abstract：:Recent studies of the HapMap lymphoblastoid cell lines have identified large numbers of quantitative trait loci for gene expression (eQTLs). Reanalyzing these data using a novel Bayesian hierarchical model, we were able to create a surprisingly high-resolution map of the typical locations of sites that affect mRNA lev...

journal_title：PLoS genetics

authors： Veyrieras JB,Kudaravalli S,Kim SY,Dermitzakis ET,Gilad Y,Stephens M,Pritchard JK

更新日期：2008-10-01 00:00:00

abstract：:Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu. ...

journal_title：PLoS genetics

authors： Lev-Maor G,Ram O,Kim E,Sela N,Goren A,Levanon EY,Ast G

更新日期：2008-09-26 00:00:00

abstract：:In the last two decades, mitochondrial DNA (mtDNA) and the non-recombining portion of the Y chromosome (NRY) have been extensively used in order to measure the maternally and paternally inherited genetic structure of human populations, and to infer sex-specific demography and history. Most studies converge towards the...

journal_title：PLoS genetics

authors： Ségurel L,Martínez-Cruz B,Quintana-Murci L,Balaresque P,Georges M,Hegay T,Aldashev A,Nasyrova F,Jobling MA,Heyer E,Vitalis R

更新日期：2008-09-26 00:00:00

abstract：:DNA interstrand crosslinks (ICLs) are among the most toxic types of damage to a cell. For this reason, many ICL-inducing agents are effective therapeutic agents. For example, cisplatin and nitrogen mustards are used for treating cancer and psoralen plus UVA (PUVA) is useful for treating psoriasis. However, repair mech...

journal_title：PLoS genetics

authors： Wu Q,Vasquez KM

更新日期：2008-09-12 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00

abstract：:In budding yeast, intragenic histone modification is linked with transcriptional elongation through the conserved regulator Paf1C. To investigate Paf1C-related function in higher eukaryotes, we analyzed the effects of loss of Paf1C on histone H3 density and patterns of H3 methylated at K4, K27, and K36 in Arabidopsis ...

journal_title：PLoS genetics

authors： Oh S,Park S,van Nocker S

更新日期：2008-08-22 00:00:00

abstract：:Methylcytosine-binding proteins decipher the epigenetic information encoded by DNA methylation and provide a link between DNA methylation, modification of chromatin structure, and gene silencing. VARIANT IN METHYLATION 1 (VIM1) encodes an SRA (SET- and RING-associated) domain methylcytosine-binding protein in Arabidop...

journal_title：PLoS genetics

authors： Woo HR,Dittmer TA,Richards EJ

更新日期：2008-08-15 00:00:00

abstract：:Quality control (QC) is a critical step in large-scale studies of genetic variation. While, on average, high-throughput single nucleotide polymorphism (SNP) genotyping assays are now very accurate, the errors that remain tend to cluster into a small percentage of "problem" SNPs, which exhibit unusually high error rate...

journal_title：PLoS genetics

authors： Scheet P,Stephens M

更新日期：2008-08-01 00:00:00

abstract：:Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight into the dynamics of genome evolution, the genetic basis of differences between species, and the functions of individual genes. However, previous scans have been limited in power and accuracy owing to small numbers of available gen...

journal_title：PLoS genetics

authors： Kosiol C,Vinar T,da Fonseca RR,Hubisz MJ,Bustamante CD,Nielsen R,Siepel A

更新日期：2008-08-01 00:00:00

abstract：:The sterol regulatory element-binding protein (SREBP) family member SREBP1 is a critical transcriptional regulator of cholesterol and fatty acid metabolism and has been implicated in insulin resistance, diabetes, and other diet-related diseases. We globally identified the promoters occupied by SREBP1 and its binding p...

journal_title：PLoS genetics

authors： Reed BD,Charos AE,Szekely AM,Weissman SM,Snyder M

更新日期：2008-07-25 00:00:00

abstract：:People who begin daily smoking at an early age are at greater risk of long-term nicotine addiction. We tested the hypothesis that associations between nicotinic acetylcholine receptor (nAChR) genetic variants and nicotine dependence assessed in adulthood will be stronger among smokers who began daily nicotine exposure...

journal_title：PLoS genetics

authors： Weiss RB,Baker TB,Cannon DS,von Niederhausern A,Dunn DM,Matsunami N,Singh NA,Baird L,Coon H,McMahon WM,Piper ME,Fiore MC,Scholand MB,Connett JE,Kanner RE,Gahring LC,Rogers SW,Hoidal JR,Leppert MF

更新日期：2008-07-11 00:00:00

abstract：:Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disease with high penetrance, manifest by brain hemorrhages in young normotensive adults. In Iceland, this condition is caused by the L68Q mutation in the cystatin C gene, with contemporary carriers reaching an average age of only 30 years. Here...

