Simultaneous DNA and RNA Mapping of Somatic Mitochondrial Mutations across Diverse Human Cancers.

abstract：:Differentiating cells interact with their extracellular environment over time. Chondrocytes embed themselves in a proteoglycan (PG)-rich matrix, then undergo a developmental transition, termed "maturation," when they express ihh to induce bone in the overlying tissue, the perichondrium. Here, we ask whether PGs regula...

journal_title：PLoS genetics

authors： Eames BF,Yan YL,Swartz ME,Levic DS,Knapik EW,Postlethwait JH,Kimmel CB

更新日期：2011-08-01 00:00:00

abstract：:Seam cells in Caenorhabditis elegans provide a paradigm for the stem cell mode of division, with the ability to both self-renew and produce daughters that differentiate. The transcription factor RNT-1 and its DNA binding partner BRO-1 (homologues of the mammalian cancer-associated stem cell regulators RUNX and CBFβ, r...

journal_title：PLoS genetics

authors： Brabin C,Appleford PJ,Woollard A

更新日期：2011-08-01 00:00:00

abstract：:A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively assess the role of the Knudson two hit genetic model in SCNA generation in prostate cancer...

journal_title：PLoS genetics

authors： Camacho N,Van Loo P,Edwards S,Kay JD,Matthews L,Haase K,Clark J,Dennis N,Thomas S,Kremeyer B,Zamora J,Butler AP,Gundem G,Merson S,Luxton H,Hawkins S,Ghori M,Marsden L,Lambert A,Karaszi K,Pelvender G,Massie CE,

更新日期：2017-09-25 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：:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous muta...

journal_title：PLoS genetics

authors： Rainger J,van Beusekom E,Ramsay JK,McKie L,Al-Gazali L,Pallotta R,Saponari A,Branney P,Fisher M,Morrison H,Bicknell L,Gautier P,Perry P,Sokhi K,Sexton D,Bardakjian TM,Schneider AS,Elcioglu N,Ozkinay F,Koenig R,Még

更新日期：2011-07-01 00:00:00

abstract：:Genetic surveillance of malaria parasites supports malaria control programmes, treatment guidelines and elimination strategies. Surveillance studies often pose questions about malaria parasite ancestry (e.g. how antimalarial resistance has spread) and employ statistical methods that characterise parasite population st...

journal_title：PLoS genetics

authors： Watson JA,Taylor AR,Ashley EA,Dondorp A,Buckee CO,White NJ,Holmes CC

更新日期：2020-10-09 00:00:00

abstract：:It has been suggested that genetic susceptibility plays an important role in the pathogenesis of diabetic nephropathy. A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB)...

journal_title：PLoS genetics

authors： Maeda S,Kobayashi MA,Araki S,Babazono T,Freedman BI,Bostrom MA,Cooke JN,Toyoda M,Umezono T,Tarnow L,Hansen T,Gaede P,Jorsal A,Ng DP,Ikeda M,Yanagimoto T,Tsunoda T,Unoki H,Kawai K,Imanishi M,Suzuki D,Shin HD,Pa

更新日期：2010-02-12 00:00:00

abstract：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 00:00:00

abstract：:The requirements for oocyte meiotic cytokinesis during polar body extrusion are not well understood. In particular, the relationship between the oocyte meiotic spindle and polar body contractile ring dynamics remains largely unknown. We have used live cell imaging and spindle assembly defective mutants lacking the fun...

journal_title：PLoS genetics

authors： Schlientz AJ,Bowerman B

更新日期：2020-10-07 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

abstract：:In this study we have analysed AtASY3, a coiled-coil domain protein that is required for normal meiosis in Arabidopsis. Analysis of an Atasy3-1 mutant reveals that loss of the protein compromises chromosome axis formation and results in reduced numbers of meiotic crossovers (COs). Although the frequency of DNA double-...

journal_title：PLoS genetics

authors： Ferdous M,Higgins JD,Osman K,Lambing C,Roitinger E,Mechtler K,Armstrong SJ,Perry R,Pradillo M,Cuñado N,Franklin FC

更新日期：2012-02-01 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:A novel result of the current research is the development and implementation of a unique functional phylogenomic approach that explores the genomic origins of seed plant diversification. We first use 22,833 sets of orthologs from the nuclear genomes of 101 genera across land plants to reconstruct their phylogenetic re...

journal_title：PLoS genetics

authors： Lee EK,Cibrian-Jaramillo A,Kolokotronis SO,Katari MS,Stamatakis A,Ott M,Chiu JC,Little DP,Stevenson DW,McCombie WR,Martienssen RA,Coruzzi G,Desalle R

更新日期：2011-12-01 00:00:00

abstract：:Identifying the ancestry of chromosomal segments of distinct ancestry has a wide range of applications from disease mapping to learning about history. Most methods require the use of unlinked markers; but, using all markers from genome-wide scanning arrays, it should in principle be possible to infer the ancestry of e...

journal_title：PLoS genetics

authors： Price AL,Tandon A,Patterson N,Barnes KC,Rafaels N,Ruczinski I,Beaty TH,Mathias R,Reich D,Myers S

更新日期：2009-06-01 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：:A variety of human diseases arise from mutations that alter muscle contraction. Evolutionary conservation allows genetic studies in Drosophila melanogaster to be used to better understand these myopathies and suggest novel therapeutic strategies. Integrin-mediated adhesion is required to support muscle structure and f...

journal_title：PLoS genetics

authors： Pronovost SM,Beckerle MC,Kadrmas JL

更新日期：2013-03-01 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：:Cis-regulation plays an essential role in the control of gene expression, and is particularly complex and poorly understood for developmental genes, which are subject to multiple levels of modulation. In this study, we performed a global analysis of the cis-acting elements involved in the control of the zebrafish deve...

