Inference of Candidate Germline Mutator Loci in Humans from Genome-Wide Haplotype Data.

abstract：:DNA sequence polymorphism in a regulatory protein can have a widespread transcriptional effect. Here we present a computational approach for analyzing modules of genes with a common regulation that are affected by specific DNA polymorphisms. We identify such regulatory-linkage modules by integrating genotypic and expr...

journal_title：PLoS genetics

authors： Gat-Viks I,Meller R,Kupiec M,Shamir R

更新日期：2010-01-01 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In mos...

journal_title：PLoS genetics

authors： González-Vioque E,Torres-Torronteras J,Andreu AL,Martí R

更新日期：2011-03-01 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：: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：: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：:Marine viruses play a critical role not only in the global geochemical cycles but also in the biology and evolution of their hosts. Despite their importance, viral diversity remains underexplored mostly due to sampling and cultivation challenges. Direct sequencing approaches such as viromics has provided new insights ...

journal_title：PLoS genetics

authors： López-Pérez M,Haro-Moreno JM,Gonzalez-Serrano R,Parras-Moltó M,Rodriguez-Valera F

更新日期：2017-09-25 00:00:00

abstract：:Plant resistance (R) proteins provide a robust surveillance system to defend against potential pathogens. Despite their importance in plant innate immunity, relatively few of the approximately 170 R proteins in Arabidopsis have well-characterized resistance specificity. In order to identify the R protein responsible f...

journal_title：PLoS genetics

authors： Lewis JD,Wu R,Guttman DS,Desveaux D

更新日期：2010-04-01 00:00:00

abstract：:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We an...

journal_title：PLoS genetics

authors： Kiando SR,Tucker NR,Castro-Vega LJ,Katz A,D'Escamard V,Tréard C,Fraher D,Albuisson J,Kadian-Dodov D,Ye Z,Austin E,Yang ML,Hunker K,Barlassina C,Cusi D,Galan P,Empana JP,Jouven X,Gimenez-Roqueplo AP,Bruneval P,Hyun

更新日期：2016-10-28 00:00:00

abstract：:Ubiquitination of the replication clamp proliferating cell nuclear antigen (PCNA) at the conserved residue lysine (K)164 triggers postreplicative repair (PRR) to fill single-stranded gaps that result from stalled DNA polymerases. However, it has remained elusive as to whether cells engage PRR in response to replicatio...

journal_title：PLoS genetics

authors： Becker JR,Pons C,Nguyen HD,Costanzo M,Boone C,Myers CL,Bielinsky AK

更新日期：2015-11-06 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：:Double strand breaks (DSBs) and interstrand crosslinks (ICLs) are toxic DNA lesions that can be repaired through multiple pathways, some of which involve shared proteins. One of these proteins, DNA Polymerase θ (Pol θ), coordinates a mutagenic DSB repair pathway named microhomology-mediated end joining (MMEJ) and is a...

journal_title：PLoS genetics

authors： Beagan K,Armstrong RL,Witsell A,Roy U,Renedo N,Baker AE,Schärer OD,McVey M

更新日期：2017-05-25 00:00:00

abstract：:Domesticated Asian rice (Oryza sativa) is one of the oldest domesticated crop species in the world, having fed more people than any other plant in human history. We report the patterns of DNA sequence variation in rice and its wild ancestor, O. rufipogon, across 111 randomly chosen gene fragments, and use these to inf...

journal_title：PLoS genetics

authors： Caicedo AL,Williamson SH,Hernandez RD,Boyko A,Fledel-Alon A,York TL,Polato NR,Olsen KM,Nielsen R,McCouch SR,Bustamante CD,Purugganan MD

更新日期：2007-09-01 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：:Epigenetic gene silencing plays a critical role in regulating gene expression and contributes to organismal development and cell fate acquisition in eukaryotes. In fission yeast, Schizosaccharomyces pombe, heterochromatin-associated gene silencing is known to be mediated by RNA processing pathways including RNA interf...

journal_title：PLoS genetics

authors： Tucker JF,Ohle C,Schermann G,Bendrin K,Zhang W,Fischer T,Zhang K

更新日期：2016-02-18 00:00:00

abstract：:Anaplasma phagocytophilum is an emerging pathogen that causes human granulocytic anaplasmosis. Infection with this zoonotic pathogen affects cell function in both vertebrate host and the tick vector, Ixodes scapularis. Global tissue-specific response and apoptosis signaling pathways were characterized in I. scapularis...

