Integrating molecular QTL data into genome-wide genetic association analysis: Probabilistic assessment of enrichment and colocalization.

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：:High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circula...

journal_title：PLoS genetics

authors： Bigham A,Bauchet M,Pinto D,Mao X,Akey JM,Mei R,Scherer SW,Julian CG,Wilson MJ,López Herráez D,Brutsaert T,Parra EJ,Moore LG,Shriver MD

更新日期：2010-09-09 00:00:00

abstract：:High-throughput genetic screens are powerful methods to identify genes linked to a given phenotype. The catalytic null mutant of the Cas9 RNA-guided nuclease (dCas9) can be conveniently used to silence genes of interest in a method also known as CRISPRi. Here, we report a genome-wide CRISPR-dCas9 screen using a starti...

journal_title：PLoS genetics

authors： Rousset F,Cui L,Siouve E,Becavin C,Depardieu F,Bikard D

更新日期：2018-11-07 00:00:00

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:Plant stress responses require both protective measures that reduce or restore stress-inflicted damage to cellular structures and mechanisms that efficiently remove damaged and toxic macromolecules, such as misfolded and damaged proteins. We have recently reported that NBR1, the first identified plant autophagy adapto...

journal_title：PLoS genetics

authors： Zhou J,Zhang Y,Qi J,Chi Y,Fan B,Yu JQ,Chen Z

更新日期：2014-01-30 00:00:00

abstract：:In understanding the etiology of breast cancer, the contributions of both genetic and environmental risk factors are further complicated by the impact of breast developmental stage. Specifically, the time period ranging from childhood to young adulthood represents a critical developmental window in a woman's life when...

journal_title：PLoS genetics

authors： Henning AN,Haag JD,Smits BM,Gould MN

更新日期：2016-08-18 00:00:00

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：:Mating and gametogenesis are two essential components of animal reproduction. Gametogenesis must be modulated by the need for gametes, yet little is known of how mating, a process that utilizes gametes, may modulate the process of gametogenesis. Here, we report that mating stimulates female germline stem cell (GSC) pr...

journal_title：PLoS genetics

authors： Ameku T,Niwa R

更新日期：2016-06-16 00:00:00

abstract：:The neonatal intestine is a very complex and dynamic organ that must rapidly adapt and remodel in response to a barrage of environmental stimuli during the first few postnatal weeks. Recent studies demonstrate that the zinc finger transcriptional repressor Blimp1/Prdm1 plays an essential role governing postnatal repro...

journal_title：PLoS genetics

authors： Mould AW,Morgan MA,Nelson AC,Bikoff EK,Robertson EJ

更新日期：2015-07-09 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004936.]. ...

journal_title：PLoS genetics

authors： Feng B,Liu C,de Oliveira MV,Intorne AC,Li B,Babilonia K,de Souza Filho GA,Shan L,He P

更新日期：2016-09-09 00:00:00

abstract：:In the oocytes of many animals including humans, the meiotic spindle assembles without centrosomes. It is still unclear how multiple pathways contribute to spindle microtubule assembly, and whether they are regulated differently in mitosis and meiosis. Augmin is a γ-tubulin recruiting complex which "amplifies" spindle...

journal_title：PLoS genetics

authors： Colombié N,Głuszek AA,Meireles AM,Ohkura H

更新日期：2013-06-01 00:00:00

abstract：:Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the domin...

journal_title：PLoS genetics

authors： Dorshorst B,Molin AM,Rubin CJ,Johansson AM,Strömstedt L,Pham MH,Chen CF,Hallböök F,Ashwell C,Andersson L

更新日期：2011-12-01 00:00:00

abstract：:Mitotic and cytokinetic processes harness cell machinery to drive chromosomal segregation and the physical separation of dividing cells. Here, we investigate the functional requirements for exocyst complex function during cell division in vivo, and demonstrate a common mechanism that directs anaphase cell elongation a...

journal_title：PLoS genetics

authors： Giansanti MG,Vanderleest TE,Jewett CE,Sechi S,Frappaolo A,Fabian L,Robinett CC,Brill JA,Loerke D,Fuller MT,Blankenship JT

更新日期：2015-11-03 00:00:00

abstract：:Pathological aggregates of phosphorylated TDP-43 characterize amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), two devastating groups of neurodegenerative disease. Kinase hyperactivity may be a consistent feature of ALS and FTLD-TDP, as phosphorylated TDP-43 is not observed in the ...

journal_title：PLoS genetics

authors： Liachko NF,McMillan PJ,Strovas TJ,Loomis E,Greenup L,Murrell JR,Ghetti B,Raskind MA,Montine TJ,Bird TD,Leverenz JB,Kraemer BC

更新日期：2014-12-04 00:00:00

abstract：:Smc5/6, a member of the conserved SMC family of complexes, is essential for growth in most organisms. Its exact functions in a mitotic cell cycle are controversial, as chronic Smc5/6 loss-of-function alleles produce varying phenotypes. To circumvent this issue, we acutely depleted Smc5/6 in budding yeast and determine...

