WorldWideScience

Sample records for underlying genetics responsiveness

  1. Genetic Parameters And Selection Response For Yield Traits In Bread Wheat Under Irrigated And Rainfed Environments

    Science.gov (United States)

    Khalil, Iftikhar Hussain; at-ur-Rahman, Hiday; Khan, Imran

    2008-01-01

    A set of 22 F5:7 experimental wheat lines along with four check cultivars (Dera-98, Fakhr-e-Sarhad, Ghaznavi-98 and Tatara) were evaluated as independent experiments under irrigated and rainfed environments using a randomized complete block design at NWFP Agricultural University, Peshawar during 2004-05. The two environments were statistically different for days to heading and spike length only. Highly significant genetic variability existed among the wheat lines (P<0.01) in the combined analysis across environments for all traits. Genotype×environment interactions were non-significant for all traits except 1000-grain weight indicating consistent performance of wheat genotypes across the two environments. Wheat lines and check cultivars were 2 to 5 days early in heading under rainfed environment compared to the irrigated. Plant height, spike length, 1000-grain weight, biological and grain yields were generally reduced under rainfed environment. Genetic variances were of greater magnitude than environmental variances for most of the traits in both environments. The heritability estimates were of higher magnitude (0.74 to 0.96) for days to heading, plant height, spike length, biological and grain yield, while medium (0.31 to 0.51) for 1000-grain weight. Selection differentials were negative for heading (-7.3 days in irrigated vs -9.4 days in rainfed) and plant height (-9.0 cm in irrigated vs -8.7 cm in rainfed) indicating possibility of selecting wheat genotypes with early heading and short plant stature. Positive selection differentials of 1.3 vs 1.6 cm for spike length, 3.8 vs 3.4 g for 1000-grain weight, 2488.2 vs 3139.7 kg ha-1 for biological yield and 691.6 vs 565.4 kg ha-1 for grain yield at 20% selection intensity were observed under irrigated and rainfed environments, respectively. Expected selection responses were 7.98 vs 8.91 days for heading, 8.20 vs 9.52 cm for plant height, 1.01 vs 1.61 cm for spike length, 2.12 vs 1.15 g for 1000-grain weight, 1655

  2. Modelled in vivo HIV fitness under drug selective pressure and estimated genetic barrier towards resistance are predictive for virological response

    DEFF Research Database (Denmark)

    Deforche, Koen; Cozzi-Lepri, Alessandro; Theys, Kristof

    2008-01-01

    BACKGROUND: A method has been developed to estimate a fitness landscape experienced by HIV-1 under treatment selective pressure as a function of the genotypic sequence thereby also estimating the genetic barrier to resistance. METHODS: We evaluated the performance of two estimated fitness landsca...

  3. Different responsiveness to a high-fat/cholesterol diet in two inbred mice and underlying genetic factors: a whole genome microarray analysis

    Directory of Open Access Journals (Sweden)

    Jin Gang

    2009-10-01

    Full Text Available Abstract Background To investigate different responses to a high-fat/cholesterol diet and uncover their underlying genetic factors between C57BL/6J (B6 and DBA/2J (D2 inbred mice. Methods B6 and D2 mice were fed a high-fat/cholesterol diet for a series of time-points. Serum and bile lipid profiles, bile acid yields, hepatic apoptosis, gallstones and atherosclerosis formation were measured. Furthermore, a whole genome microarray was performed to screen hepatic genes expression profile. Quantitative real-time PCR, western blot and TUNEL assay were conducted to validate microarray data. Results After fed the high-fat/cholesterol diet, serum and bile total cholesterol, serum cholesterol esters, HDL cholesterol and Non-HDL cholesterol levels were altered in B6 but not significantly changed in D2; meanwhile, biliary bile acid was decreased in B6 but increased in D2. At the same time, hepatic apoptosis, gallstones and atherosclerotic lesions occurred in B6 but not in D2. The hepatic microarray analysis revealed distinctly different genes expression patterns between B6 and D2 mice. Their functional pathway groups included lipid metabolism, oxidative stress, immune/inflammation response and apoptosis. Quantitative real time PCR, TUNEL assay and western-blot results were consistent with microarray analysis. Conclusion Different genes expression patterns between B6 and D2 mice might provide a genetic basis for their distinctive responses to a high-fat/cholesterol diet, and give us an opportunity to identify novel pharmaceutical targets in related diseases in the future.

  4. A common genetic factor underlies hypertension and other cardiovascular disorders

    Directory of Open Access Journals (Sweden)

    Spector Tim D

    2004-11-01

    Full Text Available Abstract Background Certain conditions characterised by blood vessel occlusion or vascular spasm have been found to cluster together in epidemiological studies. However the biological causes for these associations remain controversial. This study used a classical twin design to examine whether these conditions are linked through shared environmental exposures or by a common underlying genetic propensity to vasospasm. Methods We investigated the association between hypertension, migraine, Raynaud's phenomenon and coronary artery disease in twins from a national register. Phenotype status was determined using a questionnaire and the genetic and environmental association between phenotypes was estimated through variance components analysis. Results Responses were obtained from 2,204 individuals comprising 525 monozygotic and 577 dizygotic pairs. There was a significant genetic contribution to all four traits with heritabilities ranging from 0.34 to 0.64. Multivariate model-fitting demonstrated that a single common genetic factor underlies the four conditions. Conclusions We have confirmed an association between hypertension, migraine, Raynaud's phenomenon and coronary artery disease, and shown that a single genetic factor underlies them. The demonstration of a shared genetic factor explains the association between them and adds weight to the theory of an inherited predisposition to vasospasm.

  5. Genetic and physiological controls of growth under water deficit.

    Science.gov (United States)

    Tardieu, François; Parent, Boris; Caldeira, Cecilio F; Welcker, Claude

    2014-04-01

    The sensitivity of expansive growth to water deficit has a large genetic variability, which is higher than that of photosynthesis. It is observed in several species, with some genotypes stopping growth in a relatively wet soil, whereas others continue growing until the lower limit of soil-available water. The responses of growth to soil water deficit and evaporative demand share an appreciable part of their genetic control through the colocation of quantitative trait loci as do the responses of the growth of different organs to water deficit. This result may be caused by common mechanisms of action discussed in this paper (particularly, plant hydraulic properties). We propose that expansive growth, putatively linked to hydraulic processes, determines the sink strength under water deficit, whereas photosynthesis determines source strength. These findings have large consequences for plant modeling under water deficit and for the design of breeding programs.

  6. The Genetic and Environmental Factors Underlying Hypospadias

    Science.gov (United States)

    Pask, Andrew; Heloury, Yves; Sinclair, Andrew H.

    2016-01-01

    Hypospadias results from a failure of urethral closure in the male phallus and affects 1 in 200–300 boys. It is thought to be due to a combination of genetic and environmental factors. The development of the penis progresses in 2 stages: an initial hormone-independent phase and a secondary hormone-dependent phase. Here, we review the molecular pathways that contribute to each of these stages, drawing on studies from both human and mouse models. Hypospadias can occur when normal development of the phallus is disrupted, and we provide evidence that mutations in genes underlying this developmental process are causative. Finally, we discuss the environmental factors that may contribute to hypospadias and their potential immediate and transgen erational epigenetic impacts. PMID:26613581

  7. Monitoring adaptive genetic responses to environmental change

    DEFF Research Database (Denmark)

    Hansen, M.M.; Olivieri, I.; Waller, D.M.

    2012-01-01

    Widespread environmental changes including climate change, selective harvesting and landscape alterations now greatly affect selection regimes for most organisms. How animals and plants can adapt to these altered environments via contemporary evolution is thus of strong interest. We discuss how...... to use genetic monitoring to study adaptive responses via repeated analysis of the same populations over time, distinguishing between phenotypic and molecular genetics approaches. After describing monitoring designs, we develop explicit criteria for demonstrating adaptive responses, which include testing...... for selection and establishing clear links between genetic and environmental change. We then review a few exemplary studies that explore adaptive responses to climate change in Drosophila, selective responses to hunting and fishing, and contemporary evolution in Daphnia using resurrected resting eggs. We...

  8. Bistable responses in bacterial genetic networks: Designs and dynamical consequences

    Science.gov (United States)

    Tiwari, Abhinav; Ray, J. Christian J.; Narula, Jatin; Igoshin, Oleg A.

    2011-01-01

    A key property of living cells is their ability to react to stimuli with specific biochemical responses. These responses can be understood through the dynamics of underlying biochemical and genetic networks. Evolutionary design principles have been well studied in networks that display graded responses, with a continuous relationship between input signal and system output. Alternatively, biochemical networks can exhibit bistable responses so that over a range of signals the network possesses two stable steady states. In this review, we discuss several conceptual examples illustrating network designs that can result in a bistable response of the biochemical network. Next, we examine manifestations of these designs in bacterial master-regulatory genetic circuits. In particular, we discuss mechanisms and dynamic consequences of bistability in three circuits: two-component systems, sigma-factor networks, and a multistep phosphorelay. Analyzing these examples allows us to expand our knowledge of evolutionary design principles for networks with bistable responses. PMID:21385588

  9. Monitoring adaptive genetic responses to environmental change

    Science.gov (United States)

    Michael M. Hansen; Isabelle Olivieri; Donald M. Waller; Einar E. Nielsen; F. W. Allendorf; M. K. Schwartz; C. S. Baker; D. P. Gregovich; J. A. Jackson; K. C. Kendall; L. Laikre; K. McKelvey; M. C. Neel; N. Ryman; R. Short Bull; J. B. Stetz; D. A. Tallmon; C. D. Vojta; R. S. Waples

    2012-01-01

    Widespread environmental changes including climate change, selective harvesting and landscape alterations now greatly affect selection regimes for most organisms. How animals and plants can adapt to these altered environments via contemporary evolution is thus of strong interest. We discuss how to use genetic monitoring to study adaptive responses via repeated analysis...

  10. Net assimilation and photosynthate allocation of Populus clones grown under short-rotation intensive culture: Physiological and genetic responses regulating yield

    Energy Technology Data Exchange (ETDEWEB)

    Dickmann, D.I.; Pregitzer, K.S.; Nguyen, P.V. [Michigan State Univ., East Lansing, MI (United States)

    1996-08-01

    The overall objective of this project was to determine the differential responses of poplar clones from sections Tacamahaca and Aigeiros of the genus Populus to varying levels of applied water and nitrogen. Above- and below-ground phenology and morphology, photosynthate allocation, and physiological processes were examined. By manipulating the availability of soil resources, we have been able to separate inherent clonal differences from plastic responses, and to determine genotype-environment interactions. We also have been able to make some contrasts between trees grown from hardwood cuttings and coppice sprouts. Our overall hypothesis was that carbon allocation during growth is greatly influenced by interactions among moisture, nitrogen, and genotype, and that these interactions greatly influence yield in short-rotation plantations. As is true of any project, some of our original expectations were not realized, whereas other initially unforeseen results were obtained. The reduced funding from the Biofuels Feedstock Development Program (BFDP) during the last few years of the project slowed us down to some extent, so progress was not been as rapid as we might have hoped. The major problem associated with this funding shortfall was the inability to employ skilled and unskilled student labor. Nonetheless, we were able to accomplish most of our original goals. All of the principal investigators on this project feel that we have made progress in advancing the scientific underpinning of short-rotation woody biomass production.

  11. Generator scheduling under competitive environment using genetic ...

    African Journals Online (AJOL)

    In this paper, genetic algorithm (GA) is used to solve the GENCOs profit based unit commitment problem (PBUCP) in a dayahead competitive electricity markets considering power and reserve generations simultaneously, whereas enhanced lambda iteration (ELI) method is used to solve the economic dispatch (ED) ...

  12. Intraspecific Genetic dynamics under Climate Change

    DEFF Research Database (Denmark)

    Florez Rodriguez, Alexander

    Climate change has a deep influence on the maintenance and generation of global biodiversity. Past contractions, expansions and shifts in species’ ranges drove to changes in species genetic diversity. Noteworthy, the interaction among: climate change, range, population size and extinction is ofte...

  13. Genetic Influences on Response to Alcohol and Response to Pharmacotherapies for Alcoholism

    Science.gov (United States)

    Enoch, Mary-Anne

    2014-01-01

    Although very many individuals drink alcohol at safe levels, a significant proportion escalates their consumption with addiction as the end result. Alcoholism is a common, moderately heritable, psychiatric disorder that is accompanied by considerable morbidity and mortality. Variation in clinical presentation suggests inter-individual variation in mechanisms of vulnerability including genetic risk factors. The development of addiction is likely to involve numerous functional genetic variants of small effects. The first part of this review will focus on genetic factors underlying inter-individual variability in response to alcohol consumption, including variants in alcohol metabolizing genes that produce an aversive response (the flushing syndrome) and variants that predict the level of subjective and physiological response to alcohol. The second part of this review will report on genetic variants that identify subgroups of alcoholics who are more likely to respond to pharmacotherapy to reduce levels of drinking or maintain abstinence. Genetic analyses of the level of response to alcohol, particularly of the functional OPRM1 A118G polymorphism and 5′ and 3′ functional polymorphisms in SLC6A4, are beginning to provide insights into the etiology of alcoholism and also genotype-stratified subgroup responses to naltrexone and SSRIs / ondansetron respectively. Because of large inter-ethnic variation in allele frequencies, the relevance of these functional polymorphisms will vary between ethnic groups. However there are relatively few published studies in this field, particularly with large sample sizes in pharmacogenetic studies, therefore it is premature to draw any conclusions at this stage. PMID:24220019

  14. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    Science.gov (United States)

    Scalco, Renata S; Snoeck, Marc; Quinlivan, Ros; Treves, Susan; Laforét, Pascal; Jungbluth, Heinz; Voermans, Nicol C

    2016-01-01

    Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown. Repeated episodes of exertional rhabdomyolysis should raise the suspicion of such an underlying disorder, in particular in individuals in whom the severity of the rhabdomyolysis episodes exceeds the expected response to the exercise performed. The present review aims to provide a practical guideline for the acute management and postepisode counselling of patients with exertional rhabdomyolysis, with a particular emphasis on when to suspect an underlying genetic disorder. The pathophysiology and its clinical features are reviewed, emphasising four main stepwise approaches: (1) the clinical significance of an acute episode, (2) risks of renal impairment, (3) clinical indicators of an underlying genetic disorders and (4) when and how to recommence sport activity following an acute episode of rhabdomyolysis. Genetic backgrounds that appear to be associated with both enhanced athletic performance and increased rhabdomyolysis risk are briefly reviewed. PMID:27900193

  15. Personalized medicine: Genetic risk prediction of drug response.

    Science.gov (United States)

    Zhang, Ge; Nebert, Daniel W

    2017-07-01

    Pharmacogenomics (PGx), a substantial component of "personalized medicine", seeks to understand each individual's genetic composition to optimize drug therapy -- maximizing beneficial drug response, while minimizing adverse drug reactions (ADRs). Drug responses are highly variable because innumerable factors contribute to ultimate phenotypic outcomes. Recent genome-wide PGx studies have provided some insight into genetic basis of variability in drug response. These can be grouped into three categories. [a] Monogenic (Mendelian) traits include early examples mostly of inherited disorders, and some severe (idiosyncratic) ADRs typically influenced by single rare coding variants. [b] Predominantly oligogenic traits represent variation largely influenced by a small number of major pharmacokinetic or pharmacodynamic genes. [c] Complex PGx traits resemble most multifactorial quantitative traits -- influenced by numerous small-effect variants, together with epigenetic effects and environmental factors. Prediction of monogenic drug responses is relatively simple, involving detection of underlying mutations; due to rarity of these events and incomplete penetrance, however, prospective tests based on genotype will have high false-positive rates, plus pharmacoeconomics will require justification. Prediction of predominantly oligogenic traits is slowly improving. Although a substantial fraction of variation can be explained by limited numbers of large-effect genetic variants, uncertainty in successful predictions and overall cost-benefit ratios will make such tests elusive for everyday clinical use. Prediction of complex PGx traits is almost impossible in the foreseeable future. Genome-wide association studies of large cohorts will continue to discover relevant genetic variants; however, these small-effect variants, combined, explain only a small fraction of phenotypic variance -- thus having limited predictive power and clinical utility. Copyright © 2017 Elsevier Inc. All

  16. Habitat specialization predicts genetic response to fragmentation in tropical birds.

    Science.gov (United States)

    Khimoun, Aurélie; Eraud, Cyril; Ollivier, Anthony; Arnoux, Emilie; Rocheteau, Vincent; Bely, Marine; Lefol, Emilie; Delpuech, Martin; Carpentier, Marie-Laure; Leblond, Gilles; Levesque, Anthony; Charbonnel, Anaïs; Faivre, Bruno; Garnier, Stéphane

    2016-08-01

    Habitat fragmentation is one of the most severe threats to biodiversity as it may lead to changes in population genetic structure, with ultimate modifications of species evolutionary potential and local extinctions. Nonetheless, fragmentation does not equally affect all species and identifying which ecological traits are related to species sensitivity to habitat fragmentation could help prioritization of conservation efforts. Despite the theoretical link between species ecology and extinction proneness, comparative studies explicitly testing the hypothesis that particular ecological traits underlies species-specific population structure are rare. Here, we used a comparative approach on eight bird species, co-occurring across the same fragmented landscape. For each species, we quantified relative levels of forest specialization and genetic differentiation among populations. To test the link between forest specialization and susceptibility to forest fragmentation, we assessed species responses to fragmentation by comparing levels of genetic differentiation between continuous and fragmented forest landscapes. Our results revealed a significant and substantial population structure at a very small spatial scale for mobile organisms such as birds. More importantly, we found that specialist species are more affected by forest fragmentation than generalist ones. Finally, our results suggest that even a simple habitat specialization index can be a satisfying predictor of genetic and demographic consequences of habitat fragmentation, providing a reliable practical and quantitative tool for conservation biology. © 2016 John Wiley & Sons Ltd.

  17. Search for Genetic Variants Underlying Musical Aptitude and Related Traits

    OpenAIRE

    Ukkola-Vuoti, Liisa

    2013-01-01

    Music perception and practice represents complex cognitive functions of the brain. There is an abundance of data about the neurophysiological effects of music on the human brain, but heritability and especially molecular studies have been lacking. The development of genome technologies and bioinformatics has enabled the identification of genetic variants underlying complex human traits. These methods can be applied to normal human traits like music perception and performance. Prior to th...

  18. Identifying the genetic components underlying the pathophysiology of movement disorders

    Directory of Open Access Journals (Sweden)

    Ezquerra M

    2011-06-01

    Full Text Available Mario Ezquerra, Yaroslau Compta, Maria J MartiParkinson’s Disease and Movement Disorders Unit, Service of Neurology, Institute of Clinical Neurosciences, Hospital Clinic of Barcelona, IDIBAPS, CIBERNED, SpainAbstract: Movement disorders are a heterogeneous group of neurological conditions, few of which have been classically described as bona fide hereditary illnesses (Huntington’s chorea, for instance. Most are considered to be either sporadic or to feature varying degrees of familial aggregation (parkinsonism and dystonia. In the late twentieth century, Mendelian monogenic mutations were found for movement disorders with a clear and consistent family history. Although important, these findings apply only to very rare forms of movement disorders. Already in the twenty-first century, and taking advantage of the modern developments in genetics and molecular biology, growing attention is being paid to the complex genetics of movement disorders. The search for risk genetic variants (polymorphisms in large cohorts and the identification of different risk variants across different populations and ethnic groups are under way, with the most relevant findings to date corresponding to recent genome wide association studies in Parkinson’s disease. These new approaches focusing on risk variants may enable the design of screening tests for early or even preclinical disease, and the identification of likely therapeutic targets.Keywords: genetics, movement disorders, Parkinson’s disease, parkinsonism, dystonia

  19. Effect of genetic and coexisting polymorphisms on platelet response ...

    Indian Academy of Sciences (India)

    Effect of genetic and coexisting polymorphisms on platelet response to clopidogrel in Chinese Han patients with acute coronary syndrome. Xu Liu, Yu Luo, Yan Lai, Yian Yao, Jimin Li, Yunkai Wang, S. Lilly Zheng, Jianfeng Xu and Xuebo Liu. J. Genet. 95, 231–237. Table 1. Association for coexisting SNPs and PRU/HPR.

  20. Response of Genetically Improved Heterobranchus Longifilis ...

    African Journals Online (AJOL)

    Three isoproteic 35% crude protein diets were formulated with same basal ingredients and ranging levels of extruded soybean, beniseed and yellow maize meals and fed at 5% body weight to groups of genetically improved Heterobranchus longifilis juveniles of mean weight 79.57± 0.365g in nine out door concrete tanks ...

  1. Swash Zone Response under Various Wave Regimes

    DEFF Research Database (Denmark)

    Vicinanza, Diego; Baldock, Tom; Contestabile, Pasquale

    2011-01-01

    The modelling of swash zone (SZ) sediment transport and the resulting morphodynamics have been areas of active research over the last decade. However, many details are still to be understood, whose knowledge will be greatly advanced by the collection of high-quality data under the controlled large......-scale laboratory conditions. The research describes tests carried out in the large wave flume of the Maritime Engineering Laboratory at Catalonia University of Technology, to investigate the SZ under the storm conditions. Its main aim was to compare beach-profile responses for monochromatic waves, monochromatic...... waves plus free long waves, bi-chromatic waves and random waves. Both erosive and accretive conditions were considered. Results discussed here were derived from the analysis of only a part of the whole data set....

  2. Predicting the asymmetric response of a genetic switch to noise.

    Science.gov (United States)

    Ochab-Marcinek, Anna

    2008-09-07

    We present a simple analytical tool which gives an approximate insight into the stationary behavior of nonlinear systems undergoing the influence of a weak and rapid noise from one dominating source, e.g. the kinetic equations describing a genetic switch with the concentration of one substrate fluctuating around a constant mean. The proposed method allows for predicting the asymmetric response of the genetic switch to noise, arising from the noise-induced shift of stationary states. The method has been tested on an example model of the lac operon regulatory network: a reduced Yildirim-Mackey model with fluctuating extracellular lactose concentration. We calculate analytically the shift of the system's stationary states in the presence of noise. The results of the analytical calculation are in excellent agreement with the results of numerical simulation of the noisy system. The simulation results suggest that the structure of the kinetics of the underlying biochemical reactions protects the bistability of the lactose utilization mechanism from environmental fluctuations. We show that, in the consequence of the noise-induced shift of stationary states, the presence of fluctuations stabilizes the behavior of the system in a selective way: Although the extrinsic noise facilitates, to some extent, switching off the lactose metabolism, the same noise prevents it from switching on.

  3. Ocean acidification genetics - Genetics and genomics of response to ocean acidification

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — We are applying a variety of genetic tools to assess the response of our ocean resources to ocean acidification, including gene expression techniques, identification...

  4. Genetics Home Reference: dopa-responsive dystonia

    Science.gov (United States)

    ... splicing defect accounts for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10. ... SPR) in a patient with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. Epub 2004 ...

  5. Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

    Science.gov (United States)

    Brown, Shelby; Puumala, Susan; Leonhard, Jennifer; Bell, Megan; Flanagan, Jason; Dean, Lori Williamson; Stein, Quinn

    2017-12-04

    While traditional components of genetic counseling sessions are well recognized, less is known about insurance and financial discussions. This study sought to examine "genesurance counseling" which we defined as: that portion of a genetic counseling session, whether intentional or non-intentional, that is devoted to the topic of costs and insurance/third party coverage (particularly for genetic testing). Our objective was to assess genetic counselors' practices and perspective related to genesurance counseling. A survey link was sent by e-mail to members of the National Society of Genetic Counselors (approximately 3100 NSGC members). A total of 571 genetic counselors participated in the survey of which 550 identified as clinical genetic counselors. Survey data were used to investigate differences between specialties, impact on patient rapport, changes in practice dynamics, and devotion of clinic time. Overwhelmingly, 99% of participants acknowledged conducting genesurance counseling, 87% believed it to be part of their job description, and 85% viewed it as an important aspect of genetic counseling. On average, respondents estimated they devoted 10% of their session, or 6 min, to genesurance counseling. Of the surveyed participants, 95% reported genesurance counseling as having some form of influence in a patient's decision regarding genetic testing, and 74% stated that genesurance counseling concerns change the practice and dynamic of their clinic. "Genesurance counseling" is not a topic which has been studied to date. Our study highlights the changes in genetic counselors' roles and responsibilities regarding insurance and financial counseling.

