Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network.

abstract：:Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...

journal_title：PLoS genetics

authors： Muggenthaler MM,Chowdhury B,Hasan SN,Cross HE,Mark B,Harlalka GV,Patton MA,Ishida M,Behr ER,Sharma S,Zahka K,Faqeih E,Blakley B,Jackson M,Lees M,Dolinsky V,Cross L,Stanier P,Salter C,Baple EL,Alkuraya FS,Crosby

更新日期：2017-01-12 00:00:00

abstract：:In Drosophila, dosage compensation augments X chromosome-linked transcription in males relative to females. This process is achieved by the Dosage Compensation Complex (DCC), which associates specifically with the male X chromosome. We previously found that the morphology of this chromosome is sensitive to the amounts...

journal_title：PLoS genetics

authors： Spierer A,Begeot F,Spierer P,Delattre M

更新日期：2008-05-02 00:00:00

abstract：:Using small molecule probes to understand gene function is an attractive approach that allows functional characterization of genes that are dispensable in standard laboratory conditions and provides insight into the mode of action of these compounds. Using chemogenomic assays we previously identified yeast Crg1, an un...

journal_title：PLoS genetics

authors： Lissina E,Young B,Urbanus ML,Guan XL,Lowenson J,Hoon S,Baryshnikova A,Riezman I,Michaut M,Riezman H,Cowen LE,Wenk MR,Clarke SG,Giaever G,Nislow C

更新日期：2011-10-01 00:00:00

abstract：:Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, refle...

journal_title：PLoS genetics

authors： Weinberg CR,Shi M,DeRoo LA,Taylor JA,Sandler DP,Umbach DM

更新日期：2014-03-20 00:00:00

abstract：:The major transition to eusociality required the evolution of a switch to canalize development into either a reproductive or a helper, the nature of which is currently unknown. Following predictions from the 'theory of facilitated variation', we identify sex differentiation pathways as promising candidates because of ...

journal_title：PLoS genetics

authors： Klein A,Schultner E,Lowak H,Schrader L,Heinze J,Holman L,Oettler J

更新日期：2016-03-31 00:00:00

abstract：:Histidine kinase QseE and response regulator QseF compose a two-component system in Enterobacteriaceae. In Escherichia coli K-12 QseF activates transcription of glmY and of rpoE from Sigma 54-dependent promoters by binding to upstream activating sequences. Small RNA GlmY and RpoE (Sigma 24) are important regulators of...

journal_title：PLoS genetics

authors： Göpel Y,Görke B

更新日期：2018-07-24 00:00:00

abstract：:Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life with Huntington's disease or myotonic dystrophy. Broad ranges of repeat instability arise between individuals with expanded repeats, suggesting the existence of ...

journal_title：PLoS genetics

authors： Tomé S,Manley K,Simard JP,Clark GW,Slean MM,Swami M,Shelbourne PF,Tillier ER,Monckton DG,Messer A,Pearson CE

更新日期：2013-01-01 00:00:00

abstract：:The relationship between population size, inbreeding, loss of genetic variation and evolutionary potential of fitness traits is still unresolved, and large-scale empirical studies testing theoretical expectations are surprisingly scarce. Here we present a highly replicated experimental evolution setup with 120 lines o...

journal_title：PLoS genetics

authors： Ørsted M,Hoffmann AA,Sverrisdóttir E,Nielsen KL,Kristensen TN

更新日期：2019-06-12 00:00:00

abstract：:Meiosis is a specialized cell division used by diploid organisms to form haploid gametes for sexual reproduction. Central to this reductive division is repair of endogenous DNA double-strand breaks (DSBs) induced by the meiosis-specific enzyme Spo11. These DSBs are repaired in a process called homologous recombination...

journal_title：PLoS genetics

authors： Lilienthal I,Kanno T,Sjögren C

更新日期：2013-11-01 00:00:00

abstract：:Smc5/6, a member of the conserved SMC family of complexes, is essential for growth in most organisms. Its exact functions in a mitotic cell cycle are controversial, as chronic Smc5/6 loss-of-function alleles produce varying phenotypes. To circumvent this issue, we acutely depleted Smc5/6 in budding yeast and determine...

journal_title：PLoS genetics

authors： Peng XP,Lim S,Li S,Marjavaara L,Chabes A,Zhao X

更新日期：2018-01-23 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：:CTP synthase is an essential enzyme that plays a key role in energy metabolism. Several independent studies have demonstrated that CTP synthase can form an evolutionarily conserved subcellular structure termed cytoophidium. In budding yeast, there are two isoforms of CTP synthase and both isoforms localize in cytoophi...

journal_title：PLoS genetics

authors： Azzam G,Liu JL

更新日期：2013-01-01 00:00:00

abstract：:As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd....

journal_title：PLoS genetics

authors： Rivas MA,Avila BE,Koskela J,Huang H,Stevens C,Pirinen M,Haritunians T,Neale BM,Kurki M,Ganna A,Graham D,Glaser B,Peter I,Atzmon G,Barzilai N,Levine AP,Schiff E,Pontikos N,Weisburd B,Lek M,Karczewski KJ,Bloom J,

