The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis.

abstract：:Recent studies of the HapMap lymphoblastoid cell lines have identified large numbers of quantitative trait loci for gene expression (eQTLs). Reanalyzing these data using a novel Bayesian hierarchical model, we were able to create a surprisingly high-resolution map of the typical locations of sites that affect mRNA lev...

journal_title：PLoS genetics

authors： Veyrieras JB,Kudaravalli S,Kim SY,Dermitzakis ET,Gilad Y,Stephens M,Pritchard JK

更新日期：2008-10-01 00:00:00

abstract：:The DREAM (Dp/Retinoblastoma(Rb)-like/E2F/MuvB) transcriptional repressor complex acts as a gatekeeper of the mammalian cell cycle by establishing and maintaining cellular quiescence. How DREAM's three functional components, the E2F-DP heterodimer, the Rb-like pocket protein, and the MuvB subcomplex, form and function...

journal_title：PLoS genetics

authors： Goetsch PD,Garrigues JM,Strome S

更新日期：2017-11-01 00:00:00

abstract：:To understand the genetic mechanisms leading to phenotypic differentiation, it is important to identify genomic regions under selection. We scanned the genome of two chicken lines from a single trait selection experiment, where 50 generations of selection have resulted in a 9-fold difference in body weight. Analyses o...

journal_title：PLoS genetics

authors： Johansson AM,Pettersson ME,Siegel PB,Carlborg O

更新日期：2010-11-04 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshi...

journal_title：PLoS genetics

authors： Rainger J,Keighren M,Keene DR,Charbonneau NL,Rainger JK,Fisher M,Mella S,Huang JT,Rose L,van't Hof R,Sakai LY,Jackson IJ,Fitzpatrick DR

更新日期：2013-01-01 00:00:00

abstract：:Cytotoxic T-lymphocyte associated protein 4 (CTLA4) is a negative regulator of T-cell proliferation. Polymorphisms in CTLA4 have been inconsistently associated with susceptibility to rheumatoid arthritis (RA) in populations of European ancestry but have not been examined in African Americans. The prevalence of RA in m...

journal_title：PLoS genetics

authors： Kelley JM,Hughes LB,Faggard JD,Danila MI,Crawford MH,Edberg Y,Padilla MA,Tiwari HK,Westfall AO,Alarcón GS,Conn DL,Jonas BL,Callahan LF,Smith EA,Brasington RD,Allison DB,Kimberly RP,Moreland LW,Edberg JC,Bridges SL J

更新日期：2009-03-01 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：:During the adaptive evolution of a particular trait, some selectively fixed mutations may be directly causative and others may be purely compensatory. The relative contribution of these two classes of mutation to adaptive phenotypic evolution depends on the form and prevalence of mutational pleiotropy. To investigate ...

journal_title：PLoS genetics

authors： Natarajan C,Jendroszek A,Kumar A,Weber RE,Tame JRH,Fago A,Storz JF

更新日期：2018-04-02 00:00:00

abstract：:Replication forks stall at different DNA obstacles such as those originated by transcription. Fork stalling can lead to DNA double-strand breaks (DSBs) that will be preferentially repaired by homologous recombination when the sister chromatid is available. The Rrm3 helicase is a replisome component that promotes repli...

journal_title：PLoS genetics

authors： Muñoz-Galván S,García-Rubio M,Ortega P,Ruiz JF,Jimeno S,Pardo B,Gómez-González B,Aguilera A

更新日期：2017-05-05 00:00:00

abstract：:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, ha...

journal_title：PLoS genetics

authors： Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

更新日期：2020-11-20 00:00:00

abstract：:The bacterium Neisseria meningitidis is commonly found harmlessly colonising the mucosal surfaces of the human nasopharynx. Occasionally strains can invade host tissues causing septicaemia and meningitis, making the bacterium a major cause of morbidity and mortality in both the developed and developing world. The spec...

journal_title：PLoS genetics

authors： Bentley SD,Vernikos GS,Snyder LA,Churcher C,Arrowsmith C,Chillingworth T,Cronin A,Davis PH,Holroyd NE,Jagels K,Maddison M,Moule S,Rabbinowitsch E,Sharp S,Unwin L,Whitehead S,Quail MA,Achtman M,Barrell B,Saunders NJ

更新日期：2007-02-16 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：:During meiotic prophase I, double-strand breaks (DSBs) initiate homologous recombination leading to non-crossovers (NCOs) and crossovers (COs). In mouse, 10% of DSBs are designated to become COs, primarily through a pathway dependent on the MLH1-MLH3 heterodimer (MutLγ). Mlh3 contains an endonuclease domain that is cr...

journal_title：PLoS genetics

authors： Toledo M,Sun X,Brieño-Enríquez MA,Raghavan V,Gray S,Pea J,Milano CR,Venkatesh A,Patel L,Borst PL,Alani E,Cohen PE

更新日期：2019-06-06 00:00:00

abstract：:Mycoplasmas are commonly described as the simplest self-replicating organisms, whose evolution was mainly characterized by genome downsizing with a proposed evolutionary scenario similar to that of obligate intracellular bacteria such as insect endosymbionts. Thus far, analysis of mycoplasma genomes indicates a low le...

