An abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndrome.

abstract：:Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, with different exonic mutations affecting exon 11 splicing through disru...

journal_title：PLoS genetics

authors： Martínez-Pizarro A,Dembic M,Pérez B,Andresen BS,Desviat LR

更新日期：2018-04-23 00:00:00

abstract：:A role for variant histone H2A.Z in gene expression is now well established but little is known about the mechanisms by which it operates. Using a combination of ChIP-chip, knockdown and expression profiling experiments, we show that upon gene induction, human H2A.Z associates with gene promoters and helps in recruiti...

journal_title：PLoS genetics

authors： Hardy S,Jacques PE,Gévry N,Forest A,Fortin ME,Laflamme L,Gaudreau L,Robert F

更新日期：2009-10-01 00:00:00

abstract：:Almost 60 years ago, Severo Ochoa was awarded the Nobel Prize in Physiology or Medicine for his discovery of the enzymatic synthesis of RNA by polynucleotide phosphorylase (PNPase). Although this discovery provided an important tool for deciphering the genetic code, subsequent work revealed that the predominant functi...

journal_title：PLoS genetics

authors： Cameron TA,Matz LM,De Lay NR

更新日期：2018-10-11 00:00:00

abstract：:Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at ...

journal_title：PLoS genetics

authors： Becherel OJ,Yeo AJ,Stellati A,Heng EY,Luff J,Suraweera AM,Woods R,Fleming J,Carrie D,McKinney K,Xu X,Deng C,Lavin MF

更新日期：2013-04-01 00:00:00

abstract：:Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study...

journal_title：PLoS genetics

authors： Yang Q,Feng B,Zhang K,Guo YY,Liu SB,Wu YM,Li XQ,Zhao MG

更新日期：2012-01-01 00:00:00

abstract：:Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 1...

journal_title：PLoS genetics

authors： Graff M,Scott RA,Justice AE,Young KL,Feitosa MF,Barata L,Winkler TW,Chu AY,Mahajan A,Hadley D,Xue L,Workalemahu T,Heard-Costa NL,den Hoed M,Ahluwalia TS,Qi Q,Ngwa JS,Renström F,Quaye L,Eicher JD,Hayes JE,Corneli

更新日期：2017-04-27 00:00:00

abstract：:Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutation...

journal_title：PLoS genetics

authors： Fernández-Murray JP,Prykhozhij SV,Dufay JN,Steele SL,Gaston D,Nasrallah GK,Coombs AJ,Liwski RS,Fernandez CV,Berman JN,McMaster CR

更新日期：2016-01-28 00:00:00

abstract：:The Rif1 protein is a negative regulator of DNA replication initiation in eukaryotes. Here we show that budding yeast Rif1 inhibits DNA replication initiation at the rDNA locus. Absence of Rif1, or disruption of its interaction with PP1/Glc7 phosphatase, leads to more intensive rDNA replication. The effect of Rif1-Glc...

journal_title：PLoS genetics

authors： Shyian M,Mattarocci S,Albert B,Hafner L,Lezaja A,Costanzo M,Boone C,Shore D

更新日期：2016-11-07 00:00:00

abstract：:Altered daily patterns of hormone action are suspected to contribute to metabolic disease. It is poorly understood how the adrenal glucocorticoid hormones contribute to the coordination of daily global patterns of transcription and metabolism. Here, we examined diurnal metabolite and transcriptome patterns in a zebraf...

journal_title：PLoS genetics

authors： Weger BD,Weger M,Görling B,Schink A,Gobet C,Keime C,Poschet G,Jost B,Krone N,Hell R,Gachon F,Luy B,Dickmeis T

更新日期：2016-12-12 00:00:00

abstract：:The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

journal_title：PLoS genetics

authors： Seoighe C,Scally A

更新日期：2017-01-17 00:00:00

abstract：:Intercellular communication mediated by gap junction (GJ) proteins is indispensable during embryogenesis, tissue regeneration and wound healing. Here we report functional analysis of a gap junction protein, Innexin 2 (Inx2), in cell type specification during Drosophila oogenesis. Our data reveal a novel involvement of...

