Oligoasthenoteratozoospermia and infertility in mice deficient for miR-34b/c and miR-449 loci.

abstract：:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction. Currently there is no cure for the disease. Here, we evaluated the phenotypic effect of activating...

journal_title：PLoS genetics

authors： Meng L,Person RE,Huang W,Zhu PJ,Costa-Mattioli M,Beaudet AL

更新日期：2013-01-01 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：:Microbial populations founded by a single clone and propagated under resource limitation can become polymorphic. We sought to elucidate genetic mechanisms whereby a polymorphism evolved in Escherichia coli under glucose limitation and persisted because of cross-feeding among multiple adaptive clones. Apart from a 29 k...

journal_title：PLoS genetics

authors： Kinnersley MA,Holben WE,Rosenzweig F

更新日期：2009-11-01 00:00:00

abstract：:Little is known about contacts in the spliceosome between proteins and intron nucleotides surrounding the pre-mRNA branch-site and their dynamics during splicing. We investigated protein-pre-mRNA interactions by UV-induced crosslinking of purified yeast B(act) spliceosomes formed on site-specifically labeled pre-mRNA,...

journal_title：PLoS genetics

authors： Schneider C,Agafonov DE,Schmitzová J,Hartmuth K,Fabrizio P,Lührmann R

更新日期：2015-09-22 00:00:00

abstract：:Protein homeostasis is critical for cell survival and functions during stress and is regulated at both RNA and protein levels. However, how the cell integrates RNA-processing programs with post-translational protein quality control systems is unknown. Transactive response DNA-binding protein (TARDBP/TDP-43) is an RNA-...

journal_title：PLoS genetics

authors： Zhang T,Baldie G,Periz G,Wang J

更新日期：2014-10-16 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：:Resection of DNA double-strand break (DSB) ends is generally considered a critical determinant in pathways of DSB repair and genome stability. Unlike for enzymatically induced site-specific DSBs, little is known about processing of random "dirty-ended" DSBs created by DNA damaging agents such as ionizing radiation. He...

journal_title：PLoS genetics

authors： Westmoreland J,Ma W,Yan Y,Van Hulle K,Malkova A,Resnick MA

更新日期：2009-09-01 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：: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：:Although tumor size and lymph node involvement are the current cornerstones of breast cancer prognosis, they have not been extensively explored in relation to tumor methylation attributes in conjunction with other tumor and patient dietary and hormonal characteristics. Using primary breast tumors from 162 (AJCC stage ...

journal_title：PLoS genetics

authors： Christensen BC,Kelsey KT,Zheng S,Houseman EA,Marsit CJ,Wrensch MR,Wiemels JL,Nelson HH,Karagas MR,Kushi LH,Kwan ML,Wiencke JK

更新日期：2010-07-29 00:00:00

abstract：:The evolutionary divergence of mitochondrial ribosomes from their bacterial and cytoplasmic ancestors has resulted in reduced RNA content and the acquisition of mitochondria-specific proteins. The mitochondrial ribosomal protein of the small subunit 34 (MRPS34) is a mitochondria-specific ribosomal protein found only i...

journal_title：PLoS genetics

authors： Richman TR,Ermer JA,Davies SM,Perks KL,Viola HM,Shearwood AM,Hool LC,Rackham O,Filipovska A

更新日期：2015-03-27 00:00:00

abstract：:The application of deep sequencing to map 5' capped transcripts has confirmed the existence of at least two distinct promoter classes in metazoans: "focused" promoters with transcription start sites (TSSs) that occur in a narrowly defined genomic span and "dispersed" promoters with TSSs that are spread over a larger w...

journal_title：PLoS genetics

authors： Rach EA,Winter DR,Benjamin AM,Corcoran DL,Ni T,Zhu J,Ohler U

更新日期：2011-01-13 00:00:00

abstract：:The Unfolded Protein Response (UPR) maintains homeostasis in the endoplasmic reticulum (ER) and defends against ER stress, an underlying factor in various human diseases. During the UPR, numerous genes are activated that sustain and protect the ER. These responses are known to involve the canonical UPR transcription f...

journal_title：PLoS genetics

authors： Glover-Cutter KM,Lin S,Blackwell TK

更新日期：2013-01-01 00:00:00

abstract：:Horizontal gene transfer (HGT) is a major force driving bacterial evolution. Because of their ability to cross inter-species barriers, bacterial plasmids are essential agents for HGT. This ability, however, poses specific requisites on plasmid physiology, in particular the need to overcome a multilevel selection proce...

journal_title：PLoS genetics

authors： Fernandez-Lopez R,Del Campo I,Revilla C,Cuevas A,de la Cruz F

更新日期：2014-02-27 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：:[This corrects the article DOI: 10.1371/journal.pgen.1008367.]. ...

journal_title：PLoS genetics

authors： Baker RL,Leong WF,Brock MT,Rubin MJ,Markelz RJC,Welch S,Maloof JN,Weinig C

