Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.

abstract：:Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...

journal_title：PLoS genetics

authors： Bhatnagar SR,Yang Y,Lu T,Schurr E,Loredo-Osti JC,Forest M,Oualkacha K,Greenwood CMT

更新日期：2020-05-04 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：:Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...

journal_title：PLoS genetics

authors： Mulderrig L,Garaycoechea JI

更新日期：2020-04-09 00:00:00

abstract：:UTX (KDM6A) and UTY are homologous X and Y chromosome members of the Histone H3 Lysine 27 (H3K27) demethylase gene family. UTX can demethylate H3K27; however, in vitro assays suggest that human UTY has lost enzymatic activity due to sequence divergence. We produced mouse mutations in both Utx and Uty. Homozygous Utx m...

journal_title：PLoS genetics

authors： Shpargel KB,Sengoku T,Yokoyama S,Magnuson T

更新日期：2012-09-01 00:00:00

abstract：:In metazoans, apoptotic cells are swiftly engulfed by phagocytes and degraded inside phagosomes. Multiple small GTPases in the Rab family are known to function in phagosome maturation by regulating vesicle trafficking. We discovered rab-35 as a new gene important for apoptotic cell clearance from a genetic screen targ...

journal_title：PLoS genetics

authors： Haley R,Wang Y,Zhou Z

更新日期：2018-08-23 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：:A fundamental step in the evolution of the visual system is the gene duplication of visual opsins and differentiation between the duplicates in absorption spectra and expression pattern in the retina. However, our understanding of the mechanism of expression differentiation is far behind that of spectral tuning of ops...

journal_title：PLoS genetics

authors： Tsujimura T,Hosoya T,Kawamura S

更新日期：2010-12-16 00:00:00

abstract：:Mating-type switching is a complex mechanism that promotes sexual reproduction in Saccharomycotina. In the model species Saccharomyces cerevisiae, mating-type switching is initiated by the Ho endonuclease that performs a site-specific double-strand break (DSB) at MAT, repaired by homologous recombination (HR) using on...

journal_title：PLoS genetics

authors： Maroc L,Zhou-Li Y,Boisnard S,Fairhead C

更新日期：2020-10-15 00:00:00

abstract：:Diet is a crucial determinant of organismal biology; interactions between the host, its diet, and its microbiota are critical to determining the health of an organism. A variety of genetic and biochemical means were used to assay stress sensitivity in C. elegans reared on two standard laboratory diets: E. coli OP50, t...

journal_title：PLoS genetics

authors： Revtovich AV,Lee R,Kirienko NV

更新日期：2019-03-13 00:00:00

abstract：:Sexual development is a key evolutionary innovation of eukaryotes. In many species, mating involves interaction between compatible mating partners that can undergo cell and nuclear fusion and subsequent steps of development including meiosis. Mating compatibility in fungi is governed by the mating type (MAT) loci. In ...

journal_title：PLoS genetics

authors： Sun S,Coelho MA,Heitman J,Nowrousian M

更新日期：2019-09-06 00:00:00

abstract：:The molecular mechanisms of animal cell osmoregulation are poorly understood. Genetic studies of osmoregulation in yeast have identified mucin-like proteins as critical regulators of osmosensitive signaling and gene expression. Whether mucins play similar roles in higher organisms is not known. Here, we show that muta...

journal_title：PLoS genetics

authors： Rohlfing AK,Miteva Y,Moronetti L,He L,Lamitina T

更新日期：2011-01-06 00:00:00

abstract：:Efficient adaptation to iron starvation is an essential virulence determinant of the most common human mold pathogen, Aspergillus fumigatus. Here, we demonstrate that the cytosolic monothiol glutaredoxin GrxD plays an essential role in iron sensing in this fungus. Our studies revealed that (i) GrxD is essential for gr...

journal_title：PLoS genetics

authors： Misslinger M,Scheven MT,Hortschansky P,López-Berges MS,Heiss K,Beckmann N,Heigl T,Hermann M,Krüger T,Kniemeyer O,Brakhage AA,Haas H

更新日期：2019-09-16 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1008367.]. ...

journal_title：PLoS genetics

authors： Baker RL,Leong WF,Brock MT,Rubin MJ,Markelz RJC,Welch S,Maloof JN,Weinig C

更新日期：2020-10-08 00:00:00

abstract：:Aneuploidy refers to losses and/or gains of individual chromosomes from the normal chromosome set. The resulting gene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndrome in humans, and by human solid tumor cells, which are highly aneuploid. Although...

journal_title：PLoS genetics

authors： Huettel B,Kreil DP,Matzke M,Matzke AJ

更新日期：2008-10-01 00:00:00

abstract：:Undifferentiated embryonal sarcoma of the liver (UESL) is a rare and aggressive malignancy. Though the molecular underpinnings of this cancer have been largely unexplored, recurrent chromosomal breakpoints affecting a noncoding region on chr19q13, which includes the chromosome 19 microRNA cluster (C19MC), have been re...

journal_title：PLoS genetics

authors： Setty BA,Jinesh GG,Arnold M,Pettersson F,Cheng CH,Cen L,Yoder SJ,Teer JK,Flores ER,Reed DR,Brohl AS

