Human mutations in integrator complex subunits link transcriptome integrity to brain development.

abstract：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 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：:Fpr1 (FK506-sensitive proline rotamase 1), a protein of the FKBP12 (FK506-binding protein 12 kDa) family in Saccharomyces cerevisiae, is a primary target for the immunosuppressive agents FK506 and rapamycin. Fpr1 inhibits calcineurin and TORC1 (target of rapamycin complex 1) when bound to FK506 and rapamycin, respecti...

journal_title：PLoS genetics

authors： Kasahara K,Nakayama R,Shiwa Y,Kanesaki Y,Ishige T,Yoshikawa H,Kokubo T

更新日期：2020-06-30 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：:Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (R...

journal_title：PLoS genetics

authors： Simeonova I,Lejour V,Bardot B,Bouarich-Bourimi R,Morin A,Fang M,Charbonnier L,Toledo F

更新日期：2012-06-01 00:00:00

abstract：:Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number ...

journal_title：PLoS genetics

authors： Pylkäs K,Vuorela M,Otsukka M,Kallioniemi A,Jukkola-Vuorinen A,Winqvist R

更新日期：2012-01-01 00:00:00

abstract：:Studies of the severely pancytopenic scat mouse model first demonstrated the crucial role of RASA3, a dual RAS and RAP GTPase activating protein (GAP), in hematopoiesis. RASA3 is required for survival in utero; germline deletion is lethal at E12.5-13.5 due to severe hemorrhage. Here, conditional deletion in hematopoie...

journal_title：PLoS genetics

authors： Robledo RF,Ciciotte SL,Graber JH,Zhao Y,Lambert AJ,Gwynn B,Maki NJ,Brindley EC,Hartman E,Blanc L,Peters LL

更新日期：2020-12-28 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：:Wnt signaling regulates primary body axis formation across the Metazoa, with high Wnt signaling specifying posterior identity. Whether a common Wnt-driven transcriptional program accomplishes this broad role is poorly understood. We identified genes acutely affected after Wnt signaling inhibition in the posterior of t...

journal_title：PLoS genetics

authors： Tewari AG,Owen JH,Petersen CP,Wagner DE,Reddien PW

更新日期：2019-10-18 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:The cytoplasmic peptide:N-glycanase (Ngly1 in mammals) is a de-N-glycosylating enzyme that is highly conserved among eukaryotes. It was recently reported that subjects harboring mutations in the NGLY1 gene exhibited severe systemic symptoms (NGLY1-deficiency). While the enzyme obviously has a critical role in mammals,...

journal_title：PLoS genetics

authors： Fujihira H,Masahara-Negishi Y,Tamura M,Huang C,Harada Y,Wakana S,Takakura D,Kawasaki N,Taniguchi N,Kondoh G,Yamashita T,Funakoshi Y,Suzuki T

更新日期：2017-04-20 00:00:00

abstract：:During development of the cerebral cortex, neural stem cells (NSCs) divide symmetrically to proliferate and asymmetrically to generate neurons. Although faithful segregation of mitotic chromosomes is critical for NSC divisions, its fundamental mechanism remains unclear. A class of evolutionarily conserved protein comp...

journal_title：PLoS genetics

authors： Nishide K,Hirano T

更新日期：2014-12-04 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 at which genomes adapt to environmental changes and the prevalence of adaptive processes in molecular evolution are two controversial issues in current evolutionary genetics. Previous attempts to quantify the genome-wide rate of adaptation through amino-acid substitution have revealed a surprising diversity o...

journal_title：PLoS genetics

authors： Galtier N

更新日期：2016-01-11 00:00:00

abstract：:Polygenic scores are increasingly powerful predictors of educational achievement. It is unclear, however, how sets of polygenic scores, which partly capture environmental effects, perform jointly with sets of environmental measures, which are themselves heritable, in prediction models of educational achievement. Here,...

journal_title：PLoS genetics

authors： Allegrini AG,Karhunen V,Coleman JRI,Selzam S,Rimfeld K,von Stumm S,Pingault JB,Plomin R

更新日期：2020-11-17 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) on chromosome 9p21 are associated with coronary artery disease, diabetes, and multiple cancers. Risk SNPs are mainly non-coding, suggesting that they influence expression and may act in cis. We examined the association between 56 SNPs in this region and peripheral blood expressio...

journal_title：PLoS genetics

authors： Cunnington MS,Santibanez Koref M,Mayosi BM,Burn J,Keavney B

更新日期：2010-04-08 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：:Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in this population could provide insight into coordinated physiological...