更新日期：2020-10-08 00:00:00

abstract：:Sirtuins are NAD⁺-dependent deacetylases, lipoamidases, and ADP-ribosyltransferases that link cellular metabolism to multiple intracellular pathways that influence processes as diverse as cell survival, longevity, and cancer growth. Sirtuins influence the extent of neuronal death in stroke. However, different sirtuins...

journal_title：PLoS genetics

authors： Sangaletti R,D'Amico M,Grant J,Della-Morte D,Bianchi L

更新日期：2017-08-18 00:00:00

abstract：:Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of individuals. Genome-wide association studies (GWAS) showed that both common single nucleotide polymorphisms and copy number variants (CNVs) contribute to height var...

journal_title：PLoS genetics

authors： Zahnleiter D,Uebe S,Ekici AB,Hoyer J,Wiesener A,Wieczorek D,Kunstmann E,Reis A,Doerr HG,Rauch A,Thiel CT

更新日期：2013-01-01 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1004936.]. ...

journal_title：PLoS genetics

authors： Feng B,Liu C,de Oliveira MV,Intorne AC,Li B,Babilonia K,de Souza Filho GA,Shan L,He P

更新日期：2016-09-09 00:00:00

abstract：:Bacteria can arrest their own growth and proliferation upon nutrient depletion and under various stressful conditions to ensure their survival. However, the molecular mechanisms responsible for suppressing growth and arresting the cell cycle under such conditions remain incompletely understood. Here, we identify post-...

journal_title：PLoS genetics

authors： Leslie DJ,Heinen C,Schramm FD,Thüring M,Aakre CD,Murray SM,Laub MT,Jonas K

更新日期：2015-07-02 00:00:00

abstract：:Orienting the causal relationship between pairs of traits is a fundamental task in scientific research with significant implications in practice, such as in prioritizing molecular targets and modifiable risk factors for developing therapeutic and interventional strategies for complex diseases. A recent method, called ...

journal_title：PLoS genetics

authors： Xue H,Pan W

更新日期：2020-11-02 00:00:00

abstract：:rs143383 is a C to T transition SNP located in the 5'untranslated region (5'UTR) of the growth differentiation factor 5 gene GDF5. The T allele of the SNP is associated with increased risk of osteoarthritis (OA) in Europeans and in Asians. This susceptibility is mediated by the T allele producing less GDF5 transcript ...

journal_title：PLoS genetics

authors： Syddall CM,Reynard LN,Young DA,Loughlin J

更新日期：2013-06-01 00:00:00

abstract：:Jacob, the protein encoded by the Nsmf gene, is involved in synapto-nuclear signaling and docks an N-Methyl-D-Aspartate receptor (NMDAR)-derived signalosome to nuclear target sites like the transcription factor cAMP-response-element-binding protein (CREB). Several reports indicate that mutations in NSMF are related to...

journal_title：PLoS genetics

authors： Spilker C,Nullmeier S,Grochowska KM,Schumacher A,Butnaru I,Macharadze T,Gomes GM,Yuanxiang P,Bayraktar G,Rodenstein C,Geiseler C,Kolodziej A,Lopez-Rojas J,Montag D,Angenstein F,Bär J,D'Hanis W,Roskoden T,Mikhaylova M

更新日期：2016-03-15 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：: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：:Mitochondrial translation defects can be due to mutations affecting mitochondrial- or nuclear-encoded components. The number of known nuclear genes involved in mitochondrial translation has significantly increased in the past years. RCC1L (WBSCR16), a putative GDP/GTP exchange factor, has recently been described to in...

journal_title：PLoS genetics

authors： Reyes A,Favia P,Vidoni S,Petruzzella V,Zeviani M

更新日期：2020-07-31 00:00:00

abstract：:Piwi-interacting RNAs are a diverse class of small non-coding RNAs implicated in the silencing of transposable elements and the safeguarding of genome integrity. In mammals, male germ cells express two genetically and developmentally distinct populations of piRNAs at the pre-pachytene and pachytene stages of meiosis, ...

journal_title：PLoS genetics

authors： Zheng K,Wang PJ

更新日期：2012-01-01 00:00:00

abstract：:NURF is a conserved higher eukaryotic ISWI-containing chromatin remodeling complex that catalyzes ATP-dependent nucleosome sliding. By sliding nucleosomes, NURF is able to alter chromatin dynamics to control transcription and genome organization. Previous biochemical and genetic analysis of the specificity-subunit of ...

journal_title：PLoS genetics

authors： Kwon SY,Grisan V,Jang B,Herbert J,Badenhorst P

更新日期：2016-04-05 00:00:00

abstract：:In the last two decades, mitochondrial DNA (mtDNA) and the non-recombining portion of the Y chromosome (NRY) have been extensively used in order to measure the maternally and paternally inherited genetic structure of human populations, and to infer sex-specific demography and history. Most studies converge towards the...

journal_title：PLoS genetics

authors： Ségurel L,Martínez-Cruz B,Quintana-Murci L,Balaresque P,Georges M,Hegay T,Aldashev A,Nasyrova F,Jobling MA,Heyer E,Vitalis R

更新日期：2008-09-26 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