Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.

abstract：:Bacteria encode a single-stranded DNA (ssDNA) binding protein (SSB) crucial for genome maintenance. In Bacillus subtilis and Streptococcus pneumoniae, an alternative SSB, SsbB, is expressed uniquely during competence for genetic transformation, but its precise role has been disappointingly obscure. Here, we report our...

journal_title：PLoS genetics

authors： Attaiech L,Olivier A,Mortier-Barrière I,Soulet AL,Granadel C,Martin B,Polard P,Claverys JP

更新日期：2011-06-01 00:00:00

abstract：:Neuronal cargos are differentially targeted to either axons or dendrites, and this polarized cargo targeting critically depends on the interaction between microtubules and molecular motors. From a forward mutagenesis screen, we identified a gain-of-function mutation in the C. elegans α-tubulin gene mec-12 that trigger...

journal_title：PLoS genetics

authors： Hsu JM,Chen CH,Chen YC,McDonald KL,Gurling M,Lee A,Garriga G,Pan CL

更新日期：2014-11-13 00:00:00

abstract：:Elongator complex is required for formation of the side chains at position 5 of modified nucleosides 5-carbamoylmethyluridine (ncm⁵U₃₄), 5-methoxycarbonylmethyluridine (mcm⁵U₃₄), and 5-methoxycarbonylmethyl-2-thiouridine (mcm⁵s²U₃₄) at wobble position in tRNA. These modified nucleosides are important for efficient dec...

journal_title：PLoS genetics

authors： Chen C,Huang B,Eliasson M,Rydén P,Byström AS

更新日期：2011-09-01 00:00:00

abstract：:As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still duplicating, generating variation between individual genomes. Mobile element insertions (MEI) have been identified as cau...

journal_title：PLoS genetics

authors： Stewart C,Kural D,Strömberg MP,Walker JA,Konkel MK,Stütz AM,Urban AE,Grubert F,Lam HY,Lee WP,Busby M,Indap AR,Garrison E,Huff C,Xing J,Snyder MP,Jorde LB,Batzer MA,Korbel JO,Marth GT,1000 Genomes Project.

更新日期：2011-08-01 00:00:00

abstract：:Domesticated Asian rice (Oryza sativa) is one of the oldest domesticated crop species in the world, having fed more people than any other plant in human history. We report the patterns of DNA sequence variation in rice and its wild ancestor, O. rufipogon, across 111 randomly chosen gene fragments, and use these to inf...

journal_title：PLoS genetics

authors： Caicedo AL,Williamson SH,Hernandez RD,Boyko A,Fledel-Alon A,York TL,Polato NR,Olsen KM,Nielsen R,McCouch SR,Bustamante CD,Purugganan MD

更新日期：2007-09-01 00:00:00

abstract：:A robust, bistable switch regulates the fluctuations between wakefulness and natural sleep as well as those between wakefulness and anesthetic-induced unresponsiveness. We previously provided experimental evidence for the existence of a behavioral barrier to transitions between these states of arousal, which we call n...

journal_title：PLoS genetics

authors： Joiner WJ,Friedman EB,Hung HT,Koh K,Sowcik M,Sehgal A,Kelz MB

更新日期：2013-01-01 00:00:00

abstract：:Codon usage bias affects protein translation because tRNAs that recognize synonymous codons differ in their abundance. Although the current dogma states that tRNA expression is exclusively regulated by intrinsic control elements (A- and B-box sequences), we revealed, using a reporter that monitors the levels of indivi...

journal_title：PLoS genetics

authors： Sagi D,Rak R,Gingold H,Adir I,Maayan G,Dahan O,Broday L,Pilpel Y,Rechavi O

更新日期：2016-08-25 00:00:00

abstract：:Sodalis glossinidius, a maternally inherited endosymbiont of the tsetse fly, maintains genes encoding homologues of the PhoP-PhoQ two-component regulatory system. This two-component system has been extensively studied in facultative bacterial pathogens and is known to serve as an environmental magnesium sensor and a r...

journal_title：PLoS genetics

authors： Pontes MH,Smith KL,De Vooght L,Van Den Abbeele J,Dale C

更新日期：2011-11-01 00:00:00

abstract：:Structural features of genomes, including the three-dimensional arrangement of DNA in the nucleus, are increasingly seen as key contributors to the regulation of gene expression. However, studies on how genome structure and nuclear organisation influence transcription have so far been limited to a handful of model spe...

journal_title：PLoS genetics

authors： Winter DJ,Ganley ARD,Young CA,Liachko I,Schardl CL,Dupont PY,Berry D,Ram A,Scott B,Cox MP

更新日期：2018-10-24 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：: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：:Seam cells in Caenorhabditis elegans provide a paradigm for the stem cell mode of division, with the ability to both self-renew and produce daughters that differentiate. The transcription factor RNT-1 and its DNA binding partner BRO-1 (homologues of the mammalian cancer-associated stem cell regulators RUNX and CBFβ, r...

journal_title：PLoS genetics

authors： Brabin C,Appleford PJ,Woollard A

更新日期：2011-08-01 00:00:00

abstract：:A form of dwarfism known as Meier-Gorlin syndrome (MGS) is caused by recessive mutations in one of six different genes (ORC1, ORC4, ORC6, CDC6, CDT1, and MCM5). These genes encode components of the pre-replication complex, which assembles at origins of replication prior to S phase. Also, variants in two additional rep...

journal_title：PLoS genetics

authors： Sanchez JC,Kwan EX,Pohl TJ,Amemiya HM,Raghuraman MK,Brewer BJ

更新日期：2017-10-16 00:00:00

abstract：:Double strand breaks (DSBs) and interstrand crosslinks (ICLs) are toxic DNA lesions that can be repaired through multiple pathways, some of which involve shared proteins. One of these proteins, DNA Polymerase θ (Pol θ), coordinates a mutagenic DSB repair pathway named microhomology-mediated end joining (MMEJ) and is a...

