Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis.

abstract：:During neural circuit formation, most axons are guided to complex environments, coming into contact with multiple potential synaptic partners. However, it is critical that they recognize specific neurons with which to form synapses. Here, we utilize the split GFP-based marker Neuroligin-1 GFP Reconstitution Across Syn...

journal_title：PLoS genetics

authors： Varshney A,Benedetti K,Watters K,Shankar R,Tatarakis D,Coto Villa D,Magallanes K,Agenor V,Wung W,Farah F,Ali N,Le N,Pyle J,Farooqi A,Kieu Z,Bremer M,VanHoven M

更新日期：2018-05-09 00:00:00

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 vast majority of meiotic recombination events (crossovers (COs) and non-crossovers (NCOs)) cluster in narrow hotspots surrounded by large regions devoid of recombinational activity. Here, using a new molecular approach in plants, called "pollen-typing", we detected and characterized hundreds of CO and NCO molecule...

journal_title：PLoS genetics

authors： Drouaud J,Khademian H,Giraut L,Zanni V,Bellalou S,Henderson IR,Falque M,Mézard C

更新日期：2013-11-01 00:00:00

abstract：:Chromosome 3p21-22 harbors two clusters of chemokine receptor genes, several of which serve as major or minor coreceptors of HIV-1. Although the genetic association of CCR5 and CCR2 variants with HIV-1 pathogenesis is well known, the role of variation in other nearby chemokine receptor genes remain unresolved. We geno...

journal_title：PLoS genetics

authors： An P,Li R,Wang JM,Yoshimura T,Takahashi M,Samudralal R,O'Brien SJ,Phair J,Goedert JJ,Kirk GD,Troyer JL,Sezgin E,Buchbinder SP,Donfield S,Nelson GW,Winkler CA

更新日期：2011-10-01 00:00:00

abstract：:At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...

journal_title：PLoS genetics

authors： Baker EP,Hittinger CT

更新日期：2019-04-04 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

abstract：:Epigenetic reprogramming is a critical event in the generation of induced pluripotent stem cells (iPSCs). Here, we determined the DNA methylation profiles of 22 human iPSC lines derived from five different cell types (human endometrium, placental artery endothelium, amnion, fetal lung fibroblast, and menstrual blood c...

journal_title：PLoS genetics

authors： Nishino K,Toyoda M,Yamazaki-Inoue M,Fukawatase Y,Chikazawa E,Sakaguchi H,Akutsu H,Umezawa A

更新日期：2011-05-01 00:00:00

abstract：:Neurofibromatosis type 1 is a monogenetic disorder that predisposes individuals to tumor formation and cognitive and behavioral symptoms. The neuronal circuitry and developmental events underlying these neurological symptoms are unknown. To better understand how mutations of the underlying gene (NF1) drive behavioral ...

journal_title：PLoS genetics

authors： King LB,Boto T,Botero V,Aviles AM,Jomsky BM,Joseph C,Walker JA,Tomchik SM

更新日期：2020-07-22 00:00:00

abstract：:The assimilation of nitrate, a most important soil nitrogen source, is tightly regulated in microorganisms and plants. In Aspergillus nidulans, during the transcriptional activation process of nitrate assimilatory genes, the interaction between the pathway-specific transcription factor NirA and the exportin KapK/CRM1 ...

journal_title：PLoS genetics

authors： Gallmetzer A,Silvestrini L,Schinko T,Gesslbauer B,Hortschansky P,Dattenböck C,Muro-Pastor MI,Kungl A,Brakhage AA,Scazzocchio C,Strauss J

更新日期：2015-07-01 00:00:00

abstract：:One of the striking findings of comparative developmental genetics was that expression patterns of core transcription factors are extraordinarily conserved in bilaterians. However, it remains unclear whether cis-regulatory elements of their target genes also exhibit common signatures associated with conserved embryoni...

journal_title：PLoS genetics

authors： Haeussler M,Jaszczyszyn Y,Christiaen L,Joly JS

更新日期：2010-04-15 00:00:00

abstract：:Hormone-dependent activation of enhancers includes histone hyperacetylation and mediator recruitment. Histone hyperacetylation is mostly explained by a bimodal switch model, where histone deacetylases (HDACs) disassociate from chromatin, and histone acetyl transferases (HATs) are recruited. This model builds on decade...

journal_title：PLoS genetics

authors： Præstholm SM,Siersbæk MS,Nielsen R,Zhu X,Hollenberg AN,Cheng SY,Grøntved L

更新日期：2020-05-26 00:00:00

abstract：:Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively explored in relation to tumor methylation attributes in conjunction with other tumor and patient dietary and hormonal characteristics. Using primary breast tumors from 162 (AJCC stage ...

journal_title：PLoS genetics

authors： Christensen BC,Kelsey KT,Zheng S,Houseman EA,Marsit CJ,Wrensch MR,Wiemels JL,Nelson HH,Karagas MR,Kushi LH,Kwan ML,Wiencke JK

更新日期：2010-07-29 00:00:00

abstract：:Successful reproduction is critical to pass genes to the next generation. Seminal proteins contribute to important reproductive processes that lead to fertilization in species ranging from insects to mammals. In Drosophila, the male's accessory gland is a source of seminal fluid proteins that affect the reproductive o...

journal_title：PLoS genetics

authors： Ram KR,Wolfner MF

更新日期：2007-12-01 00:00:00

abstract：:The antigenic repertoire presented by MHC molecules is generated by the antigen processing and presentation (APP) pathway. We analyzed the evolutionary history of 45 genes involved in APP at the inter- and intra-species level. Results showed that 11 genes evolved adaptively in mammals. Several positively selected site...

