Elongator complex influences telomeric gene silencing and DNA damage response by its role in wobble uridine tRNA modification.

abstract：:Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...

journal_title：PLoS genetics

authors： Mulderrig L,Garaycoechea JI

更新日期：2020-04-09 00:00:00

abstract：:The semidominant Danforth's short tail (Sd) mutation arose spontaneously in the 1920s. The homozygous Sd phenotype includes severe malformations of the axial skeleton with an absent tail, kidney agenesis, anal atresia, and persistent cloaca. The Sd mutant phenotype mirrors features seen in human caudal malformation sy...

journal_title：PLoS genetics

authors： Vlangos CN,Siuniak AN,Robinson D,Chinnaiyan AM,Lyons RH Jr,Cavalcoli JD,Keegan CE

更新日期：2013-01-01 00:00:00

abstract：:CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci, together with cas (CRISPR-associated) genes, form the CRISPR/Cas adaptive immune system, a primary defense strategy that eubacteria and archaea mobilize against foreign nucleic acids, including phages and conjugative plasmids. Short spacer sequen...

journal_title：PLoS genetics

authors： Rho M,Wu YW,Tang H,Doak TG,Ye Y

更新日期：2012-01-01 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:In flowering plants, gene expression in the haploid male gametophyte (pollen) is essential for sperm delivery and double fertilization. Pollen also undergoes dynamic epigenetic regulation of expression from transposable elements (TEs), but how this process interacts with gene expression is not clearly understood. To e...

journal_title：PLoS genetics

authors： Warman C,Panda K,Vejlupkova Z,Hokin S,Unger-Wallace E,Cole RA,Chettoor AM,Jiang D,Vollbrecht E,Evans MMS,Slotkin RK,Fowler JE

更新日期：2020-04-01 00:00:00

abstract：:Sleep is a nearly universal behavior that is regulated by diverse environmental stimuli and physiological states. A defining feature of sleep is a homeostatic rebound following deprivation, where animals compensate for lost sleep by increasing sleep duration and/or sleep depth. The fruit fly, Drosophila melanogaster, ...

journal_title：PLoS genetics

authors： Brown EB,Shah KD,Faville R,Kottler B,Keene AC

更新日期：2020-03-11 00:00:00

abstract：:Class-switch recombination (CSR), induced by activation-induced cytidine deaminase (AID), can be divided into two phases: DNA cleavage of the switch (S) regions and the joining of the cleaved ends of the different S regions. Here, we show that the DSIF complex (Spt4 and Spt5), a transcription elongation factor, is req...

journal_title：PLoS genetics

authors： Stanlie A,Begum NA,Akiyama H,Honjo T

更新日期：2012-01-01 00:00:00

abstract：:We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in orde...

journal_title：PLoS genetics

authors： Marcheco-Teruel B,Parra EJ,Fuentes-Smith E,Salas A,Buttenschøn HN,Demontis D,Torres-Español M,Marín-Padrón LC,Gómez-Cabezas EJ,Alvarez-Iglesias V,Mosquera-Miguel A,Martínez-Fuentes A,Carracedo A,Børglum AD,Mors O

更新日期：2014-07-24 00:00:00

abstract：:With the increasing focus of genetic association on the identification of trait-associated rare variants through sequencing, it is important to identify the most cost-effective sequencing strategies for these studies. Deep sequencing will accurately detect and genotype the most rare variants per individual, but may li...

journal_title：PLoS genetics

authors： Rashkin S,Jun G,Chen S,Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).,Abecasis GR

更新日期：2017-06-22 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats a...

journal_title：PLoS genetics

authors： Krom YD,Thijssen PE,Young JM,den Hamer B,Balog J,Yao Z,Maves L,Snider L,Knopp P,Zammit PS,Rijkers T,van Engelen BG,Padberg GW,Frants RR,Tawil R,Tapscott SJ,van der Maarel SM

更新日期：2013-04-01 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：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:Mitochondria have been increasingly recognized as a central regulatory nexus for multiple metabolic pathways, in addition to ATP production via oxidative phosphorylation (OXPHOS). Here we show that inducing mitochondrial DNA (mtDNA) stress in Drosophila using a mitochondrially-targeted Type I restriction endonuclease ...

journal_title：PLoS genetics

authors： Bahhir D,Yalgin C,Ots L,Järvinen S,George J,Naudí A,Krama T,Krams I,Tamm M,Andjelković A,Dufour E,González de Cózar JM,Gerards M,Parhiala M,Pamplona R,Jacobs HT,Jõers P

更新日期：2019-10-04 00:00:00

abstract：:Starvation of cells for the DNA building block dTTP is strikingly lethal (thymineless death, TLD), and this effect is observed in all organisms. The phenomenon, discovered some 60 years ago, is widely used to kill cells in anticancer therapies, but many questions regarding the precise underlying mechanisms have remain...

journal_title：PLoS genetics

authors： Itsko M,Schaaper RM

更新日期：2014-05-08 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：: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：:[This corrects the article DOI: 10.1371/journal.pgen.1000832.]. ...

