Sex reversal in zebrafish fancl mutants is caused by Tp53-mediated germ cell apoptosis.

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：:In the oocytes of many animals including humans, the meiotic spindle assembles without centrosomes. It is still unclear how multiple pathways contribute to spindle microtubule assembly, and whether they are regulated differently in mitosis and meiosis. Augmin is a γ-tubulin recruiting complex which "amplifies" spindle...

journal_title：PLoS genetics

authors： Colombié N,Głuszek AA,Meireles AM,Ohkura H

更新日期：2013-06-01 00:00:00

abstract：:Pathological aggregates of phosphorylated TDP-43 characterize amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), two devastating groups of neurodegenerative disease. Kinase hyperactivity may be a consistent feature of ALS and FTLD-TDP, as phosphorylated TDP-43 is not observed in the ...

journal_title：PLoS genetics

authors： Liachko NF,McMillan PJ,Strovas TJ,Loomis E,Greenup L,Murrell JR,Ghetti B,Raskind MA,Montine TJ,Bird TD,Leverenz JB,Kraemer BC

更新日期：2014-12-04 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

abstract：:Regenerative processes are critical to maintain tissue homeostasis in high-turnover tissues. At the same time, proliferation of stem and progenitor cells has to be carefully controlled to prevent hyper-proliferative diseases. Mechanisms that ensure this balance, thus promoting proliferative homeostasis, are expected t...

journal_title：PLoS genetics

authors： Biteau B,Karpac J,Supoyo S,Degennaro M,Lehmann R,Jasper H

更新日期：2010-10-14 00:00:00

abstract：:The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...

journal_title：PLoS genetics

authors： Jadaliha M,Gholamalamdari O,Tang W,Zhang Y,Petracovici A,Hao Q,Tariq A,Kim TG,Holton SE,Singh DK,Li XL,Freier SM,Ambs S,Bhargava R,Lal A,Prasanth SG,Ma J,Prasanth KV

更新日期：2018-11-29 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：:The extent that both positive and negative selection vary across different portions of plant genomes remains poorly understood. Here, we sequence whole genomes of 13 Capsella grandiflora individuals and quantify the amount of selection across the genome. Using an estimate of the distribution of fitness effects, we sho...

journal_title：PLoS genetics

authors： Williamson RJ,Josephs EB,Platts AE,Hazzouri KM,Haudry A,Blanchette M,Wright SI

更新日期：2014-09-25 00:00:00

abstract：:Genetic variants in genome-wide association studies (GWAS) are tested for disease association mostly using simple regression, one variant at a time. Standard approaches to improve power in detecting disease-associated SNPs use multiple regression with Bayesian variable selection in which a sparsity-enforcing prior on ...

journal_title：PLoS genetics

authors： Banerjee S,Zeng L,Schunkert H,Söding J

更新日期：2018-12-31 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：:Aging in Caenorhabditis elegans is characterized by widespread physiological and molecular changes, but the mechanisms that determine the rate at which these changes occur are not well understood. In this study, we identify a novel link between reproductive aging and somatic aging in C. elegans. By measuring global ag...

journal_title：PLoS genetics

authors： Zimmerman SM,Hinkson IV,Elias JE,Kim SK

更新日期：2015-12-11 00:00:00

abstract：:DNA interstrand crosslinks (ICLs) are among the most toxic types of damage to a cell. For this reason, many ICL-inducing agents are effective therapeutic agents. For example, cisplatin and nitrogen mustards are used for treating cancer and psoralen plus UVA (PUVA) is useful for treating psoriasis. However, repair mech...

journal_title：PLoS genetics

authors： Wu Q,Vasquez KM

更新日期：2008-09-12 00:00:00

abstract：:Genome integrity depends on correct chromosome segregation, which in turn relies on cohesion between sister chromatids from S phase until anaphase. S phase cohesion, together with DNA double-strand break (DSB) recruitment of cohesin and formation of damage-induced (DI) cohesion, has previously been shown to be require...

journal_title：PLoS genetics

authors： Enervald E,Lindgren E,Katou Y,Shirahige K,Ström L

更新日期：2013-01-01 00:00:00

abstract：:Bases within DNA are frequently damaged, producing obstacles to efficient and accurate DNA replication by replicative polymerases. Translesion synthesis (TLS) polymerases, via their ability to catalyze nucleotide additions to growing DNA chains across DNA lesions, promote replication of damaged DNA, thus preventing ch...

journal_title：PLoS genetics

authors： van Bostelen I,van Schendel R,Romeijn R,Tijsterman M

更新日期：2020-04-24 00:00:00

abstract：:Vegetative phase change is regulated by a decrease in the abundance of the miRNAs, miR156 and miR157, and the resulting increase in the expression of their targets, SQUAMOSA PROMOTER BINDING PROTEIN-LIKE (SPL) transcription factors. To determine how miR156/miR157 specify the quantitative and qualitative changes in lea...

journal_title：PLoS genetics

authors： He J,Xu M,Willmann MR,McCormick K,Hu T,Yang L,Starker CG,Voytas DF,Meyers BC,Poethig RS

更新日期：2018-04-19 00:00:00

abstract：:DNA methyltransferases are ubiquitous enzymes conserved in bacteria, plants and opisthokonta. These enzymes, which methylate cytosines, are involved in numerous biological processes, notably development. In mammals and higher plants, methylation patterns established and maintained by the cytosine DNA methyltransferase...

journal_title：PLoS genetics

authors： Grognet P,Timpano H,Carlier F,Aït-Benkhali J,Berteaux-Lecellier V,Debuchy R,Bidard F,Malagnac F

