Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

abstract：:Genome-wide association studies (GWAS) have now been conducted for hundreds of phenotypes of relevance to human health. Many such GWAS involve multiple closely-related phenotypes collected on the same samples. However, the vast majority of these GWAS have been analyzed using simple univariate analyses, which consider ...

journal_title：PLoS genetics

authors： Turchin MC,Stephens M

更新日期：2019-10-09 00:00:00

abstract：:Type-III protein secretion systems are utilized by gram-negative pathogens to secrete building blocks of the bacterial flagellum, virulence effectors from the cytoplasm into host cells, and structural subunits of the needle complex. The flagellar type-III secretion apparatus utilizes both the energy of the proton moti...

journal_title：PLoS genetics

authors： Erhardt M,Mertens ME,Fabiani FD,Hughes KT

更新日期：2014-11-13 00:00:00

abstract：:The ascomycete Trichoderma reesei is a highly prolific cellulase producer. While XYR1 (Xylanase regulator 1) has been firmly established to be the master activator of cellulase gene expression in T. reesei, its precise transcriptional activation mechanism remains poorly understood. In the present study, TrGAL11, a com...

journal_title：PLoS genetics

authors： Zheng F,Cao Y,Yang R,Wang L,Lv X,Zhang W,Meng X,Liu W

更新日期：2020-09-02 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：:At the molecular level, the evolution of new traits can be broadly divided between changes in gene expression and changes in protein-coding sequence. For proteins, the evolution of novel functions is generally thought to proceed through sequential point mutations or recombination of whole functional units. In Saccharo...

journal_title：PLoS genetics

authors： Baker EP,Hittinger CT

更新日期：2019-04-04 00:00:00

abstract：:DNA sequence polymorphism in a regulatory protein can have a widespread transcriptional effect. Here we present a computational approach for analyzing modules of genes with a common regulation that are affected by specific DNA polymorphisms. We identify such regulatory-linkage modules by integrating genotypic and expr...

journal_title：PLoS genetics

authors： Gat-Viks I,Meller R,Kupiec M,Shamir R

更新日期：2010-01-01 00:00:00

abstract：:The genetic background of complex diseases is proposed to consist of several low-penetrance risk loci. Addressing this complexity likely requires both large sample size and simultaneous analysis of different predisposing variants. We investigated the role of four thrombosis genes: coagulation factor V (F5), intercellu...

journal_title：PLoS genetics

authors： Auro K,Alanne M,Kristiansson K,Silander K,Kuulasmaa K,Salomaa V,Peltonen L,Perola M

更新日期：2007-07-01 00:00:00

abstract：:During development of the cerebral cortex, neural stem cells (NSCs) divide symmetrically to proliferate and asymmetrically to generate neurons. Although faithful segregation of mitotic chromosomes is critical for NSC divisions, its fundamental mechanism remains unclear. A class of evolutionarily conserved protein comp...

journal_title：PLoS genetics

authors： Nishide K,Hirano T

更新日期：2014-12-04 00:00:00

abstract：:[This corrects the article DOI: 10.1371/journal.pgen.1000832.]. ...

journal_title：PLoS genetics

authors： Clark MJ,Homer N,O'Connor BD,Chen Z,Eskin A,Lee H,Merriman B,Nelson SF

更新日期：2018-05-16 00:00:00

abstract：:Chromosome 3p21-22 harbors two clusters of chemokine receptor genes, several of which serve as major or minor coreceptors of HIV-1. Although the genetic association of CCR5 and CCR2 variants with HIV-1 pathogenesis is well known, the role of variation in other nearby chemokine receptor genes remain unresolved. We geno...

journal_title：PLoS genetics

authors： An P,Li R,Wang JM,Yoshimura T,Takahashi M,Samudralal R,O'Brien SJ,Phair J,Goedert JJ,Kirk GD,Troyer JL,Sezgin E,Buchbinder SP,Donfield S,Nelson GW,Winkler CA

