Characterizing genetic and environmental influences on variable DNA methylation using monozygotic and dizygotic twins.

abstract：:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene de...

journal_title：PLoS genetics

authors： Radner FP,Marrakchi S,Kirchmeier P,Kim GJ,Ribierre F,Kamoun B,Abid L,Leipoldt M,Turki H,Schempp W,Heilig R,Lathrop M,Fischer J

更新日期：2013-06-01 00:00:00

abstract：:The number and distribution of crossover events are tightly regulated at prophase of meiosis I. The resolution of Holliday junctions by structure-specific endonucleases, including MUS-81, SLX-1, XPF-1 and GEN-1, is one of the main mechanisms proposed for crossover formation. However, how these nucleases coordinately r...

journal_title：PLoS genetics

authors： Saito TT,Lui DY,Kim HM,Meyer K,Colaiácovo MP

更新日期：2013-01-01 00:00:00

abstract：:Male mammals produce sperm for most of postnatal life and therefore require a robust germ line stem cell system, with precise balance between self-renewal and differentiation. Prior work established doublesex- and mab-3-related transcription factor 1 (Dmrt1) as a conserved transcriptional regulator of male sexual diff...

journal_title：PLoS genetics

authors： Zhang T,Oatley J,Bardwell VJ,Zarkower D

更新日期：2016-09-01 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：:Most Cryptococccus neoformans genes are interrupted by introns, and alternative splicing occurs very often. In this study, we examined the influence of introns on C. neoformans gene expression. For most tested genes, elimination of introns greatly reduces mRNA accumulation. Strikingly, the number and the position of i...

journal_title：PLoS genetics

authors： Goebels C,Thonn A,Gonzalez-Hilarion S,Rolland O,Moyrand F,Beilharz TH,Janbon G

更新日期：2013-01-01 00:00:00

abstract：:X-chromosome inactivation (XCI) in female lymphocytes is uniquely regulated, as the inactive X (Xi) chromosome lacks localized Xist RNA and heterochromatin modifications. Epigenetic profiling reveals that Xist RNA is lost from the Xi at the pro-B cell stage and that additional heterochromatic modifications are gradual...

journal_title：PLoS genetics

authors： Syrett CM,Sindhava V,Hodawadekar S,Myles A,Liang G,Zhang Y,Nandi S,Cancro M,Atchison M,Anguera MC

更新日期：2017-10-09 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：: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：: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：:Deletion of tumor suppressor genes in stromal fibroblasts induces epithelial cancer development, suggesting an important role of stroma in epithelial homoeostasis. However, the underlying mechanisms remain to be elucidated. Here we report that deletion of the gene encoding TGFβ receptor 2 (Tgfbr2) in the stromal fibro...

journal_title：PLoS genetics

authors： Achyut BR,Bader DA,Robles AI,Wangsa D,Harris CC,Ried T,Yang L

更新日期：2013-01-01 00:00:00

abstract：:Studies of synthetic, well-defined biomolecular systems can elucidate inherent capabilities that may be difficult to uncover in a native biological context. Here, we used a minimal, reconstituted translation system from Escherichia coli to identify efficient ribosome binding sites (RBSs) in an unbiased, high-throughpu...

journal_title：PLoS genetics

authors： Barendt PA,Shah NA,Barendt GA,Sarkar CA

更新日期：2012-01-01 00:00:00

abstract：:The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-function MNS1 mutations in...

journal_title：PLoS genetics

authors： Ta-Shma A,Hjeij R,Perles Z,Dougherty GW,Abu Zahira I,Letteboer SJF,Antony D,Darwish A,Mans DA,Spittler S,Edelbusch C,Cindrić S,Nöthe-Menchen T,Olbrich H,Stuhlmann F,Aprea I,Pennekamp P,Loges NT,Breuer O,Shaag A,Re

更新日期：2018-08-27 00:00:00

abstract：:Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk syncytial layer (YSL) to move lipids from yolk to growing tissues. Disruptions in B-lp produ...

journal_title：PLoS genetics

authors： Wilson MH,Rajan S,Danoff A,White RJ,Hensley MR,Quinlivan VH,Recacha R,Thierer JH,Tan FJ,Busch-Nentwich EM,Ruddock L,Hussain MM,Farber SA

更新日期：2020-08-06 00:00:00

abstract：:Genetic models of ribosome dysfunction show selective organ failure, highlighting a gap in our understanding of cell-type specific responses to translation insufficiency. Translation defects underlie a growing list of inherited and acquired cancer-predisposition syndromes referred to as ribosomopathies. We sought to i...

journal_title：PLoS genetics

authors： Tourlakis ME,Zhang S,Ball HL,Gandhi R,Liu H,Zhong J,Yuan JS,Guidos CJ,Durie PR,Rommens JM

更新日期：2015-06-09 00:00:00

abstract：:As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as cau...

journal_title：PLoS genetics

authors： Stewart C,Kural D,Strömberg MP,Walker JA,Konkel MK,Stütz AM,Urban AE,Grubert F,Lam HY,Lee WP,Busby M,Indap AR,Garrison E,Huff C,Xing J,Snyder MP,Jorde LB,Batzer MA,Korbel JO,Marth GT,1000 Genomes Project.