journal_title：PLoS genetics

authors： Palsdottir A,Helgason A,Palsson S,Bjornsson HT,Bragason BT,Gretarsdottir S,Thorsteinsdottir U,Olafsson E,Stefansson K

更新日期：2008-06-20 00:00:00

abstract：:Selenium is an important trace element that occurs in proteins in the form of selenocysteine (Sec) and in tRNAs in the form of selenouridine. Recent large-scale metagenomics projects provide an opportunity for understanding global trends in trace element utilization. Herein, we characterized the selenoproteome of the ...

journal_title：PLoS genetics

authors： Zhang Y,Gladyshev VN

更新日期：2008-06-13 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region gen...

journal_title：PLoS genetics

authors： Taylor KE,Remmers EF,Lee AT,Ortmann WA,Plenge RM,Tian C,Chung SA,Nititham J,Hom G,Kao AH,Demirci FY,Kamboh MI,Petri M,Manzi S,Kastner DL,Seldin MF,Gregersen PK,Behrens TW,Criswell LA

更新日期：2008-05-30 00:00:00

abstract：:The model plant species Arabidopsis thaliana is successful at colonizing land that has recently undergone human-mediated disturbance. To investigate the prehistoric spread of A. thaliana, we applied approximate Bayesian computation and explicit spatial modeling to 76 European accessions sequenced at 876 nuclear loci. ...

journal_title：PLoS genetics

authors： François O,Blum MG,Jakobsson M,Rosenberg NA

更新日期：2008-05-16 00:00:00

abstract：:In Drosophila, dosage compensation augments X chromosome-linked transcription in males relative to females. This process is achieved by the Dosage Compensation Complex (DCC), which associates specifically with the male X chromosome. We previously found that the morphology of this chromosome is sensitive to the amounts...

journal_title：PLoS genetics

authors： Spierer A,Begeot F,Spierer P,Delattre M

更新日期：2008-05-02 00:00:00

abstract：:A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

journal_title：PLoS genetics

authors： Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

更新日期：2008-04-25 00:00:00

abstract：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00

abstract：:We have recently shown that hypomorphic Mre11 complex mouse mutants exhibit defects in the repair of meiotic double strand breaks (DSBs). This is associated with perturbation of synaptonemal complex morphogenesis, repair and regulation of crossover formation. To further assess the Mre11 complex's role in meiotic progr...

journal_title：PLoS genetics

authors： Adelman CA,Petrini JH

更新日期：2008-03-28 00:00:00

abstract：:Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon ...

journal_title：PLoS genetics

authors： Newman JC,Bailey AD,Fan HY,Pavelitz T,Weiner AM

更新日期：2008-03-21 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：: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：:Alternative splicing generates protein diversity and allows for post-transcriptional gene regulation. Estimates suggest that 10% of the genes in Caenorhabditis elegans undergo alternative splicing. We constructed a splicing-sensitive microarray to detect alternative splicing for 352 cassette exons and tested for chang...

journal_title：PLoS genetics

authors： Barberan-Soler S,Zahler AM

更新日期：2008-02-29 00:00:00

abstract：:One of the most powerful techniques for studying the function of a gene is to disrupt the expression of that gene using genetic engineering strategies such as targeted recombination or viral integration of gene trap cassettes. The tremendous utility of these tools was recognized this year with the awarding of the Nobe...

journal_title：PLoS genetics

authors： Osokine I,Hsu R,Loeb GB,McManus MT

更新日期：2008-02-01 00:00:00

abstract：:Successful reproduction is critical to pass genes to the next generation. Seminal proteins contribute to important reproductive processes that lead to fertilization in species ranging from insects to mammals. In Drosophila, the male's accessory gland is a source of seminal fluid proteins that affect the reproductive o...

journal_title：PLoS genetics

authors： Ram KR,Wolfner MF

更新日期：2007-12-01 00:00:00

abstract：:Comparison of whole genomes has revealed large and frequent changes in the size of gene families. These changes occur because of high rates of both gene gain (via duplication) and loss (via deletion or pseudogenization), as well as the evolution of entirely new genes. Here we use the genomes of 12 fully sequenced Dros...

journal_title：PLoS genetics

authors： Hahn MW,Han MV,Han SG

更新日期：2007-11-01 00:00:00

abstract：:The secondary structure of a pre-mRNA influences a number of processing steps including alternative splicing. Since most splicing regulatory proteins bind to single-stranded RNA, the sequestration of RNA into double strands could prevent their binding. Here, we analyzed the secondary structure context of experimentall...

journal_title：PLoS genetics

authors： Hiller M,Zhang Z,Backofen R,Stamm S

更新日期：2007-11-01 00:00:00

abstract：:Kidney function depends on the nephron, which comprises a blood filter, a tubule that is subdivided into functionally distinct segments, and a collecting duct. How these regions arise during development is poorly understood. The zebrafish pronephros consists of two linear nephrons that develop from the intermediate me...

