Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data.

abstract：:In many cases protein assemblies are stabilized by covalent bonds, one example of which is the formation of intra- or intermolecular ε-(γ-glutamyl)lysil cross-links catalyzed by transglutaminases (TGases). Because of the potential for unwanted cross-linking reactions, the activities of many TGases have been shown to b...

journal_title：PLoS genetics

authors： Fernandes CG,Martins D,Hernandez G,Sousa AL,Freitas C,Tranfield EM,Cordeiro TN,Serrano M,Moran CP Jr,Henriques AO

更新日期：2019-04-08 00:00:00

abstract：:Fpr1 (FK506-sensitive proline rotamase 1), a protein of the FKBP12 (FK506-binding protein 12 kDa) family in Saccharomyces cerevisiae, is a primary target for the immunosuppressive agents FK506 and rapamycin. Fpr1 inhibits calcineurin and TORC1 (target of rapamycin complex 1) when bound to FK506 and rapamycin, respecti...

journal_title：PLoS genetics

authors： Kasahara K,Nakayama R,Shiwa Y,Kanesaki Y,Ishige T,Yoshikawa H,Kokubo T

更新日期：2020-06-30 00:00:00

abstract：:Bases within DNA are frequently damaged, producing obstacles to efficient and accurate DNA replication by replicative polymerases. Translesion synthesis (TLS) polymerases, via their ability to catalyze nucleotide additions to growing DNA chains across DNA lesions, promote replication of damaged DNA, thus preventing ch...

journal_title：PLoS genetics

authors： van Bostelen I,van Schendel R,Romeijn R,Tijsterman M

更新日期：2020-04-24 00:00:00

abstract：:We resequenced and phased 27 kb of DNA within 580 kb of the MHC class II region in 158 population chromosomes, most of which were conserved extended haplotypes (CEHs) of European descent or contained their centromeric fragments. We determined the single nucleotide polymorphism and deletion-insertion polymorphism allel...

journal_title：PLoS genetics

authors： Larsen CE,Alford DR,Trautwein MR,Jalloh YK,Tarnacki JL,Kunnenkeri SK,Fici DA,Yunis EJ,Awdeh ZL,Alper CA

更新日期：2014-10-09 00:00:00

abstract：:Nonallelic homologous recombination (NAHR) between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of del...

journal_title：PLoS genetics

authors： MacArthur JA,Spector TD,Lindsay SJ,Mangino M,Gill R,Small KS,Hurles ME

更新日期：2014-03-06 00:00:00

abstract：:Sexual development is a key evolutionary innovation of eukaryotes. In many species, mating involves interaction between compatible mating partners that can undergo cell and nuclear fusion and subsequent steps of development including meiosis. Mating compatibility in fungi is governed by the mating type (MAT) loci. In ...

journal_title：PLoS genetics

authors： Sun S,Coelho MA,Heitman J,Nowrousian M

更新日期：2019-09-06 00:00:00

abstract：:We recently reported that centrosomal protein 164 (CEP164) regulates both cilia and the DNA damage response in the autosomal recessive polycystic kidney disease nephronophthisis. Here we examine the functional role of CEP164 in nephronophthisis-related ciliopathies and concomitant fibrosis. Live cell imaging of RPE-FU...

journal_title：PLoS genetics

authors： Slaats GG,Ghosh AK,Falke LL,Le Corre S,Shaltiel IA,van de Hoek G,Klasson TD,Stokman MF,Logister I,Verhaar MC,Goldschmeding R,Nguyen TQ,Drummond IA,Hildebrandt F,Giles RH

更新日期：2014-10-23 00:00:00

abstract：:Qsp1 is a secreted quorum sensing peptide required for virulence of the fungal meningitis pathogen Cryptococcus neoformans. Qsp1 functions to control cell wall integrity in vegetatively growing cells and also functions in mating. Rather than acting on a cell surface receptor, Qsp1 is imported to act intracellularly vi...

journal_title：PLoS genetics

authors： Summers DK,Perry DS,Rao B,Madhani HD

更新日期：2020-09-21 00:00:00

abstract：:Polymyxin is the last line of defense against severe infections caused by carbapenem-resistant gram-negative pathogens. The emergence of transferable MCR-1/2 polymyxin resistance greatly challenges the renewed interest in colistin (polymyxin E) for clinical treatments. Recent studies have suggested that Moraxella spec...