  6. Genetic indicators of radiotherapy normal tissue response

    International Nuclear Information System (INIS)

    Birrell, G.W.; Ramsay, J.R.; Lavin, M.F.

    2003-01-01

    Full text: The aims of this study are to identify a genetic signature for adverse normal tissue damage from clinical radiotherapy (RT) in breast cancer patients, and to characterize the differentially-regulated genes involved. We have chosen to use skin expression profiling for four main reasons; (1) skin is the tissue that expresses the damage and so is directly relevant to the investigation, (2) skin biopsies can be snap frozen to preserve and maintain the in vivo expression profile of the patient, (3) skin punch biopsies are minimally invasive which equates to a high participation rate from RT patients (4) radiosensitivity testing and similar assays of cultured cells have only a low correlation with clinical adverse reaction. We expect our molecular profiling approach will give insight into the inherent genetic status of the patient that has not been demonstrated in cellular assays. We have begun collecting and processing skin punch biopsies from unirradiated sites from informed, consenting patients with adverse (severe acute or late) reaction to the skin or subcutaneous tissue following a standard course of RT, and normal controls. We have profiled biopsies from 7 adverse normal tissue reaction patients and 4 controls. Analyses of this data has identified 202 differentially expressed genes (p<0.01) and a class prediction algorithm correctly identified as adverse reaction or normal reaction 6/7 (86%) of our test samples that it could predict. We plan to focus on the function of some of these genes to determine their biological and clinical relevance. This will include detailed analysis of several of the gene products in an effort to address why these genes are associated with clinical reaction and what signaling pathways are involved. We plan to expand our sample number to 50 severe normal tissue late reaction (RTOG Grade 3 or 4), 50 severe acute normal tissue reaction and 50 no late or acute reaction to RT (RTOG 0) patients. An expected outcome is to fabricate

  7. Bone response to fluoride exposure is influenced by genetics.

    Directory of Open Access Journals (Sweden)

    Cláudia A N Kobayashi

    Full Text Available Genetic factors influence the effects of fluoride (F on amelogenesis and bone homeostasis but the underlying molecular mechanisms remain undefined. A label-free proteomics approach was employed to identify and evaluate changes in bone protein expression in two mouse strains having different susceptibilities to develop dental fluorosis and to alter bone quality. In vivo bone formation and histomorphometry after F intake were also evaluated and related to the proteome. Resistant 129P3/J and susceptible A/J mice were assigned to three groups given low-F food and water containing 0, 10 or 50 ppmF for 8 weeks. Plasma was evaluated for alkaline phosphatase activity. Femurs, tibiae and lumbar vertebrae were evaluated using micro-CT analysis and mineral apposition rate (MAR was measured in cortical bone. For quantitative proteomic analysis, bone proteins were extracted and analyzed using liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS, followed by label-free semi-quantitative differential expression analysis. Alterations in several bone proteins were found among the F treatment groups within each mouse strain and between the strains for each F treatment group (ratio ≥1.5 or ≤0.5; p<0.05. Although F treatment had no significant effects on BMD or bone histomorphometry in either strain, MAR was higher in the 50 ppmF 129P3/J mice than in the 50 ppmF A/J mice treated with 50 ppmF showing that F increased bone formation in a strain-specific manner. Also, F exposure was associated with dose-specific and strain-specific alterations in expression of proteins involved in osteogenesis and osteoclastogenesis. In conclusion, our findings confirm a genetic influence in bone response to F exposure and point to several proteins that may act as targets for the differential F responses in this tissue.

  8. Worms under stress: C. elegans stress response and its relevance to complex human disease and aging

    NARCIS (Netherlands)

    Rodriguez Sanchez, M.; Snoek, L.B.; Bono, de M.; Kammenga, J.E.

    2013-01-01

    Many organisms have stress response pathways, components of which share homology with players in complex human disease pathways. Research on stress response in the nematode worm Caenorhabditis elegans has provided detailed insights into the genetic and molecular mechanisms underlying complex human

  9. Genetic Testing Accounts of Autonomy, Responsibility and Blame

    DEFF Research Database (Denmark)

    Arribas-Ayllon, M.; Sarangi, Srikant; Clarke, Angus

    as well as genetic professionals. This book explores the ways in which genetic testing generates not only probabilities of potential futures, but also enjoys new forms of social, individual and professional responsibility. Concerns about confidentiality and informed consent involving children......, the assessment of competence and maturity, the ability to engage in shared decision-making through acts of disclosure and choice, are just some of the issues that are examined in detail....

  10. Evaluation of Optimum Genetic Contribution Theory to Control Inbreeding While Maximizing Genetic Response

    Directory of Open Access Journals (Sweden)

    S.-H. Oh

    2012-03-01

    Full Text Available Inbreeding is the mating of relatives that produce progeny having more homozygous alleles than non-inbred animals. Inbreeding increases numbers of recessive alleles, which is often associated with decreased performance known as inbreeding depression. The magnitude of inbreeding depression depends on the level of inbreeding in the animal. Level of inbreeding is expressed by the inbreeding coefficient. One breeding goal in livestock is uniform productivity while maintaining acceptable inbreeding levels, especially keeping inbreeding less than 20%. However, in closed herds without the introduction of new genetic sources high levels of inbreeding over time are unavoidable. One method that increases selection response and minimizes inbreeding is selection of individuals by weighting estimated breeding values with average relationships among individuals. Optimum genetic contribution theory (OGC uses relationships among individuals as weighting factors. The algorithm is as follows: i Identify the individual having the best EBV; ii Calculate average relationships ( r j ¯ between selected and candidates; iii Select the individual having the best EBV adjusted for average relationships using the weighting factor k, E B V * = E B V j ( 1 - k r j ¯ . iv Repeat process until the number of individuals selected equals number required. The objective of this study was to compare simulated results based on OGC selection under different conditions over 30 generations. Individuals (n = 110 were generated for the base population with pseudo random numbers of N~ (0, 3, ten were assumed male, and the remainder female. Each male was mated to ten females, and every female was assumed to have 5 progeny resulting in 500 individuals in the following generation. Results showed the OGC algorithm effectively controlled inbreeding and maintained consistent increases in selection response. Difference in breeding values between selection with OGC algorithm and by EBV only was 8

  11. [Analysis of genetic control of maize response in anther culture within a diallelic set].

    Science.gov (United States)

    Satarova, T N

    2002-01-01

    The androgenic ability in anther culture in vitro was examined within a diallel set of five maize lines. The complex analysis of genetic variation components, Hayman's diagram, and genetic parameters showed that the anther response is under the control of an additive-dominant genetic system. The examined lines possessed the different correlation of dominant and recessive alleles controlling androgenesis. And 44 was the line with the biggest number of recessive genes, which determined the increase in the trait. The level of dominance varied in different loci, though in the whole the degree of dominance approached to the complete one.

  12. Preimplantation genetic diagnosis and rational choice under risk or uncertainty.

    Science.gov (United States)

    Zuradzki, Tomasz

    2014-11-01

    In this paper I present an argument in favour of a parental duty to use preimplantation genetic diagnosis (PGD). I argue that if embryos created in vitro were able to decide for themselves in a rational manner, they would sometimes choose PGD as a method of selection. Couples, therefore, should respect their hypothetical choices on a principle similar to that of patient autonomy. My thesis shows that no matter which moral doctrine couples subscribe to, they ought to conduct the PGD procedure in the situations when it is impossible to implant all of the created embryos and if there is a significant risk for giving birth to a child with a serious condition. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  13. Mechanisms Underlying the Antidepressant Response and Treatment Resistance

    Directory of Open Access Journals (Sweden)

    Marjorie Rose Levinstein

    2014-06-01

    Full Text Available Depression is a complex and heterogeneous disorder affecting millions of Americans. There are several different medications and other treatments that are available and effective for many patients with depression. However, a substantial percentage of patients fail to achieve remission with these currently available interventions, and relapse rates are high. Therefore, it is necessary to determine both the mechanisms underlying the antidepressant response and the differences between responders and non-responders to treatment. Delineation of these mechanisms largely relies on experiments that utilize animal models. Therefore, this review provides an overview of the various mouse models that are currently used to assess the antidepressant response, such as chronic mild stress, social defeat, and chronic corticosterone. We discuss how these mouse models can be used to advance our understanding of the differences between responders and non-responders to antidepressant treatment. We also provide an overview of experimental treatment modalities that are used for treatment-resistant depression, such as deep brain stimulation and ketamine administration. We will then review the various genetic polymorphisms and transgenic mice that display resistance to antidepressant treatment. Finally, we synthesize the published data to describe a potential neural circuit underlying the antidepressant response and treatment resistance.

  14. Genetic responses against nitric oxide toxicity

    Directory of Open Access Journals (Sweden)

    B. Demple

    1999-11-01

    Full Text Available The threat of free radical damage is opposed by coordinated responses that modulate expression of sets of gene products. In mammalian cells, 12 proteins are induced by exposure to nitric oxide (NO levels that are sub-toxic but exceed the level needed to activate guanylate cyclase. Heme oxygenase 1 (HO-1 synthesis increases substantially, due to a 30- to 70-fold increase in the level of HO-1 mRNA. HO-1 induction is cGMP-independent and occurs mainly through increased mRNA stability, which therefore indicates a new NO-signaling pathway. HO-1 induction contributes to dramatically increased NO resistance and, together with the other inducible functions, constitutes an adaptive resistance pathway that also defends against oxidants such as H2O2. In E. coli, an oxidative stress response, the soxRS regulon, is activated by direct exposure of E. coli to NO, or by NO generated in murine macrophages after phagocytosis of the bacteria. This response is governed by the SoxR protein, a homodimeric transcription factor (17-kDa subunits containing [2Fe-2S] clusters essential for its activity. SoxR responds to superoxide stress through one-electron oxidation of the iron-sulfur centers, but such oxidation is not observed in reactions of NO with SoxR. Instead, NO nitrosylates the iron-sulfur centers of SoxR both in vitro and in intact cells, which yields a form of the protein with maximal transcriptional activity. Although nitrosylated SoxR is very stable in purified form, the spectroscopic signals for the nitrosylated iron-sulfur centers disappear rapidly in vivo, indicating an active process to reverse or eliminate them.

  15. Global genetic variations predict brain response to faces.

    Directory of Open Access Journals (Sweden)

    Erin W Dickie

    2014-08-01

    Full Text Available Face expressions are a rich source of social signals. Here we estimated the proportion of phenotypic variance in the brain response to facial expressions explained by common genetic variance captured by ∼ 500,000 single nucleotide polymorphisms. Using genomic-relationship-matrix restricted maximum likelihood (GREML, we related this global genetic variance to that in the brain response to facial expressions, as assessed with functional magnetic resonance imaging (fMRI in a community-based sample of adolescents (n = 1,620. Brain response to facial expressions was measured in 25 regions constituting a face network, as defined previously. In 9 out of these 25 regions, common genetic variance explained a significant proportion of phenotypic variance (40-50% in their response to ambiguous facial expressions; this was not the case for angry facial expressions. Across the network, the strength of the genotype-phenotype relationship varied as a function of the inter-individual variability in the number of functional connections possessed by a given region (R(2 = 0.38, p<0.001. Furthermore, this variability showed an inverted U relationship with both the number of observed connections (R2 = 0.48, p<0.001 and the magnitude of brain response (R(2 = 0.32, p<0.001. Thus, a significant proportion of the brain response to facial expressions is predicted by common genetic variance in a subset of regions constituting the face network. These regions show the highest inter-individual variability in the number of connections with other network nodes, suggesting that the genetic model captures variations across the adolescent brains in co-opting these regions into the face network.

  16. 42 CFR 408.86 - Responsibilities under group billing arrangement.

    Science.gov (United States)

    2010-10-01

    ... Payment § 408.86 Responsibilities under group billing arrangement. (a) Enrollee responsibilities. (1) The enrollee is still responsible for premium payments; the group payer simply acts as his agent. If the agent... 42 Public Health 2 2010-10-01 2010-10-01 false Responsibilities under group billing arrangement...

  17. The joint effects of kin, multilevel selection and indirect genetic effects on response to genetic selection.

    Science.gov (United States)

    Bijma, P; Wade, M J

    2008-09-01

    Kin and levels-of-selection models are common approaches for modelling social evolution. Indirect genetic effect (IGE) models represent a different approach, specifying social effects on trait values rather than fitness. We investigate the joint effect of relatedness, multilevel selection and IGEs on response to selection. We present a measure for the degree of multilevel selection, which is the natural partner of relatedness in expressions for response. Response depends on both relatedness and the degree of multilevel selection, rather than only one or the other factor. Moreover, response is symmetric in relatedness and the degree of multilevel selection, indicating that both factors have exactly the same effect. Without IGEs, the key parameter is the product of relatedness and the degree of multilevel selection. With IGEs, however, multilevel selection without relatedness can explain evolution of social traits. Thus, next to relatedness and multilevel selection, IGEs are a key element in the genetical theory of social evolution.

  18. A genetic dissection of the photophobic response of Paramecium tetraurelia.

    Science.gov (United States)

    Hinrichsen, Robert; Peters, Christian

    2013-05-01

    Paramecium tetraurelia displayed two behavioral responses upon the initiation of a light stimulus at 7 x 10(4) lux. The cells exhibited a photophobic response in the form of behavioral avoiding reactions, followed by an increase in forward swimming velocity that was significantly higher than prior to the light stimulus activation. It was determined that an intensity of approximately 6.5 x 10(3) lux was required to initiate a moderate avoidance behavioral response. Following the avoiding response, a gradual increase in speed occurred as the intensity increased, indicating that increased swimming speeds are dependent on the light intensity. Two mutants, pawnA and Dancer, were utilized since they affect known Ca(2+)-currents of the cell. The use of pawnA cells, which lack voltage-dependent Ca(2+) channel activity, showed that the two responses to light could be genetically separated, in that the cells showed no avoiding reactions, but did increase their swimming speed. The Dancer cells, which display exaggerated Ca(2+) channel activity, exhibited similar initial avoiding responses as the wild type cells, however did not increase their swimming speed as the intensity of the light was increased. This phenotype as replicated in wildtype cells that had been placed in 25 μM 8-Br-cGMP. These data demonstrate that the photophobic light response of Paramecium tetraurelia can be genetically dissected as a means of elucidating the molecular mechanisms of the light response. Copyright © 2013 Elsevier GmbH. All rights reserved.

  19. Genetic and epigenetic control of plant heat responses

    Directory of Open Access Journals (Sweden)

    Junzhong eLiu

    2015-04-01

    Full Text Available Plants have evolved sophisticated genetic and epigenetic regulatory systems to respond quickly to unfavorable environmental conditions such as heat, cold, drought, and pathogen infections. In particular, heat greatly affects plant growth and development, immunity and circadian rhythm, and poses a serious threat to the global food supply. According to temperatures exposing, heat can be usually classified as warm ambient temperature (about 22-27℃, high temperature (27-30℃ and extremely high temperature (37-42℃, also known as heat stress for the model plant Arabidopsis thaliana. The genetic mechanisms of plant responses to heat have been well studied, mainly focusing on elevated ambient temperature-mediated morphological acclimation and acceleration of flowering, modulation of plant immunity and circadian clock by high temperatures, and thermotolerance to heat stress. Recently, great progress has been achieved on epigenetic regulation of heat responses, including DNA methylation, histone modifications, histone variants, ATP-dependent chromatin remodeling, histone chaperones, small RNAs, long non-coding RNAs and other undefined epigenetic mechanisms. These epigenetic modifications regulate the expression of heat-responsive genes and function to prevent heat-related damage. This review focuses on recent progresses regarding the genetic and epigenetic control of heat responses in plants, and pays more attention to the role of the major epigenetic mechanisms in plant heat responses. Further research perspectives are also discussed.

  20. The influence of genetic constitution on migraine drug responses

    DEFF Research Database (Denmark)

    Christensen, Anne Francke; Esserlind, Ann-Louise; Werge, Thomas

    2016-01-01

    and genotyping were performed on 1806 unrelated migraine cases recruited from the Danish Headache Center. Association analyses were carried out using logistic regression, assuming an additive model for the genetic effect. The effect on drug responses was tested for a combined genetic score and for each of the 12...... SNPs. Significant findings were subsequently tested in an independent replication sample of 392 unrelated Danish migraine cases. RESULTS: A single risk variant, rs2651899 in PRDM16, was significantly associated with efficacy of triptans with an odds ratio (OR) of treatment success of 1.3, and a higher......." Personalized treatment is therefore much needed. The objective of this study was to test the effect of 12 single nucleotide polymorphisms (SNPs) significantly associated with migraine on migraine drug responses. METHODS: Semi-structured migraine interviews including questions on drug responses, blood samples...

  1. Banking efficiency under corporate social responsibilities

    DEFF Research Database (Denmark)

    Ohene-Asare, Kwaku; Asmild, Mette

    2012-01-01

    This paper expands the banking efficiency literature by developing a banking intermediation model that captures both profit-maximizing and Corporate Social Responsibilities (CSR) of banks. Using a data set of 21 banks for each year 2006-2008, we evaluate the relative efficiency of Ghanaian banks...... that are socially responsible may have economic advantages....

  2. Genetic predictors of response to antidepressants in the GENDEP project

    DEFF Research Database (Denmark)

    Uher, Rudolf; Huezo-Diaz, Patricia; Perroud, Nader

    2009-01-01

    ) for 12 weeks in an open-label part-randomized multicenter study. The effect of genetic variants on change in depressive symptoms was evaluated using mixed linear models. Several variants in a serotonin receptor gene (HTR2A) predicted response to escitalopram with one marker (rs9316233) explaining 1...... testing. A false discovery rate of 0.106 for the three strongest associations indicated that the multiple findings are unlikely to be false positives. The pattern of associations indicated a degree of specificity with variants in genes encoding proteins in serotonin signaling influencing response...... proportion of variance in response to antidepressants, indicating a need for a multivariate approach to prediction....

  3. Sexually antagonistic selection on genetic variation underlying both male and female same-sex sexual behavior.

    Science.gov (United States)

    Berger, David; You, Tao; Minano, Maravillas R; Grieshop, Karl; Lind, Martin I; Arnqvist, Göran; Maklakov, Alexei A

    2016-05-13

    Intralocus sexual conflict, arising from selection for different alleles at the same locus in males and females, imposes a constraint on sex-specific adaptation. Intralocus sexual conflict can be alleviated by the evolution of sex-limited genetic architectures and phenotypic expression, but pleiotropic constraints may hinder this process. Here, we explored putative intralocus sexual conflict and genetic (co)variance in a poorly understood behavior with near male-limited expression. Same-sex sexual behaviors (SSBs) generally do not conform to classic evolutionary models of adaptation but are common in male animals and have been hypothesized to result from perception errors and selection for high male mating rates. However, perspectives incorporating sex-specific selection on genes shared by males and females to explain the expression and evolution of SSBs have largely been neglected. We performed two parallel sex-limited artificial selection experiments on SSB in male and female seed beetles, followed by sex-specific assays of locomotor activity and male sex recognition (two traits hypothesized to be functionally related to SSB) and adult reproductive success (allowing us to assess fitness consequences of genetic variance in SSB and its correlated components). Our experiments reveal both shared and sex-limited genetic variance for SSB. Strikingly, genetically correlated responses in locomotor activity and male sex-recognition were associated with sexually antagonistic fitness effects, but these effects differed qualitatively between male and female selection lines, implicating intralocus sexual conflict at both male- and female-specific genetic components underlying SSB. Our study provides experimental support for the hypothesis that widespread pleiotropy generates pervasive intralocus sexual conflict governing the expression of SSBs, suggesting that SSB in one sex can occur due to the expression of genes that carry benefits in the other sex.

  4. A Realistic Model Under Which the Genetic Code is Optimal

    NARCIS (Netherlands)

    Buhrman, Harry; van der Gulik, Peter T. S.; Klau, Gunnar W.; Schaffner, Christian; Speijer, Dave; Stougie, Leen

    2013-01-01

    The genetic code has a high level of error robustness. Using values of hydrophobicity scales as a proxy for amino acid character, and the mean square measure as a function quantifying error robustness, a value can be obtained for a genetic code which reflects the error robustness of that code. By

  5. Coeliac disease : investigation of the genetic factors underlying coeliac disease

    NARCIS (Netherlands)

    Belzen, M.J. (Martine Juliana) van

    2003-01-01

    Coeliac disease is a common food intolerance with a complex genetic aetiology. It is caused by ingestion of gluten peptides from wheat and related proteins from barley and rye in genetically susceptible individuals. The disease affects the small intestine and leads to abnormalities ranging from the

  6. Genetic Circuit Performance under Conditions Relevant for Industrial Bioreactors

    NARCIS (Netherlands)

    Moser, Felix; Broers, Nicolette J.; Hartmans, Sybe; Tamsir, Alvin; Kerkman, Richard; Roubos, Johannes A.; Bovenberg, Roel; Voigt, Christopher A.

    2012-01-01

    Synthetic genetic programs promise to enable novel applications in industrial processes. For such applications, the genetic circuits that compose programs will require fidelity in varying and complex environments. In this work, we report the performance of two synthetic circuits in Escherichia coli

  7. Worms under stress: unravelling genetic complex traits through perturbation

    NARCIS (Netherlands)

    Rodriguez Sanchez, M.

    2014-01-01

    The genetic architecture of an organism could be considered ‘the most amazing piece of engineering’ existing in nature. Looking from a certain distance, the genetic complexity of an organism could be described as an immense jigsaw puzzle. As in a real jigsaw, the connection between two pieces

  8. A Realistic Model under which the Genetic Code is Optimal

    NARCIS (Netherlands)

    Buhrman, H.; van der Gulik, P.T.S.; Klau, G.W.; Schaffner, C.; Speijer, D.; Stougie, L.

    2013-01-01

    The genetic code has a high level of error robustness. Using values of hydrophobicity scales as a proxy for amino acid character, and the mean square measure as a function quantifying error robustness, a value can be obtained for a genetic code which reflects the error robustness of that code. By

  9. Plant genetic and molecular responses to water deficit

    Directory of Open Access Journals (Sweden)

    Silvio Salvi

    2011-02-01

    Full Text Available Plant productivity is severely affected by unfavourable environmental conditions (biotic and abiotic stresses. Among others, water deficit is the plant stress condition which mostly limits the quality and the quantity of plant products. Tolerance to water deficit is a polygenic trait strictly dependent on the coordinated expression of a large set of genes coding for proteins directly involved in stress-induced protection/repair mechanisms (dehydrins, chaperonins, enzymes for the synthesis of osmoprotectants and detoxifying compounds, and others as well as genes involved in transducing the stress signal and regulating gene expression (transcription factors, kinases, phosphatases. Recently, research activities in the field evolved from the study of single genes directly involved in cellular stress tolerance (functional genes to the identification and characterization of key regulatory genes involved in stress perception and transduction and able to rapidly and efficiently activate the complex gene network involved in the response to stress. The complexity of the events occurring in response to stress have been recently approached by genomics tools; in fact the analysis of transcriptome, proteome and metabolome of a plant tissue/cell in response to stress already allowed to have a global view of the cellular and molecular events occurring in response to water deficit, by the identification of genes activated and co-regulated by the stress conditions and the characterization of new signalling pathways. Moreover the recent application of forward and reverse genetic approaches, trough mutant collection development, screening and characterization, is giving a tremendous impulse to the identification of gene functions with key role in stress tolerance. The integration of data obtained by high-throughput genomic approaches, by means of powerful informatic tools, is allowing nowadays to rapidly identify of major genes/QTLs involved in stress tolerance

  10. Comparative proteomic analysis of genetically modified maize grown under different agroecosystems conditions in Brazil

    Science.gov (United States)

    2013-01-01

    Background Profiling technologies allow the simultaneous measurement and comparison of thousands of cell components without prior knowledge of their identity. In the present study, we used two-dimensional gel electrophoresis combined with mass spectrometry to evaluate protein expression of Brazilian genetically modified maize hybrid grown under different agroecosystems conditions. To this effect, leaf samples were subjected to comparative analysis using the near-isogenic non-GM hybrid as the comparator. Results In the first stage of the analysis, the main sources of variation in the dataset were identified by using Principal Components Analysis which correlated most of the variation to the different agroecosystems conditions. Comparative analysis within each field revealed a total of thirty two differentially expressed proteins between GM and non-GM samples that were identified and their molecular functions were mainly assigned to carbohydrate and energy metabolism, genetic information processing and stress response. Conclusions To the best of our knowledge this study represents the first evidence of protein identities with differentially expressed isoforms in Brazilian MON810 genetic background hybrid grown under field conditions. As global databases on outputs from “omics” analysis become available, these could provide a highly desirable benchmark for safety assessments. PMID:24304660

  11. Antenatal screening and the gendering of genetic responsibility

    Directory of Open Access Journals (Sweden)

    Reed Kate

    2007-09-01

    Full Text Available Abstract Background The objective of this study is to explore men's and women's perceptions of antenatal blood screening. The study will assess the impact of these perceptions on decision-making regarding diagnostic testing and selective abortion, and on parental feelings of genetic responsibility. By exploring gender and antenatal screening in this way, the research aims to contribute to our understanding of lay perceptions of genetic screening and increase our knowledge of the decision-making process in screening. Research design This qualitative study will be based on semi-structured interviews with twenty pregnant women and twenty male partners in the post-industrial city of Sheffield, UK. All interviews will be taped, transcribed and analysed thematically using NVIVO, a qualitative software package. Discussion The findings of this study have relevance to existing debates on the social and ethical implications of reproductive genetics. A better understanding of male and female perceptions of the screening process could improve guidance and practice in antenatal screening and genetic counselling. It will also inform and contribute to the development of theory on gender and genetic screening.

