and environmental risk factors. To assess the role of DNA methylation in SLE, we collected CD4+ T-cells, CD19+ B-cells, and CD14+ monocytes from 49 SLE patients and 58 controls, and performed genome-wide DNA methylation analysi...

journal_title：PLoS genetics

authors： Absher DM,Li X,Waite LL,Gibson A,Roberts K,Edberg J,Chatham WW,Kimberly RP

更新日期：2013-01-01 00:00:00

abstract：:Genomic instability is a hallmark of human cancer cells. To prevent genomic instability, chromosomal DNA is faithfully duplicated in every cell division cycle, and eukaryotic cells have complex regulatory mechanisms to achieve this goal. Here, we show that untimely activation of replication origins during the G1 phase...

journal_title：PLoS genetics

authors： Tanaka S,Araki H

更新日期：2011-06-01 00:00:00

abstract：:We have taken an engineering approach to extending the lifespan of Caenorhabditis elegans. Aging stands out as a complex trait, because events that occur in old animals are not under strong natural selection. As a result, lifespan can be lengthened rationally using bioengineering to modulate gene expression or to add ...

journal_title：PLoS genetics

authors： Sagi D,Kim SK

更新日期：2012-01-01 00:00:00

abstract：:During nervous system development, neuronal cell bodies and their axodendritic projections are precisely positioned through transiently expressed patterning cues. We show here that two neuronally expressed, secreted immunoglobulin (Ig) domain-containing proteins, ZIG-5 and ZIG-8, have no detectable role during embryon...

journal_title：PLoS genetics

authors： Bénard CY,Blanchette C,Recio J,Hobert O

更新日期：2012-01-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1008320.]. ...

journal_title：PLoS genetics

authors： PLOS Genetics Staff.

更新日期：2019-12-19 00:00:00

abstract：:Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study...

journal_title：PLoS genetics

authors： Yang Q,Feng B,Zhang K,Guo YY,Liu SB,Wu YM,Li XQ,Zhao MG

更新日期：2012-01-01 00:00:00

abstract：:In multicellular organisms, tight regulation of gene expression ensures appropriate tissue and organismal growth throughout development. Reversible phosphorylation of the RNA Polymerase II (RNAPII) C-terminal domain (CTD) is critical for the regulation of gene expression states, but how phosphorylation is actively mod...

journal_title：PLoS genetics

authors： Ciurciu A,Duncalf L,Jonchere V,Lansdale N,Vasieva O,Glenday P,Rudenko A,Vissi E,Cobbe N,Alphey L,Bennett D

更新日期：2013-10-01 00:00:00