journal_title：PLoS genetics

authors： Sahu A,Ghosh R,Deshpande G,Prasad M

更新日期：2017-01-23 00:00:00

abstract：:The presence of 5-methylcytidine (m(5)C) in tRNA and rRNA molecules of a wide variety of organisms was first observed more than 40 years ago. However, detection of this modification was limited to specific, abundant, RNA species, due to the usage of low-throughput methods. To obtain a high resolution, systematic, and ...

journal_title：PLoS genetics

authors： Edelheit S,Schwartz S,Mumbach MR,Wurtzel O,Sorek R

更新日期：2013-06-01 00:00:00

abstract：:Nodal and Activin are morphogens of the TGFbeta superfamily of signaling molecules that direct differential cell fate decisions in a dose- and distance-dependent manner. During early embryonic development the Nodal/Activin pathway is responsible for the specification of mesoderm, endoderm, node, and mesendoderm. In co...

journal_title：PLoS genetics

authors： Lee KL,Lim SK,Orlov YL,Yit le Y,Yang H,Ang LT,Poellinger L,Lim B

更新日期：2011-06-01 00:00:00

abstract：:A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in t...

journal_title：PLoS genetics

authors： Brennan P,Wild CP

更新日期：2015-11-05 00:00:00

abstract：:The intra-S phase checkpoint kinase of metazoa and yeast, ATR/MEC1, protects chromosomes from DNA damage and replication stress by phosphorylating subunits of the replicative helicase, MCM2-7. Here we describe an unprecedented ATR-dependent pathway in Tetrahymena thermophila in which the essential pre-replicative comp...

journal_title：PLoS genetics

authors： Sandoval PY,Lee PH,Meng X,Kapler GM

更新日期：2015-07-28 00:00:00

abstract：:Prolific sheep have proven to be a valuable model to identify genes and mutations implicated in female fertility. In the Lacaune sheep breed, large variation in litter size is genetically determined by the segregation of a fecundity major gene influencing ovulation rate, named FecL and its prolific allele FecL(L) . Ou...

journal_title：PLoS genetics

authors： Drouilhet L,Mansanet C,Sarry J,Tabet K,Bardou P,Woloszyn F,Lluch J,Harichaux G,Viguié C,Monniaux D,Bodin L,Mulsant P,Fabre S

更新日期：2013-01-01 00:00:00

abstract：:Global climate change, increasingly erratic weather and a burgeoning global population are significant threats to the sustainability of future crop production. There is an urgent need for the development of robust measures that enable crops to withstand the uncertainty of climate change whilst still producing maximum ...

journal_title：PLoS genetics

authors： Williams B,Njaci I,Moghaddam L,Long H,Dickman MB,Zhang X,Mundree S

更新日期：2015-12-03 00:00:00

abstract：:Increases in fruit weight of cultivated vegetables and fruits accompanied the domestication of these crops. Here we report on the positional cloning of a quantitative trait locus (QTL) controlling fruit weight in tomato. The derived allele of Cell Size Regulator (CSR-D) increases fruit weight predominantly through enl...

journal_title：PLoS genetics

authors： Mu Q,Huang Z,Chakrabarti M,Illa-Berenguer E,Liu X,Wang Y,Ramos A,van der Knaap E

更新日期：2017-08-17 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：:Adaptive radiation is the rapid origination of multiple species from a single ancestor as the result of concurrent adaptation to disparate environments. This fundamental evolutionary process is considered to be responsible for the genesis of a great portion of the diversity of life. Bacteria have evolved enormous biol...

journal_title：PLoS genetics

authors： Engel P,Salzburger W,Liesch M,Chang CC,Maruyama S,Lanz C,Calteau A,Lajus A,Médigue C,Schuster SC,Dehio C