journal_title：PLoS genetics

authors： Sirand-Pugnet P,Lartigue C,Marenda M,Jacob D,Barré A,Barbe V,Schenowitz C,Mangenot S,Couloux A,Segurens B,de Daruvar A,Blanchard A,Citti C

更新日期：2007-05-18 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of renal cysts that destroy the kidney. Mutations in PKD1 and PKD2, encoding polycystins-1 and -2, cause ADPKD. Polycystins are thought to function in primary cilia, but it is not well understood how these and other proteins are targete...

journal_title：PLoS genetics

authors： Fogelgren B,Lin SY,Zuo X,Jaffe KM,Park KM,Reichert RJ,Bell PD,Burdine RD,Lipschutz JH

更新日期：2011-04-01 00:00:00

abstract：:A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differenti...

journal_title：PLoS genetics

authors： Cole SW

更新日期：2014-08-28 00:00:00

abstract：:The molecular genetic mechanisms of sex determination are not known for most vertebrates, including zebrafish. We identified a mutation in the zebrafish fancl gene that causes homozygous mutants to develop as fertile males due to female-to-male sex reversal. Fancl is a member of the Fanconi Anemia/BRCA DNA repair path...

journal_title：PLoS genetics

authors： Rodríguez-Marí A,Cañestro C,Bremiller RA,Nguyen-Johnson A,Asakawa K,Kawakami K,Postlethwait JH

更新日期：2010-07-22 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：: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：:The lipopolysaccharide O-antigen structure expressed by the European Helicobacter pylori model strain G27 encompasses a trisaccharide, an intervening glucan-heptan and distal Lewis antigens that promote immune escape. However, several gaps still remain in the corresponding biosynthetic pathway. Here, systematic mutage...

journal_title：PLoS genetics

authors： Li H,Marceau M,Yang T,Liao T,Tang X,Hu R,Xie Y,Tang H,Tay A,Shi Y,Shen Y,Yang T,Pi X,Lamichhane B,Luo Y,Debowski AW,Nilsson HO,Haslam SM,Mulloy B,Dell A,Stubbs KA,Marshall BJ,Benghezal M

更新日期：2019-11-20 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：:Filamentous fungi produce diverse secondary metabolites (SMs) essential to their ecology and adaptation. Although each SM is typically produced by only a handful of species, global SM production is governed by widely conserved transcriptional regulators in conjunction with other cellular processes, such as development...

journal_title：PLoS genetics

authors： Lind AL,Wisecaver JH,Smith TD,Feng X,Calvo AM,Rokas A

更新日期：2015-03-18 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is an autoimmune disease with known genetic, epigenetic, and environmental risk factors. To assess the role of DNA methylation in SLE, we collected CD4+ T-cells, CD19+ B-cells, and CD14+ monocytes from 49 SLE patients and 58 controls, and performed genome-wide DNA methylation analysi...

journal_title：PLoS genetics

authors： Absher DM,Li X,Waite LL,Gibson A,Roberts K,Edberg J,Chatham WW,Kimberly RP

更新日期：2013-01-01 00:00:00

abstract：:Knowledge of biological relatedness between samples is important for many genetic studies. In large-scale human genetic association studies, the estimated kinship is used to remove cryptic relatedness, control for family structure, and estimate trait heritability. However, estimation of kinship is challenging for spar...

journal_title：PLoS genetics

authors： Dou J,Sun B,Sim X,Hughes JD,Reilly DF,Tai ES,Liu J,Wang C

更新日期：2017-09-29 00:00:00

abstract：:Nervous systems have the ability to select appropriate actions and action sequences in response to sensory cues. The circuit mechanisms by which nervous systems achieve choice, stability and transitions between behaviors are still incompletely understood. To identify neurons and brain areas involved in controlling the...

journal_title：PLoS genetics

authors： Masson JB,Laurent F,Cardona A,Barré C,Skatchkovsky N,Zlatic M,Jovanic T

更新日期：2020-02-14 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：:Multiple endocrine neoplasia type 2B (MEN2B) is a highly aggressive thyroid cancer syndrome. Since almost all sporadic cases are caused by the same nucleotide substitution in the RET proto-oncogene, the calculated disease incidence is 100-200 times greater than would be expected based on the genome average mutation fr...

journal_title：PLoS genetics

authors： Choi SK,Yoon SR,Calabrese P,Arnheim N

更新日期：2012-01-01 00:00:00

abstract：:Chromatin assembly mutants accumulate recombinogenic DNA damage and are sensitive to genotoxic agents. Here we have analyzed why impairment of the H3K56 acetylation-dependent CAF1 and Rtt106 chromatin assembly pathways, which have redundant roles in H3/H4 deposition during DNA replication, leads to genetic instability...

journal_title：PLoS genetics

authors： Clemente-Ruiz M,González-Prieto R,Prado F

更新日期：2011-11-01 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：:Cellular adaptation to stress is essential to ensure organismal survival. NRF2/NFE2L2 is a key determinant of xenobiotic stress responses, and loss of negative regulation by the KEAP1-CUL3 proteasome system is implicated in several chemo- and radiation-resistant cancers. Advantageously using C. elegans alongside human...

journal_title：PLoS genetics

authors： Lo JY,Spatola BN,Curran SP

更新日期：2017-04-28 00:00:00