Genome-wide effects of long-term divergent selection.

abstract：:Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained. Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and s...

journal_title：PLoS genetics

authors： Deml B,Kariminejad A,Borujerdi RH,Muheisen S,Reis LM,Semina EV

更新日期：2015-02-26 00:00:00

abstract：:We report association mapping of a locus on bovine chromosome 3 that underlies a Mendelian form of stunted growth in Belgian Blue Cattle (BBC). By resequencing positional candidates, we identify the causative c124-2A>G splice variant in intron 1 of the RNF11 gene, for which all affected animals are homozygous. We make...

journal_title：PLoS genetics

authors： Sartelet A,Druet T,Michaux C,Fasquelle C,Géron S,Tamma N,Zhang Z,Coppieters W,Georges M,Charlier C

更新日期：2012-01-01 00:00:00

abstract：:Human cancer is caused by the interplay of mutations in oncogenes and tumor suppressor genes and inherited variations in cancer susceptibility genes. While many of the tumor initiating mutations are well characterized, the effect of genetic background variation on disease onset and progression is less understood. We h...

journal_title：PLoS genetics

authors： Schmid T,Snoek LB,Fröhli E,van der Bent ML,Kammenga J,Hajnal A

更新日期：2015-05-15 00:00:00

abstract：:Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...

journal_title：PLoS genetics

authors： Tseng SF,Gabriel A,Teng SC

更新日期：2008-04-25 00:00:00

abstract：:Shifts between epigenetic states of transcriptional activity are typically correlated with changes in epigenetic marks. However, exceptions to this rule suggest the existence of additional, as yet uncharacterized, layers of epigenetic regulation. MOM1, a protein of 2,001 amino acids that acts as a transcriptional sile...

journal_title：PLoS genetics

authors： Nishimura T,Molinard G,Petty TJ,Broger L,Gabus C,Halazonetis TD,Thore S,Paszkowski J

更新日期：2012-02-01 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：:In many cases protein assemblies are stabilized by covalent bonds, one example of which is the formation of intra- or intermolecular ε-(γ-glutamyl)lysil cross-links catalyzed by transglutaminases (TGases). Because of the potential for unwanted cross-linking reactions, the activities of many TGases have been shown to b...

journal_title：PLoS genetics

authors： Fernandes CG,Martins D,Hernandez G,Sousa AL,Freitas C,Tranfield EM,Cordeiro TN,Serrano M,Moran CP Jr,Henriques AO

更新日期：2019-04-08 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：:Leucine-rich repeat kinase 2 (LRRK2) is a key molecule in the pathogenesis of familial and idiopathic Parkinson's disease (PD). We have identified two novel LRRK2-associated proteins, a HECT-type ubiquitin ligase, HERC2, and an adaptor-like protein with six repeated Neuralized domains, NEURL4. LRRK2 binds to NEURL4 an...

journal_title：PLoS genetics

authors： Imai Y,Kobayashi Y,Inoshita T,Meng H,Arano T,Uemura K,Asano T,Yoshimi K,Zhang CL,Matsumoto G,Ohtsuka T,Kageyama R,Kiyonari H,Shioi G,Nukina N,Hattori N,Takahashi R

更新日期：2015-09-10 00:00:00

abstract：:Metabolic homeostasis in metazoans is regulated by endocrine control of insulin/IGF signaling (IIS) activity. Stress and inflammatory signaling pathways--such as Jun-N-terminal Kinase (JNK) signaling--repress IIS, curtailing anabolic processes to promote stress tolerance and extend lifespan. While this interaction con...

journal_title：PLoS genetics

authors： Hull-Thompson J,Muffat J,Sanchez D,Walker DW,Benzer S,Ganfornina MD,Jasper H

更新日期：2009-04-01 00:00:00

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：: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：:Curly, described almost a century ago, is one of the most frequently used markers in Drosophila genetics. Despite this the molecular identity of Curly has remained obscure. Here we show that Curly mutations arise in the gene dual oxidase (duox), which encodes a reactive oxygen species (ROS) generating NADPH oxidase. U...

journal_title：PLoS genetics

authors： Hurd TR,Liang FX,Lehmann R

更新日期：2015-11-20 00:00:00

abstract：:Phosphorylated Spo0A is a master regulator of stationary phase development in the model bacterium Bacillus subtilis, controlling the formation of spores, biofilms, and cells competent for transformation. We have monitored the rate of transcription of the spo0A gene during growth in sporulation medium using promoter fu...

journal_title：PLoS genetics

authors： Mirouze N,Prepiak P,Dubnau D

更新日期：2011-04-01 00:00:00

abstract：:The genetics of lymphoma susceptibility reflect the marked heterogeneity of diseases that comprise this broad phenotype. However, multiple subtypes of lymphoma are observed in some families, suggesting shared pathways of genetic predisposition to these pathologically distinct entities. Using a two-stage GWAS, we teste...

journal_title：PLoS genetics

authors： Vijai J,Kirchhoff T,Schrader KA,Brown J,Dutra-Clarke AV,Manschreck C,Hansen N,Rau-Murthy R,Sarrel K,Przybylo J,Shah S,Cheguri S,Stadler Z,Zhang L,Paltiel O,Ben-Yehuda D,Viale A,Portlock C,Straus D,Lipkin SM,Lacher

更新日期：2013-01-01 00:00:00

abstract：:Opportunistic infections caused by Pseudomonas aeruginosa can be acute or chronic. While acute infections often spread rapidly and can cause tissue damage and sepsis with high mortality rates, chronic infections can persist for weeks, months, or years in the face of intensive clinical intervention. Remarkably, this di...

