Sister centromere fusion during meiosis I depends on maintaining cohesins and destabilizing microtubule attachments.

abstract：:Genomic instability is a hallmark of human cancer cells. To prevent genomic instability, chromosomal DNA is faithfully duplicated in every cell division cycle, and eukaryotic cells have complex regulatory mechanisms to achieve this goal. Here, we show that untimely activation of replication origins during the G1 phase...

journal_title：PLoS genetics

authors： Tanaka S,Araki H

更新日期：2011-06-01 00:00:00

abstract：:X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). Biochemically, catalytically inacti...

journal_title：PLoS genetics

authors： Gupta VA,Hnia K,Smith LL,Gundry SR,McIntire JE,Shimazu J,Bass JR,Talbot EA,Amoasii L,Goldman NE,Laporte J,Beggs AH

更新日期：2013-06-01 00:00:00

abstract：:Most biological nitrogen fixation is catalyzed by molybdenum-dependent nitrogenase, an enzyme complex comprising two component proteins that contains three different metalloclusters. Diazotrophs contain a common core of nitrogen fixation nif genes that encode the structural subunits of the enzyme and components requir...

journal_title：PLoS genetics

authors： Wang L,Zhang L,Liu Z,Zhao D,Liu X,Zhang B,Xie J,Hong Y,Li P,Chen S,Dixon R,Li J

更新日期：2013-01-01 00:00:00

abstract：:RNA interference (RNAi) related pathways are essential for germline development and fertility in metazoa and can contribute to inter- and trans-generational inheritance. In the nematode Caenorhabditis elegans, environmental double-stranded RNA provided by feeding can lead to heritable changes in phenotype and gene exp...

journal_title：PLoS genetics

authors： Bezler A,Braukmann F,West SM,Duplan A,Conconi R,Schütz F,Gönczy P,Piano F,Gunsalus K,Miska EA,Keller L

更新日期：2019-02-08 00:00:00

abstract：:Genome-wide association studies (GWAS) have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However, while typical GWAS analysis techniques treat markers individually, comple...

journal_title：PLoS genetics

authors： Braun R,Buetow K

更新日期：2011-06-01 00:00:00

abstract：:Homolog pairing, which plays a critical role in meiosis, poses a potential risk if it occurs in inappropriate tissues or between nonallelic sites, as it can lead to changes in gene expression, chromosome entanglements, and loss-of-heterozygosity due to mitotic recombination. This is particularly true in Drosophila, wh...

journal_title：PLoS genetics

authors： Joyce EF,Apostolopoulos N,Beliveau BJ,Wu CT

更新日期：2013-01-01 00:00:00

abstract：:In order to study the role played by cellular RNA pools produced by homologous genomic loci in defining the transcriptional state of a silenced gene, we tested the effect of non-functional alleles of the white gene in the presence of a functional copy of white, silenced by heterochromatin. We found that non-functional...

journal_title：PLoS genetics

authors： Onorati MC,Arancio W,Cavalieri V,Ingrassia AM,Pavesi G,Corona DF

更新日期：2015-08-20 00:00:00

abstract：:Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxin...

journal_title：PLoS genetics

authors： Downey CM,Horton CR,Carlson BA,Parsons TE,Hatfield DL,Hallgrímsson B,Jirik FR

更新日期：2009-08-01 00:00:00

abstract：:L1 retrotransposons have a prominent role in reshaping mammalian genomes. To replicate, the L1 ribonucleoprotein particle (RNP) first uses its endonuclease (EN) to nick the genomic DNA. The newly generated DNA end is subsequently used as a primer to initiate reverse transcription within the L1 RNA poly(A) tail, a proc...

journal_title：PLoS genetics

authors： Monot C,Kuciak M,Viollet S,Mir AA,Gabus C,Darlix JL,Cristofari G

更新日期：2013-05-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region gen...

journal_title：PLoS genetics

authors： Taylor KE,Remmers EF,Lee AT,Ortmann WA,Plenge RM,Tian C,Chung SA,Nititham J,Hom G,Kao AH,Demirci FY,Kamboh MI,Petri M,Manzi S,Kastner DL,Seldin MF,Gregersen PK,Behrens TW,Criswell LA

