Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.

abstract：:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating...

journal_title：PLoS genetics

authors： Meng L,Person RE,Huang W,Zhu PJ,Costa-Mattioli M,Beaudet AL

更新日期：2013-01-01 00:00:00

abstract：:Most Cryptococccus neoformans genes are interrupted by introns, and alternative splicing occurs very often. In this study, we examined the influence of introns on C. neoformans gene expression. For most tested genes, elimination of introns greatly reduces mRNA accumulation. Strikingly, the number and the position of i...

journal_title：PLoS genetics

authors： Goebels C,Thonn A,Gonzalez-Hilarion S,Rolland O,Moyrand F,Beilharz TH,Janbon G

更新日期：2013-01-01 00:00:00

abstract：:While there has been much recent focus on the ecological causes of adaptive diversification, we know less about the genetic nature of the trade-offs in resource use that create and maintain stable, diversified ecotypes. Here we show how a regulatory genetic change can contribute to sympatric diversification caused by ...

journal_title：PLoS genetics

authors： Spencer CC,Bertrand M,Travisano M,Doebeli M

更新日期：2007-01-19 00:00:00

abstract：:Recent studies in population of European ancestry have shown that 30% ~ 50% of heritability for human complex traits such as height and body mass index, and common diseases such as schizophrenia and rheumatoid arthritis, can be captured by common SNPs and that genetic variation attributed to chromosomes are in proport...

journal_title：PLoS genetics

authors： Yang J,Lee T,Kim J,Cho MC,Han BG,Lee JY,Lee HJ,Cho S,Kim H

更新日期：2013-01-01 00:00:00

abstract：:rs143383 is a C to T transition SNP located in the 5'untranslated region (5'UTR) of the growth differentiation factor 5 gene GDF5. The T allele of the SNP is associated with increased risk of osteoarthritis (OA) in Europeans and in Asians. This susceptibility is mediated by the T allele producing less GDF5 transcript ...

journal_title：PLoS genetics

authors： Syddall CM,Reynard LN,Young DA,Loughlin J

更新日期：2013-06-01 00:00:00

abstract：:General parameters of selection, such as the frequency and strength of positive selection in natural populations or the role of introgression, are still insufficiently understood. The house mouse (Mus musculus) is a particularly well-suited model system to approach such questions, since it has a defined history of spl...

journal_title：PLoS genetics

authors： Staubach F,Lorenc A,Messer PW,Tang K,Petrov DA,Tautz D

更新日期：2012-01-01 00:00:00

abstract：:Sister centromere fusion is a process unique to meiosis that promotes co-orientation of the sister kinetochores, ensuring they attach to microtubules from the same pole during metaphase I. We have found that the kinetochore protein SPC105R/KNL1 and Protein Phosphatase 1 (PP1-87B) regulate sister centromere fusion in D...

journal_title：PLoS genetics

authors： Wang LI,Das A,McKim KS

更新日期：2019-05-31 00:00:00

abstract：:An important follow-up step after genetic markers are found to be associated with a disease outcome is a more detailed analysis investigating how the implicated gene or chromosomal region and an established environment risk factor interact to influence the disease risk. The standard approach to this study of gene-envi...

journal_title：PLoS genetics

authors： Yu K,Wacholder S,Wheeler W,Wang Z,Caporaso N,Landi MT,Liang F

更新日期：2012-01-01 00:00:00

abstract：:Pervasive natural selection can strongly influence observed patterns of genetic variation, but these effects remain poorly understood when multiple selected variants segregate in nearby regions of the genome. Classical population genetics fails to account for interference between linked mutations, which grows increasi...

journal_title：PLoS genetics

authors： Good BH,Walczak AM,Neher RA,Desai MM

更新日期：2014-03-27 00:00:00

abstract：:Centromere sequences are not conserved between species, and there is compelling evidence for epigenetic regulation of centromere identity, with location being dictated by the presence of chromatin containing the histone H3 variant CENP-A. Paradoxically, in most organisms CENP-A chromatin generally occurs on particular...

journal_title：PLoS genetics

authors： Catania S,Pidoux AL,Allshire RC

更新日期：2015-03-04 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：:Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-translational modificati...

journal_title：PLoS genetics

authors： Reimand J,Wagih O,Bader GD

更新日期：2015-01-22 00:00:00

abstract：:Understanding cell proliferation mechanisms has been a long-lasting goal of the scientific community and specifically of cancer researchers. Previous genome-scale studies of cancer proliferation determinants have mainly relied on knockdown screens aimed to gauge their effects on cancer growth. This powerful approach h...

journal_title：PLoS genetics

authors： Waldman YY,Geiger T,Ruppin E

更新日期：2013-01-01 00:00:00

abstract：:The C. elegans ortholog of mammalian calsyntenins, CASY-1, is an evolutionarily conserved type-I transmembrane protein that is highly enriched in the nervous system. Mammalian calsyntenins are strongly expressed at inhibitory synapses, but their role in synapse development and function is still elusive. Here, we repor...

journal_title：PLoS genetics

authors： Thapliyal S,Vasudevan A,Dong Y,Bai J,Koushika SP,Babu K

更新日期：2018-03-12 00:00:00

abstract：:Translational systems can respond promptly to sudden environmental changes to provide rapid adaptations to environmental stress. Unlike the well-studied translational responses to oxidative stress in eukaryotic systems, little is known regarding how prokaryotes respond rapidly to oxidative stress in terms of translati...

