Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

abstract：:During pancreatic development, transcription factor cascades gradually commit precursor populations to the different endocrine cell fate pathways. Although mutational analyses have defined the functions of many individual pancreatic transcription factors, the integrative transcription factor networks required to regul...

journal_title：PLoS genetics

authors： Mastracci TL,Anderson KR,Papizan JB,Sussel L

更新日期：2013-01-01 00:00:00

abstract：:Understanding the molecular mechanisms of ultraviolet (UV) induced melanoma formation is becoming crucial with more reported cases each year. Expression of type II nuclear receptor Retinoid-X-Receptor α (RXRα) is lost during melanoma progression in humans. Here, we observed that in mice with melanocyte-specific ablati...

journal_title：PLoS genetics

authors： Coleman DJ,Garcia G,Hyter S,Jang HS,Chagani S,Liang X,Larue L,Ganguli-Indra G,Indra AK

更新日期：2014-05-08 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

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：:Hematopoietic stem cells (HSCs) are rare quiescent cells that continuously replenish the cellular components of the peripheral blood. Observing that the ataxia-associated gene Ataxin-1-like (Atxn1L) was highly expressed in HSCs, we examined its role in HSC function through in vitro and in vivo assays. Mice lacking Atx...

journal_title：PLoS genetics

authors： Kahle JJ,Souroullas GP,Yu P,Zohren F,Lee Y,Shaw CA,Zoghbi HY,Goodell MA

更新日期：2013-03-01 00:00:00

abstract：:The pentatricopeptide repeat (PPR) is a helical repeat motif found in an exceptionally large family of RNA-binding proteins that functions in mitochondrial and chloroplast gene expression. PPR proteins harbor between 2 and 30 repeats and typically bind single-stranded RNA in a sequence-specific fashion. However, the b...

journal_title：PLoS genetics

authors： Barkan A,Rojas M,Fujii S,Yap A,Chong YS,Bond CS,Small I

更新日期：2012-01-01 00:00:00

abstract：:The Eukaryotic RecA-like proteins Rad51 and Dmc1 cooperate during meiosis to promote recombination between homologous chromosomes by repairing programmed DNA double strand breaks (DSBs). Previous studies showed that Rad51 and Dmc1 form partially overlapping co-foci. Here we show these Rad51-Dmc1 co-foci are often arra...

journal_title：PLoS genetics

authors： Brown MS,Grubb J,Zhang A,Rust MJ,Bishop DK

更新日期：2015-12-31 00:00:00

abstract：:The inability of native Saccharomyces cerevisiae to convert xylose from plant biomass into biofuels remains a major challenge for the production of renewable bioenergy. Despite extensive knowledge of the regulatory networks controlling carbon metabolism in yeast, little is known about how to reprogram S. cerevisiae to...

journal_title：PLoS genetics

authors： Sato TK,Tremaine M,Parreiras LS,Hebert AS,Myers KS,Higbee AJ,Sardi M,McIlwain SJ,Ong IM,Breuer RJ,Avanasi Narasimhan R,McGee MA,Dickinson Q,La Reau A,Xie D,Tian M,Reed JL,Zhang Y,Coon JJ,Hittinger CT,Gasch AP,La

更新日期：2016-10-14 00:00:00

abstract：:Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...

journal_title：PLoS genetics

authors： Bhatnagar SR,Yang Y,Lu T,Schurr E,Loredo-Osti JC,Forest M,Oualkacha K,Greenwood CMT

更新日期：2020-05-04 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：:Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of del...

journal_title：PLoS genetics

authors： MacArthur JA,Spector TD,Lindsay SJ,Mangino M,Gill R,Small KS,Hurles ME

更新日期：2014-03-06 00:00:00

abstract：:Phenotypic variation within an isogenic bacterial population is thought to ensure the survival of a subset of cells in adverse conditions. The opportunistic pathogen Pseudomonas aeruginosa variably expresses several phenotypes, including antibiotic resistance, biofilm formation, and the production of CupA fimbriae. He...

journal_title：PLoS genetics

authors： Turner KH,Vallet-Gely I,Dove SL

更新日期：2009-12-01 00:00:00

abstract：:The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systemat...

journal_title：PLoS genetics

authors： Tuch BB,Mitrovich QM,Homann OR,Hernday AD,Monighetti CK,De La Vega FM,Johnson AD

更新日期：2010-08-19 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：:Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to...

