PNUTS/PP1 regulates RNAPII-mediated gene expression and is necessary for developmental growth.

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：:Gene conversion, the non-reciprocal exchange of genetic information, is one of the potential products of meiotic recombination. It can shape genome structure by acting on repetitive DNA elements, influence allele frequencies at the population level, and is known to be implicated in human disease. But gene conversion i...

journal_title：PLoS genetics

authors： Sun Y,Ambrose JH,Haughey BS,Webster TD,Pierrie SN,Muñoz DF,Wellman EC,Cherian S,Lewis SM,Berchowitz LE,Copenhaver GP

更新日期：2012-01-01 00:00:00

abstract：:Epigenetic regulation of gene expression, including by Polycomb Group (PcG) proteins, may depend on heritable chromatin states, but how these states can be propagated through mitosis is unclear. Using immunofluorescence and biochemical fractionation, we find PcG proteins associated with mitotic chromosomes in Drosophi...

journal_title：PLoS genetics

authors： Follmer NE,Wani AH,Francis NJ

更新日期：2012-01-01 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 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：:Monospermic fertilization is mediated by the extracellular zona pellucida composed of ZP1, ZP2 and ZP3. Sperm bind to the N-terminus of ZP2 which is cleaved after fertilization by ovastacin (encoded by Astl) exocytosed from egg cortical granules to prevent sperm binding. AstlNull mice lack the post-fertilization block...

journal_title：PLoS genetics

authors： Xiong B,Zhao Y,Beall S,Sadusky AB,Dean J

更新日期：2017-01-23 00:00:00

abstract：:The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using ...

journal_title：PLoS genetics

authors： Gaudet MM,Kirchhoff T,Green T,Vijai J,Korn JM,Guiducci C,Segrè AV,McGee K,McGuffog L,Kartsonaki C,Morrison J,Healey S,Sinilnikova OM,Stoppa-Lyonnet D,Mazoyer S,Gauthier-Villars M,Sobol H,Longy M,Frenay M,GEMO Study

更新日期：2010-10-28 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：:As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd....

journal_title：PLoS genetics

authors： Rivas MA,Avila BE,Koskela J,Huang H,Stevens C,Pirinen M,Haritunians T,Neale BM,Kurki M,Ganna A,Graham D,Glaser B,Peter I,Atzmon G,Barzilai N,Levine AP,Schiff E,Pontikos N,Weisburd B,Lek M,Karczewski KJ,Bloom J,

更新日期：2018-05-24 00:00:00

abstract：:X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). Biochemically, catalytically inacti...

journal_title：PLoS genetics

authors： Gupta VA,Hnia K,Smith LL,Gundry SR,McIntire JE,Shimazu J,Bass JR,Talbot EA,Amoasii L,Goldman NE,Laporte J,Beggs AH

更新日期：2013-06-01 00:00:00

abstract：:Mutants of trt-1, the Caenorhabditis elegans telomerase reverse transcriptase, reproduce normally for several generations but eventually become sterile as a consequence of telomere erosion and end-to-end chromosome fusions. Telomere erosion and uncapping do not cause an increase in apoptosis in the germlines of trt-1 ...

journal_title：PLoS genetics

authors： Meier B,Clejan I,Liu Y,Lowden M,Gartner A,Hodgkin J,Ahmed S

更新日期：2006-02-01 00:00:00

abstract：:The Hippo pathway regulates organ size, stem cell proliferation and tumorigenesis in adult organs. Whether the Hippo pathway influences establishment of stem cell niche size to accommodate changes in organ size, however, has received little attention. Here, we ask whether Hippo signaling influences the number of stem ...

journal_title：PLoS genetics

authors： Sarikaya DP,Extavour CG

更新日期：2015-02-02 00:00:00

abstract：:Neuronal cargos are differentially targeted to either axons or dendrites, and this polarized cargo targeting critically depends on the interaction between microtubules and molecular motors. From a forward mutagenesis screen, we identified a gain-of-function mutation in the C. elegans α-tubulin gene mec-12 that trigger...

journal_title：PLoS genetics

authors： Hsu JM,Chen CH,Chen YC,McDonald KL,Gurling M,Lee A,Garriga G,Pan CL

更新日期：2014-11-13 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：:Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromo...

journal_title：PLoS genetics

authors： Roewer L,Nothnagel M,Gusmão L,Gomes V,González M,Corach D,Sala A,Alechine E,Palha T,Santos N,Ribeiro-Dos-Santos A,Geppert M,Willuweit S,Nagy M,Zweynert S,Baeta M,Núñez C,Martínez-Jarreta B,González-Andrade F,Fagunde

更新日期：2013-04-01 00:00:00

abstract：:A robust, bistable switch regulates the fluctuations between wakefulness and natural sleep as well as those between wakefulness and anesthetic-induced unresponsiveness. We previously provided experimental evidence for the existence of a behavioral barrier to transitions between these states of arousal, which we call n...

journal_title：PLoS genetics

authors： Joiner WJ,Friedman EB,Hung HT,Koh K,Sowcik M,Sehgal A,Kelz MB

更新日期：2013-01-01 00:00:00

abstract：:Metabolism, the conversion of nutrients into usable energy and biochemical building blocks, is an essential feature of all cells. The genetic factors responsible for inter-individual metabolic variability remain poorly understood. To investigate genetic causes of metabolome variation, we measured the concentrations of...