更新日期：2020-04-20 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 Rif1 protein is a negative regulator of DNA replication initiation in eukaryotes. Here we show that budding yeast Rif1 inhibits DNA replication initiation at the rDNA locus. Absence of Rif1, or disruption of its interaction with PP1/Glc7 phosphatase, leads to more intensive rDNA replication. The effect of Rif1-Glc...

journal_title：PLoS genetics

authors： Shyian M,Mattarocci S,Albert B,Hafner L,Lezaja A,Costanzo M,Boone C,Shore D

更新日期：2016-11-07 00:00:00

abstract：:Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...

journal_title：PLoS genetics

authors： Eberle MA,Rieder MJ,Kruglyak L,Nickerson DA

更新日期：2006-09-08 00:00:00

abstract：:Blood vessels are vital to sustain life in all vertebrates. While it is known that mural cells (pericytes and smooth muscle cells) regulate vascular integrity, the contribution of other cell types to vascular stabilization has been largely unexplored. Using zebrafish, we identified sclerotome-derived perivascular fibr...

journal_title：PLoS genetics

authors： Rajan AM,Ma RC,Kocha KM,Zhang DJ,Huang P

更新日期：2020-10-26 00:00:00

abstract：:Determining how facultative anaerobic organisms sense and direct cellular responses to electron acceptor availability has been a subject of intense study. However, even in the model organism Escherichia coli, established mechanisms only explain a small fraction of the hundreds of genes that are regulated during electr...

journal_title：PLoS genetics

authors： Federowicz S,Kim D,Ebrahim A,Lerman J,Nagarajan H,Cho BK,Zengler K,Palsson B

更新日期：2014-04-03 00:00:00

abstract：:Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional info...

journal_title：PLoS genetics

authors： Dong X,Su YR,Barfield R,Bien SA,He Q,Harrison TA,Huyghe JR,Keku TO,Lindor NM,Schafmayer C,Chan AT,Gruber SB,Jenkins MA,Kooperberg C,Peters U,Hsu L

更新日期：2020-08-24 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：:In many insects, the accessory gland, a secretory tissue of the male reproductive system, is essential for male fertility. Male accessory gland is the major source of proteinaceous secretions, collectively called as seminal proteins (or accessory gland proteins), which upon transfer, manipulate the physiology and beha...

journal_title：PLoS genetics

authors： Sharma V,Pandey AK,Kumar A,Misra S,Gupta HPK,Gupta S,Singh A,Buehner NA,Ravi Ram K

更新日期：2017-05-11 00:00:00

abstract：:DNA mismatch repair greatly increases genome fidelity by recognizing and removing replication errors. In order to understand how this fidelity is maintained, it is important to uncover the relative specificities of the different components of mismatch repair. There are two major mispair recognition complexes in eukary...

journal_title：PLoS genetics

authors： Romanova NV,Crouse GF

更新日期：2013-10-01 00:00:00

abstract：:ATM and ATR are two redundant checkpoint kinases essential for the stable maintenance of telomeres in eukaryotes. Previous studies have established that MRN (Mre11-Rad50-Nbs1) and ATRIP (ATR Interacting Protein) interact with ATM and ATR, respectively, and recruit their partner kinases to sites of DNA damage. Here, we...

journal_title：PLoS genetics

authors： Subramanian L,Nakamura TM

更新日期：2010-02-05 00:00:00

abstract：:Heteromorphic sex-determining regions or mating-type loci can contain large regions of non-recombining sequence where selection operates under different constraints than in freely recombining autosomal regions. Detailed studies of these non-recombining regions can provide insights into how genes are gained and lost, a...

journal_title：PLoS genetics

authors： De Hoff PL,Ferris P,Olson BJ,Miyagi A,Geng S,Umen JG

更新日期：2013-08-01 00:00:00

abstract：:Hydrolysis of ATP by partition ATPases, although considered a key step in the segregation mechanism that assures stable inheritance of plasmids, is intrinsically very weak. The cognate centromere-binding protein (CBP), together with DNA, stimulates the ATPase to hydrolyse ATP and to undertake the relocation that incit...

journal_title：PLoS genetics

authors： Ah-Seng Y,Rech J,Lane D,Bouet JY

更新日期：2013-01-01 00:00:00

abstract：:The phenotypic heterogeneity that characterizes human cancers reflects the enormous genetic complexity of the oncogenic process. This complexity can also be seen in mouse models where it is frequently observed that in addition to the initiating genetic alteration, the resulting tumor harbors additional, somatically ac...

journal_title：PLoS genetics

authors： Rempel RE,Mori S,Gasparetto M,Glozak MA,Andrechek ER,Adler SB,Laakso NM,Lagoo AS,Storms R,Smith C,Nevins JR

更新日期：2009-09-01 00:00:00

abstract：:Recently, Wu and colleagues [1] proposed two novel statistics for genome-wide interaction analysis using case/control or case-only data. In computer simulations, their proposed case/control statistic outperformed competing approaches, including the fast-epistasis option in PLINK and logistic regression analysis under ...

journal_title：PLoS genetics

authors： Ueki M,Cordell HJ

更新日期：2012-01-01 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