journal_title：PLoS genetics

authors： Hong Y,Sonneville R,Agostinho A,Meier B,Wang B,Blow JJ,Gartner A

更新日期：2016-03-24 00:00:00

abstract：:Salt stress is an important environmental factor that significantly limits crop productivity worldwide. Studies on responses of plants to salt stress in recent years have identified novel signaling pathways and have been at the forefront of plant stress biology and plant biology in general. Thus far, research on salt ...

journal_title：PLoS genetics

authors： Guan Q,Wu J,Yue X,Zhang Y,Zhu J

更新日期：2013-08-01 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：:NF-κB is a key transcription factor regulating the expression of inflammatory responsive genes. How NF-κB binds to naked DNA templates is well documented, but how it interacts with chromatin is far from being clear. Here we used a combination of UV laser footprinting, hydroxyl footprinting and electrophoretic mobility...

journal_title：PLoS genetics

authors： Lone IN,Shukla MS,Charles Richard JL,Peshev ZY,Dimitrov S,Angelov D

更新日期：2013-01-01 00:00:00

abstract：:Replication Protein A (RPA) is a heterotrimeric, single-stranded DNA (ssDNA)-binding complex required for DNA replication and repair, homologous recombination, DNA damage checkpoint signaling, and telomere maintenance. Whilst the larger RPA subunits, Rpa1 and Rpa2, have essential interactions with ssDNA, the molecular...

journal_title：PLoS genetics

authors： Cavero S,Limbo O,Russell P

更新日期：2010-09-23 00:00:00

abstract：:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make...

journal_title：PLoS genetics

authors： Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier C

更新日期：2012-01-01 00:00:00

abstract：:Maintaining levels of calcium in the cytosol is important for many cellular events, including cell migration, where localized regions of high calcium are required to regulate cytoskeletal dynamics, contractility, and adhesion. Studies show inositol-trisphosphate receptors (IP3R) and ryanodine receptors (RyR), which re...

journal_title：PLoS genetics

authors： Praitis V,Simske J,Kniss S,Mandt R,Imlay L,Feddersen C,Miller MB,Mushi J,Liszewski W,Weinstein R,Chakravorty A,Ha DG,Schacht Farrell A,Sullivan-Wilson A,Stock T

更新日期：2013-05-01 00:00:00

abstract：:The mammalian Y chromosome plays a critical role in spermatogenesis. However, the exact functions of each gene in the Y chromosome have not been completely elucidated, partly owing to difficulties in gene targeting analysis of the Y chromosome. Zfy was first proposed to be a sex determination factor, but its function ...

journal_title：PLoS genetics

authors： Nakasuji T,Ogonuki N,Chiba T,Kato T,Shiozawa K,Yamatoya K,Tanaka H,Kondo T,Miyado K,Miyasaka N,Kubota T,Ogura A,Asahara H

更新日期：2017-01-23 00:00:00

abstract：:Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L (WBSCR16), a putative GDP/GTP exchange factor, has recently been described to in...

journal_title：PLoS genetics

authors： Reyes A,Favia P,Vidoni S,Petruzzella V,Zeviani M

更新日期：2020-07-31 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 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：: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：:Synthesis of ribosomal RNA by RNA polymerase I (RNA pol I) is an elemental biological process and is key for cellular homeostasis. In a forward genetic screen in C. elegans designed to identify DNA damage-response factors, we isolated a point mutation of RNA pol I, rpoa-2(op259), that leads to altered rRNA synthesis a...

journal_title：PLoS genetics

authors： Eberhard R,Stergiou L,Hofmann ER,Hofmann J,Haenni S,Teo Y,Furger A,Hengartner MO

更新日期：2013-11-01 00:00:00

abstract：:Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptom...

journal_title：PLoS genetics

authors： Venturini G,Rose AM,Shah AZ,Bhattacharya SS,Rivolta C

更新日期：2012-01-01 00:00:00

abstract：:Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects population...

journal_title：PLoS genetics

authors： Gouveia MH,Bergen AW,Borda V,Nunes K,Leal TP,Ogwang MD,Yeboah ED,Mensah JE,Kinyera T,Otim I,Nabalende H,Legason ID,Mpoloka SW,Mokone GG,Kerchan P,Bhatia K,Reynolds SJ,Birtwum RB,Adjei AA,Tettey Y,Tay E,Hoover R

更新日期：2019-03-08 00:00:00

abstract：:Most genetic variants associated with disease occur within regulatory regions of the genome, underscoring the importance of defining the mechanisms underlying differences in regulation of gene expression between individuals. We discovered a pair of co-regulated, divergently oriented transcripts, AQY2 and ncFRE6, that ...

journal_title：PLoS genetics

authors： Read T,Richmond PA,Dowell RD

更新日期：2016-01-11 00:00:00