Complex Loci in human and mouse genomes.

abstract：:Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptom...

journal_title：PLoS genetics

authors： Venturini G,Rose AM,Shah AZ,Bhattacharya SS,Rivolta C

更新日期：2012-01-01 00:00:00

abstract：:The Caenorhabditis elegans left and right AWC olfactory neurons communicate to establish stochastic asymmetric identities, AWC(ON) and AWC(OFF), by inhibiting a calcium-mediated signaling pathway in the future AWC(ON) cell. NSY-4/claudin-like protein and NSY-5/innexin gap junction protein are the two parallel signals ...

journal_title：PLoS genetics

authors： Hsieh YW,Chang C,Chuang CF

更新日期：2012-01-01 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：:[This corrects the article DOI: 10.1371/journal.pgen.1007814.]. ...

journal_title：PLoS genetics

authors： Sun G,Elowsky C,Li G,Wilson RA

更新日期：2019-02-28 00:00:00

abstract：:Humans and dogs are both affected by the allergic skin disease atopic dermatitis (AD), caused by an interaction between genetic and environmental factors. The German shepherd dog (GSD) is a high-risk breed for canine AD (CAD). In this study, we used a Swedish cohort of GSDs as a model for human AD. Serum IgA levels ar...

journal_title：PLoS genetics

authors： Tengvall K,Kierczak M,Bergvall K,Olsson M,Frankowiack M,Farias FH,Pielberg G,Carlborg Ö,Leeb T,Andersson G,Hammarström L,Hedhammar Å,Lindblad-Toh K

更新日期：2013-05-01 00:00:00

abstract：:The heteropentameric condensin complexes have been shown to participate in mitotic chromosome condensation and to be required for unperturbed chromatid segregation in nuclear divisions. Vertebrates have two condensin complexes, condensin I and condensin II, which contain the same structural maintenance of chromosomes ...

journal_title：PLoS genetics

authors： Herzog S,Nagarkar Jaiswal S,Urban E,Riemer A,Fischer S,Heidmann SK

更新日期：2013-04-01 00:00:00

abstract：:We have taken an engineering approach to extending the lifespan of Caenorhabditis elegans. Aging stands out as a complex trait, because events that occur in old animals are not under strong natural selection. As a result, lifespan can be lengthened rationally using bioengineering to modulate gene expression or to add ...

journal_title：PLoS genetics

authors： Sagi D,Kim SK

更新日期：2012-01-01 00:00:00

abstract：:The phenotypic outcome of a mutation cannot be simply mapped onto the underlying DNA variant. Instead, the phenotype is a function of the allele, the genetic background in which it occurs and the environment where the mutational effects are expressed. While the influence of genetic background on the expressivity of in...

journal_title：PLoS genetics

authors： Chari S,Dworkin I

更新日期：2013-01-01 00:00:00

abstract：:Mimivirus and Megavirus are the best characterized representatives of an expanding new family of giant viruses infecting Acanthamoeba. Their most distinctive features, megabase-sized genomes carried in particles of size comparable to that of small bacteria, fill the gap between the viral and cellular worlds. These gia...

journal_title：PLoS genetics

authors： Jeudy S,Abergel C,Claverie JM,Legendre M

更新日期：2012-01-01 00:00:00

abstract：:Skin pigment patterns of vertebrates are a classic system for understanding fundamental mechanisms of morphogenesis, differentiation, and pattern formation, and recent studies of zebrafish have started to elucidate the cellular interactions and molecular mechanisms underlying these processes. In this species, horizont...

journal_title：PLoS genetics

authors： Patterson LB,Parichy DM

更新日期：2013-05-01 00:00:00

abstract：:Almost 60 years ago, Severo Ochoa was awarded the Nobel Prize in Physiology or Medicine for his discovery of the enzymatic synthesis of RNA by polynucleotide phosphorylase (PNPase). Although this discovery provided an important tool for deciphering the genetic code, subsequent work revealed that the predominant functi...