journal_title：PLoS genetics

authors： Wei W,Srinivas S,Lin J,Tang Z,Wang S,Ullah S,Kota VG,Feng Y

更新日期：2018-05-14 00:00:00

abstract：:Lymphotoxin-alpha (LTA) is a pro-inflammatory cytokine that plays an important role in the immune system and local inflammatory response. LTA is expressed in atherosclerotic plaques and has been implicated in the pathogenesis of atherosclerosis and coronary heart disease (CHD). Polymorphisms in the gene encoding lymph...

journal_title：PLoS genetics

authors： Clarke R,Xu P,Bennett D,Lewington S,Zondervan K,Parish S,Palmer A,Clark S,Cardon L,Peto R,Lathrop M,Collins R,International Study of Infarct Survival (ISIS) Collaborators.

更新日期：2006-07-01 00:00:00

abstract：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 00:00:00

abstract：:In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We report that the mouse ortholog (Trip13) of pachytene checkpoint 2 (PCH2), an essential component of the synapsis checkpoint in...

journal_title：PLoS genetics

authors： Li XC,Schimenti JC

更新日期：2007-08-01 00:00:00

abstract：:The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular basis of quantitative traits as well as human genetic diseases. Genome sequencing of multiple organisms of the same species provides an efficient means of cataloging rearrangements, insertion,...

journal_title：PLoS genetics

authors： Doniger SW,Kim HS,Swain D,Corcuera D,Williams M,Yang SP,Fay JC

更新日期：2008-08-29 00:00:00

abstract：:Despite strong vetting for disease activity, only 10% of candidate new molecular entities in early stage clinical trials are eventually approved. Analyzing historical pipeline data, Nelson et al. 2015 (Nat. Genet.) concluded pipeline drug targets with human genetic evidence of disease association are twice as likely t...

journal_title：PLoS genetics

authors： King EA,Davis JW,Degner JF

更新日期：2019-12-12 00:00:00

abstract：:In flat-faced dog breeds, air resistance caused by skull conformation is believed to be a major determinant of Brachycephalic Obstructive Airway Syndrome (BOAS). The clinical presentation of BOAS is heterogeneous, suggesting determinants independent of skull conformation contribute to airway disease. Norwich Terriers,...

journal_title：PLoS genetics

authors： Marchant TW,Dietschi E,Rytz U,Schawalder P,Jagannathan V,Hadji Rasouliha S,Gurtner C,Waldvogel AS,Harrington RS,Drögemüller M,Kidd J,Ostrander EA,Warr A,Watson M,Argyle D,Ter Haar G,Clements DN,Leeb T,Schoenebeck JJ

更新日期：2019-05-16 00:00:00

abstract：:X-chromosome inactivation (XCI) in female lymphocytes is uniquely regulated, as the inactive X (Xi) chromosome lacks localized Xist RNA and heterochromatin modifications. Epigenetic profiling reveals that Xist RNA is lost from the Xi at the pro-B cell stage and that additional heterochromatic modifications are gradual...

journal_title：PLoS genetics

authors： Syrett CM,Sindhava V,Hodawadekar S,Myles A,Liang G,Zhang Y,Nandi S,Cancro M,Atchison M,Anguera MC

更新日期：2017-10-09 00:00:00

abstract：:Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear. Reduced representation bisulfite sequencing (RRBS) analysis at single base resolution revealed D...

journal_title：PLoS genetics

authors： Jin S,Lee YK,Lim YC,Zheng Z,Lin XM,Ng DP,Holbrook JD,Law HY,Kwek KY,Yeo GS,Ding C

更新日期：2013-06-01 00:00:00

abstract：:Bacterial diversification is often observed, but underlying mechanisms are difficult to disentangle and remain generally unknown. Moreover, controlled diversification experiments in ecologically relevant environments are lacking. We studied bacterial diversification in the mammalian gut, one of the most complex bacter...

journal_title：PLoS genetics

authors： De Paepe M,Gaboriau-Routhiau V,Rainteau D,Rakotobe S,Taddei F,Cerf-Bensussan N

更新日期：2011-06-01 00:00:00

abstract：:Zygotic gene expression programs control cell differentiation in vertebrate development. In Xenopus, these programs are initiated by local induction of regulatory genes through maternal signaling activities in the wake of zygotic genome activation (ZGA) at the midblastula transition (MBT). These programs lay down the ...

