A germline polymorphism of thymine DNA glycosylase induces genomic instability and cellular transformation.

abstract：:Sirtuins are NAD⁺-dependent deacetylases, lipoamidases, and ADP-ribosyltransferases that link cellular metabolism to multiple intracellular pathways that influence processes as diverse as cell survival, longevity, and cancer growth. Sirtuins influence the extent of neuronal death in stroke. However, different sirtuins...

journal_title：PLoS genetics

authors： Sangaletti R,D'Amico M,Grant J,Della-Morte D,Bianchi L

更新日期：2017-08-18 00:00:00

abstract：:Mollicutes is a class of parasitic bacteria that have evolved from a common Firmicutes ancestor mostly by massive genome reduction. With genomes under 1 Mbp in size, most Mollicutes species retain the capacity to replicate and grow autonomously. The major goal of this work was to identify the minimal set of proteins t...

journal_title：PLoS genetics

authors： Grosjean H,Breton M,Sirand-Pugnet P,Tardy F,Thiaucourt F,Citti C,Barré A,Yoshizawa S,Fourmy D,de Crécy-Lagard V,Blanchard A

更新日期：2014-05-08 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1007814.]. ...

journal_title：PLoS genetics

authors： Sun G,Elowsky C,Li G,Wilson RA

更新日期：2019-02-28 00:00:00

abstract：:Because of the stochastic way in which lineages sort during speciation, gene trees may differ in topology from each other and from species trees. Surprisingly, assuming that genetic lineages follow a coalescent model of within-species evolution, we find that for any species tree topology with five or more species, the...

journal_title：PLoS genetics

authors： Degnan JH,Rosenberg NA

更新日期：2006-05-01 00:00:00

abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 00:00:00

abstract：:In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations is not well known. Here, using massively parallel reporter assays, we...

journal_title：PLoS genetics

authors： Birnbaum RY,Patwardhan RP,Kim MJ,Findlay GM,Martin B,Zhao J,Bell RJ,Smith RP,Ku AA,Shendure J,Ahituv N

更新日期：2014-10-23 00:00:00

abstract：:Capsules allow bacteria to colonize novel environments, to withstand numerous stresses, and to resist antibiotics. Yet, even though genetic exchanges with other cells should be adaptive under such circumstances, it has been suggested that capsules lower the rates of homologous recombination and horizontal gene transfe...

journal_title：PLoS genetics

authors： Rendueles O,de Sousa JAM,Bernheim A,Touchon M,Rocha EPC

更新日期：2018-12-21 00:00:00

abstract：:North African populations are distinct from sub-Saharan Africans based on cultural, linguistic, and phenotypic attributes; however, the time and the extent of genetic divergence between populations north and south of the Sahara remain poorly understood. Here, we interrogate the multilayered history of North Africa by ...

journal_title：PLoS genetics

authors： Henn BM,Botigué LR,Gravel S,Wang W,Brisbin A,Byrnes JK,Fadhlaoui-Zid K,Zalloua PA,Moreno-Estrada A,Bertranpetit J,Bustamante CD,Comas D

更新日期：2012-01-01 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：:Histone modifiers are critical regulators of chromatin-based processes in eukaryotes. The histone methyltransferase Set1, a component of the Set1C/COMPASS complex, catalyzes the methylation at lysine 4 of histone H3 (H3K4me), a hallmark of euchromatin. Here, we show that the fission yeast Schizosaccharomyces pombe Set...

journal_title：PLoS genetics

authors： Mikheyeva IV,Grady PJ,Tamburini FB,Lorenz DR,Cam HP

更新日期：2014-10-30 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：: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：:Methylation of histone H3 lysine 4 (H3K4me) is an evolutionarily conserved modification whose role in the regulation of gene expression has been extensively studied. In contrast, the function of H3K4 acetylation (H3K4ac) has received little attention because of a lack of tools to separate its function from that of H3K...

journal_title：PLoS genetics

authors： Guillemette B,Drogaris P,Lin HH,Armstrong H,Hiragami-Hamada K,Imhof A,Bonneil E,Thibault P,Verreault A,Festenstein RJ

更新日期：2011-03-01 00:00:00

abstract：:Adaptive radiation is the rapid origination of multiple species from a single ancestor as the result of concurrent adaptation to disparate environments. This fundamental evolutionary process is considered to be responsible for the genesis of a great portion of the diversity of life. Bacteria have evolved enormous biol...

journal_title：PLoS genetics

authors： Engel P,Salzburger W,Liesch M,Chang CC,Maruyama S,Lanz C,Calteau A,Lajus A,Médigue C,Schuster SC,Dehio C

更新日期：2011-02-10 00:00:00

abstract：:A complex program of translational repression, mRNA localization, and translational activation ensures that Oskar (Osk) protein accumulates only at the posterior pole of the Drosophila oocyte. Inappropriate expression of Osk disrupts embryonic axial patterning, and is lethal. A key factor in translational repression i...

journal_title：PLoS genetics

authors： Kim G,Pai CI,Sato K,Person MD,Nakamura A,Macdonald PM

更新日期：2015-02-27 00:00:00

abstract：:The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we teste...

journal_title：PLoS genetics

authors： Vijai J,Kirchhoff T,Schrader KA,Brown J,Dutra-Clarke AV,Manschreck C,Hansen N,Rau-Murthy R,Sarrel K,Przybylo J,Shah S,Cheguri S,Stadler Z,Zhang L,Paltiel O,Ben-Yehuda D,Viale A,Portlock C,Straus D,Lipkin SM,Lacher