更新日期：2011-10-01 00:00:00

abstract：:Previous genetic studies have suggested a history of sub-Saharan African gene flow into some West Eurasian populations after the initial dispersal out of Africa that occurred at least 45,000 years ago. However, there has been no accurate characterization of the proportion of mixture, or of its date. We analyze genome-...

journal_title：PLoS genetics

authors： Moorjani P,Patterson N,Hirschhorn JN,Keinan A,Hao L,Atzmon G,Burns E,Ostrer H,Price AL,Reich D

更新日期：2011-04-01 00:00:00

abstract：:Entry into mitosis is triggered by activation of Cdk1 and inactivation of its counteracting phosphatase PP2A/B55. Greatwall kinase inactivates PP2A/B55 via its substrates Ensa and ARPP19. Both Greatwall and Ensa/ARPP19 are regulated by phosphorylation, but the dynamic regulation of Greatwall activity and the phosphata...

journal_title：PLoS genetics

authors： Hégarat N,Vesely C,Vinod PK,Ocasio C,Peter N,Gannon J,Oliver AW,Novák B,Hochegger H

更新日期：2014-01-01 00:00:00

abstract：:Understanding cell proliferation mechanisms has been a long-lasting goal of the scientific community and specifically of cancer researchers. Previous genome-scale studies of cancer proliferation determinants have mainly relied on knockdown screens aimed to gauge their effects on cancer growth. This powerful approach h...

journal_title：PLoS genetics

authors： Waldman YY,Geiger T,Ruppin E

更新日期：2013-01-01 00:00:00

abstract：:DNA methylation is an ancient molecular modification found in most eukaryotes. In plants, DNA methylation is not only critical for transcriptionally silencing transposons, but can also affect phenotype by altering expression of protein coding genes. The extent of its contribution to phenotypic diversity over evolution...

journal_title：PLoS genetics

authors： Seymour DK,Koenig D,Hagmann J,Becker C,Weigel D

更新日期：2014-11-13 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.1005038.]. ...

journal_title：PLoS genetics

authors： Wen D,Rivera-Perez C,Abdou M,Jia Q,He Q,Liu X,Zyaan O,Xu J,Bendena WG,Tobe SS,Noriega FG,Palli SR,Wang J,Li S

更新日期：2017-01-20 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：: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：:Controlling infectious disease without inducing unwanted inflammatory disease requires proper regulation of the innate immune response. Thus, innate immunity needs to be activated when needed during an infection, but must be limited to prevent damage. To accomplish this, negative regulators of innate immunity limit th...

journal_title：PLoS genetics

authors： De Arras L,Alper S

更新日期：2013-10-01 00:00:00

abstract：:In flowering plants, gene expression in the haploid male gametophyte (pollen) is essential for sperm delivery and double fertilization. Pollen also undergoes dynamic epigenetic regulation of expression from transposable elements (TEs), but how this process interacts with gene expression is not clearly understood. To e...

journal_title：PLoS genetics

authors： Warman C,Panda K,Vejlupkova Z,Hokin S,Unger-Wallace E,Cole RA,Chettoor AM,Jiang D,Vollbrecht E,Evans MMS,Slotkin RK,Fowler JE

更新日期：2020-04-01 00:00:00

abstract：:Phenotypic variance heterogeneity across genotypes at a single nucleotide polymorphism (SNP) may reflect underlying gene-environment (G×E) or gene-gene interactions. We modeled variance heterogeneity for blood lipids and BMI in up to 44,211 participants and investigated relationships between variance effects (Pv), G×E...

journal_title：PLoS genetics

authors： Shungin D,Deng WQ,Varga TV,Luan J,Mihailov E,Metspalu A,GIANT Consortium.,Morris AP,Forouhi NG,Lindgren C,Magnusson PKE,Pedersen NL,Hallmans G,Chu AY,Justice AE,Graff M,Winkler TW,Rose LM,Langenberg C,Cupples LA,R