journal_title：PLoS genetics

authors： Clark MJ,Homer N,O'Connor BD,Chen Z,Eskin A,Lee H,Merriman B,Nelson SF

更新日期：2018-05-16 00:00:00

abstract：:A cascade of alternative sigma factors directs developmental gene expression during spore formation by the bacterium Bacillus subtilis. As the spore develops, a tightly regulated switch occurs in which the early-acting sigma factor σF is replaced by the late-acting sigma factor σG. The gene encoding σG (sigG) is trans...

journal_title：PLoS genetics

authors： Mearls EB,Jackter J,Colquhoun JM,Farmer V,Matthews AJ,Murphy LS,Fenton C,Camp AH

更新日期：2018-04-27 00:00:00

abstract：:Introduction of DNA sequences into the genome often results in homology-dependent gene silencing in organisms as diverse as plants, fungi, flies, nematodes, and mammals. We previously showed in Cryptococcus neoformans that a repeat transgene array can induce gene silencing at a high frequency during mating (∼50%), but...

journal_title：PLoS genetics

authors： Wang X,Wang P,Sun S,Darwiche S,Idnurm A,Heitman J

更新日期：2012-01-01 00:00:00

abstract：:Respiratory infectious diseases are the third cause of worldwide death. The nasopharynx is the portal of entry and the ecological niche of many microorganisms, of which some are pathogenic to humans, such as Neisseria meningitidis and Moraxella catarrhalis. These microbes possess several surface structures that intera...

journal_title：PLoS genetics

authors： Veyrier FJ,Biais N,Morales P,Belkacem N,Guilhen C,Ranjeva S,Sismeiro O,Péhau-Arnaudet G,Rocha EP,Werts C,Taha MK,Boneca IG

更新日期：2015-07-10 00:00:00

abstract：:In humans, the absence or irreversible loss of hair cells, the sensory mechanoreceptors in the cochlea, accounts for a large majority of acquired and congenital hearing disorders. In the auditory and vestibular neuroepithelia of the inner ear, hair cells are accompanied by another cell type called supporting cells. Th...

journal_title：PLoS genetics

authors： Behra M,Bradsher J,Sougrat R,Gallardo V,Allende ML,Burgess SM

更新日期：2009-04-01 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：:Bacteria can survive antibiotic treatment without acquiring heritable antibiotic resistance. We investigated persistence to the fluoroquinolone ciprofloxacin in Escherichia coli. Our data show that a majority of persisters to ciprofloxacin were formed upon exposure to the antibiotic, in a manner dependent on the SOS g...

journal_title：PLoS genetics

authors： Dörr T,Lewis K,Vulić M

更新日期：2009-12-01 00:00:00

abstract：:The High Pathogenicity Island of Yersinia pseudotuberculosis IP32637 was previously shown to be horizontally transferable as part of a large chromosomal segment. We demonstrate here that at low temperature other chromosomal loci, as well as a non-mobilizable plasmid (pUC4K), are also transferable. This transfer, desig...

journal_title：PLoS genetics

authors： Lesic B,Zouine M,Ducos-Galand M,Huon C,Rosso ML,Prévost MC,Mazel D,Carniel E

更新日期：2012-01-01 00:00:00

abstract：:Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to...

journal_title：PLoS genetics

authors： Spilker C,Nullmeier S,Grochowska KM,Schumacher A,Butnaru I,Macharadze T,Gomes GM,Yuanxiang P,Bayraktar G,Rodenstein C,Geiseler C,Kolodziej A,Lopez-Rojas J,Montag D,Angenstein F,Bär J,D'Hanis W,Roskoden T,Mikhaylova M

更新日期：2016-03-15 00:00:00

abstract：:The coordination of growth with nutritional status is essential for proper development and physiology. Nutritional information is mostly perceived by peripheral organs before being relayed to the brain, which modulates physiological responses. Hormonal signaling ensures this organ-to-organ communication, and the failu...

journal_title：PLoS genetics

authors： Sano H,Nakamura A,Texada MJ,Truman JW,Ishimoto H,Kamikouchi A,Nibu Y,Kume K,Ida T,Kojima M

更新日期：2015-05-28 00:00:00

abstract：:Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...

journal_title：PLoS genetics

authors： Jin S,Lee YK,Lim YC,Zheng Z,Lin XM,Ng DP,Holbrook JD,Law HY,Kwek KY,Yeo GS,Ding C

更新日期：2013-06-01 00:00:00

abstract：:Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D ...

journal_title：PLoS genetics

authors： Shaffer JR,Orlova E,Lee MK,Leslie EJ,Raffensperger ZD,Heike CL,Cunningham ML,Hecht JT,Kau CH,Nidey NL,Moreno LM,Wehby GL,Murray JC,Laurie CA,Laurie CC,Cole J,Ferrara T,Santorico S,Klein O,Mio W,Feingold E,Hallgr

更新日期：2016-08-25 00:00:00

abstract：:With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction...

journal_title：PLoS genetics

authors： Sirota M,Schaub MA,Batzoglou S,Robinson WH,Butte AJ

更新日期：2009-12-01 00:00:00

abstract：:An important follow-up step after genetic markers are found to be associated with a disease outcome is a more detailed analysis investigating how the implicated gene or chromosomal region and an established environment risk factor interact to influence the disease risk. The standard approach to this study of gene-envi...

journal_title：PLoS genetics

authors： Yu K,Wacholder S,Wheeler W,Wang Z,Caporaso N,Landi MT,Liang F

更新日期：2012-01-01 00:00:00