  12. Corporate Social Responsibility Under Authoritarian Capitalism

    DEFF Research Database (Denmark)

    Hofman, Peter S.; Moon, Jeremy; Wu, Bin

    2017-01-01

    This article introduces the concept of corporate social responsibility (CSR) in the seemingly oxymoronic context of Chinese “authoritarian capitalism.” Following an introduction to the emergence of authoritarian capitalism, the article considers the emergence of CSR in China using Matten and Moon’s...

  13. Banking efficiency under corporate social responsibilities

    DEFF Research Database (Denmark)

    Ohene-Asare, Kwaku; Asmild, Mette

    2012-01-01

    This paper expands the banking efficiency literature by developing a banking intermediation model that captures both profit-maximizing and Corporate Social Responsibilities (CSR) of banks. Using a data set of 21 banks for each year 2006-2008, we evaluate the relative efficiency of Ghanaian banks...

  14. Neurochemical mechanisms underlying responses to psychostimulants

    Energy Technology Data Exchange (ETDEWEB)

    Volkow, N.D.; Fowler, J.S.; Hitzemann, R.; Wang, G.J. [Brookhaven National Lab., Upton, NY (United States)]|[State Univ. of New York, Stony Brook, NY (United States)

    1994-11-01

    This study employed positron emission tomography (PET) to investigate biochemical and metabolic characteristics of the brain of individuals which could put them at risk for drug addiction. It takes advantage of the normal variability between individuals in response to psychoactive drugs to investigate relation between mental state, brain neurochemistry and metabolism and the behavioral response to drugs. We discuss its use to assess if there is an association between mental state and dompaminergic reactivity in response to the psychostimulant drug methylphenidate (MP). Changes in synaptic dopamine induced by MP were evaluated with PET and [11C]raclopride, a D{sub 2} receptor radioligand that is sensitive to endogenous dopamine. Methylpphenidate significantly decreased striatal [11C]raclopride binding. The study showed a correlation between the magnitude of the dopamine-induced changes by methylphenidate, and the mental state of the subjects. Subjects reporting high levels of anxiety and restlessness at baseline had larger changes in MP-induced dopamine changes than those that did not. Further investigations on the relation between an individual`s response to a drug and his/her mental state and personality as well as his neurochemical brain composition may enable to understand better differences in drug addiction vulnerability.

  15. Shared Responsibility under Article 80 CISG

    DEFF Research Database (Denmark)

    Neumann, Thomas

    2009-01-01

    Article 80 exempts from liability in the situation where the promisor's failure to perform has been caused by the promisee. The Article has been insufficiently dealt with in the literature and has been overlooked in case law. The paper demonstrates that article 80 has an independent scope compared...... of shared responsibility in which both the promisor and the promisee seem to have caused the promisor's failure to perform. Article 80 applies to three different case types. Firstly, cases of sole causation by the promisee. Secondly, cases of joint causation by both parties where the consequences of each...... contribution can be delimited. Thirdly, cases of joint causation where the consequences of each party's contribution cannot be delimited (shared responsibility). The third case type is investigated further and it is established that an apportionment based on a comparative evaluation of the parties is called...

  16. The joint regulation of genetic gain and inbreeding under mate selection.

    Science.gov (United States)

    Klieve, H M; Kinghorn, B P; Barwick, S A

    1994-01-12

    Stochastic simulation was used to evaluate a range of selection strategies with respect to both additive genetic response and inbreeding. Strategies involving selection on BLUP ebvs or individual phenotype, followed by random mating, were compared with mate selection strategies which used portfolio analysis to give joint consideration to genetic merit and inbreeding. An adapted Mean Of Total Absolute Deviations (MOTAD) method was used in a mate selection model to define optimal matings with regard to aggregate genetic merit and inbreeding for a base population h(2) of 0.2. Compared with random mating following selection on BLUP ebvs, inbreeding levels after 10 years of selection were able to be reduced under BLUP plus mate selection from ∼.23 to as little as .11. Additive genetic gain was either little compromised or increased. The results suggest that information linking expected levels of genetic merit and inbreeding can be used to find the preferred selection strategy. ZUSAMMENFASSUNG: Gemeinsame Kontrolle von Zuchtfortschritt und Inzucht bei Partnerselektion Es wurde stochastische Simulation zur Auswertung einer Reihe von Selektionsstrategien hinsichtlich Zuchtwertzuwachs und Inzucht verwendet. Strategien mit Selektion auf der Basis von BLUP ebvs oder individuellem Phänotyp mit nachfolgender Zufallspaarung wurden mit Partnerselektionsstrategien verglichen, die Portfolioanalyse zur gemeinsamen Beachtung von Zuchtwert und Inzucht verwendeten. Eine Methode adaptierter MITTELWERTE TOTALER ABSOLUTER ABWEICHUNGEN (MOTAD) Methode wurde beim Partnerselektionsmodell zur Definition optimaler Paarungen in Hinblick auf Gesamtzuchtwert und Inzucht bei einer Populationsheritabilität von 0,2 verwendet. Verglichen mit Zufallspaarung nach Selektion auf BLUP ebvs waren die Inzuchtgrade nach 10 Selektionsjahren von 0,23 auf 0,11 reduziert und additiver Zuchtfortschritt war dabei wenig beeinträchtigt oder nahm sogar zu. Die Ergebnisse weisen darauf hin, daß Information, die

  17. Genetic studies on leaf rolling and some root traits under drought ...

    African Journals Online (AJOL)

    Genetic studies on leaf rolling and some root traits under drought conditions in rice (Oryza sativa L.) AA Allah. Abstract. Crossing was made between three resistant and two susceptible parents to determine the genetic characteristics under drought conditions during 2002 and 2003 rice growing seasons. The resistant ...

  18. DMPD: The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. [Dynamic Macrophage Pathway CSML Database

    Lifescience Database Archive (English)

    Full Text Available 10669111 The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. Qur...e The Lps locus: genetic regulation of host responses to bacteriallipopolysaccharide. Authors Qur

  19. Bucket Foundation Response Under Various Displacement Rates

    DEFF Research Database (Denmark)

    Vaitkunaite, Evelina; Nielsen, Benjaminn Nordahl; Ibsen, Lars Bo

    2016-01-01

    The present testing program aims at showing the pore pressure response around a bucket foundation skirt as well as the load and displacement change due to ten different displacement rates. Research findings are useful for a numerical model calibration focusing on the design of the upwind foundation...... in a multi-bucket foundation system. The foundation model is at a scale of approximately 1:20 prototype foundation size. The tests are performed in a pressure tank with the foundation model installed in dense sand. Based on the data, the conclusion is that the bucket foundation design in a storm case should...

  20. Unfolding an under-determined neutron spectrum using genetic algorithm based Monte Carlo

    International Nuclear Information System (INIS)

    Suman, V.; Sarkar, P.K.

    2011-01-01

    Spallation in addition to the other photon-neutron reactions in target materials and different components in accelerators may result in production of huge amount of energetic protons which further leads to the production of neutron and contributes to the main component of the total dose. For dosimetric purposes in accelerator facilities the detector measurements doesn't provide directly the actual neutron flux values but a cumulative picture. To obtain Neutron spectrum from the measured data, response functions of the measuring instrument together with the measurements are used into many unfolding techniques which are frequently used for unfolding the hidden spectral information. Here we discuss a genetic algorithm based unfolding technique which is in the process of development. Genetic Algorithm is a stochastic method based on natural selection, which mimics Darwinian theory of survival of the best. The above said method has been tested to unfold the neutron spectra obtained from a reaction carried out at an accelerator facility, with energetic carbon ions on thick silver target along with its respective neutron response of BC501A liquid scintillation detector. The problem dealt here is under-determined where the number of measurements is less than the required energy bin information. The results so obtained were compared with those obtained using the established unfolding code FERDOR, which unfolds data for completely determined problems. It is seen that the genetic algorithm based solution has a reasonable match with the results of FERDOR, when smoothening carried out by Monte Carlo is taken into consideration. This method appears to be a promising candidate for unfolding neutron spectrum in cases of under-determined and over-determined, where measurements are more. The method also has advantages of flexibility, computational simplicity and works well without need of any initial guess spectrum. (author)

  1. Drought response and genetic diversity in Pisum fulvum, a wild relative of domesticated pea

    OpenAIRE

    Naim-Feil, Erez; Toren, Maya; Aubert, Gregoire; Rubinstein, Mor; Rosen, Ada; Eshed, Ravit; Sherman, Amir; Ophir, Ron; Saranga, Yehoshua; Abbo, Shahal

    2017-01-01

    Productivity of grain crops in semi-arid environments is often affected by drought, which is likely to increase due to predicted climate changes. Wild pea (Pisum fulvum, Pf) accessions sampled across its ecological amplitude in Israel (350-850 mm annual precipitation) were used to assess the genetic diversity for drought responses. We hypothesized that native species evolving under east Mediterranean climate carry adaptive traits to cope with drought stress. Accessions were classified accordi...

  2. Humanized Androgen Receptor Mice: A Genetic Model for Differential Response to Prostate Cancer Therapy

    Science.gov (United States)

    2012-07-01

    sig- nificant in cancer . AR-R753Q is especially intriguing since as a germline mutation it underlies rat testicular feminization as well as cases of...prostate cancers . Her research is focused on novel therapeutic interventions and designs and she is funded by several peer reviewed grants. The author...Genetic Model for Differential Response to Prostate Cancer Therapy PRINCIPAL INVESTIGATOR: Diane M. Robins, Ph.D

  3. Impact of genetic polymorphisms on clinical response to antithrombotics

    Directory of Open Access Journals (Sweden)

    Kena J Lanham

    2010-06-01

    Full Text Available Kena J Lanham1,2, Julie H Oestreich3, Steven P Dunn1,2, Steven R Steinhubl41Pharmacy Services, UK HealthCare, University of Kentucky, Lexington, Kentucky, USA; 2Department of Pharmacy Practice and Science, College of Pharmacy, University of Kentucky, Lexington, Kentucky, USA; 3Department of Pharmacy Practice, College of Pharmacy, University of Nebraska, Omaha, Nebraska, USA; 4The Medicines Company, Zurich, Switzerland and The Geisinger Clinic, Danville, Pennsylvania, USAAbstract: Antithrombotic therapy, including anticoagulants as well as antiplatelet drugs, is an important component in the treatment of cardiovascular disease. Variability in response to such medications, of which pharmacogenetic response is a major source, can decrease or enhance the benefits expected. This review is a comprehensive assessment of the literature published to date on the effects of genetic polymorphisms on the actions of a variety of antithrombotic medications, including warfarin, clopidogrel, prasugrel, and aspirin. Literature evaluating surrogate markers in addition to the impact of pharmacogenetics on clinical outcomes has been reviewed. The results of the studies are conflicting as to what degree pharmacogenetics will affect medication management in cardiovascular disease. Additional research is necessary to discover, characterize, and prospectively evaluate genetic and non-genetic factors that impact antithrombotic treatment in order to maximize the effectiveness and limit the harmful effects of these valuable agents.Keywords: aspirin, warfarin, clopidogrel, prasugrel, pharmacogenetic, antithrombotic, antiplatelet

  4. Genetic analysis of fertility restoration under CGMS system in rice ...

    Indian Academy of Sciences (India)

    Cytoplasmic genetic male sterility (CGMS) resulting from nuclear-cytoplasmic interaction has been commercially exploited for the production of F1 hybrid seed in rice. The. CGMS system involves three lines, namely a cytoplasmic male sterile (CMS) line, a maintainer line and a restorer line where restorer line (R line) ...

  5. Genetic analysis of fertility restoration under CGMS system in rice ...

    Indian Academy of Sciences (India)

    Abstract. We studied the genetics of fertility restoration by producing three-way test cross (TWTC) hybrids involved different combi- nations of restorers, maintainers and partial restorers of rice. Pollen and spikelet fertility of 16 TWTC hybrids were studied. Six TWTC involving restorer/restorer combinations as male parents ...

  6. Genetic Basis for Variation in Wheat Grain Yield in Response to Varying Nitrogen Application.

    Science.gov (United States)

    Mahjourimajd, Saba; Taylor, Julian; Sznajder, Beata; Timmins, Andy; Shahinnia, Fahimeh; Rengel, Zed; Khabaz-Saberi, Hossein; Kuchel, Haydn; Okamoto, Mamoru; Langridge, Peter

    2016-01-01

    Nitrogen (N) is a major nutrient needed to attain optimal grain yield (GY) in all environments. Nitrogen fertilisers represent a significant production cost, in both monetary and environmental terms. Developing genotypes capable of taking up N early during development while limiting biomass production after establishment and showing high N-use efficiency (NUE) would be economically beneficial. Genetic variation in NUE has been shown previously. Here we describe the genetic characterisation of NUE and identify genetic loci underlying N response under different N fertiliser regimes in a bread wheat population of doubled-haploid lines derived from a cross between two Australian genotypes (RAC875 × Kukri) bred for a similar production environment. NUE field trials were carried out at four sites in South Australia and two in Western Australia across three seasons. There was genotype-by-environment-by-treatment interaction across the sites and also good transgressive segregation for yield under different N supply in the population. We detected some significant Quantitative Trait Loci (QTL) associated with NUE and N response at different rates of N application across the sites and years. It was also possible to identify lines showing positive N response based on the rankings of their Best Linear Unbiased Predictions (BLUPs) within a trial. Dissecting the complexity of the N effect on yield through QTL analysis is a key step towards elucidating the molecular and physiological basis of NUE in wheat.

  7. Genetic Basis for Variation in Wheat Grain Yield in Response to Varying Nitrogen Application.

    Directory of Open Access Journals (Sweden)

    Saba Mahjourimajd

    Full Text Available Nitrogen (N is a major nutrient needed to attain optimal grain yield (GY in all environments. Nitrogen fertilisers represent a significant production cost, in both monetary and environmental terms. Developing genotypes capable of taking up N early during development while limiting biomass production after establishment and showing high N-use efficiency (NUE would be economically beneficial. Genetic variation in NUE has been shown previously. Here we describe the genetic characterisation of NUE and identify genetic loci underlying N response under different N fertiliser regimes in a bread wheat population of doubled-haploid lines derived from a cross between two Australian genotypes (RAC875 × Kukri bred for a similar production environment. NUE field trials were carried out at four sites in South Australia and two in Western Australia across three seasons. There was genotype-by-environment-by-treatment interaction across the sites and also good transgressive segregation for yield under different N supply in the population. We detected some significant Quantitative Trait Loci (QTL associated with NUE and N response at different rates of N application across the sites and years. It was also possible to identify lines showing positive N response based on the rankings of their Best Linear Unbiased Predictions (BLUPs within a trial. Dissecting the complexity of the N effect on yield through QTL analysis is a key step towards elucidating the molecular and physiological basis of NUE in wheat.

  8. Adaptive genetic potential of coniferous forest tree species under climate change: implications for sustainable forest management

    Science.gov (United States)

    Mihai, Georgeta; Birsan, Marius-Victor; Teodosiu, Maria; Dumitrescu, Alexandru; Daia, Mihai; Mirancea, Ionel; Ivanov, Paula; Alin, Alexandru

    2017-04-01

    Mountain ecosystems are extremely vulnerable to climate change. The real potential for adaptation depends upon the existence of a wide genetic diversity in trees populations, upon the adaptive genetic variation, respectively. Genetic diversity offers the guarantee that forest species can survive, adapt and evolve under the influence of changing environmental conditions. The aim of this study is to evaluate the genetic diversity and adaptive genetic potential of two local species - Norway spruce and European silver fir - in the context of regional climate change. Based on data from a long-term provenance experiments network and climate variables spanning over more than 50 years, we have investigated the impact of climatic factors on growth performance and adaptation of tree species. Our results indicate that climatic and geographic factors significantly affect forest site productivity. Mean annual temperature and annual precipitation amount were found to be statistically significant explanatory variables. Combining the additive genetic model with the analysis of nuclear markers we obtained different images of the genetic structure of tree populations. As genetic indicators we used: gene frequencies, genetic diversity, genetic differentiation, genetic variance, plasticity. Spatial genetic analyses have allowed identifying the genetic centers holding high genetic diversity which will be valuable sources of gene able to buffer the negative effects of future climate change. Correlations between the marginal populations and in the optimal vegetation, between the level of genetic diversity and ecosystem stability, will allow the assessment of future risks arising from current genetic structure. Therefore, the strategies for sustainable forest management have to rely on the adaptive genetic variation and local adaptation of the valuable genetic resources. This work was realized within the framework of the project GENCLIM (Evaluating the adaptive potential of the main

  9. The genetic regulation of infant immune responses to vaccination

    Directory of Open Access Journals (Sweden)

    Melanie eNewport

    2015-02-01

    Full Text Available A number of factors are recognised to influence immune responses to vaccinations including age, gender, the dose and quality of the antigen used, the number of doses given, the route of administration and the nutritional status of the recipient. Additionally, several immunogenetic studies have identified associations between polymorphisms in genes encoding immune response proteins, both innate and adaptive, and variation in responses to vaccines. Variants in the genes encoding Toll-like receptors, HLA molecules, cytokines, cytokine receptors have associated with heterogeneity of responses to a wide range of vaccines including measles, hepatitis B, influenza A, BCG, Haemophilus influenzae type b and certain Neisseria meningitidis serotypes, amongst others. However, the vast majority of these studies have been conducted in older children and adults and there are very few data available from studies conducted in infants. This paper reviews the evidence to date that host genes influencing vaccines responses in these older population and identifies a large gap in our understanding of the genetic regulation of responses in early life. . Given the high mortality from infection in early life and the challenges of developing vaccines that generate effective immune responses in the context of the developing immune system further research on infant populations is required.

  10. Genetic analysis of anther culture response in maize.

    Science.gov (United States)

    Petolino, J F; Thompson, S A

    1987-06-01

    Response frequencies in maize (Zea mays L.) anthers cultured in vitro were examined in a diallel set of crosses among four commercial inbred lines. Significant differences among the genotypes were observed, with the crosses H99xFR16 and Pa91xFR16 displaying the highest responses. General (GCA) and specific (SCA) combining ability mean squares were calculated and determined to be highly significant. GCA effects among the parental lines were highest for FR16 and lowest for LH38. Nongenotypic, plant-toplant differences were also found to make a significant contribution to the overall variation observed. The results from this study indicate that parents which give rise to highly responsive hybrids can be identified and that genetic improvement is possible through selection.

  11. Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

    DEFF Research Database (Denmark)

    Lu, Yi; Cuellar-Partida, Gabriel; Painter, Jodie N

    2015-01-01

    Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address...... this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested...... that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We...

  12. A genetically encoded biosensor for visualising hypoxia responses in vivo

    Directory of Open Access Journals (Sweden)

    Tvisha Misra

    2017-02-01

    Full Text Available Cells experience different oxygen concentrations depending on location, organismal developmental stage, and physiological or pathological conditions. Responses to reduced oxygen levels (hypoxia rely on the conserved hypoxia-inducible factor 1 (HIF-1. Understanding the developmental and tissue-specific responses to changing oxygen levels has been limited by the lack of adequate tools for monitoring HIF-1 in vivo. To visualise and analyse HIF-1 dynamics in Drosophila, we used a hypoxia biosensor consisting of GFP fused to the oxygen-dependent degradation domain (ODD of the HIF-1 homologue Sima. GFP-ODD responds to changing oxygen levels and to genetic manipulations of the hypoxia pathway, reflecting oxygen-dependent regulation of HIF-1 at the single-cell level. Ratiometric imaging of GFP-ODD and a red-fluorescent reference protein reveals tissue-specific differences in the cellular hypoxic status at ambient normoxia. Strikingly, cells in the larval brain show distinct hypoxic states that correlate with the distribution and relative densities of respiratory tubes. We present a set of genetic and image analysis tools that enable new approaches to map hypoxic microenvironments, to probe effects of perturbations on hypoxic signalling, and to identify new regulators of the hypoxia response.

  13. ANTHOCYANIN PIGMENTATION IN TRITICUM AESTIVUM L.: GENETIC BASIS AND ROLE UNDER ABIOTIC STRESS CONDITIONS

    Directory of Open Access Journals (Sweden)

    Tereshchenko O.Yu.

    2012-08-01

    Full Text Available Anthocyanins are secondary metabolites of plants. They have a wide range of biological activity such as antioxidant, photoprotection, osmoregulation, heavy metal ions chelation, antimicrobial and antifungal activities, which help plants to survive under different stress conditions. Bread wheat (T. aestivum L. can have purple pigmentation provided by anthocyanin compounds in different organs, such as grain pericarp, coleoptile, culm, leaf blades, leaf sheaths, glumes and anthers. However, the genetic mechanisms underlying formation of these traits as well as contribution of the pigmentation to stress tolerance have not been widely studied in wheat. The aim of the current study was to investigate molecular-genetic mechanisms underlying anthocyanin pigmentation in different wheat organs and to estimate the role of the pigmentation under different abiotic stress conditions in wheat seedlings. In the current study, near-isogenic lines (NILs: cv. ‘Saratovskaya 29’ (‘S29’ and lines i:S29Pp1Pp2PF and i:S29Pp1Pp3P developed on the ‘S29’ background but having grain pericarp coloration (genes Pp and more intense coleoptile (Rc, culm (Pc, leaf blade (Plb, leaf sheath (Pls pigmentation in comparison with ‘S29’, were used. Comparative transcriptional analysis of the five structural genes Chs, Chi, F3h, Dfr, Ans, encoding enzymes participating in the anthocyanin biosynthesis, was performed in different organs of NILs. It was shown that the presence of the Rc, Pc, Plb, Pls and Pp alleles conferring strong anthocyanin pigmentation induced more intense transcription of the structural genes, suggesting the genes Rc, Pc, Plb, Pls and Pp to play a regulatory role in anthocyanin biosynthesis network. To evaluate the role of anthocyanins in stress response at the seedling stage, growth ability of the NILs and anthocyanin content in their coleoptiles were assessed after treatments with NaCl (100 and 200 mM, CdCl2 (25 and 50 μM and 15% PEG 6000

  14. Genetic analysis of water-deficit response traits in maize.

    Science.gov (United States)

    Ahmad, M; Saleem, M; Ahsan, M; Ahmad, A

    2016-03-28

    A set of sixty inbred lines of maize (Zea mays L.) were screened in the greenhouse at the seedling stage under both normal and water-deficit conditions. Six water deficit-tolerant inbred lines were selected based on root to shoot ratios. These selected lines were crossed in a diallel pattern. The parental, F1, and reciprocal cross plants were planted in a field under both normal and water-deficit conditions. Normal irrigation was applied to the control set, while the water-deficit set received 50% of normal irrigation levels. Analyses of variance of various morpho-physiological parameters identified significant differences among the selected lines under both conditions, indicating the presence of significant genetic variability. Variance components for general combining ability (GCA), specific combining ability (SCA), and reciprocal effects for all the parameters were estimated to determine the relative importance of additive and non-additive or dominance type of gene action. Variance components for GCA were larger than for SCA indicating the preponderance of additive types of gene action for all the traits under study. Hybrids developed from inbred lines W-10 and W-64SP proved to have the best grain yield under normal and water-deficit conditions. Under water-deficit conditions, the best performing cross was B-34 x W-10. Hence, these inbred lines and the hybrids might be of value in future breeding programs.

