Transcriptome wide annotation of eukaryotic RNase III reactivity and degradation signals.

abstract：:The Rhox cluster on the mouse X chromosome contains reproduction-related homeobox genes expressed in a sexually dimorphic manner. We report that two members of the Rhox cluster, Rhox6 and 9, are regulated by de-methylation of histone H3 at lysine 27 by KDM6A, a histone demethylase with female-biased expression. Consis...

journal_title：PLoS genetics

authors： Berletch JB,Deng X,Nguyen DK,Disteche CM

更新日期：2013-05-01 00:00:00

abstract：:Disruption of gene regulation by sequence variation in non-coding regions of the genome is now recognised as a significant cause of human disease and disease susceptibility. Sequence variants in cis-regulatory elements (CREs), the primary determinants of spatio-temporal gene regulation, can alter transcription factor ...

journal_title：PLoS genetics

authors： Bhatia S,Gordon CT,Foster RG,Melin L,Abadie V,Baujat G,Vazquez MP,Amiel J,Lyonnet S,van Heyningen V,Kleinjan DA

更新日期：2015-06-01 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：:Lethal recessive alleles cause pre- or postnatal death in homozygous affected individuals, reducing fertility. Especially in small size domestic and wild populations, those alleles might be exposed by inbreeding, caused by matings between related parents that inherited the same recessive lethal allele from a common an...

journal_title：PLoS genetics

authors： Derks MFL,Gjuvsland AB,Bosse M,Lopes MS,van Son M,Harlizius B,Tan BF,Hamland H,Grindflek E,Groenen MAM,Megens HJ

更新日期：2019-03-15 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：:Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of del...

journal_title：PLoS genetics

authors： MacArthur JA,Spector TD,Lindsay SJ,Mangino M,Gill R,Small KS,Hurles ME

更新日期：2014-03-06 00:00:00

abstract：:The genetic origin of human skin pigmentation remains an open question in biology. Several skin disorders and diseases originate from mutations in conserved pigmentation genes, including albinism, vitiligo, and melanoma. Teleosts possess the capacity to modify their pigmentation to adapt to their environmental backgro...

journal_title：PLoS genetics

authors： Madelaine R,Ngo KJ,Skariah G,Mourrain P

更新日期：2020-12-10 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：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 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：:Elongator complex is required for formation of the side chains at position 5 of modified nucleosides 5-carbamoylmethyluridine (ncm⁵U₃₄), 5-methoxycarbonylmethyluridine (mcm⁵U₃₄), and 5-methoxycarbonylmethyl-2-thiouridine (mcm⁵s²U₃₄) at wobble position in tRNA. These modified nucleosides are important for efficient dec...

journal_title：PLoS genetics

authors： Chen C,Huang B,Eliasson M,Rydén P,Byström AS

更新日期：2011-09-01 00:00:00

abstract：:Zn²(+)-finger proteins comprise one of the largest protein superfamilies with diverse biological functions. The ATM substrate Chk2-interacting Zn²(+)-finger protein (ASCIZ; also known as ATMIN and ZNF822) was originally linked to functions in the DNA base damage response and has also been proposed to be an essential c...

journal_title：PLoS genetics

authors： Jurado S,Smyth I,van Denderen B,Tenis N,Hammet A,Hewitt K,Ng JL,McNees CJ,Kozlov SV,Oka H,Kobayashi M,Conlan LA,Cole TJ,Yamamoto K,Taniguchi Y,Takeda S,Lavin MF,Heierhorst J

更新日期：2010-10-21 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：:DNA sequence polymorphism in a regulatory protein can have a widespread transcriptional effect. Here we present a computational approach for analyzing modules of genes with a common regulation that are affected by specific DNA polymorphisms. We identify such regulatory-linkage modules by integrating genotypic and expr...

journal_title：PLoS genetics

authors： Gat-Viks I,Meller R,Kupiec M,Shamir R

更新日期：2010-01-01 00:00:00

abstract：:The genome of the fission yeast Schizosaccharomyces pombe encodes 17 kinases that are essential for cell growth. These include the cell-cycle regulator Cdc2, as well as several kinases that coordinate cell growth, polarity, and morphogenesis during the cell cycle. In this study, we further characterized another of the...

journal_title：PLoS genetics

authors： Eckert D,Andrée N,Razanau A,Zock-Emmenthal S,Lützelberger M,Plath S,Schmidt H,Guerra-Moreno A,Cozzuto L,Ayté J,Käufer NF

更新日期：2016-01-05 00:00:00

abstract：:While the molecular mechanisms of glucocorticoid regulation of transcription have been studied in detail, the global networks regulated by the glucocorticoid receptor (GR) remain unknown. To address this question, we performed an orthogonal analysis to identify direct targets of the GR. First, we analyzed the expressi...

journal_title：PLoS genetics

authors： Phuc Le P,Friedman JR,Schug J,Brestelli JE,Parker JB,Bochkis IM,Kaestner KH

更新日期：2005-08-01 00:00:00

abstract：:Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D ...