journal_title：PLoS genetics

authors： Cameron TA,Matz LM,De Lay NR

更新日期：2018-10-11 00:00:00

abstract：:The apple is the most common and culturally important fruit crop of temperate areas. The elucidation of its origin and domestication history is therefore of great interest. The wild Central Asian species Malus sieversii has previously been identified as the main contributor to the genome of the cultivated apple (Malus...

journal_title：PLoS genetics

authors： Cornille A,Gladieux P,Smulders MJ,Roldán-Ruiz I,Laurens F,Le Cam B,Nersesyan A,Clavel J,Olonova M,Feugey L,Gabrielyan I,Zhang XG,Tenaillon MI,Giraud T

更新日期：2012-01-01 00:00:00

abstract：:Although numerous genetic loci have been associated with coronary artery disease (CAD) with genome wide association studies, efforts are needed to identify the causal genes in these loci and link them into fundamental signaling pathways. Recent studies have investigated the disease mechanism of CAD associated gene SMA...

journal_title：PLoS genetics

authors： Iyer D,Zhao Q,Wirka R,Naravane A,Nguyen T,Liu B,Nagao M,Cheng P,Miller CL,Kim JB,Pjanic M,Quertermous T

更新日期：2018-10-11 00:00:00

abstract：:We recently showed that cassette integration and deletion in integron platforms were occurring through unconventional site-specific recombination reactions involving only the bottom strand of attC sites. The lack of sequence conservation among attC sites led us to hypothesize that sequence-independent structural recog...

journal_title：PLoS genetics

authors： Bouvier M,Ducos-Galand M,Loot C,Bikard D,Mazel D

更新日期：2009-09-01 00:00:00

abstract：:The C. elegans ortholog of mammalian calsyntenins, CASY-1, is an evolutionarily conserved type-I transmembrane protein that is highly enriched in the nervous system. Mammalian calsyntenins are strongly expressed at inhibitory synapses, but their role in synapse development and function is still elusive. Here, we repor...

journal_title：PLoS genetics

authors： Thapliyal S,Vasudevan A,Dong Y,Bai J,Koushika SP,Babu K

更新日期：2018-03-12 00:00:00

abstract：:In oocytes, where centrosomes are absent, the chromosomes direct the assembly of a bipolar spindle. Interactions between chromosomes and microtubules are essential for both spindle formation and chromosome segregation, but the nature and function of these interactions is not clear. We have examined oocytes lacking two...

journal_title：PLoS genetics

authors： Radford SJ,Hoang TL,Głuszek AA,Ohkura H,McKim KS

更新日期：2015-10-16 00:00:00

abstract：:SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with auti...

journal_title：PLoS genetics

authors： Leblond CS,Nava C,Polge A,Gauthier J,Huguet G,Lumbroso S,Giuliano F,Stordeur C,Depienne C,Mouzat K,Pinto D,Howe J,Lemière N,Durand CM,Guibert J,Ey E,Toro R,Peyre H,Mathieu A,Amsellem F,Rastam M,Gillberg IC,Rap

更新日期：2014-09-04 00:00:00

abstract：:Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromo...

journal_title：PLoS genetics

authors： Roewer L,Nothnagel M,Gusmão L,Gomes V,González M,Corach D,Sala A,Alechine E,Palha T,Santos N,Ribeiro-Dos-Santos A,Geppert M,Willuweit S,Nagy M,Zweynert S,Baeta M,Núñez C,Martínez-Jarreta B,González-Andrade F,Fagunde

更新日期：2013-04-01 00:00:00

abstract：:The sterol regulatory element-binding protein (SREBP) family member SREBP1 is a critical transcriptional regulator of cholesterol and fatty acid metabolism and has been implicated in insulin resistance, diabetes, and other diet-related diseases. We globally identified the promoters occupied by SREBP1 and its binding p...

journal_title：PLoS genetics

authors： Reed BD,Charos AE,Szekely AM,Weissman SM,Snyder M

更新日期：2008-07-25 00:00:00

abstract：:The cell envelope of Gram-negative bacteria is a formidable barrier that is difficult for antimicrobial drugs to penetrate. Thus, the list of treatments effective against these organisms is small and with the rise of new resistance mechanisms is shrinking rapidly. New therapies to treat Gram-negative bacterial infecti...