journal_title：PLoS genetics

authors： Breunig JS,Hackett SR,Rabinowitz JD,Kruglyak L

更新日期：2014-03-06 00:00:00

abstract：:Elg1, the major subunit of a Replication Factor C-like complex, is critical to ensure genomic stability during DNA replication, and is implicated in controlling chromatin structure. We investigated the consequences of Elg1 loss for the dynamics of chromatin re-formation following DNA replication. Measurement of Okazak...

journal_title：PLoS genetics

authors： Gali VK,Dickerson D,Katou Y,Fujiki K,Shirahige K,Owen-Hughes T,Kubota T,Donaldson AD

更新日期：2018-11-12 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：:Genetic studies have identified substantial non-African admixture in the Horn of Africa (HOA). In the most recent genomic studies, this non-African ancestry has been attributed to admixture with Middle Eastern populations during the last few thousand years. However, mitochondrial and Y chromosome data are suggestive o...

journal_title：PLoS genetics

authors： Hodgson JA,Mulligan CJ,Al-Meeri A,Raaum RL

更新日期：2014-06-12 00:00:00

abstract：:Polycomb (PcG) regulation has been thought to produce stable long-term gene silencing. Genomic analyses in Drosophila and mammals, however, have shown that it targets many genes, which can switch state during development. Genetic evidence indicates that critical for the active state of PcG target genes are the histone...

journal_title：PLoS genetics

authors： Schwartz YB,Kahn TG,Stenberg P,Ohno K,Bourgon R,Pirrotta V

更新日期：2010-01-01 00:00:00

abstract：:Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membrane and excessively...

journal_title：PLoS genetics

authors： Hendrickx G,Borra VM,Steenackers E,Yorgan TA,Hermans C,Boudin E,Waterval JJ,Jansen IDC,Aydemir TB,Kamerling N,Behets GJ,Plumeyer C,D'Haese PC,Busse B,Everts V,Lammens M,Mortier G,Cousins RJ,Schinke T,Stokroos RJ,M

更新日期：2018-04-05 00:00:00

abstract：:The circadian clocks in chlorophyte algae have been studied in two model organisms, Chlamydomonas reinhardtii and Ostreococcus tauri. These studies revealed that the chlorophyte clocks include some genes that are homologous to those of the angiosperm circadian clock. However, the genetic network architectures of the c...

journal_title：PLoS genetics

authors： Matsuo T,Iida T,Ohmura A,Gururaj M,Kato D,Mutoh R,Ihara K,Ishiura M

更新日期：2020-06-17 00:00:00

abstract：:Little is known about contacts in the spliceosome between proteins and intron nucleotides surrounding the pre-mRNA branch-site and their dynamics during splicing. We investigated protein-pre-mRNA interactions by UV-induced crosslinking of purified yeast B(act) spliceosomes formed on site-specifically labeled pre-mRNA,...

journal_title：PLoS genetics

authors： Schneider C,Agafonov DE,Schmitzová J,Hartmuth K,Fabrizio P,Lührmann R

更新日期：2015-09-22 00:00:00

abstract：:Pregnancy-induced noncoding RNA (PINC) and retinoblastoma-associated protein 46 (RbAp46) are upregulated in alveolar cells of the mammary gland during pregnancy and persist in alveolar cells that remain in the regressed lobules following involution. The cells that survive involution are thought to function as alveolar...

journal_title：PLoS genetics

authors： Shore AN,Kabotyanski EB,Roarty K,Smith MA,Zhang Y,Creighton CJ,Dinger ME,Rosen JM

更新日期：2012-01-01 00:00:00

abstract：:The Drosophila genes spalt major (salm) and spalt-related (salr) encode Zn-finger transcription factors regulated by the Decapentaplegic (Dpp) signalling pathway in the wing imaginal disc. The function of these genes is required for cell survival and proliferation in the central region of the wing disc, and also for v...

journal_title：PLoS genetics

authors： Organista MF,Martín M,de Celis JM,Barrio R,López-Varea A,Esteban N,Casado M,de Celis JF

更新日期：2015-08-04 00:00:00

abstract：:Adult skeletal muscles are maintained during homeostasis and regenerated upon injury by muscle stem cells (MuSCs). A heterogeneity in self-renewal, differentiation and regeneration properties has been reported for MuSCs based on their anatomical location. Although MuSCs derived from extraocular muscles (EOM) have a hi...

journal_title：PLoS genetics

authors： Evano B,Gill D,Hernando-Herraez I,Comai G,Stubbs TM,Commere PH,Reik W,Tajbakhsh S

更新日期：2020-10-30 00:00:00

abstract：:Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-regulatory DNA sequences that mainly operate via DNA-binding factors. Co...

journal_title：PLoS genetics

authors： Martin-Trujillo A,Patel N,Richter F,Jadhav B,Garg P,Morton SU,McKean DM,DePalma SR,Goldmuntz E,Gruber D,Kim R,Newburger JW,Porter GA Jr,Giardini A,Bernstein D,Tristani-Firouzi M,Seidman JG,Seidman CE,Chung WK,Gelb B

更新日期：2020-11-20 00:00:00

abstract：:Long interspersed nuclear element-1s (LINE-1s, or L1s) are an active family of retrotransposable elements that continue to mutate mammalian genomes. Despite the large contribution of L1 to mammalian genome evolution, we do not know where active L1 particles (particles in the process of retrotransposition) are located ...

journal_title：PLoS genetics

authors： Horn AV,Celic I,Dong C,Martirosyan I,Han JS

更新日期：2017-06-06 00:00:00

abstract：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00