更新日期：2019-08-14 00:00:00

abstract：:One of the most powerful techniques for studying the function of a gene is to disrupt the expression of that gene using genetic engineering strategies such as targeted recombination or viral integration of gene trap cassettes. The tremendous utility of these tools was recognized this year with the awarding of the Nobe...

journal_title：PLoS genetics

authors： Osokine I,Hsu R,Loeb GB,McManus MT

更新日期：2008-02-01 00:00:00

abstract：:Quantitative genetic analysis has long been used to study how natural variation of genotype can influence an organism's phenotype. While most studies have focused on genetic determinants of phenotypic average, it is rapidly becoming understood that stochastic noise is genetically determined. However, it is not known h...

journal_title：PLoS genetics

authors： Jimenez-Gomez JM,Corwin JA,Joseph B,Maloof JN,Kliebenstein DJ

更新日期：2011-09-01 00:00:00

abstract：:Target of Rapamycin (TOR) signalling allows eukaryotic cells to adjust cell growth in response to changes in their nutritional and environmental context. The two distinct TOR complexes (TORC1/2) localise to the cell's internal membrane compartments; the endoplasmic reticulum (ER), Golgi apparatus and lysosomes/vacuole...

journal_title：PLoS genetics

authors： Kowalczyk KM,Petersen J

更新日期：2016-05-18 00:00:00

abstract：:The mechanism of circadian oscillations in mammals is cell autonomous and is generated by a set of genes that form a transcriptional autoregulatory feedback loop. While these "clock genes" are well conserved among animals, their specific functions remain to be fully understood and their roles in central versus periphe...

journal_title：PLoS genetics

authors： Hong HK,Chong JL,Song W,Song EJ,Jyawook AA,Schook AC,Ko CH,Takahashi JS

更新日期：2007-02-23 00:00:00

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:New systems genetics approaches are needed to rapidly identify host genes and genetic networks that regulate complex disease outcomes. Using genetically diverse animals from incipient lines of the Collaborative Cross mouse panel, we demonstrate a greatly expanded range of phenotypes relative to classical mouse models ...

journal_title：PLoS genetics

authors： Gralinski LE,Ferris MT,Aylor DL,Whitmore AC,Green R,Frieman MB,Deming D,Menachery VD,Miller DR,Buus RJ,Bell TA,Churchill GA,Threadgill DW,Katze MG,McMillan L,Valdar W,Heise MT,Pardo-Manuel de Villena F,Baric RS

更新日期：2015-10-09 00:00:00

abstract：:In metazoan germlines, the piRNA pathway acts as a genomic immune system, employing small RNA-mediated silencing to defend host DNA from the harmful effects of transposable elements (TEs). Expression of genomic TEs is proposed to initiate self regulation by increasing the production of repressive piRNAs, thereby "adap...

journal_title：PLoS genetics

authors： Wang L,Barbash DA,Kelleher ES

更新日期：2020-06-11 00:00:00

abstract：:The phenotypic outcome of a mutation cannot be simply mapped onto the underlying DNA variant. Instead, the phenotype is a function of the allele, the genetic background in which it occurs and the environment where the mutational effects are expressed. While the influence of genetic background on the expressivity of in...

journal_title：PLoS genetics

authors： Chari S,Dworkin I

更新日期：2013-01-01 00:00:00

abstract：:Mitochondrial DNA (mtDNA) encodes proteins essential for ATP production. Mutant variants of the mtDNA polymerase cause mutagenesis that contributes to aging, genetic diseases, and sensitivity to environmental agents. We interrogated mtDNA replication in Saccharomyces cerevisiae strains with disease-associated mutation...

journal_title：PLoS genetics

authors： Stumpf JD,Copeland WC

更新日期：2014-10-23 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：:Genome-wide association studies (GWAS) have identified >500 common variants associated with quantitative metabolic traits, but in aggregate such variants explain at most 20-30% of the heritable component of population variation in these traits. To further investigate the impact of genotypic variation on metabolic trai...

journal_title：PLoS genetics

authors： Service SK,Teslovich TM,Fuchsberger C,Ramensky V,Yajnik P,Koboldt DC,Larson DE,Zhang Q,Lin L,Welch R,Ding L,McLellan MD,O'Laughlin M,Fronick C,Fulton LL,Magrini V,Swift A,Elliott P,Jarvelin MR,Kaakinen M,McCarthy

更新日期：2014-01-30 00:00:00

abstract：:Genome-wide transcription start site (TSS) profiles of the enterobacteria Escherichia coli and Klebsiella pneumoniae were experimentally determined through modified 5' RACE followed by deep sequencing of intact primary mRNA. This identified 3,746 and 3,143 TSSs for E. coli and K. pneumoniae, respectively. Experimental...

journal_title：PLoS genetics

authors： Kim D,Hong JS,Qiu Y,Nagarajan H,Seo JH,Cho BK,Tsai SF,Palsson BØ

更新日期：2012-01-01 00:00:00

abstract：:The contribution of MEF2 TFs to the tumorigenic process is still mysterious. Here we clarify that MEF2 can support both pro-oncogenic or tumor suppressive activities depending on the interaction with co-activators or co-repressors partners. Through these interactions MEF2 supervise histone modifications associated wit...

journal_title：PLoS genetics

authors： Di Giorgio E,Franforte E,Cefalù S,Rossi S,Dei Tos AP,Brenca M,Polano M,Maestro R,Paluvai H,Picco R,Brancolini C

更新日期：2017-04-18 00:00:00

abstract：:The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11....

journal_title：PLoS genetics

authors： Lacaria M,Saha P,Potocki L,Bi W,Yan J,Girirajan S,Burns B,Elsea S,Walz K,Chan L,Lupski JR,Gu W

更新日期：2012-01-01 00:00:00