更新日期：2011-02-10 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：:GATA transcription factors play a crucial role in the regulation of immune functions across metazoans. In Caenorhabditis elegans, the GATA transcription factor ELT-2 is involved in the control of not only infections but also recovery after an infection. We identified RPT-6, part of the 19S proteasome subunit, as an EL...

journal_title：PLoS genetics

authors： Olaitan AO,Aballay A

更新日期：2018-09-28 00:00:00

abstract：:Late-Onset Alzheimer's disease (LOAD) is a common, complex genetic disorder well-known for its heterogeneous pathology. The genetic heterogeneity underlying common, complex diseases poses a major challenge for targeted therapies and the identification of novel disease-associated variants. Case-control approaches are o...

journal_title：PLoS genetics

authors： Milind N,Preuss C,Haber A,Ananda G,Mukherjee S,John C,Shapley S,Logsdon BA,Crane PK,Carter GW

更新日期：2020-06-03 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：:Insecticide resistance in malaria vectors threatens to reverse recent gains in malaria control. Deciphering patterns of gene flow and resistance evolution in malaria vectors is crucial to improving control strategies and preventing malaria resurgence. A genome-wide survey of Anopheles funestus genetic diversity Africa...

journal_title：PLoS genetics

authors： Weedall GD,Riveron JM,Hearn J,Irving H,Kamdem C,Fouet C,White BJ,Wondji CS

更新日期：2020-06-04 00:00:00

abstract：:The nuclear lamina is the structural scaffold of the nuclear envelope and is well known for its central role in nuclear organization and maintaining nuclear stability and shape. In the past, a number of severe human disorders have been identified to be associated with mutations in lamins. Extensive research on this to...

journal_title：PLoS genetics

authors： Link J,Jahn D,Schmitt J,Göb E,Baar J,Ortega S,Benavente R,Alsheimer M

更新日期：2013-01-01 00:00:00

abstract：:Krüppel-associated box domain-zinc finger proteins (KRAB-ZFPs) are tetrapod-specific transcriptional repressors encoded in the hundreds by the human genome. In order to explore their as yet ill-defined impact on gene expression, we developed an ectopic repressor assay, allowing the study of KRAB-mediated transcription...

journal_title：PLoS genetics

authors： Groner AC,Meylan S,Ciuffi A,Zangger N,Ambrosini G,Dénervaud N,Bucher P,Trono D

更新日期：2010-03-05 00:00:00

abstract：:Human genome-wide association studies have linked single nucleotide polymorphisms (SNPs) on chromosome 9p21.3 near the INK4/ARF (CDKN2a/b) locus with susceptibility to atherosclerotic vascular disease (ASVD). Although this locus encodes three well-characterized tumor suppressors, p16(INK4a), p15(INK4b), and ARF, the S...

journal_title：PLoS genetics

authors： Burd CE,Jeck WR,Liu Y,Sanoff HK,Wang Z,Sharpless NE

更新日期：2010-12-02 00:00:00

abstract：:Aversive learning and memories are crucial for animals to avoid previously encountered stressful stimuli and thereby increase their chance of survival. Neuropeptides are essential signaling molecules in the brain and are emerging as important modulators of learned behaviors, but their precise role is not well understo...

journal_title：PLoS genetics

authors： Peymen K,Watteyne J,Borghgraef C,Van Sinay E,Beets I,Schoofs L

更新日期：2019-02-19 00:00:00

abstract：:Microtubule-microfilament interactions are important for cytokinesis and subcellular localization of proteins and mRNAs. In the early zebrafish embryo, astral microtubule-microfilament interactions also facilitate a stereotypic segregation pattern of germ plasm ribonucleoparticles (GP RNPs), which is critical for thei...

journal_title：PLoS genetics

authors： Nair S,Marlow F,Abrams E,Kapp L,Mullins MC,Pelegri F

更新日期：2013-04-01 00:00:00