journal_title：PLoS genetics

authors： Peng XP,Lim S,Li S,Marjavaara L,Chabes A,Zhao X

更新日期：2018-01-23 00:00:00

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：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 00:00:00

abstract：:AMP-activated protein kinase (AMPK) is an evolutionarily conserved master regulator of metabolism and a therapeutic target in type 2 diabetes. As an energy sensor, AMPK activity is responsive to both metabolic inputs, for instance the ratio of AMP to ATP, and numerous hormonal cues. As in mammals, each of two genes, a...

journal_title：PLoS genetics

authors： Cunningham KA,Bouagnon AD,Barros AG,Lin L,Malard L,Romano-Silva MA,Ashrafi K

更新日期：2014-06-12 00:00:00

abstract：:Most B cell lymphomas originate from B cells that have germinal center (GC) experience and bear chromosome translocations and numerous point mutations. GC B cells remodel their immunoglobulin (Ig) genes by somatic hypermutation (SHM) and class switch recombination (CSR) in their Ig genes. Activation Induced Deaminase ...

journal_title：PLoS genetics

authors： Delgado P,Álvarez-Prado ÁF,Marina-Zárate E,Sernandez IV,Mur SM,de la Barrera J,Sanchez-Cabo F,Cañamero M,de Molina A,Belver L,de Yébenes VG,Ramiro AR

更新日期：2020-12-23 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 major transition to eusociality required the evolution of a switch to canalize development into either a reproductive or a helper, the nature of which is currently unknown. Following predictions from the 'theory of facilitated variation', we identify sex differentiation pathways as promising candidates because of ...

journal_title：PLoS genetics

authors： Klein A,Schultner E,Lowak H,Schrader L,Heinze J,Holman L,Oettler J

更新日期：2016-03-31 00:00:00

abstract：:The genetics of domestication has been extensively studied ever since the rediscovery of Mendel's law of inheritance and much has been learned about the genetic control of trait differences between crops and their ancestors. Here, we ask how domestication has altered genetic architecture by comparing the genetic archi...

journal_title：PLoS genetics

authors： Chen Q,Samayoa LF,Yang CJ,Bradbury PJ,Olukolu BA,Neumeyer MA,Romay MC,Sun Q,Lorant A,Buckler ES,Ross-Ibarra J,Holland JB,Doebley JF

更新日期：2020-05-14 00:00:00

abstract：:Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...

journal_title：PLoS genetics

authors： Eberle MA,Rieder MJ,Kruglyak L,Nickerson DA

更新日期：2006-09-08 00:00:00

abstract：:A crucial step in the development of muscle cells in all metazoan animals is the assembly and anchorage of the sarcomere, the essential repeat unit responsible for muscle contraction. In Caenorhabditis elegans, many of the critical proteins involved in this process have been uncovered through mutational screens focusi...

journal_title：PLoS genetics

authors： Meissner B,Warner A,Wong K,Dube N,Lorch A,McKay SJ,Khattra J,Rogalski T,Somasiri A,Chaudhry I,Fox RM,Miller DM 3rd,Baillie DL,Holt RA,Jones SJ,Marra MA,Moerman DG

更新日期：2009-06-01 00:00:00

abstract：:Genome integrity depends on correct chromosome segregation, which in turn relies on cohesion between sister chromatids from S phase until anaphase. S phase cohesion, together with DNA double-strand break (DSB) recruitment of cohesin and formation of damage-induced (DI) cohesion, has previously been shown to be require...

journal_title：PLoS genetics

authors： Enervald E,Lindgren E,Katou Y,Shirahige K,Ström L

更新日期：2013-01-01 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 DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 00:00:00

abstract：:Numerous instances of presence/absence variations for introns have been documented in eukaryotes, and some cases of recurrent loss of the same intron have been suggested. However, there has been no comprehensive or phylogenetically deep analysis of recurrent intron loss. Of 883 cases of intron presence/absence variati...

journal_title：PLoS genetics

authors： Wang H,Devos KM,Bennetzen JL

更新日期：2014-12-04 00:00:00

abstract：:Allele age has long been a focus of population genetic research, primarily because it can be an important clue to the fitness effects of an allele. By virtue of their effects on fitness, alleles under directional selection are expected to be younger than neutral alleles of the same frequency. We developed a new coales...

journal_title：PLoS genetics

authors： Platt A,Pivirotto A,Knoblauch J,Hey J

更新日期：2019-08-19 00:00:00

abstract：:Detection and validation of the RNA degradation signals controlling transcriptome stability are essential steps for understanding how cells regulate gene expression. Here we present complete genomic and biochemical annotations of the signals required for RNA degradation by the dsRNA specific ribonuclease III (Rnt1p) a...

journal_title：PLoS genetics

authors： Gagnon J,Lavoie M,Catala M,Malenfant F,Elela SA

更新日期：2015-02-13 00:00:00