journal_title：PLoS genetics

authors： Zhong J,Xiao C,Gu W,Du G,Sun X,He QY,Zhang G

更新日期：2015-06-19 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：:Heteromorphic sex-determining regions or mating-type loci can contain large regions of non-recombining sequence where selection operates under different constraints than in freely recombining autosomal regions. Detailed studies of these non-recombining regions can provide insights into how genes are gained and lost, a...

journal_title：PLoS genetics

authors： De Hoff PL,Ferris P,Olson BJ,Miyagi A,Geng S,Umen JG

更新日期：2013-08-01 00:00:00

abstract：:Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recess...

journal_title：PLoS genetics

authors： Chahrour MH,Yu TW,Lim ET,Ataman B,Coulter ME,Hill RS,Stevens CR,Schubert CR,ARRA Autism Sequencing Collaboration.,Greenberg ME,Gabriel SB,Walsh CA

更新日期：2012-01-01 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：:Bacteria can survive antibiotic treatment without acquiring heritable antibiotic resistance. We investigated persistence to the fluoroquinolone ciprofloxacin in Escherichia coli. Our data show that a majority of persisters to ciprofloxacin were formed upon exposure to the antibiotic, in a manner dependent on the SOS g...

journal_title：PLoS genetics

authors： Dörr T,Lewis K,Vulić M

更新日期：2009-12-01 00:00:00

abstract：:In many insects, the accessory gland, a secretory tissue of the male reproductive system, is essential for male fertility. Male accessory gland is the major source of proteinaceous secretions, collectively called as seminal proteins (or accessory gland proteins), which upon transfer, manipulate the physiology and beha...

journal_title：PLoS genetics

authors： Sharma V,Pandey AK,Kumar A,Misra S,Gupta HPK,Gupta S,Singh A,Buehner NA,Ravi Ram K

更新日期：2017-05-11 00:00:00

abstract：:Neural stem cell self-renewal, neurogenesis, and cell fate determination are processes that control the generation of specific classes of neurons at the correct place and time. The transcription factor Pax6 is essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central n...

journal_title：PLoS genetics

authors： Sansom SN,Griffiths DS,Faedo A,Kleinjan DJ,Ruan Y,Smith J,van Heyningen V,Rubenstein JL,Livesey FJ

更新日期：2009-06-01 00:00:00

abstract：:The catalytic subunit of yeast telomerase, Est2p, is a telomere associated throughout most of the cell cycle, while the Est1p subunit binds only in late S/G2 phase, the time of telomerase action. Est2p binding in G1/early S phase requires a specific interaction between telomerase RNA (TLC1) and Ku80p. Here, we show th...

journal_title：PLoS genetics

authors： Chan A,Boulé JB,Zakian VA

更新日期：2008-10-01 00:00:00

abstract：:Craniofacial abnormalities, including facial skeletal defects, comprise approximately one-third of all birth defects in humans. Since most bones in the face derive from cranial neural crest cells (CNCCs), which are multipotent stem cells, craniofacial bone disorders are largely attributed to defects in CNCCs. However,...

journal_title：PLoS genetics

authors： Kitami K,Kitami M,Kaku M,Wang B,Komatsu Y

更新日期：2018-05-02 00:00:00

abstract：:Dietary restriction (DR) is the most consistent means of extending longevity in a wide range of organisms. A growing body of literature indicates that mitochondria play an important role in longevity extension by DR, but the impact of mitochondrial genotypes on the DR process have received little attention. Mitochondr...

journal_title：PLoS genetics

authors： Zhu CT,Ingelmo P,Rand DM

更新日期：2014-05-15 00:00:00

abstract：:Movement of the transcription machinery along a template alters DNA topology resulting in the accumulation of supercoils in DNA. The positive supercoils generated ahead of transcribing RNA polymerase (RNAP) and the negative supercoils accumulating behind impose severe topological constraints impeding transcription pro...

journal_title：PLoS genetics

authors： Ahmed W,Sala C,Hegde SR,Jha RK,Cole ST,Nagaraja V

更新日期：2017-05-02 00:00:00

abstract：:Recently, Wu and colleagues [1] proposed two novel statistics for genome-wide interaction analysis using case/control or case-only data. In computer simulations, their proposed case/control statistic outperformed competing approaches, including the fast-epistasis option in PLINK and logistic regression analysis under ...

journal_title：PLoS genetics

authors： Ueki M,Cordell HJ

更新日期：2012-01-01 00:00:00

abstract：:Through as yet undefined proteins and pathways, the SUMO-targeted ubiquitin ligase (STUbL) suppresses genomic instability by ubiquitinating SUMO conjugated proteins and driving their proteasomal destruction. Here, we identify a critical function for fission yeast STUbL in suppressing spontaneous and chemically induced...

journal_title：PLoS genetics

authors： Heideker J,Prudden J,Perry JJ,Tainer JA,Boddy MN

更新日期：2011-03-01 00:00:00

abstract：:Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is needed to improve our understanding of the biological mechanisms underlying GWAS hits, and our ability to identify therapeutic targets. Gene-level association methods such as PrediXcan can prioritize candidat...

journal_title：PLoS genetics

authors： Barbeira AN,Pividori M,Zheng J,Wheeler HE,Nicolae DL,Im HK

更新日期：2019-01-22 00:00:00

abstract：:As a member of the large Ran-binding protein family, Ran-binding protein 9 (RANBP9) has been suggested to play a critical role in diverse cellular functions in somatic cell lineages in vitro, and this is further supported by the neonatal lethality phenotype in Ranbp9 global knockout mice. However, the exact molecular ...

journal_title：PLoS genetics

authors： Bao J,Tang C,Li J,Zhang Y,Bhetwal BP,Zheng H,Yan W

更新日期：2014-12-04 00:00:00