Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila.

abstract：:Although significant variations in the metabolic profiles exist among different cells, little is understood in terms of genetic regulations of such cell type-specific metabolic phenotypes and nutrient requirements. While many cancer cells depend on exogenous glutamine for survival to justify the therapeutic targeting ...

journal_title：PLoS genetics

authors： Kung HN,Marks JR,Chi JT

更新日期：2011-08-01 00:00:00

abstract：:Determining how facultative anaerobic organisms sense and direct cellular responses to electron acceptor availability has been a subject of intense study. However, even in the model organism Escherichia coli, established mechanisms only explain a small fraction of the hundreds of genes that are regulated during electr...

journal_title：PLoS genetics

authors： Federowicz S,Kim D,Ebrahim A,Lerman J,Nagarajan H,Cho BK,Zengler K,Palsson B

更新日期：2014-04-03 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：:Gaining insights into genetic predisposition to age-related diseases and lifespan is a challenging task complicated by the elusive role of evolution in these phenotypes. To gain more insights, we combined methods of genome-wide and candidate-gene studies. Genome-wide scan in the Atherosclerosis Risk in Communities (AR...

journal_title：PLoS genetics

authors： Kulminski AM,He L,Culminskaya I,Loika Y,Kernogitski Y,Arbeev KG,Loiko E,Arbeeva L,Bagley O,Duan M,Yashkin A,Fang F,Kovtun M,Ukraintseva SV,Wu D,Yashin AI

更新日期：2016-11-10 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：:In nature, microbes often need to "decide" which of several available nutrients to utilize, a choice that depends on a cell's inherent preference and external nutrient levels. While natural environments can have mixtures of different nutrients, phenotypic variation in microbes' decisions of which nutrient to utilize i...

journal_title：PLoS genetics

authors： Lee KB,Wang J,Palme J,Escalante-Chong R,Hua B,Springer M

更新日期：2017-05-24 00:00:00

abstract：:With multiple genome-wide association studies (GWAS) performed across autoimmune diseases, there is a great opportunity to study the homogeneity of genetic architectures across autoimmune disease. Previous approaches have been limited in the scope of their analysis and have failed to properly incorporate the direction...

journal_title：PLoS genetics

authors： Sirota M,Schaub MA,Batzoglou S,Robinson WH,Butte AJ

更新日期：2009-12-01 00:00:00

abstract：:Innate immunity in Caenorhabditis elegans requires a conserved PMK-1 p38 mitogen-activated protein kinase (MAPK) pathway that regulates the basal and pathogen-induced expression of immune effectors. The mechanisms by which PMK-1 p38 MAPK regulates the transcriptional activation of the C. elegans immune response have n...

journal_title：PLoS genetics

authors： Shivers RP,Pagano DJ,Kooistra T,Richardson CE,Reddy KC,Whitney JK,Kamanzi O,Matsumoto K,Hisamoto N,Kim DH

更新日期：2010-04-01 00:00:00

abstract：:The model plant species Arabidopsis thaliana is successful at colonizing land that has recently undergone human-mediated disturbance. To investigate the prehistoric spread of A. thaliana, we applied approximate Bayesian computation and explicit spatial modeling to 76 European accessions sequenced at 876 nuclear loci. ...

journal_title：PLoS genetics

authors： François O,Blum MG,Jakobsson M,Rosenberg NA

更新日期：2008-05-16 00:00:00

abstract：:Adult skeletal muscles are maintained during homeostasis and regenerated upon injury by muscle stem cells (MuSCs). A heterogeneity in self-renewal, differentiation and regeneration properties has been reported for MuSCs based on their anatomical location. Although MuSCs derived from extraocular muscles (EOM) have a hi...

journal_title：PLoS genetics

authors： Evano B,Gill D,Hernando-Herraez I,Comai G,Stubbs TM,Commere PH,Reik W,Tajbakhsh S

更新日期：2020-10-30 00:00:00

abstract：:Meiotic crossovers (COs) are important for reshuffling genetic information between homologous chromosomes and they are essential for their correct segregation. COs are unevenly distributed along chromosomes and the underlying mechanisms controlling CO localization are not well understood. We previously showed that mei...