journal_title：PLoS genetics

authors： Wagner G,Singhal N,Nicetto D,Straub T,Kremmer E,Rupp RAW

更新日期：2017-05-12 00:00:00

abstract：:The Drosophila genes spalt major (salm) and spalt-related (salr) encode Zn-finger transcription factors regulated by the Decapentaplegic (Dpp) signalling pathway in the wing imaginal disc. The function of these genes is required for cell survival and proliferation in the central region of the wing disc, and also for v...

journal_title：PLoS genetics

authors： Organista MF,Martín M,de Celis JM,Barrio R,López-Varea A,Esteban N,Casado M,de Celis JF

更新日期：2015-08-04 00:00:00

abstract：:The oligodendrocyte density is greater and myelin sheaths are thicker in the adult male mouse brain when compared with females. Here, we show that these sex differences emerge during the first 10 postnatal days, precisely at a stage when a late wave of oligodendrocyte progenitor cells arises and starts differentiating...

journal_title：PLoS genetics

authors： Abi Ghanem C,Degerny C,Hussain R,Liere P,Pianos A,Tourpin S,Habert R,Macklin WB,Schumacher M,Ghoumari AM

更新日期：2017-11-06 00:00:00

abstract：:An efficient approach to characterizing the disease burden of rare genetic variants is to impute them into large well-phenotyped cohorts with existing genome-wide genotype data using large sequenced referenced panels. The success of this approach hinges on the accuracy of rare variant imputation, which remains controv...

journal_title：PLoS genetics

authors： Hoffmann TJ,Sakoda LC,Shen L,Jorgenson E,Habel LA,Liu J,Kvale MN,Asgari MM,Banda Y,Corley D,Kushi LH,Quesenberry CP Jr,Schaefer C,Van Den Eeden SK,Risch N,Witte JS

更新日期：2015-01-28 00:00:00

abstract：:Chemosensory pheromonal information regulates aggression and reproduction in many species, but how pheromonal signals are transduced to reliably produce behavior is not well understood. Here we demonstrate that the pheromonal signals detected by Gr32a-expressing chemosensory neurons to enhance male aggression are filt...

journal_title：PLoS genetics

authors： Andrews JC,Fernández MP,Yu Q,Leary GP,Leung AK,Kavanaugh MP,Kravitz EA,Certel SJ

更新日期：2014-05-22 00:00:00

abstract：:Copy number expansions such as amplifications and duplications contribute to human phenotypic variation, promote molecular diversification during evolution, and drive the initiation and/or progression of various cancers. The mechanisms underlying these copy number changes are still incompletely understood, however. We...

journal_title：PLoS genetics

authors： Finn KJ,Li JJ

更新日期：2013-01-01 00:00:00

abstract：:PCNA ubiquitylation on lysine 164 is required for DNA damage tolerance. In many organisms PCNA is also ubiquitylated in unchallenged S phase but the significance of this has not been established. Using Schizosaccharomyces pombe, we demonstrate that lysine 164 ubiquitylation of PCNA contributes to efficient DNA replica...

journal_title：PLoS genetics

authors： Daigaku Y,Etheridge TJ,Nakazawa Y,Nakayama M,Watson AT,Miyabe I,Ogi T,Osborne MA,Carr AM

更新日期：2017-05-08 00:00:00

abstract：:Phosphoribosyl pyrophosphate synthetase (PRPS) is a rate-limiting enzyme whose function is important for the biosynthesis of purines, pyrimidines, and pyridines. Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis...

journal_title：PLoS genetics

authors： Delos Santos K,Kim M,Yergeau C,Jean S,Moon NS

更新日期：2019-09-05 00:00:00

abstract：:Species barriers, expressed as hybrid inviability and sterility, are often due to epistatic interactions between divergent loci from two lineages. Theoretical models indicate that the strength, direction, and complexity of these genetic interactions can strongly affect the expression of interspecific reproductive isol...

journal_title：PLoS genetics

authors： Guerrero RF,Muir CD,Josway S,Moyle LC

更新日期：2017-06-12 00:00:00

abstract：:Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...

journal_title：PLoS genetics

authors： van der Does HC,Fokkens L,Yang A,Schmidt SM,Langereis L,Lukasiewicz JM,Hughes TR,Rep M

更新日期：2016-11-17 00:00:00

abstract：:The modification of transcriptional regulation has become increasingly appreciated as a major contributor to morphological evolution. However, the role of negative-acting control elements (e.g. silencers) in generating morphological diversity has been generally overlooked relative to positive-acting "enhancer" element...

journal_title：PLoS genetics

authors： Johnson WC,Ordway AJ,Watada M,Pruitt JN,Williams TM,Rebeiz M

更新日期：2015-06-26 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