Stage-specific expression profiling of Drosophila spermatogenesis suggests that meiotic sex chromosome inactivation drives genomic relocation of testis-expressed genes.

abstract：:The contributions of the Sgs1, Mph1, and Srs2 DNA helicases during mitotic double-strand break (DSB) repair in yeast were investigated using a gap-repair assay. A diverged chromosomal substrate was used as a repair template for the gapped plasmid, allowing mismatch-containing heteroduplex DNA (hDNA) formed during reco...

journal_title：PLoS genetics

authors： Mitchel K,Lehner K,Jinks-Robertson S

更新日期：2013-01-01 00:00:00

abstract：:Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitutes the extreme of hyperopia or farsightedness, a common refractive e...

journal_title：PLoS genetics

authors： Garnai SJ,Brinkmeier ML,Emery B,Aleman TS,Pyle LC,Veleva-Rotse B,Sisk RA,Rozsa FW,Ozel AB,Li JZ,Moroi SE,Archer SM,Lin CM,Sheskey S,Wiinikka-Buesser L,Eadie J,Urquhart JE,Black GCM,Othman MI,Boehnke M,Sullivan SA

更新日期：2019-05-02 00:00:00

abstract：:The High Pathogenicity Island of Yersinia pseudotuberculosis IP32637 was previously shown to be horizontally transferable as part of a large chromosomal segment. We demonstrate here that at low temperature other chromosomal loci, as well as a non-mobilizable plasmid (pUC4K), are also transferable. This transfer, desig...

journal_title：PLoS genetics

authors： Lesic B,Zouine M,Ducos-Galand M,Huon C,Rosso ML,Prévost MC,Mazel D,Carniel E

更新日期：2012-01-01 00:00:00

abstract：:Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies depend on conventional mapping, so the propagation of affected mice req...

journal_title：PLoS genetics

authors： Bull KR,Rimmer AJ,Siggs OM,Miosge LA,Roots CM,Enders A,Bertram EM,Crockford TL,Whittle B,Potter PK,Simon MM,Mallon AM,Brown SD,Beutler B,Goodnow CC,Lunter G,Cornall RJ

更新日期：2013-01-01 00:00:00

abstract：:Arsenic is a well-established human carcinogen of poorly understood mechanism of genotoxicity. It is generally accepted that arsenic acts indirectly by generating oxidative DNA damage that can be converted to replication-dependent DNA double-strand breaks (DSBs), as well as by interfering with DNA repair pathways and ...

journal_title：PLoS genetics

authors： Litwin I,Bocer T,Dziadkowiec D,Wysocki R

更新日期：2013-01-01 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：:Transposable elements are driving forces for establishing genetic innovations such as transcriptional regulatory networks in eukaryotic genomes. Here, we describe a silencer situated in the last 300 bp of the Mos1 transposase open reading frame (ORF) which functions in vertebrate and arthropod cells. Functional silenc...

journal_title：PLoS genetics

authors： Bire S,Casteret S,Piégu B,Beauclair L,Moiré N,Arensbuger P,Bigot Y

更新日期：2016-03-03 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：:We recently showed that cassette integration and deletion in integron platforms were occurring through unconventional site-specific recombination reactions involving only the bottom strand of attC sites. The lack of sequence conservation among attC sites led us to hypothesize that sequence-independent structural recog...

journal_title：PLoS genetics

authors： Bouvier M,Ducos-Galand M,Loot C,Bikard D,Mazel D

更新日期：2009-09-01 00:00:00

abstract：:Abnormal accumulation of the microtubule-interacting protein tau is associated with neurodegenerative diseases including Alzheimer's disease (AD). β-amyloid (Aβ) lies upstream of abnormal tau behavior, including detachment from microtubules, phosphorylation at several disease-specific sites, and self-aggregation into ...

journal_title：PLoS genetics

authors： Ando K,Maruko-Otake A,Ohtake Y,Hayashishita M,Sekiya M,Iijima KM

更新日期：2016-03-29 00:00:00

abstract：:Evolutionary life history theory seeks to explain how reproductive and survival traits are shaped by selection through allocations of an individual's resources to competing life functions. Although life-history traits evolve rapidly, little is known about the genetic and cellular mechanisms that control and couple the...