journal_title：PLoS genetics

authors： Torbey P,Thierion E,Collombet S,de Cian A,Desmarquet-Trin-Dinh C,Dura M,Concordet JP,Charnay P,Gilardi-Hebenstreit P

更新日期：2018-08-06 00:00:00

abstract：:Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct...

journal_title：PLoS genetics

authors： Nielsen SV,Stein A,Dinitzen AB,Papaleo E,Tatham MH,Poulsen EG,Kassem MM,Rasmussen LJ,Lindorff-Larsen K,Hartmann-Petersen R

更新日期：2017-04-19 00:00:00

abstract：:Shifts between epigenetic states of transcriptional activity are typically correlated with changes in epigenetic marks. However, exceptions to this rule suggest the existence of additional, as yet uncharacterized, layers of epigenetic regulation. MOM1, a protein of 2,001 amino acids that acts as a transcriptional sile...

journal_title：PLoS genetics

authors： Nishimura T,Molinard G,Petty TJ,Broger L,Gabus C,Halazonetis TD,Thore S,Paszkowski J

更新日期：2012-02-01 00:00:00

abstract：:A role for variant histone H2A.Z in gene expression is now well established but little is known about the mechanisms by which it operates. Using a combination of ChIP-chip, knockdown and expression profiling experiments, we show that upon gene induction, human H2A.Z associates with gene promoters and helps in recruiti...

journal_title：PLoS genetics

authors： Hardy S,Jacques PE,Gévry N,Forest A,Fortin ME,Laflamme L,Gaudreau L,Robert F

更新日期：2009-10-01 00:00:00

abstract：:During transcription, the nascent pre-mRNA undergoes a series of processing steps before being exported to the cytoplasm. The 3'-end processing machinery involves different proteins, this function being crucial to cell growth and viability in eukaryotes. Here, we found that the rna14-1, rna15-1, and hrp1-5 alleles of ...

journal_title：PLoS genetics

authors： Gaillard H,Aguilera A

更新日期：2014-03-06 00:00:00

abstract：:Colicins are plasmid-encoded narrow spectrum antibiotics that are synthesized by strains of Escherichia coli and govern intraspecies competition. In a previous report, we demonstrated that the global transcriptional factor IscR, co dependently with the master regulator of the DNA damage response, LexA, delays inductio...

journal_title：PLoS genetics

authors： Kamenšek S,Browning DF,Podlesek Z,Busby SJ,Žgur-Bertok D,Butala M

更新日期：2015-06-26 00:00:00

abstract：:Drosophila bithorax complex (BX-C) is one of the best model systems for studying the role of boundaries (insulators) in gene regulation. Expression of three homeotic genes, Ubx, abd-A, and Abd-B, is orchestrated by nine parasegment-specific regulatory domains. These domains are flanked by boundary elements, which func...

journal_title：PLoS genetics

authors： Postika N,Metzler M,Affolter M,Müller M,Schedl P,Georgiev P,Kyrchanova O

更新日期：2018-12-12 00:00:00

abstract：:Variation in DNA methylation is being increasingly associated with health and disease outcomes. Although DNA methylation is hypothesized to be a mechanism by which both genetic and non-genetic factors can influence the regulation of gene expression, little is known about the extent to which DNA methylation at specific...

journal_title：PLoS genetics

authors： Hannon E,Knox O,Sugden K,Burrage J,Wong CCY,Belsky DW,Corcoran DL,Arseneault L,Moffitt TE,Caspi A,Mill J

更新日期：2018-08-09 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：:Kidney function depends on the nephron, which comprises a blood filter, a tubule that is subdivided into functionally distinct segments, and a collecting duct. How these regions arise during development is poorly understood. The zebrafish pronephros consists of two linear nephrons that develop from the intermediate me...

journal_title：PLoS genetics

authors： Wingert RA,Selleck R,Yu J,Song HD,Chen Z,Song A,Zhou Y,Thisse B,Thisse C,McMahon AP,Davidson AJ

更新日期：2007-10-01 00:00:00

abstract：:Positive Transcription Elongation Factor b (P-TEFb) is a kinase consisting of Cdk9 and Cyclin T that releases RNA Polymerase II (Pol II) into active elongation. It can assemble into a larger Super Elongation Complex (SEC) consisting of additional elongation factors. Here, we use a miRNA-based approach to knock down th...

journal_title：PLoS genetics

authors： Dahlberg O,Shilkova O,Tang M,Holmqvist PH,Mannervik M

更新日期：2015-02-13 00:00:00

abstract：:The origin and evolution of new microRNAs (miRNAs) is important because they can impact the transcriptome broadly. As miRNAs can potentially emerge constantly and rapidly, their rates of birth and evolution have been extensively debated. However, most new miRNAs identified appear not to be biologically significant. Af...

journal_title：PLoS genetics

authors： Lyu Y,Shen Y,Li H,Chen Y,Guo L,Zhao Y,Hungate E,Shi S,Wu CI,Tang T

更新日期：2014-01-01 00:00:00

abstract：:Progesterone, via the progesterone receptor (PGR), is essential for endometrial stromal cell decidualization, a cellular transformation event in which stromal fibroblasts differentiate into decidual cells. Uterine decidualization supports embryo implantation and placentation as well as subsequent events, which togethe...

journal_title：PLoS genetics

authors： Kommagani R,Szwarc MM,Vasquez YM,Peavey MC,Mazur EC,Gibbons WE,Lanz RB,DeMayo FJ,Lydon JP

更新日期：2016-04-01 00:00:00