更新日期：2017-06-14 00:00:00

abstract：:Maintaining levels of calcium in the cytosol is important for many cellular events, including cell migration, where localized regions of high calcium are required to regulate cytoskeletal dynamics, contractility, and adhesion. Studies show inositol-trisphosphate receptors (IP3R) and ryanodine receptors (RyR), which re...

journal_title：PLoS genetics

authors： Praitis V,Simske J,Kniss S,Mandt R,Imlay L,Feddersen C,Miller MB,Mushi J,Liszewski W,Weinstein R,Chakravorty A,Ha DG,Schacht Farrell A,Sullivan-Wilson A,Stock T

更新日期：2013-05-01 00:00:00

abstract：:The deluge of data generated by genome sequencing has led to an increasing reliance on bioinformatic predictions, since the traditional experimental approach of characterizing gene function one at a time cannot possibly keep pace with the sequence-based discovery of novel genes. We have utilized Biolog phenotype Micro...

journal_title：PLoS genetics

authors： Johnson DA,Tetu SG,Phillippy K,Chen J,Ren Q,Paulsen IT

更新日期：2008-10-03 00:00:00

abstract：:Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, this factor remains incompletely understood. Here, we describe mutation...

journal_title：PLoS genetics

authors： Muggenthaler MM,Chowdhury B,Hasan SN,Cross HE,Mark B,Harlalka GV,Patton MA,Ishida M,Behr ER,Sharma S,Zahka K,Faqeih E,Blakley B,Jackson M,Lees M,Dolinsky V,Cross L,Stanier P,Salter C,Baple EL,Alkuraya FS,Crosby

更新日期：2017-01-12 00:00:00

abstract：:The C. elegans germline is pluripotent and mitotic, similar to self-renewing mammalian tissues. Apoptosis is triggered as part of the normal oogenesis program, and is increased in response to various stresses. Here, we examined the effect of endoplasmic reticulum (ER) stress on apoptosis in the C. elegans germline. We...

journal_title：PLoS genetics

authors： Levi-Ferber M,Salzberg Y,Safra M,Haviv-Chesner A,Bülow HE,Henis-Korenblit S

更新日期：2014-10-23 00:00:00

abstract：:Complex traits are known to be influenced by a combination of environmental factors and rare and common genetic variants. However, detection of such multivariate associations can be compromised by low statistical power and confounding by population structure. Linear mixed effects models (LMM) can account for correlati...

journal_title：PLoS genetics

authors： Bhatnagar SR,Yang Y,Lu T,Schurr E,Loredo-Osti JC,Forest M,Oualkacha K,Greenwood CMT

更新日期：2020-05-04 00:00:00

abstract：:A growing literature in human social genomics has begun to analyze how everyday life circumstances influence human gene expression. Social-environmental conditions such as urbanity, low socioeconomic status, social isolation, social threat, and low or unstable social status have been found to associate with differenti...

journal_title：PLoS genetics

authors： Cole SW

更新日期：2014-08-28 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：:Immunoregulatory cytokine interleukin-10 (IL-10) is elevated in sera from patients with systemic lupus erythematosus (SLE) correlating with disease activity. The established association of IL10 with SLE and other autoimmune diseases led us to fine map causal variant(s) and to explore underlying mechanisms. We assessed...

journal_title：PLoS genetics

authors： Sakurai D,Zhao J,Deng Y,Kelly JA,Brown EE,Harley JB,Bae SC,Alarcόn-Riquelme ME,BIOLUPUS and GENLES networks.,Edberg JC,Kimberly RP,Ramsey-Goldman R,Petri MA,Reveille JD,Vilá LM,Alarcón GS,Kaufman KM,Vyse TJ,Jacob CO,

更新日期：2013-01-01 00:00:00

abstract：:The chromosomes of eukaryotes are organized into structurally and functionally discrete domains. This implies the presence of insulator elements that separate adjacent domains, allowing them to maintain different chromatin structures. We show that the Fun30 chromatin remodeler, Fft3, is essential for maintaining a pro...

journal_title：PLoS genetics

authors： Strålfors A,Walfridsson J,Bhuiyan H,Ekwall K

更新日期：2011-03-01 00:00:00