  15. Genetic Components of Root Architecture Remodeling in Response to Salt Stress

    KAUST Repository

    Julkowska, Magdalena

    2017-11-07

    Salinity of the soil is highly detrimental to plant growth. Plants respond by a redistribution of root mass between main and lateral roots, yet the genetic machinery underlying this process is still largely unknown. Here, we describe the natural variation among 347 Arabidopsis thaliana accessions in root system architecture (RSA) and identify the traits with highest natural variation in their response to salt. Salt-induced changes in RSA were associated with 100 genetic loci using genome-wide association studies (GWAS). Two candidate loci associated with lateral root development were validated and further investigated. Changes in CYP79B2 expression in salt stress positively correlated with lateral root development in accessions, and cyp79b2 cyp79b3 double mutants developed fewer and shorter lateral roots under salt stress, but not in control conditions. By contrast, high HKT1 expression in the root repressed lateral root development, which could be partially rescued by addition of potassium. The collected data and Multi-Variate analysis of multiple RSA traits, available through the Salt_NV_Root App, capture root responses to salinity. Together, our results provide a better understanding of effective RSA remodeling responses, and the genetic components involved, for plant performance in stress conditions.

  16. Biology, Genetics, and Environment: Underlying Factors Influencing Alcohol Metabolism.

    Science.gov (United States)

    Wall, Tamara L; Luczak, Susan E; Hiller-Sturmhöfel, Susanne

    2016-01-01

    Gene variants encoding several of the alcohol-metabolizing enzymes, alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), are among the largest genetic associations with risk for alcohol dependence. Certain genetic variants (i.e., alleles)--particularly the ADH1B*2, ADH1B*3, ADH1C*1, and ALDH2*2 alleles--have been associated with lower rates of alcohol dependence. These alleles may lead to an accumulation of acetaldehyde during alcohol metabolism, which can result in heightened subjective and objective effects. The prevalence of these alleles differs among ethnic groups; ADH1B*2 is found frequently in northeast Asians and occasionally Caucasians, ADH1B*3 is found predominantly in people of African ancestry, ADH1C*1 varies substantially across populations, and ALDH2*2 is found almost exclusively in northeast Asians. Differences in the prevalence of these alleles may account at least in part for ethnic differences in alcohol consumption and alcohol use disorder (AUD). However, these alleles do not act in isolation to influence the risk of AUD. For example, the gene effects of ALDH2*2 and ADH1B*2 seem to interact. Moreover, other factors have been found to influence the extent to which these alleles affect a person's alcohol involvement, including developmental stage, individual characteristics (e.g., ethnicity, antisocial behavior, and behavioral undercontrol), and environmental factors (e.g., culture, religion, family environment, and childhood adversity).

  17. Legume genetic resources and transcriptome dynamics under abiotic stress conditions.

    Science.gov (United States)

    Abdelrahman, Mostafa; Jogaiah, Sudisha; Burritt, David J; Tran, Lam-Son Phan

    2018-01-04

    Grain legumes are an important source of nutrition and income for billions of consumers and farmers around the world. However, the low productivity of new legume varieties, due to the limited genetic diversity available for legume breeding programmes and poor policymaker support, combined with an increasingly unpredictable global climate is resulting in a large gap between current yields and the increasing demand for legumes as food. Hence, there is a need for novel approaches to develop new high-yielding legume cultivars that are able to cope with a range of environmental stressors. Next-generation technologies are providing the tools that could enable the more rapid and cost-effective genomic and transcriptomic studies for most major crops, allowing the identification of key functional and regulatory genes involved in abiotic stress resistance. In this review, we provide an overview of the recent achievements regarding abiotic stress resistance in a wide range of legume crops and highlight the transcriptomic and miRNA approaches that have been used. In addition, we critically evaluate the availability and importance of legume genetic resources with desirable abiotic stress resistance traits. © 2018 John Wiley & Sons Ltd.

  18. A simple genetic architecture underlies morphological variation in dogs.

    Directory of Open Access Journals (Sweden)

    Adam R Boyko

    2010-08-01

    Full Text Available Domestic dogs exhibit tremendous phenotypic diversity, including a greater variation in body size than any other terrestrial mammal. Here, we generate a high density map of canine genetic variation by genotyping 915 dogs from 80 domestic dog breeds, 83 wild canids, and 10 outbred African shelter dogs across 60,968 single-nucleotide polymorphisms (SNPs. Coupling this genomic resource with external measurements from breed standards and individuals as well as skeletal measurements from museum specimens, we identify 51 regions of the dog genome associated with phenotypic variation among breeds in 57 traits. The complex traits include average breed body size and external body dimensions and cranial, dental, and long bone shape and size with and without allometric scaling. In contrast to the results from association mapping of quantitative traits in humans and domesticated plants, we find that across dog breeds, a small number of quantitative trait loci (< or = 3 explain the majority of phenotypic variation for most of the traits we studied. In addition, many genomic regions show signatures of recent selection, with most of the highly differentiated regions being associated with breed-defining traits such as body size, coat characteristics, and ear floppiness. Our results demonstrate the efficacy of mapping multiple traits in the domestic dog using a database of genotyped individuals and highlight the important role human-directed selection has played in altering the genetic architecture of key traits in this important species.

  19. Genetic dissection of seed vigour traits in maize (Zea mays L.) under ...

    Indian Academy of Sciences (India)

    [Shi Y., Li G., Tian Z., Wang Z., Wang X., Zhu Y., Chen Y., Guo S., Qi J., Zhang X. and Ku L. 2016 Genetic dissection of seed vigour traits in maize (Zea mays L.) under low-temperature conditions. J. Genet. 95, 1017–1022]. Introduction. Seed vigour, an important factor governing the seed qual- ity, reflects potential seed ...

  20. Genetic Influences on Physiological and Subjective Responses to an Aerobic Exercise Session among Sedentary Adults

    International Nuclear Information System (INIS)

    Karoly, H. C.; Stevens, C.; Harlaar, N.; Hutchison, K. E.; Bryan, A. D.; Magnan, R. E.

    2012-01-01

    To determine whether genetic variants suggested by the literature to be associated with physiology and fitness phenotypes predicted differential physiological and subjective responses to a bout of aerobic exercise among inactive but otherwise healthy adults. Method. Participants completed a 30-minute submaximal aerobic exercise session. Measures of physiological and subjective responding were taken before, during, and after exercise. 14 single nucleotide polymorphisms (SNPs) that have been previously associated with various exercise phenotypes were tested for associations with physiological and subjective response to exercise phenotypes. Results. We found that two SNPs in the FTO gene (rs8044769 and rs3751812) were related to positive affect change during exercise. Two SNPs in the CREB1 gene (rs2253206 and 2360969) were related to change in temperature during exercise and with maximal oxygen capacity (VO 2 max). The SLIT2 SNP rs1379659 and the FAM5C SNP rs1935881 were associated with norepinephrine change during exercise. Finally, the OPRM1 SNP rs1799971 was related to changes in norepinephrine, lactate, and rate of perceived exertion (RPE) during exercise. Conclusion. Genetic factors influence both physiological and subjective responses to exercise. A better understanding of genetic factors underlying physiological and subjective responses to aerobic exercise has implications for development and potential tailoring of exercise interventions.

  1. Rapid genetic restoration of a keystone species exhibiting delayed demographic response

    Science.gov (United States)

    Genetic founder effects are often expected when animals colonize restored habitat in fragmented landscapes, but empirical data on genetic responses to restoration are limited. We examined the genetic response of banner-tailed kangaroo rats (Dipodomys spectabilis) to landscape-scale grassland restor...

  2. Performance of diverse wheat genetic stocks under moisture stress condition

    International Nuclear Information System (INIS)

    Seher, M.; Shabbir, G.; Rasheed, A.

    2015-01-01

    This study was conducted to evaluate divergent wheat germplasm for their performance under drought and control conditions. The germplasm consists of wheat land races of Pakistan, advanced D-genome synthetic derivatives and high yielding varieties of Pakistan. This wide array of germplasm was selected to identify sources, which can be opted later by the wheat breeders while breeding for drought tolerance. The evaluation parameters involved some important physiochemical testing and morphological characteristics in the field under drought and control conditions. Based on these parameters, 13 wheat genotypes were selected on the basis of their best performance regarding morphological and physiological parameters. These genotypes exhibited higher yield under drought stress conditions and increased percentage of proline, sugar, SOD and protein content under laboratory conditions as compared to the susceptible genotypes. Correlation studies revealed that grains per spike (GPS) and thousand grain weight (TGW) had direct relationship with spike length (SL), proline and sugar content under both control and drought conditions. Thus, these parameters can be used as selection criteria for the identification of tolerant genotypes. (author)

  3. Genetic variation of loci potentially under selection confounds species-genetic diversity correlations in a fragmented habitat.

    Science.gov (United States)

    Bertin, Angeline; Gouin, Nicolas; Baumel, Alex; Gianoli, Ernesto; Serratosa, Juan; Osorio, Rodomiro; Manel, Stephanie

    2017-01-01

    Positive species-genetic diversity correlations (SGDCs) are often thought to result from the parallel influence of neutral processes on genetic and species diversity. Yet, confounding effects of non-neutral mechanisms have not been explored. Here, we investigate the impact of non-neutral genetic diversity on SGDCs in high Andean wetlands. We compare correlations between plant species diversity and genetic diversity (GD) calculated with and without loci potentially under selection (outlier loci). The study system includes 2188 specimens from five species (three common aquatic macroinvertebrate and two dominant plant species) that were genotyped for 396 amplified fragment length polymorphism loci. We also appraise the importance of neutral processes on SGDCs by investigating the influence of habitat fragmentation features. Significant positive SGDCs were detected for all five species (mean SGDC = 0.52 ± 0.05). While only a few outlier loci were detected in each species, they resulted in significant decreases in GD and in SGDCs. This supports the hypothesis that neutral processes drive species-genetic diversity relationships in high Andean wetlands. Unexpectedly, the effects on genetic diversity GD of the habitat fragmentation characteristics in this study increased with the presence of outlier loci in two species. Overall, our results reveal pitfalls in using habitat features to infer processes driving SGDCs and show that a few loci potentially under selection are enough to cause a significant downward bias in SGDC. Investigating confounding effects of outlier loci thus represents a useful approach to evidence the contribution of neutral processes on species-genetic diversity relationships. © 2016 John Wiley & Sons Ltd.

  4. New developments on the neurobiological and pharmaco-genetic mechanisms underlying internet and videogame addiction.

    Science.gov (United States)

    Weinstein, Aviv; Lejoyeux, Michel

    2015-03-01

    There is emerging evidence that the psychobiological mechanisms underlying behavioral addictions such as internet and videogame addiction resemble those of addiction for substances of abuse. Review of brain imaging, treatment and genetic studies on videogame and internet addiction. Literature search of published articles between 2009 and 2013 in Pubmed using "internet addiction" and "videogame addiction" as the search word. Twenty-nine studies have been selected and evaluated under the criteria of brain imaging, treatment, and genetics. Brain imaging studies of the resting state have shown that long-term internet game playing affected brain regions responsible for reward, impulse control and sensory-motor coordination. Brain activation studies have shown that videogame playing involved changes in reward and loss of control and that gaming pictures have activated regions similarly to those activated by cue-exposure to drugs. Structural studies have shown alterations in the volume of the ventral striatum possible as result of changes in reward. Furthermore, videogame playing was associated with dopamine release similar in magnitude to those of drugs of abuse and that there were faulty inhibitory control and reward mechanisms videogame addicted individuals. Finally, treatment studies using fMRI have shown reduction in craving for videogames and reduced associated brain activity. Videogame playing may be supported by similar neural mechanisms underlying drug abuse. Similar to drug and alcohol abuse, internet addiction results in sub-sensitivity of dopamine reward mechanisms. Given the fact that this research is in its early stage it is premature to conclude that internet addiction is equivalent to substance addictions. © American Academy of Addiction Psychiatry.

  5. Provincial responsibility for carbon emissions in China under different principles

    International Nuclear Information System (INIS)

    Zhang, Youguo

    2015-01-01

    By applying a multi-regional input–output model, the study compares the provincial responsibility for carbon emissions and provincial carbon multipliers in China under seven responsibility-allocating principles, including three basic principles, the production, income and consumption principles, and four shared responsibility principles, the income-weighted, consumption weighted, comprehensive, and weighted comprehensive principles. Empirical results indicate that carbon multipliers of provinces under these principles are significantly different from one another. The carbon multipliers of provinces with higher ratios of carbon intensive sectors in their outputs are also larger. At the same time, the carbon multipliers of the same sector in the provinces are significantly different from one another. Changing the principle causes significant changes in the responsibility for carbon emissions of some provinces, but only slight changes in the responsibilities of some other provinces. However, the responsibilities of provinces with large economic sizes (output) are always the largest, whereas provinces with the smallest economic sizes are always the smallest regardless of the principles. Further, this study proposes a series of regional policies for carbon mitigation according to provincial carbon multipliers and responsibility allocation features under the different principles. - Highlights: • We link regional environmental responsibility to seven benefit principles. • We analyze provincial responsibility for carbon emissions in China. • We also report provincial carbon multipliers under different principles. • We compare the seven principles from the regional perspective. • Policy implications of the study are discussed.

  6. Genetic engineering of Trypanosoma (Dutonella vivax and in vitro differentiation under axenic conditions.

    Directory of Open Access Journals (Sweden)

    Simon D'Archivio

    2011-12-01

    Full Text Available Trypanosoma vivax is one of the most common parasites responsible for animal trypanosomosis, and although this disease is widespread in Africa and Latin America, very few studies have been conducted on the parasite's biology. This is in part due to the fact that no reproducible experimental methods had been developed to maintain the different evolutive forms of this trypanosome under laboratory conditions. Appropriate protocols were developed in the 1990s for the axenic maintenance of three major animal Trypanosoma species: T. b. brucei, T. congolense and T. vivax. These pioneer studies rapidly led to the successful genetic manipulation of T. b. brucei and T. congolense. Advances were made in the understanding of these parasites' biology and virulence, and new drug targets were identified. By contrast, challenging in vitro conditions have been developed for T. vivax in the past, and this per se has contributed to defer both its genetic manipulation and subsequent gene function studies. Here we report on the optimization of non-infective T. vivax epimastigote axenic cultures and on the process of parasite in vitro differentiation into metacyclic infective forms. We have also constructed the first T. vivax specific expression vector that drives constitutive expression of the luciferase reporter gene. This vector was then used to establish and optimize epimastigote transfection. We then developed highly reproducible conditions that can be used to obtain and select stably transfected mutants that continue metacyclogenesis and are infectious in immunocompetent rodents.

  7. Integration of population genetic structure and plant response to climate change: sustaining genetic resources through evaluation of projected threats

    Science.gov (United States)

    Bryce A. Richardson; Marcus V. Warwell; Mee-Sook Kim; Ned B. Klopfenstein; Geral I. McDonald

    2010-01-01

    To assess threats or predict responses to disturbances, or both, it is essential to recognize and characterize the population structures of forest species in relation to changing environments. Appropriate management of these genetic resources in the future will require (1) understanding the existing genetic diversity/variation and population structure of forest trees...

  8. Investigations on response time of magnetorheological elastomer under compression mode

    Science.gov (United States)

    Zhu, Mi; Yu, Miao; Qi, Song; Fu, Jie

    2018-05-01

    For efficient fast control of vibration system with magnetorheological elastomer (MRE)-based smart device, the response time of MRE material is the key parameter which directly affects the control performance of the vibration system. For a step coil current excitation, this paper proposed a Maxwell behavior model with time constant λ to describe the normal force response of MRE, and the response time of MRE was extracted through the separation of coil response time. Besides, the transient responses of MRE under compression mode were experimentally investigated, and the effects of (i) applied current, (ii) particle distribution and (iii) compressive strain on the response time of MRE were addressed. The results revealed that the three factors can affect the response characteristic of MRE quite significantly. Besides the intrinsic importance for contributing to the response evaluation and effective design of MRE device, this study may conduce to the optimal design of controller for MRE control system.

  9. Multilevel selection 2: Estimating the genetic parameters determining inheritance and response to selection.

    Science.gov (United States)

    Bijma, Piter; Muir, William M; Ellen, Esther D; Wolf, Jason B; Van Arendonk, Johan A M

    2007-01-01

    Interactions among individuals are universal, both in animals and in plants and in natural as well as domestic populations. Understanding the consequences of these interactions for the evolution of populations by either natural or artificial selection requires knowledge of the heritable components underlying them. Here we present statistical methodology to estimate the genetic parameters determining response to multilevel selection of traits affected by interactions among individuals in general populations. We apply these methods to obtain estimates of genetic parameters for survival days in a population of layer chickens with high mortality due to pecking behavior. We find that heritable variation is threefold greater than that obtained from classical analyses, meaning that two-thirds of the full heritable variation is hidden to classical analysis due to social interactions. As a consequence, predicted responses to multilevel selection applied to this population are threefold greater than classical predictions. This work, combined with the quantitative genetic theory for response to multilevel selection presented in an accompanying article in this issue, enables the design of selection programs to effectively reduce competitive interactions in livestock and plants and the prediction of the effects of social interactions on evolution in natural populations undergoing multilevel selection.

  10. Genetic dissection of acute ethanol responsive gene networks in prefrontal cortex: functional and mechanistic implications.

    Directory of Open Access Journals (Sweden)

    Aaron R Wolen

    Full Text Available Individual differences in initial sensitivity to ethanol are strongly related to the heritable risk of alcoholism in humans. To elucidate key molecular networks that modulate ethanol sensitivity we performed the first systems genetics analysis of ethanol-responsive gene expression in brain regions of the mesocorticolimbic reward circuit (prefrontal cortex, nucleus accumbens, and ventral midbrain across a highly diverse family of 27 isogenic mouse strains (BXD panel before and after treatment with ethanol.Acute ethanol altered the expression of ~2,750 genes in one or more regions and 400 transcripts were jointly modulated in all three. Ethanol-responsive gene networks were extracted with a powerful graph theoretical method that efficiently summarized ethanol's effects. These networks correlated with acute behavioral responses to ethanol and other drugs of abuse. As predicted, networks were heavily populated by genes controlling synaptic transmission and neuroplasticity. Several of the most densely interconnected network hubs, including Kcnma1 and Gsk3β, are known to influence behavioral or physiological responses to ethanol, validating our overall approach. Other major hub genes like Grm3, Pten and Nrg3 represent novel targets of ethanol effects. Networks were under strong genetic control by variants that we mapped to a small number of chromosomal loci. Using a novel combination of genetic, bioinformatic and network-based approaches, we identified high priority cis-regulatory candidate genes, including Scn1b, Gria1, Sncb and Nell2.The ethanol-responsive gene networks identified here represent a previously uncharacterized intermediate phenotype between DNA variation and ethanol sensitivity in mice. Networks involved in synaptic transmission were strongly regulated by ethanol and could contribute to behavioral plasticity seen with chronic ethanol. Our novel finding that hub genes and a small number of loci exert major influence over the ethanol

  11. Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.

    Science.gov (United States)

    Patel, Jaina; Mercimek-Mahmutoglu, Saadet

    2016-10-01

    Epilepsy is one of the most common neurological disorders in childhood. Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy. Certain inherited metabolic disorders presenting with epileptic encephalopathy can be treated with disease specific diet, vitamin, amino acid or cofactor supplementations. In those disorders, disease specific therapy is successful to achieve good seizure control and improve long-term neurodevelopmental outcome. For this reason, intractable epilepsy with global developmental delay or history of developmental regression warrants detailed metabolic investigations for the possibility of an underlying treatable inherited metabolic disorder, which should be undertaken as first line investigations. An underlying genetic etiology in epileptic encephalopathy has been supported by recent studies such as array comparative genomic hybridization, targeted next generation sequencing panels, whole exome and whole genome sequencing. These studies report a diagnostic yield up to 70%, depending on the applied genetic testing as well as number of patients enrolled. In patients with epileptic encephalopathy, a stepwise approach for diagnostic work-up will help to diagnose treatable inherited metabolic disorders quickly. Application of detailed genetic investigations such as targeted next generation sequencing as second line and whole exome sequencing as third line testing will diagnose underlying genetic disease which will help for genetic counseling as well as guide for prenatal diagnosis. Knowledge of underlying genetic cause will provide novel insights into the pathogenesis of epileptic encephalopathy and pave the ground towards the development of targeted neuroprotective treatment strategies to improve the health outcome of children with epileptic encephalopathy.

  12. Genetics Home Reference: biotin-thiamine-responsive basal ganglia disease

    Science.gov (United States)

    ... eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience ... Drug Therapy Genetic Counseling Palliative Care Surgery and Rehabilitation Related Information How are genetic conditions diagnosed? How ...

  13. Genetic architecture of wild soybean (Glycine soja) response to soybean cyst nematode (Heterodera glycines).

    Science.gov (United States)

    Zhang, Hengyou; Song, Qijian; Griffin, Joshua D; Song, Bao-Hua

    2017-12-01

    The soybean cyst nematode (SCN) is one of the most destructive pathogens of soybean plants worldwide. Host-plant resistance is an environmentally friendly method to mitigate SCN damage. To date, the resistant soybean cultivars harbor limited genetic variation, and some are losing resistance. Thus, a better understanding of the genetic mechanisms of the SCN resistance, as well as developing diverse resistant soybean cultivars, is urgently needed. In this study, a genome-wide association study (GWAS) was conducted using 1032 wild soybean (Glycine soja) accessions with over 42,000 single-nucleotide polymorphisms (SNPs) to understand the genetic architecture of G. soja resistance to SCN race 1. Ten SNPs were significantly associated with the response to race 1. Three SNPs on chromosome 18 were localized within the previously identified quantitative trait loci (QTLs), and two of which were localized within a strong linkage disequilibrium block encompassing a nucleotide-binding (NB)-ARC disease resistance gene (Glyma.18G102600). Genes encoding methyltransferases, the calcium-dependent signaling protein, the leucine-rich repeat kinase family protein, and the NB-ARC disease resistance protein, were identified as promising candidate genes. The identified SNPs and candidate genes can not only shed light on the molecular mechanisms underlying SCN resistance, but also can facilitate soybean improvement employing wild genetic resources.

  14. Ecological Genetics of Vernalization Response in Bromus tectorum L. (Poaceae)

    Science.gov (United States)

    MEYER, SUSAN E.; NELSON, DAVID L.; CARLSON, STEPHANIE L.

    2004-01-01

    • Background and Aims Bromus tectorum (cheatgrass or downy brome) is an exotic annual grass that is dominant over large areas of former shrubland in western North America. To flower in time for seed production in early summer, B. tectorum plants generally require vernalization at winter temperatures, either as imbibed seeds or as established seedlings. • Methods Variation in response to increasing periods of vernalization as seeds or seedlings for progeny of ten full‐sib families from each of four B. tectorum populations from contrasting habitats was studied. • Key Results As vernalization was increased from 0 to 10 weeks, the proportion of plants flowering within 20 weeks increased, weeks to initiation of flowering decreased, and seed yield per plant increased, regardless of whether plants were vernalized as seeds or seedlings. Most of the variation was accounted for by differences among populations. Plants of the warm desert population flowered promptly even without vernalization, while those of the cold desert, foothill and montane populations showed incremental changes in response variables as a function of vernalization period. Populations differed in among‐family variance, with the warm desert population generally showing the least variance and the cold desert population the most. Variation among populations and among families within populations decreased as vernalization period increased, whereas the non‐genetic component of variance showed no such pattern. • Conclusions Variation in vernalization response was found to be adaptively significant and apparently represents the result of contrasting selection regimes on a range of founder genotypes. PMID:15087300

  15. The Stress Response of Escherichia coli under Microgravity.

    Science.gov (United States)

    Lynch, S.; Matin, A.

