COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

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：:Seedling establishment is inhibited on media containing high levels (∼ 6%) of glucose or fructose. Genetic loci that overcome the inhibition of seedling growth on high sugar have been identified using natural variation analysis and mutant selection, providing insight into sugar signaling pathways. In this study, a qua...

journal_title：PLoS genetics

authors： Li P,Zhou H,Shi X,Yu B,Zhou Y,Chen S,Wang Y,Peng Y,Meyer RC,Smeekens SC,Teng S

更新日期：2014-03-13 00:00:00

abstract：:Intron number varies considerably among genomes, but despite their fundamental importance, the mutational mechanisms and evolutionary processes underlying the expansion of intron number remain unknown. Here we show that Drosophila, in contrast to most eukaryotic lineages, is still undergoing a dramatic rate of intron ...

journal_title：PLoS genetics

authors： Farlow A,Meduri E,Dolezal M,Hua L,Schlötterer C

更新日期：2010-01-22 00:00:00

abstract：:The Caenorhabditis elegans class A and B synthetic multivulva (synMuv) genes redundantly antagonize an EGF/Ras pathway to prevent ectopic vulval induction. We identify a class A synMuv mutation in the promoter of the lin-3 EGF gene, establishing that lin-3 is the key biological target of the class A synMuv genes in vu...

journal_title：PLoS genetics

authors： Saffer AM,Kim DH,van Oudenaarden A,Horvitz HR

更新日期：2011-12-01 00:00:00

abstract：:High-throughput genetic screens are powerful methods to identify genes linked to a given phenotype. The catalytic null mutant of the Cas9 RNA-guided nuclease (dCas9) can be conveniently used to silence genes of interest in a method also known as CRISPRi. Here, we report a genome-wide CRISPR-dCas9 screen using a starti...

journal_title：PLoS genetics

authors： Rousset F,Cui L,Siouve E,Becavin C,Depardieu F,Bikard D

更新日期：2018-11-07 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：:The hallmark of canonical Wnt signaling is the transcriptional induction of Wnt target genes by the beta-catenin/TCF complex. Several studies have proposed alternative interaction partners for beta-catenin or TCF, but the relevance of potential bifurcations in the distal Wnt pathway remains unclear. Here we study on a...

journal_title：PLoS genetics

authors： Franz A,Shlyueva D,Brunner E,Stark A,Basler K

更新日期：2017-04-03 00:00:00

abstract：:Pathological aggregates of phosphorylated TDP-43 characterize amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP), two devastating groups of neurodegenerative disease. Kinase hyperactivity may be a consistent feature of ALS and FTLD-TDP, as phosphorylated TDP-43 is not observed in the ...

journal_title：PLoS genetics

authors： Liachko NF,McMillan PJ,Strovas TJ,Loomis E,Greenup L,Murrell JR,Ghetti B,Raskind MA,Montine TJ,Bird TD,Leverenz JB,Kraemer BC

更新日期：2014-12-04 00:00:00

abstract：:Human FTO gene variants are associated with body mass index and type 2 diabetes. Because the obesity-associated SNPs are intronic, it is unclear whether changes in FTO expression or splicing are the cause of obesity or if regulatory elements within intron 1 influence upstream or downstream genes. We tested the idea th...

journal_title：PLoS genetics

authors： Church C,Lee S,Bagg EA,McTaggart JS,Deacon R,Gerken T,Lee A,Moir L,Mecinović J,Quwailid MM,Schofield CJ,Ashcroft FM,Cox RD

更新日期：2009-08-01 00:00:00

abstract：:Cooperative transcription factor binding at cis-regulatory sites in the genome drives robust eukaryotic gene expression, and many such sites must be coordinated to produce coherent transcriptional programs. The transcriptional program leading to motile cilia formation requires members of the DNA-binding forkhead (Fox)...

journal_title：PLoS genetics

authors： Quigley IK,Kintner C

更新日期：2017-01-19 00:00:00

abstract：:Cellulolytic fungi have evolved a complex regulatory network to maintain the precise balance of nutrients required for growth and hydrolytic enzyme production. When fungi are exposed to cellulose, the transcript levels of cellulase genes rapidly increase and then decline. However, the mechanisms underlying this bell-s...