更新日期：2008-05-30 00:00:00

abstract：:Loss of the XPF-ERCC1 endonuclease causes a dramatic phenotype that results in progeroid features associated with liver, kidney and bone marrow dysfunction. As this nuclease is involved in multiple DNA repair transactions, it is plausible that this severe phenotype results from the simultaneous inactivation of both br...

journal_title：PLoS genetics

authors： Mulderrig L,Garaycoechea JI

更新日期：2020-04-09 00:00:00

abstract：:Retinoblastoma (pRb) is a multifunctional regulator, which was likely present in the last common ancestor of all eukaryotes. The Arabidopsis pRb homolog RETINOBLASTOMA RELATED 1 (RBR1), similar to its animal counterparts, controls not only cell proliferation but is also implicated in developmental decisions, stress re...

journal_title：PLoS genetics

authors： Bouyer D,Heese M,Chen P,Harashima H,Roudier F,Grüttner C,Schnittger A

更新日期：2018-11-30 00:00:00

abstract：:Signaling pathways enable cells to sense and respond to their environment. Many cellular signaling strategies are conserved from fungi to humans, yet their activity and phenotypic consequences can vary extensively among individuals within a species. A systematic assessment of the impact of naturally occurring genetic ...

journal_title：PLoS genetics

authors： Treusch S,Albert FW,Bloom JS,Kotenko IE,Kruglyak L

更新日期：2015-01-08 00:00:00

abstract：:H1 linker histones facilitate higher-order chromatin folding and are essential for mammalian development. To achieve high-resolution mapping of H1 variants H1d and H1c in embryonic stem cells (ESCs), we have established a knock-in system and shown that the N-terminally tagged H1 proteins are functionally interchangeab...

journal_title：PLoS genetics

authors： Cao K,Lailler N,Zhang Y,Kumar A,Uppal K,Liu Z,Lee EK,Wu H,Medrzycki M,Pan C,Ho PY,Cooper GP Jr,Dong X,Bock C,Bouhassira EE,Fan Y

更新日期：2013-01-01 00:00:00

abstract：:Cell cycle control is modified at meiosis compared to mitosis, because two divisions follow a single DNA replication event. Cyclin-dependent kinases (CDKs) promote progression through both meiosis and mitosis, and a central regulator of their activity is the APC/C (Anaphase Promoting Complex/Cyclosome) that is especia...

journal_title：PLoS genetics

authors： Cromer L,Heyman J,Touati S,Harashima H,Araou E,Girard C,Horlow C,Wassmann K,Schnittger A,De Veylder L,Mercier R

更新日期：2012-01-01 00:00:00

abstract：:Despite the well-documented role of remote enhancers in controlling developmental gene expression, the mechanisms that allocate enhancers to genes are poorly characterized. Here, we investigate the cis-regulatory organization of the locus containing the Tfap2c and Bmp7 genes in vivo, using a series of engineered chrom...

journal_title：PLoS genetics

authors： Tsujimura T,Klein FA,Langenfeld K,Glaser J,Huber W,Spitz F

更新日期：2015-01-08 00:00:00

abstract：:The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of genes with less obvious phenotypic consequences. To test this hyp...

journal_title：PLoS genetics

authors： Alsalem AB,Halees AS,Anazi S,Alshamekh S,Alkuraya FS

更新日期：2013-01-01 00:00:00

abstract：:Epigenetic gene silencing plays a critical role in regulating gene expression and contributes to organismal development and cell fate acquisition in eukaryotes. In fission yeast, Schizosaccharomyces pombe, heterochromatin-associated gene silencing is known to be mediated by RNA processing pathways including RNA interf...

journal_title：PLoS genetics

authors： Tucker JF,Ohle C,Schermann G,Bendrin K,Zhang W,Fischer T,Zhang K

更新日期：2016-02-18 00:00:00

abstract：:The pentatricopeptide repeat (PPR) is a helical repeat motif found in an exceptionally large family of RNA-binding proteins that functions in mitochondrial and chloroplast gene expression. PPR proteins harbor between 2 and 30 repeats and typically bind single-stranded RNA in a sequence-specific fashion. However, the b...