journal_title：PLoS genetics

authors： Wingert RA,Selleck R,Yu J,Song HD,Chen Z,Song A,Zhou Y,Thisse B,Thisse C,McMahon AP,Davidson AJ

更新日期：2007-10-01 00:00:00

abstract：:The female gametophyte of flowering plants, the embryo sac, develops within the diploid (sporophytic) tissue of the ovule. While embryo sac-expressed genes are known to be required at multiple stages of the fertilization process, the set of embryo sac-expressed genes has remained poorly defined. In particular, the set...

journal_title：PLoS genetics

authors： Jones-Rhoades MW,Borevitz JO,Preuss D

更新日期：2007-10-01 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：: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：:Understanding the transcriptional regulation of pluripotent cells is of fundamental interest and will greatly inform efforts aimed at directing differentiation of embryonic stem (ES) cells or reprogramming somatic cells. We first analyzed the transcriptional profiles of mouse ES cells and primordial germ cells and ide...

journal_title：PLoS genetics

authors： Grskovic M,Chaivorapol C,Gaspar-Maia A,Li H,Ramalho-Santos M

更新日期：2007-08-01 00:00:00

abstract：:In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We report that the mouse ortholog (Trip13) of pachytene checkpoint 2 (PCH2), an essential component of the synapsis checkpoint in...

journal_title：PLoS genetics

authors： Li XC,Schimenti JC

更新日期：2007-08-01 00:00:00

abstract：:The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellu...

journal_title：PLoS genetics

authors： Auro K,Alanne M,Kristiansson K,Silander K,Kuulasmaa K,Salomaa V,Peltonen L,Perola M

更新日期：2007-07-01 00:00:00

abstract：:Insulator or enhancer-blocking elements are proposed to play an important role in the regulation of transcription by preventing inappropriate enhancer/promoter interaction. The zinc-finger protein CTCF is well studied in vertebrates as an enhancer blocking factor, but Drosophila CTCF has only been characterised recent...

journal_title：PLoS genetics

authors： Holohan EE,Kwong C,Adryan B,Bartkuhn M,Herold M,Renkawitz R,Russell S,White R

更新日期：2007-07-01 00:00:00

abstract：:We performed a genome-scale chromatin immunoprecipitation (ChIP)-chip comparison of two modifications (trimethylation of lysine 9 [H3me3K9] and trimethylation of lysine 27 [H3me3K27]) of histone H3 in Ntera2 testicular carcinoma cells and in three different anatomical sources of primary human fibroblasts. We found tha...

journal_title：PLoS genetics

authors： O'Geen H,Squazzo SL,Iyengar S,Blahnik K,Rinn JL,Chang HY,Green R,Farnham PJ

更新日期：2007-06-01 00:00:00

abstract：:Knowledge of the functional cis-regulatory elements that regulate constitutive and alternative pre-mRNA splicing is fundamental for biology and medicine. Here we undertook a genome-wide comparative genomics approach using available mammalian genomes to identify conserved intronic splicing regulatory elements (ISREs). ...

journal_title：PLoS genetics

authors： Yeo GW,Van Nostrand EL,Liang TY

更新日期：2007-05-25 00:00:00

abstract：:Mycoplasmas are commonly described as the simplest self-replicating organisms, whose evolution was mainly characterized by genome downsizing with a proposed evolutionary scenario similar to that of obligate intracellular bacteria such as insect endosymbionts. Thus far, analysis of mycoplasma genomes indicates a low le...

journal_title：PLoS genetics

authors： Sirand-Pugnet P,Lartigue C,Marenda M,Jacob D,Barré A,Barbe V,Schenowitz C,Mangenot S,Couloux A,Segurens B,de Daruvar A,Blanchard A,Citti C

更新日期：2007-05-18 00:00:00

abstract：:Lifespan can be extended by reduction of dietary intake. This practice is referred to as dietary restriction (DR), and extension of lifespan by DR is evolutionarily conserved in taxonomically diverse organisms including yeast, invertebrates, and mammals. Although these two often-stated facts carry the implication that...

journal_title：PLoS genetics

authors： Piper MD,Partridge L

更新日期：2007-04-27 00:00:00

abstract：:The mechanism of circadian oscillations in mammals is cell autonomous and is generated by a set of genes that form a transcriptional autoregulatory feedback loop. While these "clock genes" are well conserved among animals, their specific functions remain to be fully understood and their roles in central versus periphe...

journal_title：PLoS genetics

authors： Hong HK,Chong JL,Song W,Song EJ,Jyawook AA,Schook AC,Ko CH,Takahashi JS

更新日期：2007-02-23 00:00:00