Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1008367.]. ...

journal_title：PLoS genetics

authors： Baker RL,Leong WF,Brock MT,Rubin MJ,Markelz RJC,Welch S,Maloof JN,Weinig C

更新日期：2020-10-08 00:00:00

abstract：:Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a po...

journal_title：PLoS genetics

authors： Simsek D,Brunet E,Wong SY,Katyal S,Gao Y,McKinnon PJ,Lou J,Zhang L,Li J,Rebar EJ,Gregory PD,Holmes MC,Jasin M

更新日期：2011-06-01 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00

abstract：:L1 retrotransposons have a prominent role in reshaping mammalian genomes. To replicate, the L1 ribonucleoprotein particle (RNP) first uses its endonuclease (EN) to nick the genomic DNA. The newly generated DNA end is subsequently used as a primer to initiate reverse transcription within the L1 RNA poly(A) tail, a proc...

journal_title：PLoS genetics

authors： Monot C,Kuciak M,Viollet S,Mir AA,Gabus C,Darlix JL,Cristofari G

更新日期：2013-05-01 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：: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：: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：:Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk syncytial layer (YSL) to move lipids from yolk to growing tissues. Disruptions in B-lp produ...

journal_title：PLoS genetics

authors： Wilson MH,Rajan S,Danoff A,White RJ,Hensley MR,Quinlivan VH,Recacha R,Thierer JH,Tan FJ,Busch-Nentwich EM,Ruddock L,Hussain MM,Farber SA

更新日期：2020-08-06 00:00:00

abstract：:Long interspersed nuclear element-1s (LINE-1s, or L1s) are an active family of retrotransposable elements that continue to mutate mammalian genomes. Despite the large contribution of L1 to mammalian genome evolution, we do not know where active L1 particles (particles in the process of retrotransposition) are located ...

journal_title：PLoS genetics

authors： Horn AV,Celic I,Dong C,Martirosyan I,Han JS

更新日期：2017-06-06 00:00:00

abstract：:The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using ...

journal_title：PLoS genetics

authors： Gaudet MM,Kirchhoff T,Green T,Vijai J,Korn JM,Guiducci C,Segrè AV,McGee K,McGuffog L,Kartsonaki C,Morrison J,Healey S,Sinilnikova OM,Stoppa-Lyonnet D,Mazoyer S,Gauthier-Villars M,Sobol H,Longy M,Frenay M,GEMO Study

更新日期：2010-10-28 00:00:00

abstract：:While the molecular mechanisms of glucocorticoid regulation of transcription have been studied in detail, the global networks regulated by the glucocorticoid receptor (GR) remain unknown. To address this question, we performed an orthogonal analysis to identify direct targets of the GR. First, we analyzed the expressi...

journal_title：PLoS genetics

authors： Phuc Le P,Friedman JR,Schug J,Brestelli JE,Parker JB,Bochkis IM,Kaestner KH

更新日期：2005-08-01 00:00:00

abstract：:During organogenesis, PAX6 is required for establishment of various progenitor subtypes within the central nervous system, eye and pancreas. PAX6 expression is maintained in a variety of cell types within each organ, although its role in each lineage and how it acquires cell-specific activity remain elusive. Herein, w...

journal_title：PLoS genetics

authors： Raviv S,Bharti K,Rencus-Lazar S,Cohen-Tayar Y,Schyr R,Evantal N,Meshorer E,Zilberberg A,Idelson M,Reubinoff B,Grebe R,Rosin-Arbesfeld R,Lauderdale J,Lutty G,Arnheiter H,Ashery-Padan R

更新日期：2014-05-29 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：:Across phylogeny, glutamate (Glu) signaling plays a critical role in regulating neural excitability, thus supporting many complex behaviors. Perturbed synaptic and extrasynaptic Glu homeostasis in the human brain has been implicated in multiple neuropsychiatric and neurodegenerative disorders including Parkinson's dis...

journal_title：PLoS genetics

authors： Gibson CL,Balbona JT,Niedzwiecki A,Rodriguez P,Nguyen KCQ,Hall DH,Blakely RD