journal_title：PLoS genetics

authors： Shaffer JR,Orlova E,Lee MK,Leslie EJ,Raffensperger ZD,Heike CL,Cunningham ML,Hecht JT,Kau CH,Nidey NL,Moreno LM,Wehby GL,Murray JC,Laurie CA,Laurie CC,Cole J,Ferrara T,Santorico S,Klein O,Mio W,Feingold E,Hallgr

更新日期：2016-08-25 00:00:00

abstract：:The cooperative developmental system of the social amoeba Dictyostelium discoideum is susceptible to exploitation by cheaters-strains that make more than their fair share of spores in chimerae. Laboratory screens in Dictyostelium have shown that the genetic potential for facultative cheating is high, and field surveys...

journal_title：PLoS genetics

authors： Khare A,Shaulsky G

更新日期：2010-02-26 00:00:00

abstract：:Riboviruses (RNA viruses without DNA replication intermediates) are the most abundant pathogens infecting animals and plants. Only a few riboviral infections can be controlled with antiviral drugs, mainly because of the rapid appearance of resistance mutations. Little reliable information is available concerning i) ki...

journal_title：PLoS genetics

authors： García-Villada L,Drake JW

更新日期：2012-01-01 00:00:00

abstract：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 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：:Identifying regions of positive selection in genomic data remains a challenge in population genetics. Most current approaches rely on comparing values of summary statistics calculated in windows. We present an approach termed SURFDAWave, which translates measures of genetic diversity calculated in genomic windows to f...

journal_title：PLoS genetics

authors： Mughal MR,Koch H,Huang J,Chiaromonte F,DeGiorgio M

更新日期：2020-08-27 00:00:00

abstract：:DNA damage observed during plant immune responses is reported to be an intrinsic component of plant immunity. However, other immune responses may suppress DNA damage to maintain host genome integrity. Here, we show that immunity-related DNA damage can be abrogated by preventing cell death triggered by Nucleotide-bindi...

journal_title：PLoS genetics

authors： Rodriguez E,Chevalier J,El Ghoul H,Voldum-Clausen K,Mundy J,Petersen M

更新日期：2018-02-20 00:00:00

abstract：:Nrf2, a transcriptional activator of cell protection genes, is an attractive therapeutic target for the prevention of neurodegenerative diseases, including Alzheimer's disease (AD). Current Nrf2 activators, however, may exert toxicity and pathway over-activation can induce detrimental effects. An understanding of the ...

journal_title：PLoS genetics

authors： Kerr F,Sofola-Adesakin O,Ivanov DK,Gatliff J,Gomez Perez-Nievas B,Bertrand HC,Martinez P,Callard R,Snoeren I,Cochemé HM,Adcott J,Khericha M,Castillo-Quan JI,Wells G,Noble W,Thornton J,Partridge L

更新日期：2017-03-02 00:00:00

abstract：:Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptom...

journal_title：PLoS genetics

authors： Venturini G,Rose AM,Shah AZ,Bhattacharya SS,Rivolta C

更新日期：2012-01-01 00:00:00

abstract：:Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation,...

journal_title：PLoS genetics

authors： Esmaeeli-Nieh S,Fenckova M,Porter IM,Motazacker MM,Nijhof B,Castells-Nobau A,Asztalos Z,Weißmann R,Behjati F,Tzschach A,Felbor U,Scherthan H,Sayfati SM,Ropers HH,Kahrizi K,Najmabadi H,Swedlow JR,Schenck A,Kuss AW

更新日期：2016-05-11 00:00:00

abstract：:Fragile X syndrome (FXS) is a form of inherited mental retardation in humans that results from expansion of a CGG repeat in the Fmr1 gene. Recent studies suggest a role of astrocytes in neuronal development. However, the mechanisms involved in the regulation process of astrocytes from FXS remain unclear. In this study...

journal_title：PLoS genetics

authors： Yang Q,Feng B,Zhang K,Guo YY,Liu SB,Wu YM,Li XQ,Zhao MG

更新日期：2012-01-01 00:00:00

abstract：:Small heat shock proteins (sHsps) are a conserved class of ATP-independent chaperones that bind to aggregation-prone polypeptides at stress conditions. sHsps encage these polypeptides in assemblies, shielding them from further aggregation. To facilitate their subsequent solubilization and refolding by Hsp70 (DnaK) and...

journal_title：PLoS genetics

authors： Obuchowski I,Piróg A,Stolarska M,Tomiczek B,Liberek K

更新日期：2019-10-25 00:00:00

abstract：:In enterobacteria, the Rcs system (Regulator of capsule synthesis) monitors envelope integrity and induces a stress response when damages occur in the outer membrane or in the peptidoglycan layer. Built around a two-component system, Rcs controls gene expression via a cascade of phosphoryl transfer reactions. Being pa...

journal_title：PLoS genetics

authors： Hussein NA,Cho SH,Laloux G,Siam R,Collet JF

更新日期：2018-05-31 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