journal_title：PLoS genetics

authors： Large EE,Xu W,Zhao Y,Brady SC,Long L,Butcher RA,Andersen EC,McGrath PT

更新日期：2016-07-28 00:00:00

abstract：:ATP-dependent chromatin remodelers control DNA access for transcription, recombination, and other processes. Acf1 (also known as BAZ1A in mammals) is a defining subunit of the conserved ISWI-family chromatin remodelers ACF and CHRAC, first purified over 15 years ago from Drosophila melanogaster embryos. Much is known ...

journal_title：PLoS genetics

authors： Dowdle JA,Mehta M,Kass EM,Vuong BQ,Inagaki A,Egli D,Jasin M,Keeney S

更新日期：2013-11-01 00:00:00

abstract：:Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu. ...

journal_title：PLoS genetics

authors： Lev-Maor G,Ram O,Kim E,Sela N,Goren A,Levanon EY,Ast G

更新日期：2008-09-26 00:00:00

abstract：:Marine ecosystems are changing rapidly as the oceans warm and become more acidic. The physical factors and the changes to ocean chemistry that they drive can all be measured with great precision. Changes in the biological composition of communities in different ocean regions are far more challenging to measure because...

journal_title：PLoS genetics

authors： Berry TE,Saunders BJ,Coghlan ML,Stat M,Jarman S,Richardson AJ,Davies CH,Berry O,Harvey ES,Bunce M

更新日期：2019-02-08 00:00:00

abstract：:The apple is the most common and culturally important fruit crop of temperate areas. The elucidation of its origin and domestication history is therefore of great interest. The wild Central Asian species Malus sieversii has previously been identified as the main contributor to the genome of the cultivated apple (Malus...

journal_title：PLoS genetics

authors： Cornille A,Gladieux P,Smulders MJ,Roldán-Ruiz I,Laurens F,Le Cam B,Nersesyan A,Clavel J,Olonova M,Feugey L,Gabrielyan I,Zhang XG,Tenaillon MI,Giraud T

更新日期：2012-01-01 00:00:00

abstract：:Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit ...

journal_title：PLoS genetics

authors： Oegema R,Baillat D,Schot R,van Unen LM,Brooks A,Kia SK,Hoogeboom AJM,Xia Z,Li W,Cesaroni M,Lequin MH,van Slegtenhorst M,Dobyns WB,de Coo IFM,Verheijen FW,Kremer A,van der Spek PJ,Heijsman D,Wagner EJ,Fornerod M,Ma

更新日期：2017-05-25 00:00:00

abstract：:NF-κB is a key transcription factor regulating the expression of inflammatory responsive genes. How NF-κB binds to naked DNA templates is well documented, but how it interacts with chromatin is far from being clear. Here we used a combination of UV laser footprinting, hydroxyl footprinting and electrophoretic mobility...

journal_title：PLoS genetics

authors： Lone IN,Shukla MS,Charles Richard JL,Peshev ZY,Dimitrov S,Angelov D

更新日期：2013-01-01 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Development of a functional musculoskeletal system requires coordinated generation of muscles, bones, and tendons. However, how axial tendon cells (tenocytes) are generated during embryo development is still poorly understood. Here, we show that axial tenocytes arise from the sclerotome in zebrafish. In contrast to mo...

journal_title：PLoS genetics

authors： Ma RC,Jacobs CT,Sharma P,Kocha KM,Huang P

更新日期：2018-11-02 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：: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：:Translesion DNA synthesis (TLS) is a DNA damage tolerance mechanism in which specialized low-fidelity DNA polymerases bypass replication-blocking lesions, and it is usually associated with mutagenesis. In Saccharomyces cerevisiae a key event in TLS is the monoubiquitination of PCNA, which enables recruitment of the sp...

journal_title：PLoS genetics

authors： Hendel A,Krijger PH,Diamant N,Goren Z,Langerak P,Kim J,Reissner T,Lee KY,Geacintov NE,Carell T,Myung K,Tateishi S,D'Andrea A,Jacobs H,Livneh Z