journal_title：PLoS genetics

authors： Christophorou N,She W,Long J,Hurel A,Beaubiat S,Idir Y,Tagliaro-Jahns M,Chambon A,Solier V,Vezon D,Grelon M,Feng X,Bouché N,Mézard C

更新日期：2020-06-29 00:00:00

abstract：:One of the most powerful techniques for studying the function of a gene is to disrupt the expression of that gene using genetic engineering strategies such as targeted recombination or viral integration of gene trap cassettes. The tremendous utility of these tools was recognized this year with the awarding of the Nobe...

journal_title：PLoS genetics

authors： Osokine I,Hsu R,Loeb GB,McManus MT

更新日期：2008-02-01 00:00:00

abstract：:We recently discovered a secreted and diffusible midline cue called MADD-4 (an ADAMTSL) that guides migrations along the dorsoventral axis of the nematode Caenorhabditis elegans. We showed that the transmembrane receptor, UNC-40 (DCC), whose canonical ligand is the UNC-6 (netrin) guidance cue, is required for extensio...

journal_title：PLoS genetics

authors： Chan KK,Seetharaman A,Bagg R,Selman G,Zhang Y,Kim J,Roy PJ

更新日期：2014-08-14 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：:Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous muta...

journal_title：PLoS genetics

authors： Rainger J,van Beusekom E,Ramsay JK,McKie L,Al-Gazali L,Pallotta R,Saponari A,Branney P,Fisher M,Morrison H,Bicknell L,Gautier P,Perry P,Sokhi K,Sexton D,Bardakjian TM,Schneider AS,Elcioglu N,Ozkinay F,Koenig R,Még

更新日期：2011-07-01 00:00:00

abstract：:In order to study the role played by cellular RNA pools produced by homologous genomic loci in defining the transcriptional state of a silenced gene, we tested the effect of non-functional alleles of the white gene in the presence of a functional copy of white, silenced by heterochromatin. We found that non-functional...

journal_title：PLoS genetics

authors： Onorati MC,Arancio W,Cavalieri V,Ingrassia AM,Pavesi G,Corona DF

更新日期：2015-08-20 00:00:00

abstract：:Cockayne syndrome (CS) is a devastating progeria most often caused by mutations in the CSB gene encoding a SWI/SNF family chromatin remodeling protein. Although all CSB mutations that cause CS are recessive, the complete absence of CSB protein does not cause CS. In addition, most CSB mutations are located beyond exon ...

journal_title：PLoS genetics

authors： Newman JC,Bailey AD,Fan HY,Pavelitz T,Weiner AM

更新日期：2008-03-21 00:00:00

abstract：:High glucose diets are unhealthy, although the mechanisms by which elevated glucose is harmful to whole animal physiology are not well understood. In Caenorhabditis elegans, high glucose shortens lifespan, while chemically inflicted glucose restriction promotes longevity. We investigated the impact of glucose metaboli...

journal_title：PLoS genetics

authors： Onken B,Kalinava N,Driscoll M

更新日期：2020-08-25 00:00:00

abstract：:Genome-wide scans for positively selected genes (PSGs) in mammals have provided insight into the dynamics of genome evolution, the genetic basis of differences between species, and the functions of individual genes. However, previous scans have been limited in power and accuracy owing to small numbers of available gen...

journal_title：PLoS genetics

authors： Kosiol C,Vinar T,da Fonseca RR,Hubisz MJ,Bustamante CD,Nielsen R,Siepel A

更新日期：2008-08-01 00:00:00

abstract：:Genetic diversity across different human populations can enhance understanding of the genetic basis of disease. We calculated the genetic risk of 102 diseases in 1,043 unrelated individuals across 51 populations of the Human Genome Diversity Panel. We found that genetic risk for type 2 diabetes and pancreatic cancer d...

journal_title：PLoS genetics

authors： Corona E,Chen R,Sikora M,Morgan AA,Patel CJ,Ramesh A,Bustamante CD,Butte AJ