    At the onset of adverse environmental conditions, bacteria induce a controlled stress response to enable survival. Escherichia coli induces stress-specific reactions in response to a variety of environmental strains. A family of proteins termed sigma (s) factors is pivotal to the regulation of stress responses in bacteria. In particular Sigma S (ss) regulates several stress responses in E. coli and serves as an important global stress regulatory protein. Under optimal growth conditions, levels of ss are maintained at low cellular concentrations primarily via a proteolytic regulatory mechanism. At the onset of stress, ss levels increase due to increased stability of the molecule, facilitating transcriptional initiation and up regulation of specific stress related proteins. Concentrations of ss can therefore be indicative of cellular stress levels. Recent work by Kendrick et al demonstrated that Salmonella species grown under conditions of simulated microgravity display increased virulence - a stress-related phenotype. Using E. coli as a model system we aim to investigate the stress response elicited by the organism under conditions of simulated microgravity (SMG). SMG is generated in specially constructed rotary cell culture systems termed HARVs (High Aspect Ratio Vessels- Synthecon Inc.). By rotating at constant velocity around a vertical axis an environment is produced in which the gravitational vectors are randomized over the surface of the cell, resulting in an overall-time-averaged gravitational vector of 10-2 x g (4). E. coli cultures grown in HARVs under conditions of normal gravity (NG) and SMG repeatedly display slower growth kinetics under SMG. Western analysis of cells at exponential and stationary phase of growth from both cultures reveal similar levels of ss exist in exponential phase under both SMG and NG conditions. However, during stationary phase, levels of ss are at least 2-fold higher under conditions of SMG as compared to NG. Translational fusion

  16. Long-term response to genomic selection: effects of estimation method and reference population structure for different genetic architectures.

    Science.gov (United States)

    Bastiaansen, John W M; Coster, Albart; Calus, Mario P L; van Arendonk, Johan A M; Bovenhuis, Henk

    2012-01-24

    Genomic selection has become an important tool in the genetic improvement of animals and plants. The objective of this study was to investigate the impacts of breeding value estimation method, reference population structure, and trait genetic architecture, on long-term response to genomic selection without updating marker effects. Three methods were used to estimate genomic breeding values: a BLUP method with relationships estimated from genome-wide markers (GBLUP), a Bayesian method, and a partial least squares regression method (PLSR). A shallow (individuals from one generation) or deep reference population (individuals from five generations) was used with each method. The effects of the different selection approaches were compared under four different genetic architectures for the trait under selection. Selection was based on one of the three genomic breeding values, on pedigree BLUP breeding values, or performed at random. Selection continued for ten generations. Differences in long-term selection response were small. For a genetic architecture with a very small number of three to four quantitative trait loci (QTL), the Bayesian method achieved a response that was 0.05 to 0.1 genetic standard deviation higher than other methods in generation 10. For genetic architectures with approximately 30 to 300 QTL, PLSR (shallow reference) or GBLUP (deep reference) had an average advantage of 0.2 genetic standard deviation over the Bayesian method in generation 10. GBLUP resulted in 0.6% and 0.9% less inbreeding than PLSR and BM and on average a one third smaller reduction of genetic variance. Responses in early generations were greater with the shallow reference population while long-term response was not affected by reference population structure. The ranking of estimation methods was different with than without selection. Under selection, applying GBLUP led to lower inbreeding and a smaller reduction of genetic variance while a similar response to selection was

  17. Good and bad protons: genetic aspects of acidity stress responses in plants.

    Science.gov (United States)

    Shavrukov, Yuri; Hirai, Yoshihiko

    2016-01-01

    Physiological aspects of acidity stress in plants (synonymous with H(+) rhizotoxicity or low-pH stress) have long been a focus of research, in particular with respect to acidic soils where aluminium and H(+) rhizotoxicities often co-occur. However, toxic H(+) and Al(3+) elicit different response mechanisms in plants, and it is important to consider their effects separately. The primary aim of this review was to provide the current state of knowledge regarding the genetics of the specific reactions to low-pH stress in growing plants. A comparison of the results gleaned from quantitative trait loci analysis and global transcriptome profiling of plants in response to high proton concentrations revealed a two-stage genetic response: (i) in the short-term, proton pump H(+)-ATPases present the first barrier in root cells, allocating an excess of H(+) into either the apoplast or vacuole; the ensuing defence signaling system involves auxin, salicylic acid, and methyl jasmonate, which subsequently initiate expression of STOP and DREB transcription factors as well as chaperone ROF; (2) the long-term response includes other genes, such as alternative oxidase and type II NAD(P)H dehydrogenase, which act to detoxify dangerous reactive oxygen species in mitochondria, and help plants better manage the stress. A range of transporter genes including those for nitrate (NTR1), malate (ALMT1), and heavy metals are often up-regulated by H(+) rhizotoxicity. Expansins, cell-wall-related genes, the γ-aminobutyric acid shunt and biochemical pH-stat genes also reflect changes in cell metabolism and biochemistry in acidic conditions. However, the genetics underlying the acidity stress response of plants is complicated and only fragmentally understood. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  18. Genetic and Genomic Response to Selection for Food Consumption in Drosophila melanogaster

    Science.gov (United States)

    Garlapow, Megan E.; Everett, Logan J.; Zhou, Shanshan; Gearhart, Alexander W.; Fay, Kairsten A.; Huang, Wen; Morozova, Tatiana V.; Arya, Gunjan H.; Turlapati, Lavanya; Armour, Genevieve St.; Hussain, Yasmeen N.; McAdams, Sarah E.; Fochler, Sophia; Mackay, Trudy F. C.

    2016-01-01

    Food consumption is an essential component of animal fitness; however, excessive food intake in humans increases risk for many diseases. The roles of neuroendocrine feedback loops, food sensing modalities, and physiological state in regulating food intake are well understood, but not the genetic basis underlying variation in food consumption. Here, we applied ten generations of artificial selection for high and low food consumption in replicate populations of Drosophila melanogaster. The phenotypic response to selection was highly asymmetric, with significant responses only for increased food consumption and minimal correlated responses in body mass and composition. We assessed the molecular correlates of selection responses by DNA and RNA sequencing of the selection lines. The high and low selection lines had variants with significantly divergent allele frequencies within or near 2,081 genes and 3,526 differentially expressed genes in one or both sexes. A total of 519 genes were both genetically divergent and differentially expressed between the divergent selection lines. We performed functional analyses of the effects of RNAi suppression of gene expression and induced mutations for 27 of these candidate genes that have human orthologs and the strongest statistical support, and confirmed that 25 (93%) affected the mean and/or variance of food consumption. PMID:27704301

  19. Mapping QTL for Seed Germinability under Low Temperature Using a New High-Density Genetic Map of Rice

    Directory of Open Access Journals (Sweden)

    Ningfei Jiang

    2017-07-01

    Full Text Available Mapping major quantitative trait loci (QTL responsible for rice seed germinability under low temperature (GULT can provide valuable genetic source for improving cold tolerance in rice breeding. In this study, 124 rice backcross recombinant inbred lines (BRILs derived from a cross indica cv. Changhui 891 and japonica cv. 02428 were genotyped through re-sequencing technology. A bin map was generated which includes 3057 bins covering distance of 1266.5 cM with an average of 0.41 cM between markers. On the basis of newly constructed high-density genetic map, six QTL were detected ranging from 40 to 140 kb on Nipponbare genome. Among these, two QTL qCGR8 and qGRR11 alleles shared by 02428 could increase GULT and seed germination recovery rate after cold stress, respectively. However, qNGR1 and qNGR4 may be two major QTL affecting indica Changhui 891germination under normal condition. QTL qGRR1 and qGRR8 affected the seed germination recovery rate after cold stress and the alleles with increasing effects were shared by the Changhui 891 could improve seed germination rate after cold stress dramatically. These QTL could be a highly valuable genetic factors for cold tolerance improvement in rice lines. Moreover, the BRILs developed in this study will serve as an appropriate choice for mapping and studying genetic basis of rice complex traits.

  20. Distinct genetic architecture underlies the emergence of sleep loss and prey-seeking behavior in the Mexican cavefish.

    Science.gov (United States)

    Yoshizawa, Masato; Robinson, Beatriz G; Duboué, Erik R; Masek, Pavel; Jaggard, James B; O'Quin, Kelly E; Borowsky, Richard L; Jeffery, William R; Keene, Alex C

    2015-02-20

    Sleep is characterized by extended periods of quiescence and reduced responsiveness to sensory stimuli. Animals ranging from insects to mammals adapt to environments with limited food by suppressing sleep and enhancing their response to food cues, yet little is known about the genetic and evolutionary relationship between these processes. The blind Mexican cavefish, Astyanax mexicanus is a powerful model for elucidating the genetic mechanisms underlying behavioral evolution. A. mexicanus comprises an extant ancestral-type surface dwelling morph and at least five independently evolved cave populations. Evolutionary convergence on sleep loss and vibration attraction behavior, which is involved in prey seeking, have been documented in cavefish raising the possibility that enhanced sensory responsiveness underlies changes in sleep. We established a system to study sleep and vibration attraction behavior in adult A. mexicanus and used high coverage quantitative trait loci (QTL) mapping to investigate the functional and evolutionary relationship between these traits. Analysis of surface-cave F2 hybrid fish and an outbred cave population indicates that independent genetic factors underlie changes in sleep/locomotor activity and vibration attraction behavior. High-coverage QTL mapping with genotyping-by-sequencing technology identify two novel QTL intervals that associate with locomotor activity and include the narcolepsy-associated tp53 regulating kinase. These QTLs represent the first genomic localization of locomotor activity in cavefish and are distinct from two QTLs previously identified as associating with vibration attraction behavior. Taken together, these results localize genomic regions underlying sleep/locomotor and sensory changes in cavefish populations and provide evidence that sleep loss evolved independently from enhanced sensory responsiveness.

  1. Response of a Light Aircraft Under Gust Loads

    Directory of Open Access Journals (Sweden)

    P. Chudý

    2004-01-01

    Full Text Available This project presents work performed by the Institute of Aerospace Engineering, Brno University of Technology. The primary purpose of this work was to estimate the aeroelastic response of a light aircraft under gust loads. In the past, the gust response has been investigated using the Pratt - Walker formula. This formula is derived from the response of a rigid airplane to a discrete gust. However, the Pratt-Walker formula does not capture either the stochastic nature of continuous turbulence or the effects of structural flexibility. The analysis described here was performed using the advanced FEM software package MSC Nastran.

  2. Mechanisms underlying cellular responses of cells from haemopoietic tissue to low dose/low LET radiation

    Energy Technology Data Exchange (ETDEWEB)

    Munira A Kadhim

    2010-03-05

    To accurately define the risks associated with human exposure to relevant environmental doses of low LET ionizing radiation, it is necessary to completely understand the biological effects at very low doses (i.e., less than 0.1 Gy), including the lowest possible dose, that of a single electron track traversal. At such low doses, a range of studies have shown responses in biological systems which are not related to the direct interaction of radiation tracks with DNA. The role of these “non-targeted” responses in critical tissues is poorly understood and little is known regarding the underlying mechanisms. Although critical for dosimetry and risk assessment, the role of individual genetic susceptibility in radiation risk is not satisfactorily defined at present. The aim of the proposed grant is to critically evaluate radiation-induced genomic instability and bystander responses in key stem cell populations from haemopoietic tissue. Using stem cells from two mouse strains (CBA/H and C57BL/6J) known to differ in their susceptibility to radiation effects, we plan to carefully dissect the role of genetic predisposition on two non-targeted radiation responses in these models; the bystander effect and genomic instability, which we believe are closely related. We will specifically focus on the effects of low doses of low LET radiation, down to doses approaching a single electron traversal. Using conventional X-ray and γ-ray sources, novel dish separation and targeted irradiation approaches, we will be able to assess the role of genetic variation under various bystander conditions at doses down to a few electron tracks. Irradiations will be carried out using facilities in routine operation for bystander targeted studies. Mechanistic studies of instability and the bystander response in different cell lineages will focus initially on the role of cytokines which have been shown to be involved in bystander signaling and the initiation of instability. These studies also aim

  3. Evolutionary response of the egg hatching date of a herbivorous insect under climate change

    Science.gov (United States)

    van Asch, Margriet; Salis, Lucia; Holleman, Leonard J. M.; van Lith, Bart; Visser, Marcel E.

    2013-03-01

    Under changing climatic conditions, species need to adapt to their new environment. Genetic adaptation is crucial to prevent population extinction but examples where climate change leads to genetic changes in wild populations have been few. The synchronization between the timing of egg hatching of a herbivorous insect, the winter moth (Operophtera brumata), and the seasonal bud burst of its food plant, oak (Quercus robur), has been disrupted by climate change and a quantitative genetic model predicts that selection will delay the egg hatching date. Here we show, using both long-term observational data and experiments, that the egg hatching date has changed genetically, resulting in closer synchrony with oak bud burst. The observed rate of change matches the predicted rate of change of one day per year. Hence, altered selection pressures, caused by environmental change, result in a rapid adaptive response in insect phenology. These genetic changes in a key life-history trait in this herbivorous insect therefore seem to be fast enough to match the climate-change-induced advancement of their host phenology.

  4. RAD-QTL Mapping Reveals Both Genome-Level Parallelism and Different Genetic Architecture Underlying the Evolution of Body Shape in Lake Whitefish (Coregonus clupeaformis) Species Pairs.

    Science.gov (United States)

    Laporte, Martin; Rogers, Sean M; Dion-Côté, Anne-Marie; Normandeau, Eric; Gagnaire, Pierre-Alexandre; Dalziel, Anne C; Chebib, Jobran; Bernatchez, Louis

    2015-05-21

    Parallel changes in body shape may evolve in response to similar environmental conditions, but whether such parallel phenotypic changes share a common genetic basis is still debated. The goal of this study was to assess whether parallel phenotypic changes could be explained by genetic parallelism, multiple genetic routes, or both. We first provide evidence for parallelism in fish shape by using geometric morphometrics among 300 fish representing five species pairs of Lake Whitefish. Using a genetic map comprising 3438 restriction site-associated DNA sequencing single-nucleotide polymorphisms, we then identified quantitative trait loci underlying body shape traits in a backcross family reared in the laboratory. A total of 138 body shape quantitative trait loci were identified in this cross, thus revealing a highly polygenic architecture of body shape in Lake Whitefish. Third, we tested for evidence of genetic parallelism among independent wild populations using both a single-locus method (outlier analysis) and a polygenic approach (analysis of covariation among markers). The single-locus approach provided limited evidence for genetic parallelism. However, the polygenic analysis revealed genetic parallelism for three of the five lakes, which differed from the two other lakes. These results provide evidence for both genetic parallelism and multiple genetic routes underlying parallel phenotypic evolution in fish shape among populations occupying similar ecological niches. Copyright © 2015 Laporte et al.

  5. Stimuli-Responsive Polymer-Clay Nanocomposites under Electric Fields

    OpenAIRE

    Piao, Shang Hao; Kwon, Seung Hyuk; Choi, Hyoung Jin

    2016-01-01

    This short Feature Article reviews electric stimuli-responsive polymer/clay nanocomposites with respect to their fabrication, physical characteristics and electrorheological (ER) behaviors under applied electric fields when dispersed in oil. Their structural characteristics, morphological features and thermal degradation behavior were examined by X-ray diffraction pattern, scanning electron microscopy and transmission electron microscopy, and thermogravimetric analysis, respectively. Particul...

  6. Genetic variation underlying psychosis-inducing effects of cannabis: critical review and future directions.

    Science.gov (United States)

    Decoster, Jeroen; van Os, Jim; Myin-Germeys, Inez; De Hert, Marc; van Winkel, Ruud

    2012-01-01

    Cannabis use is associated with an increased risk for psychotic disorder, yet most cannabis users do not develop psychosis, suggesting that other factors are also involved. This paper reviews the available evidence suggesting that differential sensitivity to the psychosis-inducing effects of cannabis may be related to underlying genetic liability. There is robust evidence that persons at psychometric risk for psychosis are most vulnerable to display psychotic symptoms subsequent to the use of cannabis. Multiple studies have also found that persons at familial risk for psychosis have an increased sensitivity to the effects of cannabis. Together, these findings support the concept of a biological interaction between cannabis use and one's underlying genetic vulnerability. At the molecular-genetic level, however, few (if any) interactions have been consistently replicated, although a reported interaction with variation in AKT1 is promising and deserves further follow-up. The apparent lack of consistent replication can be ascribed to problems of initial gene selection, statistical power, a bias towards positive results and insufficient attempts at true replication, leading to the conclusion that increased sample sizes, greater density of genetic markers and a stronger focus on true replication are necessary. The major challenge for molecular-genetic gene-environment interaction research will be to combine the agnostic detection of disorder-associated genetic variants from genome-wide studies with the hypothesis-based approach from epidemiological and neurobiological studies. Possible strategies for future cannabis interaction studies are discussed.

  7. Exposing College Students to Exercise: The Training Interventions and Genetics of Exercise Response (TIGER) Study

    Science.gov (United States)

    Sailors, Mary H.; Jackson, Andrew S.; McFarlin, Brian K.; Turpin, Ian; Ellis, Kenneth J.; Foreyt, John P.; Hoelscher, Deanna M.; Bray, Molly S.

    2010-01-01

    Objective: The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. Participants: A multiracial/ethnic cohort (N = 1,567; 39% male), age 18 to 35 years,…

  8. Cytoplasmic FMR1-Interacting Protein 2 Is a Major Genetic Factor Underlying Binge Eating.

    Science.gov (United States)

    Kirkpatrick, Stacey L; Goldberg, Lisa R; Yazdani, Neema; Babbs, R Keith; Wu, Jiayi; Reed, Eric R; Jenkins, David F; Bolgioni, Amanda F; Landaverde, Kelsey I; Luttik, Kimberly P; Mitchell, Karen S; Kumar, Vivek; Johnson, W Evan; Mulligan, Megan K; Cottone, Pietro; Bryant, Camron D

    2017-05-01

    Eating disorders are lethal and heritable; however, the underlying genetic factors are unknown. Binge eating is a highly heritable trait associated with eating disorders that is comorbid with mood and substance use disorders. Therefore, understanding its genetic basis will inform therapeutic development that could improve several comorbid neuropsychiatric conditions. We assessed binge eating in closely related C57BL/6 mouse substrains and in an F 2 cross to identify quantitative trait loci associated with binge eating. We used gene targeting to validate candidate genetic factors. Finally, we used transcriptome analysis of the striatum via messenger RNA sequencing to identify the premorbid transcriptome and the binge-induced transcriptome to inform molecular mechanisms mediating binge eating susceptibility and establishment. C57BL/6NJ but not C57BL/6J mice showed rapid and robust escalation in palatable food consumption. We mapped a single genome-wide significant quantitative trait locus on chromosome 11 (logarithm of the odds = 7.4) to a missense mutation in cytoplasmic FMR1-interacting protein 2 (Cyfip2). We validated Cyfip2 as a major genetic factor underlying binge eating in heterozygous knockout mice on a C57BL/6N background that showed reduced binge eating toward a wild-type C57BL/6J-like level. Transcriptome analysis of premorbid genetic risk identified the enrichment terms morphine addiction and retrograde endocannabinoid signaling, whereas binge eating resulted in the downregulation of a gene set enriched for decreased myelination, oligodendrocyte differentiation, and expression. We identified Cyfip2 as a major significant genetic factor underlying binge eating and provide a behavioral paradigm for future genome-wide association studies in populations with increased genetic complexity. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  9. Molecular responses of genetically modified maize to abiotic stresses as determined through proteomic and metabolomic analyses.

    Directory of Open Access Journals (Sweden)

    Rafael Fonseca Benevenuto

    Full Text Available Some genetically modified (GM plants have transgenes that confer tolerance to abiotic stressors. Meanwhile, other transgenes may interact with abiotic stressors, causing pleiotropic effects that will affect the plant physiology. Thus, physiological alteration might have an impact on the product safety. However, routine risk assessment (RA analyses do not evaluate the response of GM plants exposed to different environmental conditions. Therefore, we here present a proteome profile of herbicide-tolerant maize, including the levels of phytohormones and related compounds, compared to its near-isogenic non-GM variety under drought and herbicide stresses. Twenty differentially abundant proteins were detected between GM and non-GM hybrids under different water deficiency conditions and herbicide sprays. Pathway enrichment analysis showed that most of these proteins are assigned to energetic/carbohydrate metabolic processes. Among phytohormones and related compounds, different levels of ABA, CA, JA, MeJA and SA were detected in the maize varieties and stress conditions analysed. In pathway and proteome analyses, environment was found to be the major source of variation followed by the genetic transformation factor. Nonetheless, differences were detected in the levels of JA, MeJA and CA and in the abundance of 11 proteins when comparing the GM plant and its non-GM near-isogenic variety under the same environmental conditions. Thus, these findings do support molecular studies in GM plants Risk Assessment analyses.

  10. Comparative transcriptome analyses reveal the genetic basis underlying the immune function of three amphibians' skin.

    Science.gov (United States)

    Fan, Wenqiao; Jiang, Yusong; Zhang, Meixia; Yang, Donglin; Chen, Zhongzhu; Sun, Hanchang; Lan, Xuelian; Yan, Fan; Xu, Jingming; Yuan, Wanan

    2017-01-01

    Skin as the first barrier against external invasions plays an essential role for the survival of amphibians on land. Understanding the genetic basis of skin function is significant in revealing the mechanisms underlying immunity of amphibians. In this study, we de novo sequenced and comparatively analyzed skin transcriptomes from three different amphibian species, Andrias davidianus, Bufo gargarizans, and Rana nigromaculata Hallowell. Functional classification of unigenes in each amphibian showed high accordance, with the most represented GO terms and KEGG pathways related to basic biological processes, such as binding and metabolism and immune system. As for the unigenes, GO and KEGG distributions of conserved orthologs in each species were similar, with the predominantly enriched pathways including RNA polymerase, nucleotide metabolism, and defense. The positively selected orthologs in each amphibian were also similar, which were primarily involved in stimulus response, cell metabolic, membrane, and catalytic activity. Furthermore, a total of 50 antimicrobial peptides from 26 different categories were identified in the three amphibians, and one of these showed high efficiency in inhibiting the growth of different bacteria. Our understanding of innate immune function of amphibian skin has increased basis on the immune-related unigenes, pathways, and antimicrobial peptides in amphibians.

  11. Comparative transcriptome analyses reveal the genetic basis underlying the immune function of three amphibians’ skin

    Science.gov (United States)

    Zhang, Meixia; Yang, Donglin; Chen, Zhongzhu; Lan, Xuelian; Yan, Fan; Xu, Jingming; Yuan, Wanan

    2017-01-01

    Skin as the first barrier against external invasions plays an essential role for the survival of amphibians on land. Understanding the genetic basis of skin function is significant in revealing the mechanisms underlying immunity of amphibians. In this study, we de novo sequenced and comparatively analyzed skin transcriptomes from three different amphibian species, Andrias davidianus, Bufo gargarizans, and Rana nigromaculata Hallowell. Functional classification of unigenes in each amphibian showed high accordance, with the most represented GO terms and KEGG pathways related to basic biological processes, such as binding and metabolism and immune system. As for the unigenes, GO and KEGG distributions of conserved orthologs in each species were similar, with the predominantly enriched pathways including RNA polymerase, nucleotide metabolism, and defense. The positively selected orthologs in each amphibian were also similar, which were primarily involved in stimulus response, cell metabolic, membrane, and catalytic activity. Furthermore, a total of 50 antimicrobial peptides from 26 different categories were identified in the three amphibians, and one of these showed high efficiency in inhibiting the growth of different bacteria. Our understanding of innate immune function of amphibian skin has increased basis on the immune-related unigenes, pathways, and antimicrobial peptides in amphibians. PMID:29267366

  12. GENETIC VARIABILITY OF CULTURED PLANT TISSUES UNDER NORMAL CONDITIONS AND UNDER STRESS

    Directory of Open Access Journals (Sweden)

    Dolgikh Yu.I.