更新日期：2013-01-01 00:00:00

abstract：:Integration of genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) studies is needed to improve our understanding of the biological mechanisms underlying GWAS hits, and our ability to identify therapeutic targets. Gene-level association methods such as PrediXcan can prioritize candidat...

journal_title：PLoS genetics

authors： Barbeira AN,Pividori M,Zheng J,Wheeler HE,Nicolae DL,Im HK

更新日期：2019-01-22 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

abstract：:The exclusive localization of the histone H3 variant CENP-A to centromeres is essential for accurate chromosome segregation. Ubiquitin-mediated proteolysis helps to ensure that CENP-A does not mislocalize to euchromatin, which can lead to genomic instability. Consistent with this, overexpression of the budding yeast C...

journal_title：PLoS genetics

authors： Hildebrand EM,Biggins S

更新日期：2016-03-16 00:00:00

abstract：:During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...

journal_title：PLoS genetics

authors： Pattabiraman D,Roelens B,Woglar A,Villeneuve AM

更新日期：2017-03-24 00:00:00

abstract：:Genetic disruption of the dystrophin complex produces muscular dystrophy characterized by a fragile muscle plasma membrane leading to excessive muscle degeneration. Two genetic modifiers of Duchenne Muscular Dystrophy implicate the transforming growth factor β (TGFβ) pathway, osteopontin encoded by the SPP1 gene and l...

journal_title：PLoS genetics

authors： Quattrocelli M,Capote J,Ohiri JC,Warner JL,Vo AH,Earley JU,Hadhazy M,Demonbreun AR,Spencer MJ,McNally EM

更新日期：2017-10-24 00:00:00

abstract：:Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at ...

journal_title：PLoS genetics

authors： Becherel OJ,Yeo AJ,Stellati A,Heng EY,Luff J,Suraweera AM,Woods R,Fleming J,Carrie D,McKinney K,Xu X,Deng C,Lavin MF

更新日期：2013-04-01 00:00:00

abstract：:Phenotypes extracted from Electronic Health Records (EHRs) are increasingly prevalent in genetic studies. EHRs contain hundreds of distinct clinical laboratory test results, providing a trove of health data beyond diagnoses. Such lab data is complex and lacks a ubiquitous coding scheme, making it more challenging than...

journal_title：PLoS genetics

authors： Goldstein JA,Weinstock JS,Bastarache LA,Larach DB,Fritsche LG,Schmidt EM,Brummett CM,Kheterpal S,Abecasis GR,Denny JC,Zawistowski M

更新日期：2020-11-11 00:00:00

abstract：:Bacterial diversification is often observed, but underlying mechanisms are difficult to disentangle and remain generally unknown. Moreover, controlled diversification experiments in ecologically relevant environments are lacking. We studied bacterial diversification in the mammalian gut, one of the most complex bacter...

journal_title：PLoS genetics

authors： De Paepe M,Gaboriau-Routhiau V,Rainteau D,Rakotobe S,Taddei F,Cerf-Bensussan N

更新日期：2011-06-01 00:00:00

abstract：:Inter-individual variation in gene regulatory elements is hypothesized to play a causative role in adverse drug reactions and reduced drug activity. However, relatively little is known about the location and function of drug-dependent elements. To uncover drug-associated elements in a genome-wide manner, we performed ...

journal_title：PLoS genetics

authors： Smith RP,Eckalbar WL,Morrissey KM,Luizon MR,Hoffmann TJ,Sun X,Jones SL,Force Aldred S,Ramamoorthy A,Desta Z,Liu Y,Skaar TC,Trinklein ND,Giacomini KM,Ahituv N

更新日期：2014-10-02 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：: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：:Genetical genomics is a strategy for mapping gene expression variation to expression quantitative trait loci (eQTLs). We performed a genetical genomics experiment in four functionally distinct but developmentally closely related hematopoietic cell populations isolated from the BXD panel of recombinant inbred mouse str...

journal_title：PLoS genetics

authors： Gerrits A,Li Y,Tesson BM,Bystrykh LV,Weersing E,Ausema A,Dontje B,Wang X,Breitling R,Jansen RC,de Haan G

更新日期：2009-10-01 00:00:00

abstract：:Hexavalent chromium [Cr(VI)] damages DNA and causes cancer, but it is unclear which DNA damage responses (DDRs) most critically protect cells from chromate toxicity. Here, genome-wide quantitative functional profiling, DDR measurements and genetic interaction assays in Schizosaccharomyces pombe reveal a chromate toxic...

journal_title：PLoS genetics

authors： Ganguly A,Guo L,Sun L,Suo F,Du LL,Russell P

更新日期：2018-08-27 00:00:00

abstract：:MicroRNAs (miRNAs) play important roles in normal cellular differentiation and oncogenesis. microRNA93 (mir-93), a member of the mir106b-25 cluster, located in intron 13 of the MCM7 gene, although frequently overexpressed in human malignancies may also function as a tumor suppressor gene. Using a series of breast canc...

journal_title：PLoS genetics

authors： Liu S,Patel SH,Ginestier C,Ibarra I,Martin-Trevino R,Bai S,McDermott SP,Shang L,Ke J,Ou SJ,Heath A,Zhang KJ,Korkaya H,Clouthier SG,Charafe-Jauffret E,Birnbaum D,Hannon GJ,Wicha MS

更新日期：2012-01-01 00:00:00