journal_title：PLoS genetics

authors： Barkan A,Rojas M,Fujii S,Yap A,Chong YS,Bond CS,Small I

更新日期：2012-01-01 00:00:00

abstract：:During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...

journal_title：PLoS genetics

authors： Pattabiraman D,Roelens B,Woglar A,Villeneuve AM

更新日期：2017-03-24 00:00:00

abstract：:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous muta...

journal_title：PLoS genetics

authors： Rainger J,van Beusekom E,Ramsay JK,McKie L,Al-Gazali L,Pallotta R,Saponari A,Branney P,Fisher M,Morrison H,Bicknell L,Gautier P,Perry P,Sokhi K,Sexton D,Bardakjian TM,Schneider AS,Elcioglu N,Ozkinay F,Koenig R,Még

更新日期：2011-07-01 00:00:00

abstract：:Steroid hormones act, through their respective nuclear receptors, to regulate target gene expression. Despite their critical role in development, physiology, and disease, however, it is still unclear how these systemic cues are refined into tissue-specific responses. We identified a mutation in the evolutionarily cons...

journal_title：PLoS genetics

authors： Ihry RJ,Sapiro AL,Bashirullah A

更新日期：2012-01-01 00:00:00

abstract：:Mating-type switching is a complex mechanism that promotes sexual reproduction in Saccharomycotina. In the model species Saccharomyces cerevisiae, mating-type switching is initiated by the Ho endonuclease that performs a site-specific double-strand break (DSB) at MAT, repaired by homologous recombination (HR) using on...

journal_title：PLoS genetics

authors： Maroc L,Zhou-Li Y,Boisnard S,Fairhead C

更新日期：2020-10-15 00:00:00

abstract：:Blood vessels are vital to sustain life in all vertebrates. While it is known that mural cells (pericytes and smooth muscle cells) regulate vascular integrity, the contribution of other cell types to vascular stabilization has been largely unexplored. Using zebrafish, we identified sclerotome-derived perivascular fibr...

journal_title：PLoS genetics

authors： Rajan AM,Ma RC,Kocha KM,Zhang DJ,Huang P

更新日期：2020-10-26 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：:Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-translational modificati...

journal_title：PLoS genetics

authors： Reimand J,Wagih O,Bader GD

更新日期：2015-01-22 00:00:00

abstract：:Aging in Caenorhabditis elegans is characterized by widespread physiological and molecular changes, but the mechanisms that determine the rate at which these changes occur are not well understood. In this study, we identify a novel link between reproductive aging and somatic aging in C. elegans. By measuring global ag...

journal_title：PLoS genetics

authors： Zimmerman SM,Hinkson IV,Elias JE,Kim SK

更新日期：2015-12-11 00:00:00

abstract：:In metazoans, apoptotic cells are swiftly engulfed by phagocytes and degraded inside phagosomes. Multiple small GTPases in the Rab family are known to function in phagosome maturation by regulating vesicle trafficking. We discovered rab-35 as a new gene important for apoptotic cell clearance from a genetic screen targ...

journal_title：PLoS genetics

authors： Haley R,Wang Y,Zhou Z

更新日期：2018-08-23 00:00:00

abstract：:Because of the stochastic way in which lineages sort during speciation, gene trees may differ in topology from each other and from species trees. Surprisingly, assuming that genetic lineages follow a coalescent model of within-species evolution, we find that for any species tree topology with five or more species, the...

journal_title：PLoS genetics

authors： Degnan JH,Rosenberg NA

更新日期：2006-05-01 00:00:00

abstract：:Heterochromatic homology ensures the segregation of achiasmate chromosomes during meiosis I in Drosophila melanogaster females, perhaps as a consequence of the heterochromatic threads that connect achiasmate homologs during prometaphase I. Here, we ask how these threads, and other possible heterochromatic entanglement...

journal_title：PLoS genetics

authors： Hughes SE,Hawley RS

更新日期：2014-10-23 00:00:00