更新日期：2011-08-01 00:00:00

abstract：:Short insertions, deletions (INDELs) and larger structural variants have been increasingly employed in genetic association studies, but few improvements over SNP-based association have been reported. In order to understand why this might be the case, we analysed two publicly available datasets and observed that 63% of...

journal_title：PLoS genetics

authors： Song B,Mott R,Gan X

更新日期：2018-10-16 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：:Most of the somatic cells of adult metazoans, including mammals, do not undergo continuous cycles of replication. Instead, they are quiescent and devote most of their metabolic activity to gene expression. The mutagenic consequences of exposure to DNA-damaging agents are well documented, but less is known about the im...

journal_title：PLoS genetics

authors： Brégeon D,Peignon PA,Sarasin A

更新日期：2009-07-01 00:00:00

abstract：:Recent genome-wide meta-analyses identified 157 loci associated with cross-sectional lipid traits. Here we tested whether these loci associate (singly and in trait-specific genetic risk scores [GRS]) with longitudinal changes in total cholesterol (TC) and triglyceride (TG) levels in a population-based prospective coho...

journal_title：PLoS genetics

authors： Varga TV,Sonestedt E,Shungin D,Koivula RW,Hallmans G,Escher SA,Barroso I,Nilsson P,Melander O,Orho-Melander M,Renström F,Franks PW

更新日期：2014-06-12 00:00:00

abstract：:Diphthamide is a highly modified histidine residue in eukaryal translation elongation factor 2 (eEF2) that is the target for irreversible ADP ribosylation by diphtheria toxin (DT). In Saccharomyces cerevisiae, the initial steps of diphthamide biosynthesis are well characterized and require the DPH1-DPH5 genes. However...

journal_title：PLoS genetics

authors： Uthman S,Bär C,Scheidt V,Liu S,ten Have S,Giorgini F,Stark MJ,Schaffrath R

更新日期：2013-01-01 00:00:00

abstract：:Evolutionary outcomes depend not only on the selective forces acting upon a species, but also on the genetic background. However, large timescales and uncertain historical selection pressures can make it difficult to discern such important background differences between species. Experimental evolution is one tool to c...

journal_title：PLoS genetics

authors： Sanchez MR,Miller AW,Liachko I,Sunshine AB,Lynch B,Huang M,Alcantara E,DeSevo CG,Pai DA,Tucker CM,Hoang ML,Dunham MJ

更新日期：2017-02-14 00:00:00

abstract：:Both anatomically modern humans and the gastric pathogen Helicobacter pylori originated in Africa, and both species have been associated for at least 100,000 years. Seven geographically distinct H. pylori populations exist, three of which are indigenous to Africa: hpAfrica1, hpAfrica2, and hpNEAfrica. The oldest and m...

journal_title：PLoS genetics

authors： Nell S,Eibach D,Montano V,Maady A,Nkwescheu A,Siri J,Elamin WF,Falush D,Linz B,Achtman M,Moodley Y,Suerbaum S

更新日期：2013-01-01 00:00:00

abstract：:The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

journal_title：PLoS genetics

authors： Seoighe C,Scally A

更新日期：2017-01-17 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：:The Hippo pathway regulates organ size, stem cell proliferation and tumorigenesis in adult organs. Whether the Hippo pathway influences establishment of stem cell niche size to accommodate changes in organ size, however, has received little attention. Here, we ask whether Hippo signaling influences the number of stem ...

journal_title：PLoS genetics

authors： Sarikaya DP,Extavour CG

更新日期：2015-02-02 00:00:00

abstract：:Sister centromere fusion is a process unique to meiosis that promotes co-orientation of the sister kinetochores, ensuring they attach to microtubules from the same pole during metaphase I. We have found that the kinetochore protein SPC105R/KNL1 and Protein Phosphatase 1 (PP1-87B) regulate sister centromere fusion in D...

journal_title：PLoS genetics

authors： Wang LI,Das A,McKim KS

更新日期：2019-05-31 00:00:00

abstract：:Gene expression responds to changes in conditions but also stochastically among individuals. In budding yeast, both expression responsiveness across conditions ("plasticity") and cell-to-cell variation ("noise") have been quantified for thousands of genes and found to correlate across genes. It has been argued therefo...

journal_title：PLoS genetics

authors： Lehner B

更新日期：2010-11-04 00:00:00

abstract：:XRN2 is a conserved 5'→3' exoribonuclease that complexes with proteins that contain XRN2-binding domains (XTBDs). In Caenorhabditis elegans (C. elegans), the XTBD-protein PAXT-1 stabilizes XRN2 to retain its activity. XRN2 activity is also promoted by 3'(2'),5'-bisphosphate nucleotidase 1 (BPNT1) through hydrolysis of...

journal_title：PLoS genetics

authors： Miki TS,Carl SH,Stadler MB,Großhans H

更新日期：2016-09-15 00:00:00

abstract：:Microbial populations founded by a single clone and propagated under resource limitation can become polymorphic. We sought to elucidate genetic mechanisms whereby a polymorphism evolved in Escherichia coli under glucose limitation and persisted because of cross-feeding among multiple adaptive clones. Apart from a 29 k...

journal_title：PLoS genetics

authors： Kinnersley MA,Holben WE,Rosenzweig F

更新日期：2009-11-01 00:00:00

abstract：:Mitotic divisions depend on the timely assembly and proper orientation of the mitotic spindle. Malfunctioning of these processes can considerably delay mitosis, thereby compromising tissue growth and homeostasis, and leading to chromosomal instability. Loss of functional Mms19 drastically affects the growth and develo...

journal_title：PLoS genetics

authors： Chippalkatti R,Egger B,Suter B

更新日期：2020-11-19 00:00:00