更新日期：2011-09-01 00:00:00

abstract：:Studies in model organisms suggest that epistasis may play an important role in the etiology of complex diseases and traits in humans. With the era of large-scale genome-wide association studies fast approaching, it is important to quantify whether it will be possible to detect interacting loci using realistic sample ...

journal_title：PLoS genetics

authors： Evans DM,Marchini J,Morris AP,Cardon LR

更新日期：2006-09-22 00:00:00

abstract：:Understanding the molecular basis for phenotypic differences between humans and other primates remains an outstanding challenge. Mutations in non-coding regulatory DNA that alter gene expression have been hypothesized as a key driver of these phenotypic differences. This has been supported by differential gene express...

journal_title：PLoS genetics

authors： Shibata Y,Sheffield NC,Fedrigo O,Babbitt CC,Wortham M,Tewari AK,London D,Song L,Lee BK,Iyer VR,Parker SC,Margulies EH,Wray GA,Furey TS,Crawford GE

更新日期：2012-06-01 00:00:00

abstract：:Rheumatoid arthritis is a chronic inflammatory disease with a high prevalence and substantial socioeconomic burden. Despite intense research efforts, its aetiology and pathogenesis remain poorly understood. To identify novel genes and/or cellular pathways involved in the pathogenesis of the disease, we utilized a well...

journal_title：PLoS genetics

authors： Aidinis V,Carninci P,Armaka M,Witke W,Harokopos V,Pavelka N,Koczan D,Argyropoulos C,Thwin MM,Möller S,Waki K,Gopalakrishnakone P,Ricciardi-Castagnoli P,Thiesen HJ,Hayashizaki Y,Kollias G

更新日期：2005-10-01 00:00:00

abstract：:Over the past four decades, the predominant view of molecular evolution saw little connection between natural selection and genome evolution, assuming that the functionally constrained fraction of the genome is relatively small and that adaptation is sufficiently infrequent to play little role in shaping patterns of v...

journal_title：PLoS genetics

authors： Sella G,Petrov DA,Przeworski M,Andolfatto P

更新日期：2009-06-01 00:00:00

abstract：:The mitochondrial beta-oxidation system is one of the central metabolic pathways of energy metabolism in mammals. Enzyme defects in this pathway cause fatty acid oxidation disorders. To elucidate the role of 2,4-dienoyl-CoA reductase (DECR) as an auxiliary enzyme in the mitochondrial beta-oxidation of unsaturated fatt...

journal_title：PLoS genetics

authors： Miinalainen IJ,Schmitz W,Huotari A,Autio KJ,Soininen R,Ver Loren van Themaat E,Baes M,Herzig KH,Conzelmann E,Hiltunen JK

更新日期：2009-07-01 00:00:00

abstract：:Chromosome breakage is a major threat to genome integrity. The most accurate way to repair DNA double strand breaks (DSB) is homologous recombination (HR) with an intact copy of the broken locus. Mobility of the broken DNA has been seen to increase during the search for a donor copy. Observing chromosome dynamics duri...

journal_title：PLoS genetics

authors： Saad H,Gallardo F,Dalvai M,Tanguy-le-Gac N,Lane D,Bystricky K

更新日期：2014-03-13 00:00:00

abstract：:Gene retroposition leads to considerable genetic variation between individuals. Recent studies revealed the presence of at least 208 retroduplication variations (RDVs), a class of polymorphisms, in which a retrocopy is present or absent from individual genomes. Most of these RDVs resulted from recent retroduplications...

journal_title：PLoS genetics

authors： Kabza M,Kubiak MR,Danek A,Rosikiewicz W,Deorowicz S,Polański A,Makałowska I

更新日期：2015-10-16 00:00:00

abstract：:Guanine (G)-rich DNA readily forms four-stranded quadruplexes in vitro, but evidence for their participation in genome regulation is limited. We have identified a quadruplex-binding protein, Lia3, that controls the boundaries of germline-limited, internal eliminated sequences (IESs) of Tetrahymena thermophila. Differe...

journal_title：PLoS genetics

authors： Carle CM,Zaher HS,Chalker DL

更新日期：2016-03-07 00:00:00