更新日期：2018-05-24 00:00:00

abstract：:In budding yeast, intragenic histone modification is linked with transcriptional elongation through the conserved regulator Paf1C. To investigate Paf1C-related function in higher eukaryotes, we analyzed the effects of loss of Paf1C on histone H3 density and patterns of H3 methylated at K4, K27, and K36 in Arabidopsis ...

journal_title：PLoS genetics

authors： Oh S,Park S,van Nocker S

更新日期：2008-08-22 00:00:00

abstract：:The epigenetic regulation of gene expression by the covalent modification of histones is a fundamental mechanism required for the proper differentiation of germ line cells during development. Trimethylation of histone 3 lysine 9 (H3K9me3) leads to chromatin silencing and the formation of heterochromatin by recruitment...

journal_title：PLoS genetics

authors： Koch CM,Honemann-Capito M,Egger-Adam D,Wodarz A

更新日期：2009-09-01 00:00:00

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：:Mitochondria have been increasingly recognized as a central regulatory nexus for multiple metabolic pathways, in addition to ATP production via oxidative phosphorylation (OXPHOS). Here we show that inducing mitochondrial DNA (mtDNA) stress in Drosophila using a mitochondrially-targeted Type I restriction endonuclease ...

journal_title：PLoS genetics

authors： Bahhir D,Yalgin C,Ots L,Järvinen S,George J,Naudí A,Krama T,Krams I,Tamm M,Andjelković A,Dufour E,González de Cózar JM,Gerards M,Parhiala M,Pamplona R,Jacobs HT,Jõers P

更新日期：2019-10-04 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：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 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：: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

abstract：:Detailed information about stage-specific changes in gene expression is crucial for the understanding of the gene regulatory networks underlying development. Here, we describe the global gene expression dynamics during early flower development, a key process in the life cycle of a plant, during which floral patterning...

journal_title：PLoS genetics

authors： Wellmer F,Alves-Ferreira M,Dubois A,Riechmann JL,Meyerowitz EM

更新日期：2006-07-01 00:00:00

abstract：:While several studies have investigated general properties of the genetic architecture of natural variation in gene expression, few of these have considered natural, outbreeding populations. In parallel, systems biology has established that a general feature of biological networks is that they are scale-free, renderin...

journal_title：PLoS genetics

authors： Mähler N,Wang J,Terebieniec BK,Ingvarsson PK,Street NR,Hvidsten TR

更新日期：2017-04-13 00:00:00

abstract：:Magnetosomes of magnetotactic bacteria contain well-ordered nanocrystals for magnetic navigation and have recently emerged as the most sophisticated model system to study the formation of membrane bounded organelles in prokaryotes. Magnetosome biosynthesis is thought to begin with the formation of a dedicated compartm...

journal_title：PLoS genetics

authors： Raschdorf O,Forstner Y,Kolinko I,Uebe R,Plitzko JM,Schüler D

更新日期：2016-06-10 00:00:00

abstract：:Shifts between epigenetic states of transcriptional activity are typically correlated with changes in epigenetic marks. However, exceptions to this rule suggest the existence of additional, as yet uncharacterized, layers of epigenetic regulation. MOM1, a protein of 2,001 amino acids that acts as a transcriptional sile...

journal_title：PLoS genetics

authors： Nishimura T,Molinard G,Petty TJ,Broger L,Gabus C,Halazonetis TD,Thore S,Paszkowski J

更新日期：2012-02-01 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：:Cellular toxicity introduced by protein misfolding threatens cell fitness and viability. Failure to eliminate these polypeptides is associated with various aggregation diseases. In eukaryotes, the ubiquitin proteasome system (UPS) plays a vital role in protein quality control (PQC), by selectively targeting misfolded ...

journal_title：PLoS genetics

authors： Peters LZ,Karmon O,David-Kadoch G,Hazan R,Yu T,Glickman MH,Ben-Aroya S

更新日期：2015-04-28 00:00:00

abstract：:Neural stem cell self-renewal, neurogenesis, and cell fate determination are processes that control the generation of specific classes of neurons at the correct place and time. The transcription factor Pax6 is essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central n...

journal_title：PLoS genetics

authors： Sansom SN,Griffiths DS,Faedo A,Kleinjan DJ,Ruan Y,Smith J,van Heyningen V,Rubenstein JL,Livesey FJ

更新日期：2009-06-01 00:00:00

abstract：:Complete metamorphosis (Holometaboly) is a key innovation that underlies the spectacular success of holometabolous insects. Phylogenetic analyses indicate that Holometabola form a monophyletic group that evolved from ancestors exhibiting hemimetabolous development (Hemimetaboly). However, the nature of the changes und...

journal_title：PLoS genetics

authors： Ureña E,Chafino S,Manjón C,Franch-Marro X,Martín D

更新日期：2016-05-02 00:00:00

abstract：:Colicins are plasmid-encoded narrow spectrum antibiotics that are synthesized by strains of Escherichia coli and govern intraspecies competition. In a previous report, we demonstrated that the global transcriptional factor IscR, co dependently with the master regulator of the DNA damage response, LexA, delays inductio...

journal_title：PLoS genetics

authors： Kamenšek S,Browning DF,Podlesek Z,Busby SJ,Žgur-Bertok D,Butala M

更新日期：2015-06-26 00:00:00