    2012-08-01

    Full Text Available The genetic variability induced by in vitro conditions known as somaclonal variation is of practical interest due to its potential uses in plant breeding but, on the other hand, if clonal propagation or transformation is main goal, it becomes an unwelcome phenomenon. Thus, it is important to know frequency, the genomic distribution, the mechanisms and factors influencing somaclonal variation. We studied variability of PCR-based DNA markers of cultured tissues and regenerated plants of maize and bread wheat. The original A188 line of maize and the somaclones obtained were tested using 38 RAPD and 10 ISSR primers. None of the A188 plants showed variation in the RAPD and ISSR spectra for any of the primers used. However, the PCR spectra obtained from the somaclones demonstrated some variations, i.e., 22 RAPD primers and 6 ISSR primers differentiated at least one somaclonal variant from the progenitor line. Six SCAR markers were developed based on several RAPD and ISSR fragments. The inheritance of these SCAR markers was verified in the selfing progeny of each somaclone in the R1–R4 generations and in the hybrids, with A188 as the parental line in the F1 and F2 generations. These markers were sequenced and bioinformatic searches were performed to understand the molecular events that may underlie the variability observed in the somaclones. All changes were found in noncoding sequences and were induced by different molecular events, such as the insertion of long terminal repeat transposon, precise miniature inverted repeat transposable element (MITE excision, microdeletion, recombination, and a change in the pool of mitochondrial DNA. In two groups of independently produced somaclones, the same features (morphological, molecular were variable, which confirms the theory of ‘hot spots’ occurring in the genome. The presence of the same molecular markers in the somaclones and in different non-somaclonal maize variants suggests that in some cases

  13. Response of Magnetic Force Microscopy Probes under AC Magnetic Field

    Science.gov (United States)

    Sungthong, A.; Ruksasakchai, P.; Saengkaew, K.; Cheowanish, I.; Damrongsak, B.

    2017-09-01

    In this paper, magnetic force microscopy (MFM) probes with different coating materials were characterized under AC magnetic field. A perpendicular magnetic write head similar to those used in hard disk drives was employed as the AC magnetic field generator. In order to measure a response of MFM probes to AC magnetic field, a MFM probe under test was scanned, at a scan height of 10 nm, across the surface of the magnetic write head. During MFM imaging, the write head was biased by a sufficient magnitude of AC current, approximately 30 mA. A spectral analysis for a frequency sweep from 1 kHz to 100 MHz was extracted from post-processing MFM images. As expected, a MFM probe coated with hard magnetic alloys, i.e. FePt, has the lowest response to AC magnetic fields. MFM probes coated with soft magnetic alloys, i.e. NiFe and NiCoCr, have a relatively high and flat response across the frequency range. Ni coated MFM probe has the highest response to AC magnetic fields. In addition, CoCr and NiCo coated MFM probes show lower response than NiFe and NiCoCr probes at low frequencies; however, theirs response to AC magnetic field increase for the AC magnetic field with a frequency above 50 kHz. This can be implied that those MFM probes are a good candidate for being used to study the high-frequency performance of perpendicular magnetic write heads. Noting that response of all MFM probes significantly decreased when driven frequencies above 1 MHz due to the limitation of the hardware, i.e. response of quadrant photodiode and op-amp in a pre-amplifier.

  14. Cognitive mechanisms underlying disorganization of thought in a genetic syndrome (47,XXY)

    NARCIS (Netherlands)

    Van Rijn, Sophie; Aleman, Andre; De Sonneville, Leo; Swaab, Hanna

    Because of the risk for development of psychopathology such as psychotic symptoms, it has been suggested that studying men with the XXY karyotype may help in the search for underlying cognitive, neural and genetic mechanisms. The aim of this study was to identify cognitive mechanisms that may

  15. Genetic influence on blood pressure measured in the office, under laboratory stress and during real life

    NARCIS (Netherlands)

    Wang, Xiaoling; Ding, Xiuhua; Su, Shaoyong; Harshfield, Gregory; Treiber, Frank; Snieder, Harold

    To determine to what extent the genetic influences on blood pressure (BP) measured in the office, under psychologically stressful conditions in the laboratory and during real life are different from each other. Office BP, BP during a video game challenge and a social stressor interview, and 24-h

  16. A genetic analysis of relative growth rate and underlying components in Hordeum spontaneum

    NARCIS (Netherlands)

    Poorter, H.; Van Rijn, C.P.E.; Vanhala, T.K.; Verhoeven, K.J.F.; de Jong, Y.E.M.; Stams, A.J.M.; Lambers, H.

    2005-01-01

    Species from productive and unproductive habitats differ inherently in their relative growth rate (RGR) and a wide range of correlated quantitative traits. We investigated the genetic basis of this trait complex, and specifically assessed whether it is under the control of just one or a few genes

  17. Stimuli-Responsive Polymer-Clay Nanocomposites under Electric Fields

    Science.gov (United States)

    Piao, Shang Hao; Kwon, Seung Hyuk; Choi, Hyoung Jin

    2016-01-01

    This short Feature Article reviews electric stimuli-responsive polymer/clay nanocomposites with respect to their fabrication, physical characteristics and electrorheological (ER) behaviors under applied electric fields when dispersed in oil. Their structural characteristics, morphological features and thermal degradation behavior were examined by X-ray diffraction pattern, scanning electron microscopy and transmission electron microscopy, and thermogravimetric analysis, respectively. Particular focus is given to the electro-responsive ER characteristics of the polymer/clay nanocomposites in terms of the yield stress and viscoelastic properties along with their applications. PMID:28787852

  18. Stimuli-Responsive Polymer-Clay Nanocomposites under Electric Fields

    Directory of Open Access Journals (Sweden)

    Shang Hao Piao

    2016-01-01

    Full Text Available This short Feature Article reviews electric stimuli-responsive polymer/clay nanocomposites with respect to their fabrication, physical characteristics and electrorheological (ER behaviors under applied electric fields when dispersed in oil. Their structural characteristics, morphological features and thermal degradation behavior were examined by X-ray diffraction pattern, scanning electron microscopy and transmission electron microscopy, and thermogravimetric analysis, respectively. Particular focus is given to the electro-responsive ER characteristics of the polymer/clay nanocomposites in terms of the yield stress and viscoelastic properties along with their applications.

  19. Genetic risk profiles for cancer susceptibility and therapy response.

    Science.gov (United States)

    Bartsch, Helmut; Dally, Heike; Popanda, Odilia; Risch, Angela; Schmezer, Peter

    2007-01-01

    Cells in the body are permanently attacked by DNA-reactive species, both from intracellular and environmental sources. Inherited and acquired deficiencies in host defense mechanisms against DNA damage (metabolic and DNA repair enzymes) can modify cancer susceptibility as well as therapy response. Genetic profiles should help to identify high-risk individuals who subsequently can be enrolled in preventive measures or treated by tailored therapy regimens. Some of our attempts to define such risk profiles are presented. Cancer susceptibility: Single nucleotide polymorphisms (SNPs) in metabolic and repair genes were investigated in a hospital-based lung cancer case-control study. When evaluating the risk associated with different genotypes for N-acetyltransferases (Wikman et al. 2001) and glutathione-S-transferases (Risch et al. 2001), it is mandatory to distinguish between the three major histological subtypes of lung tumors. A promoter polymorphism of the myeloperoxidase gene MPO was shown to decrease lung cancer susceptibility mainly in small cell lung cancer (SCLC) (Dally et al. 2002). The CYP3A4*1B allele was also linked to an increased SCLC risk and in smoking women increased the risk of lung cancer eightfold (Dally et al. 2003b). Polymorphisms in DNA repair genes were shown to modulate lung cancer risk in smokers, and reduced DNA repair capacity elevated the disease risk (Rajaee-Behbahani et al. 2001). Investigations of several DNA repair gene variants revealed that lung cancer risk was only moderately affected by a single variant but was enhanced up to approximately threefold by specific risk allele combinations (Popanda et al. 2004). Therapy response: Inter-individual differences in therapy response are consistently observed with cancer chemotherapeutic agents. Initial results from ongoing studies showed that certain polymorphisms in drug transporter genes (ABCB1) differentially affect response outcome in histological subgroups of lung cancer. Stronger

  20. Association genetics and transcriptome analysis reveal a gibberellin-responsive pathway involved in regulating photosynthesis.

    Science.gov (United States)

    Xie, Jianbo; Tian, Jiaxing; Du, Qingzhang; Chen, Jinhui; Li, Ying; Yang, Xiaohui; Li, Bailian; Zhang, Deqiang

    2016-05-01

    Gibberellins (GAs) regulate a wide range of important processes in plant growth and development, including photosynthesis. However, the mechanism by which GAs regulate photosynthesis remains to be understood. Here, we used multi-gene association to investigate the effect of genes in the GA-responsive pathway, as constructed by RNA sequencing, on photosynthesis, growth, and wood property traits, in a population of 435 Populus tomentosa By analyzing changes in the transcriptome following GA treatment, we identified many key photosynthetic genes, in agreement with the observed increase in measurements of photosynthesis. Regulatory motif enrichment analysis revealed that 37 differentially expressed genes related to photosynthesis shared two essential GA-related cis-regulatory elements, the GA response element and the pyrimidine box. Thus, we constructed a GA-responsive pathway consisting of 47 genes involved in regulating photosynthesis, including GID1, RGA, GID2, MYBGa, and 37 photosynthetic differentially expressed genes. Single nucleotide polymorphism (SNP)-based association analysis showed that 142 SNPs, representing 40 candidate genes in this pathway, were significantly associated with photosynthesis, growth, and wood property traits. Epistasis analysis uncovered interactions between 310 SNP-SNP pairs from 37 genes in this pathway, revealing possible genetic interactions. Moreover, a structural gene-gene matrix based on a time-course of transcript abundances provided a better understanding of the multi-gene pathway affecting photosynthesis. The results imply a functional role for these genes in mediating photosynthesis, growth, and wood properties, demonstrating the potential of combining transcriptome-based regulatory pathway construction and genetic association approaches to detect the complex genetic networks underlying quantitative traits. © The Author 2016. Published by Oxford University Press on behalf of the Society for Experimental Biology. All rights

  1. Adaptive response in animals exposed to non-ionizing radiofrequency fields: some underlying mechanisms.

    Science.gov (United States)

    Cao, Yi; Tong, Jian

    2014-04-22

    During the last few years, our research group has been investigating the phenomenon of adaptive response in animals exposed to non-ionizing radiofrequency fields. The results from several separate studies indicated a significant increase in survival, decreases in genetic damage as well as oxidative damage and, alterations in several cellular processes in mice pre-exposed to radiofrequency fields and subsequently subjected to sub-lethal or lethal doses of γ-radiation or injected with bleomycin, a radiomimetic chemical mutagen. These observations indicated the induction of adaptive response providing the animals the ability to resist subsequent damage. Similar studies conducted by independent researchers in mice and rats have supported our observation on increased survival. In this paper, we have presented a brief review of all of our own and other independent investigations on radiofrequency fields-induced adaptive response and some underlying mechanisms discussed.

  2. Adaptive Response in Animals Exposed to Non-Ionizing Radiofrequency Fields: Some Underlying Mechanisms

    Directory of Open Access Journals (Sweden)

    Yi Cao

    2014-04-01

    Full Text Available During the last few years, our research group has been investigating the phenomenon of adaptive response in animals exposed to non-ionizing radiofrequency fields. The results from several separate studies indicated a significant increase in survival, decreases in genetic damage as well as oxidative damage and, alterations in several cellular processes in mice pre-exposed to radiofrequency fields and subsequently subjected to sub-lethal or lethal doses of γ-radiation or injected with bleomycin, a radiomimetic chemical mutagen. These observations indicated the induction of adaptive response providing the animals the ability to resist subsequent damage. Similar studies conducted by independent researchers in mice and rats have supported our observation on increased survival. In this paper, we have presented a brief review of all of our own and other independent investigations on radiofrequency fields-induced adaptive response and some underlying mechanisms discussed.

  3. Genetics Home Reference: thiamine-responsive megaloblastic anemia syndrome

    Science.gov (United States)

    ... Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia syndrome Printable PDF Open All Close All Enable ... the expand/collapse boxes. Description Thiamine-responsive megaloblastic anemia syndrome is a rare condition characterized by hearing ...

  4. Genetic predisposition for beta cell fragility underlies type 1 and type 2 diabetes.

    Science.gov (United States)

    Dooley, James; Tian, Lei; Schonefeldt, Susann; Delghingaro-Augusto, Viviane; Garcia-Perez, Josselyn E; Pasciuto, Emanuela; Di Marino, Daniele; Carr, Edward J; Oskolkov, Nikolay; Lyssenko, Valeriya; Franckaert, Dean; Lagou, Vasiliki; Overbergh, Lut; Vandenbussche, Jonathan; Allemeersch, Joke; Chabot-Roy, Genevieve; Dahlstrom, Jane E; Laybutt, D Ross; Petrovsky, Nikolai; Socha, Luis; Gevaert, Kris; Jetten, Anton M; Lambrechts, Diether; Linterman, Michelle A; Goodnow, Chris C; Nolan, Christopher J; Lesage, Sylvie; Schlenner, Susan M; Liston, Adrian

    2016-05-01

    Type 1 (T1D) and type 2 (T2D) diabetes share pathophysiological characteristics, yet mechanistic links have remained elusive. T1D results from autoimmune destruction of pancreatic beta cells, whereas beta cell failure in T2D is delayed and progressive. Here we find a new genetic component of diabetes susceptibility in T1D non-obese diabetic (NOD) mice, identifying immune-independent beta cell fragility. Genetic variation in Xrcc4 and Glis3 alters the response of NOD beta cells to unfolded protein stress, enhancing the apoptotic and senescent fates. The same transcriptional relationships were observed in human islets, demonstrating the role of beta cell fragility in genetic predisposition to diabetes.

  5. Leptin signal transduction underlies the differential metabolic response of LEW and WKY rats to cafeteria diet.

    Science.gov (United States)

    Martínez-Micaelo, N; González-Abuín, N; Ardévol, A; Pinent, M; Petretto, E; Behmoaras, J; Blay, M

    2016-01-01

    Although the effect of genetic background on obesity-related phenotypes is well established, the main objective of this study is to determine the phenotypic responses to cafeteria diet (CAF) of two genetically distinct inbred rat strains and give insight into the molecular mechanisms that might be underlying. Lewis (LEW) and Wistar-Kyoto (WKY) rats were fed with either a standard or a CAF diet. The effects of the diet and the strain in the body weight gain, food intake, respiratory quotient, biochemical parameters in plasma as well as in the expression of genes that regulate leptin signalling were determined. Whereas CAF diet promoted weight gain in LEW and WKY rats, as consequence of increased energy intake, metabolic management of this energy surplus was significantly affected by genetic background. LEW and WKY showed a different metabolic profile, LEW rats showed hyperglycaemia, hypertriglyceridemia and high FFA levels, ketogenesis, high adiposity index and inflammation, but WKY did not. Leptin signalling, and specifically the LepRb-mediated regulation of STAT3 activation and Socs3 gene expression in the hypothalamus were inversely modulated by the CAF diet in LEW (upregulated) and WKY rats (downregulated). In the present study, we show evidence of gene-environment interactions in obesity exerted by differential phenotypic responses to CAF diet between LEW and WKY rats. Specifically, we found the leptin-signalling pathway as a divergent point between the strain-specific adaptations to diet. © 2016 Society for Endocrinology.

  6. Genetic variation underlying resistance to infectious hematopoietic necrosis virus in a steelhead trout (Oncorhynchus mykiss) population

    Science.gov (United States)

    Brieuc, Marine S. O.; Purcell, Maureen K.; Palmer, Alexander D.; Naish, Kerry A.

    2015-01-01

    Understanding the mechanisms of host resistance to pathogens will allow insights into the response of wild populations to the emergence of new pathogens. Infectious hematopoietic necrosis virus (IHNV) is endemic to the Pacific Northwest and infectious to Pacific salmon and trout (Oncorhynchus spp.). Emergence of the M genogroup of IHNV in steelhead trout O. mykiss in the coastal streams of Washington State, between 2007 and 2011, was geographically heterogeneous. Differences in host resistance due to genetic change were hypothesized to be a factor influencing the IHNV emergence patterns. For example, juvenile steelhead trout losses at the Quinault National Fish Hatchery (QNFH) were much lower than those at a nearby facility that cultures a stock originally derived from the same source population. Using a classical quantitative genetic approach, we determined the potential for the QNFH steelhead trout population to respond to selection caused by the pathogen, by estimating the heritability for 2 traits indicative of IHNV resistance, mortality (h2 = 0.377 (0.226 - 0.550)) and days to death (h2 = 0.093 (0.018 - 0.203)). These results confirm that there is a genetic basis for resistance and that this population has the potential to adapt to IHNV. Additionally, genetic correlation between days to death and fish length suggests a correlated response in these traits to selection. Reduction of genetic variation, as well as the presence or absence of resistant alleles, could affect the ability of populations to adapt to the pathogen. Identification of the genetic basis for IHNV resistance could allow the assessment of the susceptibility of other steelhead populations.

  7. Evolutionary divergence of the genetic architecture underlying photoperiodism in the pitcher-plant mosquito, Wyeomyia smithii.

    Science.gov (United States)

    Lair, K P; Bradshaw, W E; Holzapfel, C M

    1997-12-01

    We determine the contribution of composite additive, dominance, and epistatic effects to the genetic divergence of photoperiodic response along latitudinal, altitudinal, and longitudinal gradients in the pitcher-plant mosquito, Wyeomyia smithii. Joint scaling tests of crosses between populations showed widespread epistasis as well as additive and dominance differences among populations. There were differences due to epistasis between an alpine population in North Carolina and populations in Florida, lowland North Carolina, and Maine. Longitudinal displacement resulted in differences due to epistasis between Florida and Alabama populations separated by 300 km but not between Maine and Wisconsin populations separated by 2000 km. Genetic differences between New Jersey and Ontario did not involve either dominance or epistasis and we estimated the minimum number of effective factors contributing to a difference in mean critical photoperiod of 5 SD between them as nE = 5. We propose that the genetic similarity of populations within a broad northern region is due to their more recent origin since recession of the Laurentide Ice Sheet and that the unique genetic architecture of each population is the result of both mutation and repeated migration-founder-flush episodes during the dispersal of W. smithii in North America. Our results suggest that differences in composite additive and dominance effects arise early in the genetic divergence of populations while differences due to epistasis accumulate after more prolonged isolation.

  8. Differential physiological and genetic responses of five European Scots pine provenances to induced water stress.

    Science.gov (United States)

    Carvalho, Ana; Pavia, Ivo; Fernandes, Cláudia; Pires, Jani; Correia, Carlos; Bacelar, Eunice; Moutinho-Pereira, José; Gaspar, Maria João; Bento, João; Silva, Maria Emília; Lousada, José Luís; Lima-Brito, José

    2017-08-01

    Pinus sylvestris L. (Scots pine) is the conifer with widest natural distribution area. Portugal constitutes its westernmost limit of distribution. Most of the Portuguese populations were planted but two autochthonous populations were recently ascribed to 'Serra do Gerês' (NW Portugal), and seem to be well adapted to the temperate climate. However, the ongoing climate changes may compromise their survival. With this study we intend to evaluate the anatomic-physiological and genetic responses of Scots pine from five European provenances ('Gerês', 'Puebla de Lillo', 'Montes Universales', Germany and Sweden) to three water availability regimes, in order to determine which one(s) present higher resistance to drought. Individuals from 'Gerês' presented the highest stability in photosynthetic reactions as well as the better photochemical and metabolic behaviours under drought (T3). Hence, the relative expression ratio of three water stress-responsive genes during drought was lower and gradual in 'Gerês', compared to all other provenances, followed by Germany. The results achieved in 'Gerês' and Germany provenances are very interesting since they reflected that the native populations of 'Gerês' along with the Portuguese Scots pine planted populations with a probable German provenance, have ability and high adaptive potential to respond to situations of water deficit. Moreover, the present genetic and physiological data demonstrated the urgent demand for the conservation of Portuguese Scots pine genetic resources as well as its use in plantation/afforestation of areas where the warming and drought has been affecting the survival of this species. Copyright © 2017 Elsevier GmbH. All rights reserved.

  9. Detection of thermogenesis in rodents in response to anti-obesity drugs and genetic modification.

    Science.gov (United States)

    Arch, Jonathan R S; Trayhurn, Paul

    2013-01-01

    Many compounds and genetic manipulations are claimed to confer resistance to obesity in rodents by raising energy expenditure. Examples taken from recent and older literature, demonstrate that such claims are often based on measurements of energy expenditure after body composition has changed, and depend on comparisons of energy expenditure divided by body weight. This is misleading because white adipose tissue has less influence than lean tissue on energy expenditure. Application of this approach to human data would suggest that human obesity is usually due to a low metabolic rate, which is not an accepted view. Increased energy expenditure per animal is a surer way of demonstrating thermogenesis, but even then it is important to know whether this is due to altered body composition (repartitioning), or increased locomotor activity rather than thermogenesis per se. Regression analysis offers other approaches. The thermogenic response to some compounds has a rapid onset and so cannot be due to altered body composition. These compounds usually mimic or activate the sympathetic nervous system. Thermogenesis occurs in, but may not be confined to, brown adipose tissue. It should not be assumed that weight loss in response to these treatments is due to thermogenesis unless there is a sustained increase in 24-h energy expenditure. Thyroid hormones and fibroblast growth factor 21 also raise energy expenditure before they affect body composition. Some treatments and genetic modifications alter the diurnal rhythm of energy expenditure. It is important to establish whether this is due to altered locomotor activity or efficiency of locomotion. There are no good examples of compounds that do not affect short-term energy expenditure but have a delayed effect. How and under what conditions a genetic modification or compound increases energy expenditure influences the decision on whether to seek drugs for the target or take a candidate drug into clinical studies.

  10. Detection of thermogenesis in rodents in response to anti-obesity drugs and genetic modification

    Directory of Open Access Journals (Sweden)

    Jonathan R S Arch

    2013-04-01

    Full Text Available Many compounds and genetic manipulations are claimed to confer resistance to obesity in rodents by raising energy expenditure. Examples taken from recent and older literature, demonstrate that such claims are often based on measurements of energy expenditure after body composition has changed and depend on comparisons of energy expenditure divided by body weight. This is misleading because white adipose tissue has less influence than lean tissue on energy expenditure. Application of this approach to human data would suggest that human obesity is usually due to a low metabolic rate, which is not an accepted view. Increased energy expenditure per animal is a surer way of demonstrating thermogenesis, but even then it is important to know whether this is due to altered body composition (repartitioning, or increased locomotor activity rather than thermogenesis per se. Regression analysis offers other approaches. The thermogenic response to some compounds has a rapid onset and so cannot be due to altered body composition. These compounds usually mimic or activate the sympathetic nervous system. Thermogenesis occurs in, but may not be confined to, brown adipose tissue. It should not be assumed that weight loss in response to these treatments is due to thermogenesis unless there is a sustained increase in 24-h energy expenditure. Thyroid hormones and fibroblast growth factor 21 also raise energy expenditure before they affect body composition. Some treatments and genetic modifications alter the diurnal rhythm of energy expenditure. It is important to establish whether this is due to altered locomotor activity or efficiency of locomotion. There are no good examples of compounds that do not affect short-term energy expenditure but have a delayed effect. How and under what conditions a genetic modification or compound increases energy expenditure influences the decision on whether to seek drugs for the target or take a candidate drug into clinical studies.

  11. Immune responsiveness of Japanese quail selected for egg yolk testosterone content under severe protein restriction.

    Science.gov (United States)

    Kankova, Zuzana; Okuliarova, Monika; Zeman, Michal

    2014-11-01

    Yolk testosterone concentrations vary in response to environmental conditions and different testosterone contents can subsequently modify the phenotypic traits of offspring. Apart from effects on growth, proactive behaviour and secondary sexual characteristics, the possible negative impacts of maternal testosterone on the immune system are often considered a limitation for its deposition. The effects of maternal testosterone can be modulated by postnatal environmental conditions, such as the availability of food resources. However, the majority of studies considering the effects of maternal testosterone on the immune system have been conducted under optimum conditions. We evaluated the influence of genetic selection for high (HET) and low (LET) egg testosterone content in Japanese quail on immune responsiveness of offspring to phytohaemagglutinin (PHA) and lipopolysaccharide (LPS) stimulation under severe protein restriction. Protein restriction negatively influenced body weight and performance in the PHA-test. We observed an increase in Cort (corticosterone) and He/Ly (heterophil/lymphocyte ratio) after LPS, while no changes occurred in total IgY levels in the protein-restricted group. HET quails showed higher body mass and total IgY levels and lower He/Ly ratio than LET quails, while the PHA index and Cort concentration did not differ between lines. No interactions were found between protein restriction and genetic line. In conclusion, the immune response was not compromised under conditions of severe protein restriction in the faster growing HET line compared with the LET line. We hypothesise that the immune responsiveness of birds with higher yolk testosterone may be linked with other maternally-derived substances in a context-dependent manner. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. AFLPs reveal different population genetic structure under contrasting environments in the marine snail Nucella lapillus L.

