The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

abstract：:From genomic association studies, quantitative trait loci analysis, and epigenomic mapping, it is evident that significant efforts are necessary to define genetic-epigenetic interactions and understand their role in disease susceptibility and progression. For this reason, an analysis of the effects of genetic variatio...

journal_title：PLoS genetics

authors： Delahaye F,Do C,Kong Y,Ashkar R,Salas M,Tycko B,Wapner R,Hughes F

更新日期：2018-11-19 00:00:00

abstract：:The differentiation of cells into distinct cell types, each of which is heritable for many generations, underlies many biological phenomena. White and opaque cells of the fungal pathogen Candida albicans are two such heritable cell types, each thought to be adapted to unique niches within their human host. To systemat...

journal_title：PLoS genetics

authors： Tuch BB,Mitrovich QM,Homann OR,Hernday AD,Monighetti CK,De La Vega FM,Johnson AD

更新日期：2010-08-19 00:00:00

abstract：:Sleep contributes to cognitive functioning and is sufficient to alter brain morphology and function. However, mechanisms underlying sleep regulation remain poorly understood. In mammals, tumor necrosis factor-alpha (TNFα) is known to regulate sleep, and cytokine expression may represent an evolutionarily ancient mecha...

journal_title：PLoS genetics

authors： Vanderheyden WM,Goodman AG,Taylor RH,Frank MG,Van Dongen HPA,Gerstner JR

更新日期：2018-10-31 00:00:00

abstract：:Gap junctions are present in both vertebrates and invertebrates from nematodes to mammals. Although the importance of gap junctions has been documented in many biological processes, the molecular mechanisms underlying gap junction dynamics remain unclear. Here, using the C. elegans PLM neurons as a model, we show that...

journal_title：PLoS genetics

authors： Meng L,Chen CH,Yan D

更新日期：2016-03-25 00:00:00

abstract：:Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number ...

journal_title：PLoS genetics

authors： Pylkäs K,Vuorela M,Otsukka M,Kallioniemi A,Jukkola-Vuorinen A,Winqvist R

更新日期：2012-01-01 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：: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：:The two DNA strands of the nuclear genome are replicated asymmetrically using three DNA polymerases, α, δ, and ε. Current evidence suggests that DNA polymerase ε (Pol ε) is the primary leading strand replicase, whereas Pols α and δ primarily perform lagging strand replication. The fact that these polymerases differ in...

journal_title：PLoS genetics

authors： Lujan SA,Williams JS,Pursell ZF,Abdulovic-Cui AA,Clark AB,Nick McElhinny SA,Kunkel TA

更新日期：2012-01-01 00:00:00

abstract：:Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). Rare genetic mutations in genes such as Parkin, Pink1, DJ-1, α-synuclein, LRRK2 and GBA are found to be responsible for the disease in about 15% of the cases. A key u...

journal_title：PLoS genetics

authors： Giguère N,Delignat-Lavaud B,Herborg F,Voisin A,Li Y,Jacquemet V,Anand-Srivastava M,Gether U,Giros B,Trudeau LÉ

更新日期：2019-08-26 00:00:00

abstract：:Mutations in the gene encoding transcription factor TFAP2A result in pigmentation anomalies in model organisms and premature hair graying in humans. However, the pleiotropic functions of TFAP2A and its redundantly-acting paralogs have made the precise contribution of TFAP2-type activity to melanocyte differentiation u...

journal_title：PLoS genetics

authors： Seberg HE,Van Otterloo E,Loftus SK,Liu H,Bonde G,Sompallae R,Gildea DE,Santana JF,Manak JR,Pavan WJ,Williams T,Cornell RA

更新日期：2017-03-01 00:00:00

abstract：:Conjugation is one mechanism for intra- and inter-species horizontal gene transfer among bacteria. Conjugative elements have been instrumental in many bacterial species to face the threat of antibiotics, by allowing them to evolve and adapt to these hostile conditions. Conjugative plasmids are transferred to plasmidle...

journal_title：PLoS genetics

authors： Baharoglu Z,Bikard D,Mazel D

更新日期：2010-10-21 00:00:00

abstract：:Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by genome-wide association studies (GWAS) in individuals of European ancestry. In order to investigat...