journal_title：PLoS genetics

authors： Xing J,Wuren T,Simonson TS,Watkins WS,Witherspoon DJ,Wu W,Qin G,Huff CD,Jorde LB,Ge RL

更新日期：2013-01-01 00:00:00

abstract：:Complex trait genome-wide association studies (GWAS) provide an efficient strategy for evaluating large numbers of common variants in large numbers of individuals and for identifying trait-associated variants. Nevertheless, GWAS often leave much of the trait heritability unexplained. We hypothesized that some of this ...

journal_title：PLoS genetics

authors： Sanna S,Li B,Mulas A,Sidore C,Kang HM,Jackson AU,Piras MG,Usala G,Maninchedda G,Sassu A,Serra F,Palmas MA,Wood WH 3rd,Njølstad I,Laakso M,Hveem K,Tuomilehto J,Lakka TA,Rauramaa R,Boehnke M,Cucca F,Uda M,Schles

更新日期：2011-07-01 00:00:00

abstract：:The heterochromatin-enriched HP1 proteins play a critical role in regulation of transcription. These proteins contain two related domains known as the chromo- and the chromoshadow-domain. The chromo-domain binds histone H3 tails methylated on lysine 9. However, in vivo and in vitro experiments have shown that the affi...

journal_title：PLoS genetics

authors： Lavigne M,Eskeland R,Azebi S,Saint-André V,Jang SM,Batsché E,Fan HY,Kingston RE,Imhof A,Muchardt C

更新日期：2009-12-01 00:00:00

abstract：:Considerable evidence now supports the idea that the moderate telomere lengthening produced by recombinational telomere elongation (RTE) in a Kluyveromyces lactis telomerase deletion mutant occurs through a roll-and-spread mechanism. However, it is unclear whether this mechanism can account for other forms of RTE that...

journal_title：PLoS genetics

authors： Xu J,McEachern MJ

更新日期：2012-01-01 00:00:00

abstract：:The contributions of the Sgs1, Mph1, and Srs2 DNA helicases during mitotic double-strand break (DSB) repair in yeast were investigated using a gap-repair assay. A diverged chromosomal substrate was used as a repair template for the gapped plasmid, allowing mismatch-containing heteroduplex DNA (hDNA) formed during reco...

journal_title：PLoS genetics

authors： Mitchel K,Lehner K,Jinks-Robertson S

更新日期：2013-01-01 00:00:00

abstract：:Light is one of the most important environmental cues regulating multiple aspects of plant growth and development, and abscisic acid (ABA) is a plant hormone that plays important roles during many phases of the plant life cycle and in plants' responses to various environmental stresses. How plants integrate the extern...

journal_title：PLoS genetics

authors： Xu D,Li J,Gangappa SN,Hettiarachchi C,Lin F,Andersson MX,Jiang Y,Deng XW,Holm M

更新日期：2014-02-27 00:00:00

abstract：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:Innate immunity in Caenorhabditis elegans requires a conserved PMK-1 p38 mitogen-activated protein kinase (MAPK) pathway that regulates the basal and pathogen-induced expression of immune effectors. The mechanisms by which PMK-1 p38 MAPK regulates the transcriptional activation of the C. elegans immune response have n...

journal_title：PLoS genetics

authors： Shivers RP,Pagano DJ,Kooistra T,Richardson CE,Reddy KC,Whitney JK,Kamanzi O,Matsumoto K,Hisamoto N,Kim DH

更新日期：2010-04-01 00:00:00

abstract：:Transposable elements are driving forces for establishing genetic innovations such as transcriptional regulatory networks in eukaryotic genomes. Here, we describe a silencer situated in the last 300 bp of the Mos1 transposase open reading frame (ORF) which functions in vertebrate and arthropod cells. Functional silenc...

journal_title：PLoS genetics

authors： Bire S,Casteret S,Piégu B,Beauclair L,Moiré N,Arensbuger P,Bigot Y

更新日期：2016-03-03 00:00:00

abstract：:In haploid cells of Ogataea (Hansenula) polymorpha an environmental signal, nitrogen starvation, induces a reversible change in the structure of a chromosome. This process, mating-type switching, inverts a 19-kb DNA region to place either MATa or MATα genes under centromeric repression of transcription, depending on t...

journal_title：PLoS genetics

authors： Hanson SJ,Byrne KP,Wolfe KH

更新日期：2017-11-27 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：: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：: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