journal_title：PLoS genetics

authors： Lin L,Wang S,Li X,He Q,Benz JP,Tian C

更新日期：2019-11-25 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：:Polygenic scores are increasingly powerful predictors of educational achievement. It is unclear, however, how sets of polygenic scores, which partly capture environmental effects, perform jointly with sets of environmental measures, which are themselves heritable, in prediction models of educational achievement. Here,...

journal_title：PLoS genetics

authors： Allegrini AG,Karhunen V,Coleman JRI,Selzam S,Rimfeld K,von Stumm S,Pingault JB,Plomin R

更新日期：2020-11-17 00:00:00

abstract：:Knowledge of the functional cis-regulatory elements that regulate constitutive and alternative pre-mRNA splicing is fundamental for biology and medicine. Here we undertook a genome-wide comparative genomics approach using available mammalian genomes to identify conserved intronic splicing regulatory elements (ISREs). ...

journal_title：PLoS genetics

authors： Yeo GW,Van Nostrand EL,Liang TY

更新日期：2007-05-25 00:00:00

abstract：:The female gametophyte of flowering plants, the embryo sac, develops within the diploid (sporophytic) tissue of the ovule. While embryo sac-expressed genes are known to be required at multiple stages of the fertilization process, the set of embryo sac-expressed genes has remained poorly defined. In particular, the set...

journal_title：PLoS genetics

authors： Jones-Rhoades MW,Borevitz JO,Preuss D

更新日期：2007-10-01 00:00:00

abstract：:A large fraction of human genes are regulated by genetic variation near the transcribed sequence (cis-eQTL, expression quantitative trait locus), and many cis-eQTLs have implications for human disease. Less is known regarding the effects of genetic variation on expression of distant genes (trans-eQTLs) and their biolo...

journal_title：PLoS genetics

authors： Pierce BL,Tong L,Chen LS,Rahaman R,Argos M,Jasmine F,Roy S,Paul-Brutus R,Westra HJ,Franke L,Esko T,Zaman R,Islam T,Rahman M,Baron JA,Kibriya MG,Ahsan H

更新日期：2014-12-04 00:00:00

abstract：:Ubiquitylation is fundamental for the regulation of the stability and function of p53 and c-Myc. The E3 ligase Pirh2 has been reported to polyubiquitylate p53 and to mediate its proteasomal degradation. Here, using Pirh2 deficient mice, we report that Pirh2 is important for the in vivo regulation of p53 stability in r...

journal_title：PLoS genetics

authors： Hakem A,Bohgaki M,Lemmers B,Tai E,Salmena L,Matysiak-Zablocki E,Jung YS,Karaskova J,Kaustov L,Duan S,Madore J,Boutros P,Sheng Y,Chesi M,Bergsagel PL,Perez-Ordonez B,Mes-Masson AM,Penn L,Squire J,Chen X,Jurisica I

更新日期：2011-11-01 00:00:00

abstract：:White blood cell (WBC) count is a common clinical measure from complete blood count assays, and it varies widely among healthy individuals. Total WBC count and its constituent subtypes have been shown to be moderately heritable, with the heritability estimates varying across cell types. We studied 19,509 subjects from...

journal_title：PLoS genetics

authors： Nalls MA,Couper DJ,Tanaka T,van Rooij FJ,Chen MH,Smith AV,Toniolo D,Zakai NA,Yang Q,Greinacher A,Wood AR,Garcia M,Gasparini P,Liu Y,Lumley T,Folsom AR,Reiner AP,Gieger C,Lagou V,Felix JF,Völzke H,Gouskova NA,B

更新日期：2011-06-01 00:00:00

abstract：:Differences in transcriptional regulatory networks underlie much of the phenotypic variation observed across organisms. Changes to cis-regulatory elements are widely believed to be the predominant means by which regulatory networks evolve, yet examples of regulatory network divergence due to transcription factor (TF) ...

journal_title：PLoS genetics

authors： Nadimpalli S,Persikov AV,Singh M

更新日期：2015-03-06 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：:Sex-specific traits that lead to the production of dimorphic gametes, sperm in males and eggs in females, are fundamental for sexual reproduction and accordingly widespread among animals. Yet the sex-biased genes that underlie these sex-specific traits are under strong selective pressure, and as a result of adaptive e...

journal_title：PLoS genetics

authors： Shah C,Vangompel MJ,Naeem V,Chen Y,Lee T,Angeloni N,Wang Y,Xu EY

更新日期：2010-07-15 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1006788.]. ...