journal_title：PLoS genetics

authors： Paradis-Bleau C,Kritikos G,Orlova K,Typas A,Bernhardt TG

更新日期：2014-01-01 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：:There is increasing evidence that non-coding macroRNAs are major elements for silencing imprinted genes, but their mechanism of action is poorly understood. Within the imprinted Gnas cluster on mouse chromosome 2, Nespas is a paternally expressed macroRNA that arises from an imprinting control region and runs antisens...

journal_title：PLoS genetics

authors： Williamson CM,Ball ST,Dawson C,Mehta S,Beechey CV,Fray M,Teboul L,Dear TN,Kelsey G,Peters J

更新日期：2011-03-01 00:00:00

abstract：:Genome-wide association studies have shown that pleiotropy is a common phenomenon that can potentially be exploited for enhanced detection of susceptibility loci. We propose heritability informed power optimization (HIPO) for conducting powerful pleiotropic analysis using summary-level association statistics. We find ...

journal_title：PLoS genetics

authors： Qi G,Chatterjee N

更新日期：2018-10-05 00:00:00

abstract：:Short insertions, deletions (INDELs) and larger structural variants have been increasingly employed in genetic association studies, but few improvements over SNP-based association have been reported. In order to understand why this might be the case, we analysed two publicly available datasets and observed that 63% of...

journal_title：PLoS genetics

authors： Song B,Mott R,Gan X

更新日期：2018-10-16 00:00:00

abstract：:The kinetochore is the central molecular machine that drives chromosome segregation in all eukaryotes. Genetic studies have suggested that protein sumoylation plays a role in regulating the inner kinetochore; however, the mechanism remains elusive. Here, we show that Saccharomyces cerevisiae Ulp2, an evolutionarily co...

journal_title：PLoS genetics

authors： Suhandynata RT,Quan Y,Yang Y,Yuan WT,Albuquerque CP,Zhou H

更新日期：2019-11-20 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：:It has been suggested that genetic susceptibility plays an important role in the pathogenesis of diabetic nephropathy. A large-scale genotyping analysis of gene-based single nucleotide polymorphisms (SNPs) in Japanese patients with type 2 diabetes identified the gene encoding acetyl-coenzyme A carboxylase beta (ACACB)...

journal_title：PLoS genetics

authors： Maeda S,Kobayashi MA,Araki S,Babazono T,Freedman BI,Bostrom MA,Cooke JN,Toyoda M,Umezono T,Tarnow L,Hansen T,Gaede P,Jorsal A,Ng DP,Ikeda M,Yanagimoto T,Tsunoda T,Unoki H,Kawai K,Imanishi M,Suzuki D,Shin HD,Pa

更新日期：2010-02-12 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：:Human genome-wide association studies have linked single nucleotide polymorphisms (SNPs) on chromosome 9p21.3 near the INK4/ARF (CDKN2a/b) locus with susceptibility to atherosclerotic vascular disease (ASVD). Although this locus encodes three well-characterized tumor suppressors, p16(INK4a), p15(INK4b), and ARF, the S...

journal_title：PLoS genetics

authors： Burd CE,Jeck WR,Liu Y,Sanoff HK,Wang Z,Sharpless NE

更新日期：2010-12-02 00:00:00

abstract：:The assimilation of nitrate, a most important soil nitrogen source, is tightly regulated in microorganisms and plants. In Aspergillus nidulans, during the transcriptional activation process of nitrate assimilatory genes, the interaction between the pathway-specific transcription factor NirA and the exportin KapK/CRM1 ...

journal_title：PLoS genetics

authors： Gallmetzer A,Silvestrini L,Schinko T,Gesslbauer B,Hortschansky P,Dattenböck C,Muro-Pastor MI,Kungl A,Brakhage AA,Scazzocchio C,Strauss J

更新日期：2015-07-01 00:00:00