journal_title：PLoS genetics

authors： Ng MC,Shriner D,Chen BH,Li J,Chen WM,Guo X,Liu J,Bielinski SJ,Yanek LR,Nalls MA,Comeau ME,Rasmussen-Torvik LJ,Jensen RA,Evans DS,Sun YV,An P,Patel SR,Lu Y,Long J,Armstrong LL,Wagenknecht L,Yang L,Snively BM,

更新日期：2014-08-07 00:00:00

abstract：:Abnormal fetal growth is a risk factor for infant morbidity and mortality and is associated with cardiometabolic diseases in adults. Genetic influences on fetal growth can vary at different gestation times, but genome-wide association studies have been limited to birthweight. We performed trans-ethnic genome-wide meta...

journal_title：PLoS genetics

authors： Tekola-Ayele F,Zhang C,Wu J,Grantz KL,Rahman ML,Shrestha D,Ouidir M,Workalemahu T,Tsai MY

更新日期：2020-05-14 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：:Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chromosome segregation,...

journal_title：PLoS genetics

authors： Esmaeeli-Nieh S,Fenckova M,Porter IM,Motazacker MM,Nijhof B,Castells-Nobau A,Asztalos Z,Weißmann R,Behjati F,Tzschach A,Felbor U,Scherthan H,Sayfati SM,Ropers HH,Kahrizi K,Najmabadi H,Swedlow JR,Schenck A,Kuss AW

更新日期：2016-05-11 00:00:00

abstract：:Dietary factors, including meat, fruits, vegetables and fiber, are associated with colorectal cancer; however, there is limited information as to whether these dietary factors interact with genetic variants to modify risk of colorectal cancer. We tested interactions between these dietary factors and approximately 2.7 ...

journal_title：PLoS genetics

authors： Figueiredo JC,Hsu L,Hutter CM,Lin Y,Campbell PT,Baron JA,Berndt SI,Jiao S,Casey G,Fortini B,Chan AT,Cotterchio M,Lemire M,Gallinger S,Harrison TA,Le Marchand L,Newcomb PA,Slattery ML,Caan BJ,Carlson CS,Zanke BW,

更新日期：2014-04-17 00:00:00

abstract：:Ribosomes are the highly complex macromolecular assemblies dedicated to the synthesis of all cellular proteins from mRNA templates. The main principles underlying the making of ribosomes are conserved across eukaryotic organisms and this process has been studied in most detail in the yeast Saccharomyces cerevisiae. Ye...

journal_title：PLoS genetics

authors： Pillet B,García-Gómez JJ,Pausch P,Falquet L,Bange G,de la Cruz J,Kressler D

更新日期：2015-10-08 00:00:00

abstract：:Transposable elements (TEs) are genomic parasites that selfishly replicate at the expense of host fitness. Fifty years of evolutionary studies of TEs have concentrated on the deleterious genetic effects of TEs, such as their effects on disrupting genes and regulatory sequences. However, a flurry of recent work suggest...

journal_title：PLoS genetics

authors： Choi JY,Lee YCG

更新日期：2020-07-16 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：:A variety of models have been proposed to explain regions of recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) to comprehensively assess the role of the Knudson two hit genetic model in SCNA generation in prostate cancer...

journal_title：PLoS genetics

authors： Camacho N,Van Loo P,Edwards S,Kay JD,Matthews L,Haase K,Clark J,Dennis N,Thomas S,Kremeyer B,Zamora J,Butler AP,Gundem G,Merson S,Luxton H,Hawkins S,Ghori M,Marsden L,Lambert A,Karaszi K,Pelvender G,Massie CE,

更新日期：2017-09-25 00:00:00

abstract：:CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) loci, together with cas (CRISPR-associated) genes, form the CRISPR/Cas adaptive immune system, a primary defense strategy that eubacteria and archaea mobilize against foreign nucleic acids, including phages and conjugative plasmids. Short spacer sequen...