journal_title：PLoS genetics

authors： Beagan K,Armstrong RL,Witsell A,Roy U,Renedo N,Baker AE,Schärer OD,McVey M

更新日期：2017-05-25 00:00:00

abstract：:Rheumatoid arthritis is a chronic inflammatory disease with a high prevalence and substantial socioeconomic burden. Despite intense research efforts, its aetiology and pathogenesis remain poorly understood. To identify novel genes and/or cellular pathways involved in the pathogenesis of the disease, we utilized a well...

journal_title：PLoS genetics

authors： Aidinis V,Carninci P,Armaka M,Witke W,Harokopos V,Pavelka N,Koczan D,Argyropoulos C,Thwin MM,Möller S,Waki K,Gopalakrishnakone P,Ricciardi-Castagnoli P,Thiesen HJ,Hayashizaki Y,Kollias G

更新日期：2005-10-01 00:00:00

abstract：:Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing the rate-limiting step in collagen folding. Mutations in PPIB cause re...

journal_title：PLoS genetics

authors： Cabral WA,Perdivara I,Weis M,Terajima M,Blissett AR,Chang W,Perosky JE,Makareeva EN,Mertz EL,Leikin S,Tomer KB,Kozloff KM,Eyre DR,Yamauchi M,Marini JC

更新日期：2014-06-26 00:00:00

abstract：:Replicative DNA helicases expose the two strands of the double helix to the replication apparatus, but accessory helicases are often needed to help forks move past naturally occurring hard-to-replicate sites, such as tightly bound proteins, RNA/DNA hybrids, and DNA secondary structures. Although the Schizosaccharomyce...

journal_title：PLoS genetics

authors： McDonald KR,Guise AJ,Pourbozorgi-Langroudi P,Cristea IM,Zakian VA,Capra JA,Sabouri N

更新日期：2016-09-09 00:00:00

abstract：:The rate of germline mutation varies widely between species but little is known about the extent of variation in the germline mutation rate between individuals of the same species. Here we demonstrate that an allele that increases the rate of germline mutation can result in a distinctive signature in the genomic regio...

journal_title：PLoS genetics

authors： Seoighe C,Scally A

更新日期：2017-01-17 00:00:00

abstract：:The Cleavage Factor 1A (CF1A) complex, which is required for the termination of transcription in budding yeast, occupies the 3' end of transcriptionally active genes. We recently demonstrated that CF1A subunits also crosslink to the 5' end of genes during transcription. The presence of CF1A complex at the promoter sug...

journal_title：PLoS genetics

authors： Al Husini N,Kudla P,Ansari A

更新日期：2013-01-01 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：:Malaria parasites follow a complex life cycle that consists of multiple stages that span from the human host to the mosquito vector. Among the species causing malaria, Plasmodium falciparum is the most lethal, with clinical symptoms manifesting during the intraerythrocytic developmental cycle (IDC). During the IDC, P....

journal_title：PLoS genetics

authors： Walzer KA,Fradin H,Emerson LY,Corcoran DL,Chi JT

更新日期：2019-12-19 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

abstract：:Demographic models built from genetic data play important roles in illuminating prehistorical events and serving as null models in genome scans for selection. We introduce an inference method based on the joint frequency spectrum of genetic variants within and between populations. For candidate models we numerically c...

journal_title：PLoS genetics

authors： Gutenkunst RN,Hernandez RD,Williamson SH,Bustamante CD

更新日期：2009-10-01 00:00:00

abstract：:Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...

journal_title：PLoS genetics

authors： Eberle MA,Rieder MJ,Kruglyak L,Nickerson DA

更新日期：2006-09-08 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：: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：:Neural stem cell self-renewal, neurogenesis, and cell fate determination are processes that control the generation of specific classes of neurons at the correct place and time. The transcription factor Pax6 is essential for neural stem cell proliferation, multipotency, and neurogenesis in many regions of the central n...

journal_title：PLoS genetics

authors： Sansom SN,Griffiths DS,Faedo A,Kleinjan DJ,Ruan Y,Smith J,van Heyningen V,Rubenstein JL,Livesey FJ

更新日期：2009-06-01 00:00:00

abstract：:Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-trans...

journal_title：PLoS genetics

authors： Labelle-Dumais C,Dilworth DJ,Harrington EP,de Leau M,Lyons D,Kabaeva Z,Manzini MC,Dobyns WB,Walsh CA,Michele DE,Gould DB

更新日期：2011-05-01 00:00:00

abstract：:Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS) have recently identified common single nucleo...

journal_title：PLoS genetics

authors： Orr N,Cooke R,Jones M,Fletcher O,Dudbridge F,Chilcott-Burns S,Tomczyk K,Broderick P,Houlston R,Ashworth A,Swerdlow A

更新日期：2011-09-01 00:00:00

abstract：:Mp is an irradiation-induced mouse mutation associated with microphthalmia, micropinna and hind limb syndactyly. We show that Mp is caused by a 660 kb balanced inversion on chromosome 18 producing reciprocal 3-prime gene fusion events involving Fbn2 and Isoc1. The Isoc1-Fbn2 fusion gene (Isoc1(Mp)) mRNA has a frameshi...

journal_title：PLoS genetics

authors： Rainger J,Keighren M,Keene DR,Charbonneau NL,Rainger JK,Fisher M,Mella S,Huang JT,Rose L,van't Hof R,Sakai LY,Jackson IJ,Fitzpatrick DR

更新日期：2013-01-01 00:00:00