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：2017-07-12 00:00:00

abstract：:Meiotic recombination is essential for the repair of programmed double strand breaks (DSBs) to generate crossovers (COs) during meiosis. The efficient processing of meiotic recombination intermediates not only needs various resolvases but also requires proper meiotic chromosome structure. The Smc5/6 complex belongs to...

journal_title：PLoS genetics

authors： Hong Y,Sonneville R,Agostinho A,Meier B,Wang B,Blow JJ,Gartner A

更新日期：2016-03-24 00:00:00

abstract：:During development, proper differentiation and final organ size rely on the control of territorial specification and cell proliferation. Although many regulators of these processes have been identified, how both are coordinated remains largely unknown. The homeodomain Iroquois/Irx proteins play a key, evolutionarily c...

journal_title：PLoS genetics

authors： Barrios N,González-Pérez E,Hernández R,Campuzano S

更新日期：2015-08-25 00:00:00

abstract：:The Eukaryotic RecA-like proteins Rad51 and Dmc1 cooperate during meiosis to promote recombination between homologous chromosomes by repairing programmed DNA double strand breaks (DSBs). Previous studies showed that Rad51 and Dmc1 form partially overlapping co-foci. Here we show these Rad51-Dmc1 co-foci are often arra...

journal_title：PLoS genetics

authors： Brown MS,Grubb J,Zhang A,Rust MJ,Bishop DK

更新日期：2015-12-31 00:00:00

abstract：:We report here the ~670 Mb genome assembly of the Asian seabass (Lates calcarifer), a tropical marine teleost. We used long-read sequencing augmented by transcriptomics, optical and genetic mapping along with shared synteny from closely related fish species to derive a chromosome-level assembly with a contig N50 size ...

journal_title：PLoS genetics

authors： Vij S,Kuhl H,Kuznetsova IS,Komissarov A,Yurchenko AA,Van Heusden P,Singh S,Thevasagayam NM,Prakki SR,Purushothaman K,Saju JM,Jiang J,Mbandi SK,Jonas M,Hin Yan Tong A,Mwangi S,Lau D,Ngoh SY,Liew WC,Shen X,Hon LS,

更新日期：2016-04-15 00:00:00

abstract：:Retinoblastoma (Rb), the most common pediatric intraocular neoplasm, results from inactivation of both alleles of the RB1 tumor suppressor gene. The second allele is most commonly lost, as demonstrated by loss of heterozygosity studies. RB1 germline carriers usually develop bilateral tumors, but some Rb families displ...

journal_title：PLoS genetics

authors： Eloy P,Dehainault C,Sefta M,Aerts I,Doz F,Cassoux N,Lumbroso le Rouic L,Stoppa-Lyonnet D,Radvanyi F,Millot GA,Gauthier-Villars M,Houdayer C

更新日期：2016-02-29 00:00:00

abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. In mos...

journal_title：PLoS genetics

authors： González-Vioque E,Torres-Torronteras J,Andreu AL,Martí R

更新日期：2011-03-01 00:00:00

abstract：:Polycomb (PcG) regulation has been thought to produce stable long-term gene silencing. Genomic analyses in Drosophila and mammals, however, have shown that it targets many genes, which can switch state during development. Genetic evidence indicates that critical for the active state of PcG target genes are the histone...

journal_title：PLoS genetics

authors： Schwartz YB,Kahn TG,Stenberg P,Ohno K,Bourgon R,Pirrotta V

更新日期：2010-01-01 00:00:00

abstract：:Asymmetrical segregation of differentiated sister chromatids is thought to be important for cellular differentiation in higher eukaryotes. Similarly, in fission yeast, cellular differentiation involves the asymmetrical segregation of a chromosomal imprint. This imprint has been shown to consist of two ribonucleotides ...

journal_title：PLoS genetics

authors： Sayrac S,Vengrova S,Godfrey EL,Dalgaard JZ

更新日期：2011-03-01 00:00:00