更新日期：2013-05-01 00:00:00

abstract：:The 2,2,7-trimethylguanosine (TMG) cap is one of the first identified modifications on eukaryotic RNAs. TMG, synthesized by the conserved Tgs1 enzyme, is abundantly present on snRNAs essential for pre-mRNA splicing. Results from ex vivo experiments in vertebrate cells suggested that TMG ensures nuclear localization of...

journal_title：PLoS genetics

authors： Cheng L,Zhang Y,Zhang Y,Chen T,Xu YZ,Rong YS

更新日期：2020-10-21 00:00:00

abstract：:Epigenetic regulation of gene expression, including by Polycomb Group (PcG) proteins, may depend on heritable chromatin states, but how these states can be propagated through mitosis is unclear. Using immunofluorescence and biochemical fractionation, we find PcG proteins associated with mitotic chromosomes in Drosophi...

journal_title：PLoS genetics

authors： Follmer NE,Wani AH,Francis NJ

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：:Reproductive proteins are among the fastest evolving in the proteome, often due to the consequences of positive selection, and their rapid evolution is frequently attributed to a coevolutionary process between interacting female and male proteins. Such a process could leave characteristic signatures at coevolving gene...

journal_title：PLoS genetics

authors： Clark NL,Gasper J,Sekino M,Springer SA,Aquadro CF,Swanson WJ

更新日期：2009-07-01 00:00:00

abstract：:To understand the genetic mechanisms leading to phenotypic differentiation, it is important to identify genomic regions under selection. We scanned the genome of two chicken lines from a single trait selection experiment, where 50 generations of selection have resulted in a 9-fold difference in body weight. Analyses o...

journal_title：PLoS genetics

authors： Johansson AM,Pettersson ME,Siegel PB,Carlborg O

更新日期：2010-11-04 00:00:00

abstract：:Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 repeats on chromosome 4q. How contraction of the 4qter D4Z4 repeats c...

journal_title：PLoS genetics

authors： Zeng W,de Greef JC,Chen YY,Chien R,Kong X,Gregson HC,Winokur ST,Pyle A,Robertson KD,Schmiesing JA,Kimonis VE,Balog J,Frants RR,Ball AR Jr,Lock LF,Donovan PJ,van der Maarel SM,Yokomori K

更新日期：2009-07-01 00:00:00

abstract：:Size control is essential for all proliferating cells, and is thought to be regulated by checkpoints that couple cell size to cell cycle progression. The aberrant cell-size phenotypes caused by mutations in the retinoblastoma (RB) tumor suppressor pathway are consistent with a role in size checkpoint control, but indi...

journal_title：PLoS genetics

authors： Fang SC,de los Reyes C,Umen JG

更新日期：2006-10-13 00:00:00

abstract：:The vast majority of meiotic recombination events (crossovers (COs) and non-crossovers (NCOs)) cluster in narrow hotspots surrounded by large regions devoid of recombinational activity. Here, using a new molecular approach in plants, called "pollen-typing", we detected and characterized hundreds of CO and NCO molecule...

journal_title：PLoS genetics

authors： Drouaud J,Khademian H,Giraut L,Zanni V,Bellalou S,Henderson IR,Falque M,Mézard C

更新日期：2013-11-01 00:00:00

abstract：:We propose a novel statistical framework for integrating the result from molecular quantitative trait loci (QTL) mapping into genome-wide genetic association analysis of complex traits, with the primary objectives of quantitatively assessing the enrichment of the molecular QTLs in complex trait-associated genetic vari...

journal_title：PLoS genetics

authors： Wen X,Pique-Regi R,Luca F

更新日期：2017-03-09 00:00:00

abstract：:Allotetraploid cotton species are a vital source of spinnable fiber for textiles. The polyploid nature of the cotton genome raises many evolutionary questions as to the relationships between duplicated genomes. We describe the evolution of the cotton genome (SNPs and structural variants) with the greatly improved reso...

journal_title：PLoS genetics

authors： Page JT,Liechty ZS,Alexander RH,Clemons K,Hulse-Kemp AM,Ashrafi H,Van Deynze A,Stelly DM,Udall JA

更新日期：2016-05-11 00:00:00