    Directory of Open Access Journals (Sweden)

    Belén Carro

    Full Text Available Dispersal has received growing attention in marine ecology, particularly since evidence obtained with up-to-date techniques challenged the traditional view. The dogwhelk Nucella lapillus L., a sedentary gastropod with direct development, is a good example: dispersal was traditionally assumed to be limited until studies with microsatellites disputed this idea. To shed some light on this controversy, the genetic structure of dogwhelk populations in northwest Spain was investigated with highly polymorphic AFLP markers giving special attention to the influence of hydrodynamic stress. In agreement with the expectations for a poor disperser, our results show a significant genetic structure at regional (<200 km and areal scales (<15 km. However, the spatial genetic structure varied with wave-exposure in the present case study: IBD was evident under sheltered conditions but absent from the exposed area where genetic differentiation was stronger. Our results provide evidence that differences in wave-exposure can exert a detectable influence on the genetic structure of coastal organisms, even in species without a planktonic larva.

  13. Genetic Regulation of Maternal Oxytocin Response and Its Influences on Maternal Behavior

    Directory of Open Access Journals (Sweden)

    Divya Mehta

    2016-01-01

    Full Text Available We interrogated the genetic modulation of maternal oxytocin response and its association with maternal behavior using genetic risk scores within the oxytocin receptor (OXTR gene. We identified a novel SNP, rs968389, to be significantly associated with maternal oxytocin response after a challenging mother-infant interaction task (Still Face Paradigm and maternal separation anxiety from the infant. Performing a multiallelic analysis across OXTR by calculating a cumulative genetic risk score revealed a significant gene-by-environment (G×E interaction, with OXTR genetic risk score interacting with adult separation anxiety to modulate levels of maternal sensitivity. Mothers with higher OXTR genetic risk score and adult separation anxiety showed significantly reduced levels of maternal sensitivity during free play with the infant. The same G×E interaction was also observed for the extended OXTR cumulative genetic risk score that included rs968389. Moreover, the extended cumulative OXTR genetic risk score itself was found to be significantly associated with maternal separation anxiety as it specifically relates to the infant. Our results suggest a complex montage of individual and synergistic genetic mediators of maternal behavior. These findings add to specific knowledge about genetic regulation of maternal oxytocin response in relation to maternal adjustment and infant bonding through the first few months of life.

  14. Genetic Adaptation to Growth Under Laboratory Conditions in Escherichia coli and Salmonella enterica

    Directory of Open Access Journals (Sweden)

    Anna Knöppel

    2018-04-01

    Full Text Available Experimental evolution under controlled laboratory conditions is becoming increasingly important to address various evolutionary questions, including, for example, the dynamics and mechanisms of genetic adaptation to different growth and stress conditions. In such experiments, mutations typically appear that increase the fitness under the conditions tested (medium adaptation, but that are not necessarily of interest for the specific research question. Here, we have identified mutations that appeared during serial passage of E. coli and S. enterica in four different and commonly used laboratory media and measured the relative competitive fitness and maximum growth rate of 111 genetically re-constituted strains, carrying different single and multiple mutations. Little overlap was found between the mutations that were selected in the two species and the different media, implying that adaptation occurs via different genetic pathways. Furthermore, we show that commonly occurring adaptive mutations can generate undesired genetic variation in a population and reduce the accuracy of competition experiments. However, by introducing media adaptation mutations with large effects into the parental strain that was used for the evolution experiment, the variation (standard deviation was decreased 10-fold, and it was possible to measure fitness differences between two competitors as small as |s| < 0.001.

  15. Intergenerational transmission of risk for social inhibition: the interplay between parental responsiveness and genetic influences.

    Science.gov (United States)

    Natsuaki, Misaki N; Leve, Leslie D; Neiderhiser, Jenae M; Shaw, Daniel S; Scaramella, Laura V; Ge, Xiaojia; Reiss, David

    2013-02-01

    To better understand mechanisms underlying the intergenerational transmission of social anxiety, we used a prospective adoption design to examine the roles of genetic influences (inferred from birth mothers' social phobia) and rearing environment (adoptive mothers' and fathers' responsiveness) on the development of socially inhibited, anxious behaviors in children between 18 and 27 months of age. The sample consisted of 275 adoption-linked families, each including an adopted child, adoptive parents, and a birth mother. Results indicated that children whose birth mothers met criteria for the diagnosis of social phobia showed elevated levels of observed behavioral inhibition in a social situation at 27 months of age if their adoptive mothers provided less emotionally and verbally responsive rearing environments at 18 months of age. Conversely, in the context of higher levels of maternal responsiveness, children of birth mothers with a history of social phobia did not show elevated levels of behavioral inhibition. These findings on maternal responsiveness were replicated in a model predicting parent reports of child social anxiety. The findings are discussed in terms of gene-environment interactions in the intergenerational transmission of social anxiety.

  16. Dissection of DNA damage responses using multiconditional genetic interaction maps

    NARCIS (Netherlands)

    Guénolé, Aude

    2013-01-01

    To protect the genome, cells have evolved a diverse set of pathways designed to sense, signal, and repair multiple types of DNA damage. To assess the degree of coordination and crosstalk among these pathways, we systematically mapped changes in the cell's genetic network across a panel of different

  17. Genetic analysis of Myanmar Vigna species in responses to salt ...

    African Journals Online (AJOL)

    user

    2011-02-28

    Feb 28, 2011 ... Genetic parameters for STI values were estimated by using the following formulae (Singh and Chaudhary, 1977);. ;. SDS-PAGE analysis. Protein extraction was performed using upper young leaves from the treated plants. Protein electrophoresis and SDS polyacrylamide gel electrophoresis was performed ...

  18. Response to recurrent selection under small effective population size

    Directory of Open Access Journals (Sweden)

    Souza Jr. Cláudio Lopes de

    2000-01-01

    Full Text Available A formula was derived for the prediction of the response to recurrent selection when the effective population size (Ne is small. Usually, responses to selection have been estimated by Rs = icsigma²A/sigmaPh, where i, c, sigma²A, and sigmaPh stand for standardized selection differential, parental control, additive variance, and phenotypic standard deviation, respectively. This expression, however, was derived under the assumption of infinite population size. By introducing the effects of finite population size, the expression derived was Rs = [ic(sigma²A + deltaFD1/sigmaPh] - DFID, where deltaF, ID and D1 are the changes in the inbreeding coefficient, the inbreeding depression, and the covariance of additive and homozygous dominance effects, respectively. Thus, the predicted responses to selection based on these expressions will be smaller than those based on the standard procedures for traits with a high level of dominance such as yield. Responses to five cycles of half-sib selection were predicted for maize by both expressions, considering that 100 progenies were evaluated and 10 S1 progenies were recombined, which corresponds to Ne = 10 for each cycle. The accumulated response to selection estimated with the new expression was about 47 and 28% smaller than that based on the standard expression for yield and plant height, respectively. Thus, the expression usually used overestimates the responses to selection, which is in agreement with reported results, because it does not take into account the effective population size that is generally small in recurrent selection programs

  19. Hydrodynamic response of viscous fluids under seismic excitation

    International Nuclear Information System (INIS)

    Ma, D.C.

    1993-01-01

    Hydrodynamic response of liquid-tank systems, such as reactor vessels, spent-fuel pools and liquid storage tanks have been studied extensively in the last decade (Chang et al. 1988; Ma et al. 1991). However, most of the studies are conducted with the assumption of an inviscid fluid. In recent years, the hydrodynamic response of viscous fluids has received increasing attention in high level waste storage tanks containing viscous waste material. This paper presents a numerical study on the hydrodynamic response of viscous fluids in a large 2-D fluid-tank system under seismic excitation. Hydrodynamic responses (i.e. sloshing wave height, fluid pressures, shear stress, etc.) are calculated for a fluid with various viscosities. Four fluid viscosities are considered. They are 1 cp, 120 cp, 1,000 cp and 12,000 cp (1 cp = 1.45 x 10 -7 lb-sec/in 2 ). Note that the liquid sodium of the Liquid-Metal Reactor (LMR) reactor has a viscosity of 1.38 x 10 -5 lb-sec/in 2 (about 95 cp) at an operational temperature of 900 degree F. Section 2 describes the pertinent features of the mathematical model. In Section 3, the fundamental sloshing phenomena of viscous fluid are examined. Sloshing wave height and shear stress for fluid with different viscosities are compared. The conclusions are given in Section 4

  20. Phosphorene under strain:electronic, mechanical and piezoelectric responses

    Science.gov (United States)

    Drissi, L. B.; Sadki, S.; Sadki, K.

    2018-01-01

    Structural, electronic, elastic and piezoelectric properties of pure phosphorene under in-plane strain are investigated using first-principles calculations based on density functional theory. The two critical yielding points are determined along armchair and zigzag directions. It is shown that the buckling, the band gap and the charge transfer can be controlled under strains. A semiconductor to metallic transition is observed in metastable region. Polar plots of Young's modulus, Poisson ratio, sound velocities and Debye temperature exhibit evident anisotropic feature of phosphorene and indicate auxetic behavior for some angles θ. Our calculations show also that phosphorene has both in-plane and out-of-plane piezoelectric responses comparable to known 2D materials. The findings of this work reveal the great potential of pure phosphorene in nanomechanical applications.

  1. The tank's dynamic response under nuclear explosion blast wave

    International Nuclear Information System (INIS)

    Xu Mei; Wang Lianghou; Li Xiaotian; Yu Suyuan; Zhang Zhengming; Wan Li

    2005-01-01

    To weapons and equipment, blast wave is the primary destructive factor. In this paper, taken the real model-59 tank as an example, we try to transform the damage estimation problem into computing a fluid structure interaction problem with finite element method. The response of tank under nuclear explosion blast wave is computed with the general-coupling algorithm. Also, the dynamical interaction of blast wave and tank is reflected in real time. The deformation of each part of the tank is worked out and the result corresponds to the real-measured data. (authors)

  2. Wind turbine aerodynamic response under atmospheric icing conditions

    DEFF Research Database (Denmark)

    Etemaddar, M.; Hansen, Martin Otto Laver; Moan, T.

    2014-01-01

    -four hours of icing, with time varying wind speed and atmospheric icing conditions, was simulated on a rotor. Computational fluid dynamics code, FLUENT, was used to estimate the aerodynamic coefficients of the blade after icing. The results were also validated against wind tunnel measurements performed at LM...... Wind Power using a NACA64618 airfoil. The effects of changes in geometry and surface roughness are considered in the simulation. A blade element momentum code WT-Perf is then used to quantify the degradation in performance curves. The dynamic responses of the wind turbine under normal and iced...

  3. Analysis of Network Topologies Underlying Ethylene Growth Response Kinetics.

    Science.gov (United States)

    Prescott, Aaron M; McCollough, Forest W; Eldreth, Bryan L; Binder, Brad M; Abel, Steven M

    2016-01-01

    Most models for ethylene signaling involve a linear pathway. However, measurements of seedling growth kinetics when ethylene is applied and removed have resulted in more complex network models that include coherent feedforward, negative feedback, and positive feedback motifs. The dynamical responses of the proposed networks have not been explored in a quantitative manner. Here, we explore (i) whether any of the proposed models are capable of producing growth-response behaviors consistent with experimental observations and (ii) what mechanistic roles various parts of the network topologies play in ethylene signaling. To address this, we used computational methods to explore two general network topologies: The first contains a coherent feedforward loop that inhibits growth and a negative feedback from growth onto itself (CFF/NFB). In the second, ethylene promotes the cleavage of EIN2, with the product of the cleavage inhibiting growth and promoting the production of EIN2 through a positive feedback loop (PFB). Since few network parameters for ethylene signaling are known in detail, we used an evolutionary algorithm to explore sets of parameters that produce behaviors similar to experimental growth response kinetics of both wildtype and mutant seedlings. We generated a library of parameter sets by independently running the evolutionary algorithm many times. Both network topologies produce behavior consistent with experimental observations, and analysis of the parameter sets allows us to identify important network interactions and parameter constraints. We additionally screened these parameter sets for growth recovery in the presence of sub-saturating ethylene doses, which is an experimentally-observed property that emerges in some of the evolved parameter sets. Finally, we probed simplified networks maintaining key features of the CFF/NFB and PFB topologies. From this, we verified observations drawn from the larger networks about mechanisms underlying ethylene

  4. Analysis of Network Topologies Underlying Ethylene Growth Response Kinetics

    Directory of Open Access Journals (Sweden)

    Aaron M. Prescott

    2016-08-01

    underlying ethylene signaling. Analysis of each network topology results in predictions about changes that occur in network components that can be experimentally tested to give insights into which, if either, network underlies ethylene responses.

  5. Identifying genetic loci affecting antidepressant drug response in depression using drug-gene interaction models

    NARCIS (Netherlands)

    R. Noordam; C.L. Avery; L.E. Visser; B.H.Ch. Stricker (Bruno)

    2016-01-01

    textabstractAntidepressants are often only moderately successful in decreasing the severity of depressive symptoms. In part, antidepressant treatment response in patients with depression is genetically determined. However, although a large number of studies have been conducted aiming to identify

  6. Therapygenetics: Using genetic markers to predict response to psychological treatment for mood and anxiety disorders

    OpenAIRE

    Lester, Kathryn J; Eley, Thalia C

    2013-01-01

    Abstract Considerable variation is evident in response to psychological therapies for mood and anxiety disorders. Genetic factors alongside environmental variables and gene-environment interactions are implicated in the etiology of these disorders and it is plausible that these same factors may also be important in predicting individual differences in response to psychological treatment. In this article, we review the evidence that genetic variation influences psychological treatment outcomes...

  7. Dynamical Response of Networks Under External Perturbations: Exact Results

    Science.gov (United States)

    Chinellato, David D.; Epstein, Irving R.; Braha, Dan; Bar-Yam, Yaneer; de Aguiar, Marcus A. M.

    2015-04-01

    We give exact statistical distributions for the dynamic response of influence networks subjected to external perturbations. We consider networks whose nodes have two internal states labeled 0 and 1. We let nodes be frozen in state 0, in state 1, and the remaining nodes change by adopting the state of a connected node with a fixed probability per time step. The frozen nodes can be interpreted as external perturbations to the subnetwork of free nodes. Analytically extending and to be smaller than 1 enables modeling the case of weak coupling. We solve the dynamical equations exactly for fully connected networks, obtaining the equilibrium distribution, transition probabilities between any two states and the characteristic time to equilibration. Our exact results are excellent approximations for other topologies, including random, regular lattice, scale-free and small world networks, when the numbers of fixed nodes are adjusted to take account of the effect of topology on coupling to the environment. This model can describe a variety of complex systems, from magnetic spins to social networks to population genetics, and was recently applied as a framework for early warning signals for real-world self-organized economic market crises.

  8. Optimization of wear behavior of electroless Ni-P-W coating under dry and lubricated conditions using genetic algorithm (GA

    Directory of Open Access Journals (Sweden)

    Arkadeb Mukhopadhyay

    2016-12-01

    Full Text Available The present study aims to investigate the tribological behavior of Ni-P-W coating under dry and lubricated condition. The coating is deposited onto mild steel (AISI 1040 specimens by the electroless method using a sodium hypophosphite based alkaline bath. Coating characterization is done to investigate the effect of microstructure on its performance. The change in microhardness is observed to be quite significant after annealing the deposits at 400°C for 1h. A pin–on–disc type tribo-tester is used to investigate the tribological behavior of the coating under dry and lubricated conditions. The experimental design formulation is based on Taguchi’s orthogonal array. The design parameters considered are the applied normal load, sliding speed and sliding duration while the response parameter is wear depth. Multiple regression analysis is employed to obtain a quadratic model of the response variables with the main design parameters under considerations. A high value of coefficient of determination of 95.3% and 87.5% of wear depth is obtained under dry and lubricated conditions, respectively which indicate good correlation between experimental results and the multiple regression models. Analysis of variance at a confidence level of 95% shows that the models are statistically significant. Finally, the quadratic equations are used as objective functions to obtain the optimal combination of tribo testing parameters for minimum wear depth using genetic algorithm (GA.

  9. CoaSim: A Flexible Environment for Simulating Genetic Data under Coalescent Models

    DEFF Research Database (Denmark)

    Mailund; Schierup, Mikkel Heide; Pedersen, Christian Nørgaard Storm

    2005-01-01

    Background Coalescent simulations are playing a large role in interpreting large scale intra- polymorphism surveys and for planning and evaluating association studies. Coalescent of data sets under different models can be compared to the actual data to test different evolutionary factors and thus...... get insight into these. Results We have created the CoaSim application as a flexible environment for Monte various types of genetic data under equilibrium and non-equilibrium coalescent variety of applications. Interaction with the tool is through the Guile version scripting language. Scheme scripts...

  10. Assessment of (Fouquieria splendens ssp. breviflora Cell Cultures Response Under to Water Stress

    Directory of Open Access Journals (Sweden)

    Leonor Angélica Guerrero Zúñiga

    2017-05-01

    Full Text Available Plant cell cultures are homogenous experimental systems, highly controllable that allow the study of short and large water stress adaptations without the interference of the different tissues and development of plants. An approach to understand these adaptations is through the presence of induced proteins; as a result of changes in genetic expression. This work analyze the response of Fouquieria splendens ssp. breviflora cell cultures exposed to abscisic acid (ABA, through the electrophoretic characterization of quantity and quality of stress induced proteins. There were recorded low molecular weight polypeptides (< 35kDa, common in experiments under ABA 10mM, followed by the association with 20 and 30mM ABA conditions, with a particularly response of cell cultures without the stress agent.

  11. Observed magnified runoff response to rainfall intensification under global warming

    International Nuclear Information System (INIS)

    Huang, Jr-Chuan; Lee, Tsung-Yu; Lee, Jun-Yi

    2014-01-01

    Runoff response to rainfall intensification under global warming is crucial, but is poorly discussed due to the limited data length and human alteration. Historical rainfall and runoff records in pristine catchments in Taiwan were investigated through trend analysis and cross temperature difference analysis. Trend analysis showed that both rainfall and runoff in the 99.9-percentile have been significantly increasing in terms of frequency and intensity over the past four decades. Cross temperature difference analysis quantified that the rainfall and runoff extremes (including the 99.0–99.9-percentiles) may increase by 69.5% and 99.8%, respectively, under a future scenario of 1  ° C increase in temperature. This increase in intensity resembles the increase in intensity observed between 1971–1990 and 1991–2010. The amplified runoff response can be related to the limited catchment storage capacity being preoccupied by rainfall extremes. The quantified temperature effect on rainfall and runoff intensification can be a strong basis for designing scenarios, confirming and fusing GCMs’ results. In addition, the runoff amplification should be a warning for other regions with significant rainfall intensification. Appropriate strategies are indispensable and urgently needed to maintain and protect the development of societies. (paper)

  12. Dynamic response of multiple nanobeam system under a moving nanoparticle

    Directory of Open Access Journals (Sweden)

    Shahrokh Hosseini Hashemi

    2018-03-01

    Full Text Available In this article, nonlocal continuum based model of multiple nanobeam system (MNBS under a moving nanoparticle is investigated using Eringen’s nonlocal theory. Beam layers are assumed to be coupled by winkler elastic medium and the nonlocal Euler-Bernoulli beam theory is used to model each layer of beam. The Hamilton’s principle, Eigen function technique and the Laplace transform method are employed to solve the governing equations. Analytical solutions of the transverse displacements for MNBs with simply supported boundary condition are presented for double layered and three layered MNBSs. For higher number of layers, the governing set of equations is solved numerically and the results are presented. This study shows that small-scale parameter has a significant effect on dynamic response of MNBS under a moving nanoparticle. Sensitivity of dynamical deflection to variation of nonlocal parameter, stiffness of Winkler elastic medium and number of nanobeams are presented in nondimensional form for each layer. Keywords: Dynamic response, Analytical solution, Moving particle, Nanobeam, Multi-layered nanobeam

  13. Voicing the lifeworld: Parental accounts of responsibility in genetic consultations for polycystic kidney disease

    DEFF Research Database (Denmark)

    Clarke, Angus; Sarangi, Srikant; Verrier-Jones, Kate

    2011-01-01

    When parents, who are carriers of or are affected by a genetic disorder, make decisions about the health risks faced by their children, there may be multiple factors to consider. These may include the medical benefits, the parents’ own experiences of learning about their genetic status, and the f......When parents, who are carriers of or are affected by a genetic disorder, make decisions about the health risks faced by their children, there may be multiple factors to consider. These may include the medical benefits, the parents’ own experiences of learning about their genetic status...... decision making, parents nevertheless account for their actions and decisions in an attempt to display parental responsibility. In this paper we explore the accounting practices of parents in genetic consultations, focusing on how they articulate their responsibility with regard to testing their at...

  14. The joint effects of kin, multilevel selection and indirect genetic effects on response to genetic selection

    NARCIS (Netherlands)

    Bijma, P.; Wade, M.J.

    2008-01-01

    Kin and levels-of-selection models are common approaches for modelling social evolution. Indirect genetic effect (IGE) models represent a different approach, specifying social effects on trait values rather than fitness. We investigate the joint effect of relatedness, multilevel selection and IGEs

  15. Genetic and Computational Approaches for Studying Plant Development and Abiotic Stress Responses Using Image-Based Phenotyping

    Science.gov (United States)

    Campbell, M. T.; Walia, H.; Grondin, A.; Knecht, A.

    2017-12-01

    The development of abiotic stress tolerant crops (i.e. drought, salinity, or heat stress) requires the discovery of DNA sequence variants associated with stress tolerance-related traits. However, many traits underlying adaptation to abiotic stress involve a suite of physiological pathways that may be induced at different times throughout the duration of stress. Conventional single-point phenotyping approaches fail to fully capture these temporal responses, and thus downstream genetic analysis may only identify a subset of the genetic variants that are important for adaptation to sub-optimal environments. Although genomic resources for crops have advanced tremendously, the collection of phenotypic data for morphological and physiological traits is laborious and remains a significant bottleneck in bridging the phenotype-genotype gap. In recent years, the availability of automated, image-based phenotyping platforms has provided researchers with an opportunity to collect morphological and physiological traits non-destructively in a highly controlled environment. Moreover, these platforms allow abiotic stress responses to be recorded throughout the duration of the experiment, and have facilitated the use of function-valued traits for genetic analyses in major crops. We will present our approaches for addressing abiotic stress tolerance in cereals. This talk will focus on novel open-source software to process and extract biological meaningful data from images generated from these phenomics platforms. In addition, we will discuss the statistical approaches to model longitudinal phenotypes and dissect the genetic basis of dynamic responses to these abiotic stresses throughout development.

  16. The effects of stress and sex on selection, genetic covariance, and the evolutionary response.

    Science.gov (United States)

    Holman, L; Jacomb, F

    2017-10-01

    The capacity of a population to adapt to selection (evolvability) depends on whether the structure of genetic variation permits the evolution of fitter trait combinations. Selection, genetic variance and genetic covariance can change under environmental stress, and males and females are not genetically independent, yet the combined effects of stress and dioecy on evolvability are not well understood. Here, we estimate selection, genetic (co)variance and evolvability in both sexes of Tribolium castaneum flour beetles under stressful and benign conditions, using a half-sib breeding design. Although stress uncovered substantial latent heritability, stress also affected genetic covariance, such that evolvability remained low under stress. Sexual selection on males and natural selection on females favoured a similar phenotype, and there was positive intersex genetic covariance. Consequently, sexual selection on males augmented adaptation in females, and intralocus sexual conflict was weak or absent. This study highlights that increased heritability does not necessarily increase evolvability, suggests that selection can deplete genetic variance for multivariate trait combinations with strong effects on fitness, and tests the recent hypothesis that sexual conflict is weaker in stressful or novel environments. © 2017 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2017 European Society For Evolutionary Biology.

  17. Effect of support conditions on structural response under dynamic loading

    International Nuclear Information System (INIS)

    Akram, T.; Memon, S.A.