journal_title：PLoS genetics

authors： Rho M,Wu YW,Tang H,Doak TG,Ye Y

更新日期：2012-01-01 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：:Phenotypes extracted from Electronic Health Records (EHRs) are increasingly prevalent in genetic studies. EHRs contain hundreds of distinct clinical laboratory test results, providing a trove of health data beyond diagnoses. Such lab data is complex and lacks a ubiquitous coding scheme, making it more challenging than...

journal_title：PLoS genetics

authors： Goldstein JA,Weinstock JS,Bastarache LA,Larach DB,Fritsche LG,Schmidt EM,Brummett CM,Kheterpal S,Abecasis GR,Denny JC,Zawistowski M

更新日期：2020-11-11 00:00:00

abstract：:Under nitrogen deprivation, filaments of the cyanobacterium Anabaena undergo a process of development, resulting in a one-dimensional pattern of nitrogen-fixing heterocysts separated by about ten photosynthetic vegetative cells. Many aspects of gene expression before nitrogen deprivation and during the developmental p...

journal_title：PLoS genetics

authors： Corrales-Guerrero L,Tal A,Arbel-Goren R,Mariscal V,Flores E,Herrero A,Stavans J

更新日期：2015-04-01 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is a progressive muscular dystrophy caused by decreased epigenetic repression of the D4Z4 macrosatellite repeats and ectopic expression of DUX4, a retrogene encoding a germline transcription factor encoded in each repeat. Unaffected individuals generally have more than 10 repeats a...

journal_title：PLoS genetics

authors： Krom YD,Thijssen PE,Young JM,den Hamer B,Balog J,Yao Z,Maves L,Snider L,Knopp P,Zammit PS,Rijkers T,van Engelen BG,Padberg GW,Frants RR,Tawil R,Tapscott SJ,van der Maarel SM

更新日期：2013-04-01 00:00:00

abstract：:Zeins, the predominent storage proteins in maize endosperm, are encoded by multiple genes and gene families. However, only a few transcriptional factors for zein gene regulation have been functionally characterized. In this study, a MADS-box protein, namely ZmMADS47, was identified as an Opaque2 (O2) interacting prote...

journal_title：PLoS genetics

authors： Qiao Z,Qi W,Wang Q,Feng Y,Yang Q,Zhang N,Wang S,Tang Y,Song R

更新日期：2016-04-14 00:00:00

abstract：:Polycomb proteins are epigenetic regulators that localize to developmental loci in the early embryo where they mediate lineage-specific gene repression. In Drosophila, these repressors are recruited to sequence elements by DNA binding proteins associated with Polycomb repressive complex 2 (PRC2). However, the sequence...

journal_title：PLoS genetics

authors： Mendenhall EM,Koche RP,Truong T,Zhou VW,Issac B,Chi AS,Ku M,Bernstein BE

更新日期：2010-12-09 00:00:00

abstract：:Guanine (G)-rich DNA readily forms four-stranded quadruplexes in vitro, but evidence for their participation in genome regulation is limited. We have identified a quadruplex-binding protein, Lia3, that controls the boundaries of germline-limited, internal eliminated sequences (IESs) of Tetrahymena thermophila. Differe...

journal_title：PLoS genetics

authors： Carle CM,Zaher HS,Chalker DL

更新日期：2016-03-07 00:00:00

abstract：:Synthesis of ribosomal RNA by RNA polymerase I (RNA pol I) is an elemental biological process and is key for cellular homeostasis. In a forward genetic screen in C. elegans designed to identify DNA damage-response factors, we isolated a point mutation of RNA pol I, rpoa-2(op259), that leads to altered rRNA synthesis a...

journal_title：PLoS genetics

authors： Eberhard R,Stergiou L,Hofmann ER,Hofmann J,Haenni S,Teo Y,Furger A,Hengartner MO

更新日期：2013-11-01 00:00:00

abstract：:The use of modern molecular biology tools in deciphering the perturbed biochemistry and physiology underlying the obese state has proven invaluable. Identifying the hypothalamic leptin/melanocortin pathway as critical in many cases of monogenic obesity has permitted targeted, hypothesis-driven experiments to be perfor...

journal_title：PLoS genetics

authors： Mutch DM,Clément K

更新日期：2006-12-29 00:00:00