journal_title：PLoS genetics

authors： Turner KH,Everett J,Trivedi U,Rumbaugh KP,Whiteley M

更新日期：2014-07-24 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：:Fragile X syndrome, a common form of inherited mental retardation, is caused by the loss of fragile X mental retardation protein (FMRP). We have previously demonstrated that dFmr1, the Drosophila ortholog of the fragile X mental retardation 1 gene, plays a role in the proper maintenance of germline stem cells in Droso...

journal_title：PLoS genetics

authors： Yang Y,Xu S,Xia L,Wang J,Wen S,Jin P,Chen D

更新日期：2009-04-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of renal cysts that destroy the kidney. Mutations in PKD1 and PKD2, encoding polycystins-1 and -2, cause ADPKD. Polycystins are thought to function in primary cilia, but it is not well understood how these and other proteins are targete...

journal_title：PLoS genetics

authors： Fogelgren B,Lin SY,Zuo X,Jaffe KM,Park KM,Reichert RJ,Bell PD,Burdine RD,Lipschutz JH

更新日期：2011-04-01 00:00:00

abstract：:Studies of the severely pancytopenic scat mouse model first demonstrated the crucial role of RASA3, a dual RAS and RAP GTPase activating protein (GAP), in hematopoiesis. RASA3 is required for survival in utero; germline deletion is lethal at E12.5-13.5 due to severe hemorrhage. Here, conditional deletion in hematopoie...

journal_title：PLoS genetics

authors： Robledo RF,Ciciotte SL,Graber JH,Zhao Y,Lambert AJ,Gwynn B,Maki NJ,Brindley EC,Hartman E,Blanc L,Peters LL

更新日期：2020-12-28 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：:To identify genetic loci influencing bone accrual, we performed a genome-wide association scan for total-body bone mineral density (TB-BMD) variation in 2,660 children of different ethnicities. We discovered variants in 7q31.31 associated with BMD measurements, with the lowest P = 4.1 × 10(-11) observed for rs917727 w...

journal_title：PLoS genetics

authors： Medina-Gomez C,Kemp JP,Estrada K,Eriksson J,Liu J,Reppe S,Evans DM,Heppe DH,Vandenput L,Herrera L,Ring SM,Kruithof CJ,Timpson NJ,Zillikens MC,Olstad OK,Zheng HF,Richards JB,St Pourcain B,Hofman A,Jaddoe VW,Smith G

更新日期：2012-07-01 00:00:00

abstract：:Using data from primates, we show that molecular clocks in sites that have been part of a CpG dinucleotide in recent past (CpG sites) and non-CpG sites are of markedly different nature, reflecting differences in their molecular origins. Notably, single nucleotide substitutions at non-CpG sites show clear generation-ti...

journal_title：PLoS genetics

authors： Kim SH,Elango N,Warden C,Vigoda E,Yi SV

更新日期：2006-10-06 00:00:00

abstract：:Complete metamorphosis (Holometaboly) is a key innovation that underlies the spectacular success of holometabolous insects. Phylogenetic analyses indicate that Holometabola form a monophyletic group that evolved from ancestors exhibiting hemimetabolous development (Hemimetaboly). However, the nature of the changes und...

journal_title：PLoS genetics

authors： Ureña E,Chafino S,Manjón C,Franch-Marro X,Martín D

更新日期：2016-05-02 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：:Genetic background exerts a strong modulatory effect on the toxicity of aggregation-prone proteins in conformational diseases. In addition to influencing the misfolding and aggregation behavior of the mutant proteins, polymorphisms in putative modifier genes may affect the molecular processes leading to the disease ph...

journal_title：PLoS genetics

authors： Gidalevitz T,Krupinski T,Garcia S,Morimoto RI

更新日期：2009-03-01 00:00:00

abstract：:The human genome encodes thousands of long noncoding RNA (lncRNA) genes; the function of majority of them is poorly understood. Aberrant expression of a significant number of lncRNAs is observed in various diseases, including cancer. To gain insights into the role of lncRNAs in breast cancer progression, we performed ...

journal_title：PLoS genetics

authors： Jadaliha M,Gholamalamdari O,Tang W,Zhang Y,Petracovici A,Hao Q,Tariq A,Kim TG,Holton SE,Singh DK,Li XL,Freier SM,Ambs S,Bhargava R,Lal A,Prasanth SG,Ma J,Prasanth KV

更新日期：2018-11-29 00:00:00

abstract：:The genetic impact associated to the Neolithic spread in Europe has been widely debated over the last 20 years. Within this context, ancient DNA studies have provided a more reliable picture by directly analyzing the protagonist populations at different regions in Europe. However, the lack of available data from the o...

journal_title：PLoS genetics

authors： Fernández E,Pérez-Pérez A,Gamba C,Prats E,Cuesta P,Anfruns J,Molist M,Arroyo-Pardo E,Turbón D

更新日期：2014-06-05 00:00:00

abstract：:While there has been much recent focus on the ecological causes of adaptive diversification, we know less about the genetic nature of the trade-offs in resource use that create and maintain stable, diversified ecotypes. Here we show how a regulatory genetic change can contribute to sympatric diversification caused by ...

journal_title：PLoS genetics

authors： Spencer CC,Bertrand M,Travisano M,Doebeli M

更新日期：2007-01-19 00:00:00

abstract：:A variety of pathologies are associated with exposure to supraphysiological concentrations of essential metals and to non-essential metals and metalloids. The molecular mechanisms linking metal exposure to human pathologies have not been clearly defined. To address these gaps in our understanding of the molecular biol...

journal_title：PLoS genetics

authors： Jin YH,Dunlap PE,McBride SJ,Al-Refai H,Bushel PR,Freedman JH

更新日期：2008-04-25 00:00:00