journal_title：PLoS genetics

authors： Ayllón N,Villar M,Galindo RC,Kocan KM,Šíma R,López JA,Vázquez J,Alberdi P,Cabezas-Cruz A,Kopáček P,de la Fuente J

更新日期：2015-03-27 00:00:00

abstract：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 00:00:00

abstract：:N-methyl-D-aspartate receptors (NMDARs), ligand-gated ionotropic glutamate receptors, play key roles in normal brain development and various neurological disorders. Here we use standing variation data from the human population to assess which protein domains within NMDAR GluN1, GluN2A and GluN2B subunits show the stro...

journal_title：PLoS genetics

authors： Ogden KK,Chen W,Swanger SA,McDaniel MJ,Fan LZ,Hu C,Tankovic A,Kusumoto H,Kosobucki GJ,Schulien AJ,Su Z,Pecha J,Bhattacharya S,Petrovski S,Cohen AE,Aizenman E,Traynelis SF,Yuan H

更新日期：2017-01-17 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：:Genetical genomics is a strategy for mapping gene expression variation to expression quantitative trait loci (eQTLs). We performed a genetical genomics experiment in four functionally distinct but developmentally closely related hematopoietic cell populations isolated from the BXD panel of recombinant inbred mouse str...

journal_title：PLoS genetics

authors： Gerrits A,Li Y,Tesson BM,Bystrykh LV,Weersing E,Ausema A,Dontje B,Wang X,Breitling R,Jansen RC,de Haan G

更新日期：2009-10-01 00:00:00

abstract：:Caenorhabditis elegans SKN-1 (ortholog of mammalian Nrf1/2/3) is critical for oxidative stress resistance and promotes longevity under reduced insulin/IGF-1-like signaling (IIS), dietary restriction (DR), and normal conditions. SKN-1 inducibly activates genes involved in detoxification, protein homeostasis, and other ...

journal_title：PLoS genetics

authors： Wang J,Robida-Stubbs S,Tullet JM,Rual JF,Vidal M,Blackwell TK

更新日期：2010-08-05 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified over 40 loci that affect risk of coronary artery disease (CAD) and the causal mechanisms at the majority of loci are unknown. Recent studies have suggested that many causal GWAS variants influence disease through altered transcriptional regulation in disease-relev...

journal_title：PLoS genetics

authors： Reschen ME,Gaulton KJ,Lin D,Soilleux EJ,Morris AJ,Smyth SS,O'Callaghan CA

更新日期：2015-04-02 00:00:00

abstract：:Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the class 1 RF family: RF1Lmt/mtRF1a, RF1mt, C12orf65 and ICT1. The homolog of the essential ICT1 factor is widely distributed in bacteria and organelles and has the peculiar feature in human mi...

journal_title：PLoS genetics

authors： Akabane S,Ueda T,Nierhaus KH,Takeuchi N

更新日期：2014-09-18 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006940.]. ...

journal_title：PLoS genetics

authors： Nakanishi M,Nomura J,Ji X,Tamada K,Arai T,Takahashi E,Bućan M,Takumi T

更新日期：2017-10-03 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：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 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：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 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：:Cdc6p is an essential component of the pre-replicative complex (pre-RC), which binds to DNA replication origins to promote initiation of DNA replication. Only once per cell cycle does DNA replication take place. After initiation, the pre-RC components are disassembled in order to prevent re-replication. It has been sh...

journal_title：PLoS genetics

authors： Ikui AE,Rossio V,Schroeder L,Yoshida S

更新日期：2012-01-01 00:00:00

abstract：:Gene conversion, the non-reciprocal exchange of genetic information, is one of the potential products of meiotic recombination. It can shape genome structure by acting on repetitive DNA elements, influence allele frequencies at the population level, and is known to be implicated in human disease. But gene conversion i...

journal_title：PLoS genetics

authors： Sun Y,Ambrose JH,Haughey BS,Webster TD,Pierrie SN,Muñoz DF,Wellman EC,Cherian S,Lewis SM,Berchowitz LE,Copenhaver GP

更新日期：2012-01-01 00:00:00