journal_title：PLoS genetics

authors： Forni D,Cagliani R,Tresoldi C,Pozzoli U,De Gioia L,Filippi G,Riva S,Menozzi G,Colleoni M,Biasin M,Lo Caputo S,Mazzotta F,Comi GP,Bresolin N,Clerici M,Sironi M

更新日期：2014-03-27 00:00:00

abstract：:The combination of large-scale population genomic analyses and trait-based mapping approaches has the potential to provide novel insights into the evolutionary history and genome organization of crop plants. Here, we describe the detailed genotypic and phenotypic analysis of a sunflower (Helianthus annuus L.) associat...

journal_title：PLoS genetics

authors： Mandel JR,Nambeesan S,Bowers JE,Marek LF,Ebert D,Rieseberg LH,Knapp SJ,Burke JM

更新日期：2013-03-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 00:00:00

abstract：:Cellulolytic fungi have evolved a complex regulatory network to maintain the precise balance of nutrients required for growth and hydrolytic enzyme production. When fungi are exposed to cellulose, the transcript levels of cellulase genes rapidly increase and then decline. However, the mechanisms underlying this bell-s...

journal_title：PLoS genetics

authors： Lin L,Wang S,Li X,He Q,Benz JP,Tian C

更新日期：2019-11-25 00:00:00

abstract：:Steroid hormones act, through their respective nuclear receptors, to regulate target gene expression. Despite their critical role in development, physiology, and disease, however, it is still unclear how these systemic cues are refined into tissue-specific responses. We identified a mutation in the evolutionarily cons...

journal_title：PLoS genetics

authors： Ihry RJ,Sapiro AL,Bashirullah A

更新日期：2012-01-01 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：:TGFβs act through canonical and non-canonical pathways, and canonical signals are transduced via Smad2 and Smad3. However, the contribution of canonical vs. non-canonical pathways in cartilage is unknown because the role of Smad2 in chondrogenesis has not been investigated in vivo. Therefore, we analyzed mice in which...

journal_title：PLoS genetics

authors： Wang W,Song B,Anbarchian T,Shirazyan A,Sadik JE,Lyons KM

更新日期：2016-10-14 00:00:00

abstract：:Molybdenum (Mo) is an essential micronutrient for plants, serving as a cofactor for enzymes involved in nitrate assimilation, sulfite detoxification, abscisic acid biosynthesis, and purine degradation. Here we show that natural variation in shoot Mo content across 92 Arabidopsis thaliana accessions is controlled by va...

journal_title：PLoS genetics

authors： Baxter I,Muthukumar B,Park HC,Buchner P,Lahner B,Danku J,Zhao K,Lee J,Hawkesford MJ,Guerinot ML,Salt DE

更新日期：2008-02-29 00:00:00

abstract：:Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a po...

journal_title：PLoS genetics

authors： Simsek D,Brunet E,Wong SY,Katyal S,Gao Y,McKinnon PJ,Lou J,Zhang L,Li J,Rebar EJ,Gregory PD,Holmes MC,Jasin M

更新日期：2011-06-01 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：: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：:DNA methyltransferases are ubiquitous enzymes conserved in bacteria, plants and opisthokonta. These enzymes, which methylate cytosines, are involved in numerous biological processes, notably development. In mammals and higher plants, methylation patterns established and maintained by the cytosine DNA methyltransferase...

journal_title：PLoS genetics

authors： Grognet P,Timpano H,Carlier F,Aït-Benkhali J,Berteaux-Lecellier V,Debuchy R,Bidard F,Malagnac F

更新日期：2019-08-14 00:00:00

abstract：:Mutational fitness effects can be measured with relatively high accuracy in viruses due to their small genome size, which facilitates full-length sequencing and genetic manipulation. Previous work has shown that animal and plant RNA viruses are very sensitive to mutation. Here, we characterize mutational fitness effec...

journal_title：PLoS genetics

authors： Domingo-Calap P,Cuevas JM,Sanjuán R

更新日期：2009-11-01 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：:In the last two decades, mitochondrial DNA (mtDNA) and the non-recombining portion of the Y chromosome (NRY) have been extensively used in order to measure the maternally and paternally inherited genetic structure of human populations, and to infer sex-specific demography and history. Most studies converge towards the...

journal_title：PLoS genetics

authors： Ségurel L,Martínez-Cruz B,Quintana-Murci L,Balaresque P,Georges M,Hegay T,Aldashev A,Nasyrova F,Jobling MA,Heyer E,Vitalis R

更新日期：2008-09-26 00:00:00

abstract：:In Drosophila, dosage compensation augments X chromosome-linked transcription in males relative to females. This process is achieved by the Dosage Compensation Complex (DCC), which associates specifically with the male X chromosome. We previously found that the morphology of this chromosome is sensitive to the amounts...

journal_title：PLoS genetics

authors： Spierer A,Begeot F,Spierer P,Delattre M

更新日期：2008-05-02 00:00:00

abstract：:Genomic instability is a hallmark of human cancer cells. To prevent genomic instability, chromosomal DNA is faithfully duplicated in every cell division cycle, and eukaryotic cells have complex regulatory mechanisms to achieve this goal. Here, we show that untimely activation of replication origins during the G1 phase...

journal_title：PLoS genetics

authors： Tanaka S,Araki H

更新日期：2011-06-01 00:00:00