更新日期：2018-03-28 00:00:00

abstract：:We have developed a powerful experimental framework that combines competitive selection and microarray-based genetic footprinting to comprehensively reveal the genetic basis of bacterial behaviors. Application of this method to Escherichia coli motility identifies 95% of the known flagellar and chemotaxis genes, and r...

journal_title：PLoS genetics

authors： Girgis HS,Liu Y,Ryu WS,Tavazoie S

更新日期：2007-09-01 00:00:00

abstract：:Formation of elaborately branched dendrites is necessary for the proper input and connectivity of many sensory neurons. Previous studies have revealed that dendritic growth relies heavily on ER-to-Golgi transport, Golgi outposts and endocytic recycling. How new membrane and associated cargo is delivered from the secre...

journal_title：PLoS genetics

authors： Zou W,Yadav S,DeVault L,Nung Jan Y,Sherwood DR

更新日期：2015-09-22 00:00:00

abstract：:Evolutionary rescue occurs when a population that is threatened with extinction by an environmental change adapts to the change sufficiently rapidly to survive. Here we extend the mathematical theory of evolutionary rescue. In particular, we model evolutionary rescue to a sudden environmental change when adaptation in...

journal_title：PLoS genetics

authors： Orr HA,Unckless RL

更新日期：2014-08-14 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：:The evolution of insecticide resistance is a global constraint to agricultural production. Spinosad is a new, low-environmental-risk insecticide that primarily targets nicotinic acetylcholine receptors (nAChR) and is effective against a wide range of pest species. However, after only a few years of application, field ...

journal_title：PLoS genetics

authors： Baxter SW,Chen M,Dawson A,Zhao JZ,Vogel H,Shelton AM,Heckel DG,Jiggins CD

更新日期：2010-01-01 00:00:00

abstract：:Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...

journal_title：PLoS genetics

authors： Jin S,Lee YK,Lim YC,Zheng Z,Lin XM,Ng DP,Holbrook JD,Law HY,Kwek KY,Yeo GS,Ding C

更新日期：2013-06-01 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：:Metabolic homeostasis in metazoans is regulated by endocrine control of insulin/IGF signaling (IIS) activity. Stress and inflammatory signaling pathways--such as Jun-N-terminal Kinase (JNK) signaling--repress IIS, curtailing anabolic processes to promote stress tolerance and extend lifespan. While this interaction con...

journal_title：PLoS genetics

authors： Hull-Thompson J,Muffat J,Sanchez D,Walker DW,Benzer S,Ganfornina MD,Jasper H

更新日期：2009-04-01 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Gene regulatory information guides development and shapes the course of evolution. To test conservation of gene regulation within the phylum Nematoda, we compared the functions of putative cis-regulatory sequences of four sets of orthologs (unc-47, unc-25, mec-3 and elt-2) from distantly-related nematode species. Thes...

journal_title：PLoS genetics

authors： Gordon KL,Arthur RK,Ruvinsky I

更新日期：2015-05-28 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：:Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome...

journal_title：PLoS genetics

authors： Jagannathan V,Bannoehr J,Plattet P,Hauswirth R,Drögemüller C,Drögemüller M,Wiener DJ,Doherr M,Owczarek-Lipska M,Galichet A,Welle MM,Tengvall K,Bergvall K,Lohi H,Rüfenacht S,Linek M,Paradis M,Müller EJ,Roosje P,Leeb

更新日期：2013-01-01 00:00:00

abstract：:Cellulolytic fungi have evolved a complex regulatory network to maintain the precise balance of nutrients required for growth and hydrolytic enzyme production. When fungi are exposed to cellulose, the transcript levels of cellulase genes rapidly increase and then decline. However, the mechanisms underlying this bell-s...

journal_title：PLoS genetics

authors： Lin L,Wang S,Li X,He Q,Benz JP,Tian C

更新日期：2019-11-25 00:00:00

abstract：:At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...

journal_title：PLoS genetics

authors： Baker EP,Hittinger CT

更新日期：2019-04-04 00:00:00

abstract：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 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