    2008-01-01

    In design practice, dynamic structural analysis is carried out with base of structure considered as fixed; this means that foundation is placed on rock like soil material. While conducting this type of analyses the role of foundation and soil behaviour is totally neglected. The actions in members and loads transferred at foundation level obtained in this manner do not depict the true structural behaviour. FEM (Finite Element Methods) analysis where both superstructure and foundation soil are coupled together is quite complicated and expensive for design environments. A simplified model is required to depict dynamic response of structures with foundations based on flexible soils. The primary purpose of this research is to compare the superstructure dynamic responses of structural systems with fixed base to that of simple soil model base. The selected simple soil model is to be suitable for use in a design environment to give more realistic results. For this purpose building models are idealized with various heights and structural systems in both 2D (Two Dimensional) and 3D (Three Dimensional) space. These models are then provided with visco-elastic supports representing three soil bearing capacities and the analysis results are compared to that of fixed supports models. The results indicate that fixed support system underestimates natural time period of the structures. Dynamic behavior and force response of visco-elastic support is different from fixed support model. Fixed support models result in over designed base columns and under designed beams. (author)

  18. Dynamical anisotropic response of black phosphorus under magnetic field

    Science.gov (United States)

    Liu, Xuefeng; Lu, Wei; Zhou, Xiaoying; Zhou, Yang; Zhang, Chenglong; Lai, Jiawei; Ge, Shaofeng; Sekhar, M. Chandra; Jia, Shuang; Chang, Kai; Sun, Dong

    2018-04-01

    Black phosphorus (BP) has emerged as a promising material candidate for next generation electronic and optoelectronic devices due to its high mobility, tunable band gap and highly anisotropic properties. In this work, polarization resolved ultrafast mid-infrared transient reflection spectroscopy measurements are performed to study the dynamical anisotropic optical properties of BP under magnetic fields up to 9 T. The relaxation dynamics of photoexcited carrier is found to be insensitive to the applied magnetic field due to the broadening of the Landau levels and large effective mass of carriers. While the anisotropic optical response of BP decreases with increasing magnetic field, its enhancement due to the excitation of hot carriers is similar to that without magnetic field. These experimental results can be well interpreted by the magneto-optical conductivity of the Landau levels of BP thin film, based on an effective k · p Hamiltonian and linear response theory. These findings suggest attractive possibilities of multi-dimensional control of anisotropic response (AR) of BP with light, electric and magnetic field, which further introduces BP to the fantastic magnetic field sensitive applications.

  19. Novel genetic loci underlying human intracranial volume identified through genome-wide association

    Science.gov (United States)

    Adams, Hieab HH; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura ME; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher RK; Cuellar-Partida, Gabriel; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David CM; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Olde Loohuis, Loes M; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein MJ; Van Eijk, Kristel R; Van Erp, Theo GM; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco JC; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald HH; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, WT; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W

    2016-01-01

    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth. PMID:27694991

  20. Determination of the Genetic Architecture Underlying Short Wavelength Sensitivity in Lake Malawi Cichlids.

    Science.gov (United States)

    Nandamuri, Sri Pratima; Dalton, Brian E; Carleton, Karen L

    2017-06-01

    African cichlids are an exemplary system to study organismal diversity and rapid speciation. Species differ in external morphology including jaw shape and body coloration, but also differ in sensory systems including vision. All cichlids have 7 cone opsin genes with species differing broadly in which opsins are expressed. The differential opsin expression results in closely related species with substantial differences in spectral sensitivity of their photoreceptors. In this work, we take a first step in determining the genetic basis of opsin expression in cichlids. Using a second generation cross between 2 species with different opsin expression patterns, we make a conservative estimate that short wavelength opsin expression is regulated by a few loci. Genetic mapping in 96 F2 hybrids provides clear evidence of a cis-regulatory region for SWS1 opsin that explains 34% of the variation in expression between the 2 species. Additionally, in situ hybridization has shown that SWS1 and SWS2B opsins are coexpressed in individual single cones in the retinas of F2 progeny. Results from this work will contribute to a better understanding of the genetic architecture underlying opsin expression. This knowledge will help answer long-standing questions about the evolutionary processes fundamental to opsin expression variation and how this contributes to adaptive cichlid divergence. © The American Genetic Association 2017. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  1. Effect of genetic and coexisting polymorphisms on platelet response ...

    Indian Academy of Sciences (India)

    Abstract. Polymorphisms of CYP2C19 are associated with platelet response to clopidogrel. This study was conducted to evaluate the contribution of the previously identified polymorphisms to the response of clopidogrel in a cohort of Chinese Han patients. A total of 222 acute coronary syndrome patients undergoing ...

  2. Excessive Response-Repetition Costs under Task Switching: How Response Inhibition Amplifies Response Conflict

    Science.gov (United States)

    Grzyb, Kai Robin; Hubner, Ronald

    2013-01-01

    The size of response-repetition (RR) costs, which are usually observed on task-switch trials, strongly varies between conditions with univalent and bivalent stimuli. To test whether top-down or bottom-up processes can account for this effect, we assessed in Experiment 1 baselines for univalent and bivalent stimulus conditions (i.e., for stimuli…

  3. Differential sulphur assimilation mechanism regulates response of Arabidopsis thaliana natural variation towards arsenic stress under limiting sulphur condition.

    Science.gov (United States)

    Khare, Ria; Kumar, Smita; Shukla, Tapsi; Ranjan, Avriti; Trivedi, Prabodh Kumar

    2017-09-05

    Arsenic (As) is a ubiquitous element, which imposes threat to crops productivity and human health through contaminated food chain. As a part of detoxification mechanism, As is chelated and sequestered into the vacuoles via sulphur containing compounds glutathione (GSH) and phytochelatins (PCs). Under limiting sulphur (LS) conditions, exposure of As leads to enhanced toxic effects in plants. Therefore, it is a prerequisite to understand molecular mechanisms involved in As stress response under sulphur deficiency conditions in plants. In recent years, natural variation has been utilized to explore the genetic determinants linked to plant development and stress response. In this study, natural variation in Arabidopsis has been utilized to understand the molecular mechanisms underlying LS and As(III) stress response. Analysis of different accession of Arabidopsis led to the identification of Koz2-2 and Ri-0 as the most tolerant and sensitive accessions, respectively, towards As(III) and LS+As(III) stress. Biochemical analysis and expression profiling of the genes responsible for sulphur transport and assimilation as well as metal detoxification and accumulation revealed significantly enhanced sulphur assimilation mechanism in Koz2-2 as compared to Ri-0. Analyses suggest that genetic variation regulates differential response of accessions towards As(III) under LS condition. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Managing genetic tests, surveillance, and preventive medicine under a public health insurance system.

    Science.gov (United States)

    Filipova-Neumann, Lilia; Hoy, Michael

    2014-03-01

    There is a prospect in the medium to long term future of substantial advancements in the understanding of the relationship between disease and genetics. We consider the implications of increased information from genetic tests about predisposition to diseases from the perspective of managing health care provision under a public health insurance scheme. In particular, we consider how such information may potentially improve the targeting of medical surveillance (or prevention) activities to improve the chances of early detection of disease onset. We show that the moral hazard implications inherent in surveillance and prevention decisions that are chosen to be privately rather than socially optimal may be exacerbated by increased information about person-specific predisposition to disease. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Exploring the genetics underlying autoimmune diseases with network analysis and link prediction

    KAUST Repository

    Alanis Lobato, Gregorio

    2014-02-01

    Ever since the first Genome Wide Association Study (GWAS) was carried out we have seen an important number of discoveries of biological and clinical relevance. However, there are some scientists that consider that these research outcomes and their utility are far from what was expected from this experimental design. We instead believe that the thousands of genetic variants associated with complex disorders by means of GWASs are an extremely valuable source of information that needs to be mined in a different way. Based on this philosophy, we followed a holistic perspective to analyze GWAS data and explored the structural properties of the network representation of one of these datasets with the aim to advance our understanding of the genetic intricacies underlying autoimmune human diseases. The simplicity, computational efficiency and precision of the tools proposed in this paper represent a new means to address GWAS data and contribute to the better exploitation of these rich sources of information. © 2014 IEEE.

  6. Response of cylindrical steel shell under seismic loading

    International Nuclear Information System (INIS)

    Tariq, M.; Amin, K.M.

    2003-01-01

    The seismic response of a cylindrical shell is simulated using the finite element method, and by spectral analysis. For this purpose the fundamental frequency of the cylinder is first calculated and compared with a published result. The mode shapes are also calculated which are later used for spectral analysis. The boundary nodes of the shell are displaced periodically according to a predetermined function of time by employing the acceleration time history of the El Centro earthquake to simulate the seismic loading. However, to conduct spectral analysis, the displacements are first transformed from the time domain to frequency domain using the Fast Fourier transformation. This spectral data is then used to obtain the actual displacement in the first mode under the given seismic loading. The techniques employed here can be used for cylindrical shell structures like rotor of a gas centrifuge, besides other structures that are subjected to seismic loading, besides in other time dependent loading conditions, for example rocket motor vibrations. (author)

  7. Nonlinear mechanical response of supercooled melts under applied forces

    Science.gov (United States)

    Cárdenas, Heliana; Frahsa, Fabian; Fritschi, Sebastian; Nicolas, Alexandre; Papenkort, Simon; Voigtmann, Thomas; Fuchs, Matthias

    2017-08-01

    We review recent progress on a microscopic theoretical approach to describe the nonlinear response of glass-forming colloidal dispersions under strong external forcing leading to homogeneous and inhomogeneous flow. Using mode-coupling theory (MCT), constitutive equations for the rheology of viscoelastic shear-thinning fluids are obtained. These are, in suitably simplified form, employed in continuum fluid dynamics, solved by a hybrid-Lattice Boltzmann (LB) algorithm that was developed to deal with long-lasting memory effects. The combined microscopic theoretical and mesoscopic numerical approach captures a number of phenomena far from equilibrium, including the yielding of metastable states, process-dependent mechanical properties, and inhomogeneous pressure-driven channel flow.

  8. Genetic Parameter Estimates of Carcass Traits under National Scale Breeding Scheme for Beef Cattle

    Directory of Open Access Journals (Sweden)

    ChangHee Do

    2016-08-01

    productivity and carcass quality could be obtained under the national scale breeding scheme of Korea for Hanwoo and that continuous efforts to improve the breeding scheme should be made to increase genetic progress.

  9. Delimiting genetic units in Neotropical toads under incomplete lineage sorting and hybridization

    Directory of Open Access Journals (Sweden)

    Thomé Maria Tereza C

    2012-12-01

    Full Text Available Abstract Background Delimiting genetic units is useful to enhance taxonomic discovery and is often the first step toward understanding evolutionary mechanisms generating diversification. The six species within the Rhinella crucifer group of toads were defined under morphological criteria alone. Previous data suggest limited correspondence of these species to mitochondrial lineages, and morphological intergradation at transitions between forms suggests hybridization. Here we extensively sampled populations throughout the geographic distribution of the group and analyzed mitochondrial and nuclear sequence data to delimit genetic units using tree–based and allele frequency–based approaches. Results These approaches yielded complementary results, with allele frequency-based methods performing unexpectedly well given the limited number of loci examined. Both mitochondrial and nuclear markers supported a genetic structure of five units within the group, with three of the inferred units distributed within its main range, while two other units occur in separate isolates. The inferred units are mostly discordant with currently described forms: unequivocal association exists for only two of the six species in the group. Genetic evidence for hybridization exists for two pairs of units, with clear cyto–nuclear allele mixing observed in one case. Conclusions Our results confirmed that current taxonomy does not represent evolutionary units in the Rhinella crucifer group. Correspondence between genetically distinguishable units and the currently recognized species is only possible for Rhinella henseli and R. inopina. The recognition of other species relies on the reassessment of the geographic range of R. crucifer, the examination of the type series of R. ornata for hybrids, and on the use of additional markers to verify the genetic distinctiveness of R. abei. We state that R. pombali should not remain a valid species since its description appears to be

  10. HAWT dynamic stall response asymmetries under yawed flow conditions

    Energy Technology Data Exchange (ETDEWEB)

    Schreck, S.; Robinson, M.; Hand, M.; Simms, D.

    2000-02-28

    Horizontal axis wind turbines can experience significant time varying aerodynamic loads, potentially causing adverse effects on structures, mechanical components, and power production. As designers attempt lighter and more flexible wind energy machines, greater accuracy and robustness will become even more critical in future aerodynamics models. Aerodynamics modeling advances, in turn, will rely on more thorough comprehension of the three-dimensional, unsteady, vortical flows that dominate wind turbine blade aerodynamics under high load conditions. To experimentally characterize these flows, turbine blade surface pressures were acquired at multiple span locations via the NREL Phase IV Unsteady Aerodynamics Experiment. Surface pressures and associated normal force histories were used to characterize dynamic stall vortex kinematics and normal force amplification. Dynamic stall vortices and normal force amplification were confirmed to occur in response to angle of attack excursions above the static stall threshold. Stall vortices occupied approximately one-half of the blade span and persisted for nearly one-fourth of the blade rotation cycle. Stall vortex convection varied along the blade, resulting in dramatic deformation of the vortex. Presence and deformation of the dynamic stall vortex produced corresponding amplification of normal forces. Analyses revealed consistent alterations to vortex kinematics in response to changes in reduced frequency, span location, and yaw error. Finally, vortex structures and kinematics not previously documented for wind turbine blades were isolated.

  11. STEP Accelerometer Response under Non-Equilibrium Conditions

    Science.gov (United States)

    Wang, S.; Ambekar, P.; Bayart, C.; Torii, R.; Worden, P.; Debra, D.

    The STEP Satellite Test of the Equivalence Principle accelerometer performance is derived under the assumption that the test mass is properly constrained and positioned 5DOF in the housing cavity test mass is in the operational sweet-spot It is extremely useful to check system response when the mass is outside the sweet-spot Using a 1m long fiber suspended test mass we have made past studies on magnetic suspension forces Fy and Fz and have explored the housing cavity in 3DOF x y and z translation limited by uncertainty in test mass tilt angle qy and qz To address this limitation we have recently constructed a 2-axis cryogenic tilt platform The laboratory version of position readout electronics allow us to measure the test mass position at 4K to a precision of 1 nm and tilt angle to less than 1 arc sec in 100 seconds We will present recent experimental data showing the dynamic response of the capacitance measurement subsystem as a function of test mass position

  12. Diverging responses of tropical Andean biomes under future climate conditions.

    Science.gov (United States)

    Tovar, Carolina; Arnillas, Carlos Alberto; Cuesta, Francisco; Buytaert, Wouter

    2013-01-01

    Observations and projections for mountain regions show a strong tendency towards upslope displacement of their biomes under future climate conditions. Because of their climatic and topographic heterogeneity, a more complex response is expected for biodiversity hotspots such as tropical mountain regions. This study analyzes potential changes in the distribution of biomes in the Tropical Andes and identifies target areas for conservation. Biome distribution models were developed using logistic regressions. These models were then coupled to an ensemble of 8 global climate models to project future distribution of the Andean biomes and their uncertainties. We analysed projected changes in extent and elevational range and identified regions most prone to change. Our results show a heterogeneous response to climate change. Although the wetter biomes exhibit an upslope displacement of both the upper and the lower boundaries as expected, most dry biomes tend to show downslope expansion. Despite important losses being projected for several biomes, projections suggest that between 74.8% and 83.1% of the current total Tropical Andes will remain stable, depending on the emission scenario and time horizon. Between 3.3% and 7.6% of the study area is projected to change, mostly towards an increase in vertical structure. For the remaining area (13.1%-17.4%), there is no agreement between model projections. These results challenge the common believe that climate change will lead to an upslope displacement of biome boundaries in mountain regions. Instead, our models project diverging responses, including downslope expansion and large areas projected to remain stable. Lastly, a significant part of the area expected to change is already affected by land use changes, which has important implications for management. This, and the inclusion of a comprehensive uncertainty analysis, will help to inform conservation strategies in the Tropical Andes, and to guide similar assessments for other

  13. HPA AXIS RELATED GENES AND RESPONSE TO PSYCHOLOGICAL THERAPIES: GENETICS AND EPIGENETICS

    NARCIS (Netherlands)

    Roberts, Susanna; Keers, Robert; Lester, Kathryn J.; Coleman, Jonathan R. I.; Breen, Gerome; Arendt, Kristian; Blatter-Meunier, Judith; Cooper, Peter; Creswell, Cathy; Fjermestad, Krister; Havik, Odd E.; Herren, Chantal; Hogendoorn, Sanne M.; Hudson, Jennifer L.; Krause, Karen; Lyneham, Heidi J.; Morris, Talia; Nauta, Maaike; Rapee, Ronald M.; Rey, Yasmin; Schneider, Silvia; Schneider, Sophie C.; Silverman, Wendy K.; Thastum, Mikael; Thirlwall, Kerstin; Waite, Polly; Eley, Thalia C.; Wong, Chloe C. Y.

    2015-01-01

    Hypothalamic-pituitary-adrenal (HPA) axis functioning has been implicated in the development of stress-related psychiatric diagnoses and response to adverse life experiences. This study aimed to investigate the association between genetic and epigenetics in HPA axis and response to cognitive

  14. Mechanisms underlying cellular responses of cells from haemopoietic tissue to low

    Energy Technology Data Exchange (ETDEWEB)

    Kadhim, Munira A

    2012-08-22

    The above studies will provide fundamental mechanistic information relating genetic predisposition to important low dose phenomena, and will aid in the development of Department of Energy policy, as well as radiation risk policy for the public and the workplace. We believe the proposed studies accurately reflect the goals of the DOE low dose program. To accurately define the risks associated with human exposure to relevant environmental doses of low LET ionizing radiation, it is necessary to completely understand the biological effects at very low doses (i.e. less than 0.1 Gy), including the lowest possible dose, that of a single electron track traversal. At such low doses, a range of studies have shown responses in biological systems which are not related to the direct interaction of radiation tracks with DNA. The role of these "non-targeted responses in critical tissues is poorly understood and little is known regarding the underlying mechanisms. Although critical for dosimetry and risk assessment, the role of individual genetic susceptibility in radiation risk is not satisfactorily defined at present. The aim of the proposed grant is to critically evaluate non-targeted effects of ionizing radiation with a focus on the induction of genomic instability (GI) in key stem cell populations from haemopoietic tissue. Using stem cells from two mouse strains (CBA/CaH and C57BL/6J) known to differ in their susceptibility to radiation effects, we plan to carefully dissect the role of genetic predisposition in these models on genomic instability. We will specifically focus on the effects of low doses of low LET radiation, down to the dose of 10mGy (0.01Gy) X-rays. Using conventional X-ray and we will be able to assess the role of genetic variation under various conditions at a range of doses down to the very low dose of 0.01Gy. Irradiations will be carried out using facilities in routine operation for such studies. Mechanistic studies of instability in different cell

  15. Genetic control of plasticity in root morphology and anatomy of rice in response to water deficit

    NARCIS (Netherlands)

    Kadam, Niteen N.; Tamilselvan, Anandhan; Lawas, Lovely M.F.; Quinones, Cherryl; Bahuguna, Rajeev N.; Thomson, Michael J.; Dingkuhn, Michael; Muthurajan, Raveendran; Struik, Paul C.; Yin, Xinyou; Jagadish, Krishna S.V.

    2017-01-01

    Elucidating the genetic control of rooting behavior under water-deficit stress is essential to breed climate-robust rice (Oryza sativa) cultivars. Using a diverse panel of 274 indica genotypes grown under control and water-deficit conditions during vegetative growth, we phenotyped 35 traits, mostly

  16. Differential response of rat strains to obesogenic diets underlines the importance of genetic makeup of an individual towards obesity.

    Science.gov (United States)

    Mn, Muralidhar; Smvk, Prasad; Battula, Kiran Kumar; Nv, Giridharan; Kalashikam, Rajender Rao

    2017-08-22

    Obesity, a multifactorial disorder, results from a chronic imbalance of energy intake vs. expenditure. Apart from excessive consumption of high calorie diet, genetic predisposition also seems to be equally important for the development of obesity. However, the role of genetic predisposition in the etiology of obesity has not been clearly delineated. The present study addresses this problem by selecting three rat strains (WNIN, F-344, SD) with different genetic backgrounds and exposing them to high calorie diets. Rat strains were fed HF, HS, and HFS diets and assessed for physical, metabolic, biochemical, inflammatory responses, and mRNA expression. Under these conditions: significant increase in body weight, visceral adiposity, oxidative stress and systemic pro-inflammatory status; the hallmarks of central obesity were noticed only in WNIN. Further, they developed altered glucose and lipid homeostasis by exhibiting insulin resistance, impaired glucose tolerance, dyslipidemia and fatty liver condition. The present study demonstrates that WNIN is more prone to develop obesity and associated co-morbidities under high calorie environment. It thus underlines the cumulative role of genetics (nature) and diet (nurture) towards the development of obesity, which is critical for understanding this epidemic and devising new strategies to control and manage this modern malady.

  17. Genetic variability of garlic accessions as revealed by agro-morphological traits evaluated under different environments.

    Science.gov (United States)

    Hoogerheide, E S S; Azevedo Filho, J A; Vencovsky, R; Zucchi, M I; Zago, B W; Pinheiro, J B

    2017-05-31

    The cultivated garlic (Allium sativum L.) displays a wide phenotypic diversity, which is derived from natural mutations and phenotypic plasticity, due to dependence on soil type, moisture, latitude, altitude and cultural practices, leading to a large number of cultivars. This study aimed to evaluate the genetic variability shown by 63 garlic accessions belonging to Instituto Agronômico de Campinas and the Escola Superior de Agricultura "Luiz de Queiroz" germplasm collections. We evaluated ten quantitative characters in experimental trials conducted under two localities of the State of São Paulo: Monte Alegre do Sul and Piracicaba, during the agricultural year of 2007, in a randomized blocks design with five replications. The Mahalanobis distance was used to measure genetic dissimilarities. The UPGMA method and Tocher's method were used as clustering procedures. Results indicated significant variation among accessions (P < 0.01) for all evaluated characters, except for the percentage of secondary bulb growth in MAS, indicating the existence of genetic variation for bulb production, and germplasm evaluation considering different environments is more reliable for the characterization of the genotypic variability among garlic accessions, since it diminishes the environmental effects in the clustering of genotypes.

  18. Novel genetic loci underlying human intracranial volume identified through genome-wide association.

    Science.gov (United States)

    Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura M E; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; Braber, Anouk Den; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco J C; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, W T; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schofield, Peter R; Sigurdsson, Sigurdur; Simmons, Andy; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Srikanth, Velandai; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Tiemeier, Henning; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; Van der Lugt, Aad; Van der Wee, Nic J A; Van Duijn, Cornelia M; Van Haren, Neeltje E M; Van T Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Veltman, Dick J; Vernooij, Meike W; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, H Ronald; Zonderman, Alan B; Deary, Ian J; DeCarli, Charles; Schmidt, Helena; Martin, Nicholas G; De Craen, Anton J M; Wright, Margaret J; Launer, Lenore J; Schumann, Gunter; Fornage, Myriam; Franke, Barbara; Debette, Stéphanie; Medland, Sarah E; Ikram, M Arfan; Thompson, Paul M

    2016-12-01

    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρ genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N combined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

  19. Genetic dyslexia risk variant is related to neural connectivity patterns underlying phonological awareness in children.

    Science.gov (United States)

    Skeide, Michael A; Kirsten, Holger; Kraft, Indra; Schaadt, Gesa; Müller, Bent; Neef, Nicole; Brauer, Jens; Wilcke, Arndt; Emmrich, Frank; Boltze, Johannes; Friederici, Angela D

    2015-09-01

    Phonological awareness is the best-validated predictor of reading and spelling skill and therefore highly relevant for developmental dyslexia. Prior imaging genetics studies link several dyslexia risk genes to either brain-functional or brain-structural factors of phonological deficits. However, coherent evidence for genetic associations with both functional and structural neural phenotypes underlying variation in phonological awareness has not yet been provided. Here we demonstrate that rs11100040, a reported modifier of SLC2A3, is related to the functional connectivity of left fronto-temporal phonological processing areas at resting state in a sample of 9- to 12-year-old children. Furthermore, we provide evidence that rs11100040 is related to the fractional anisotropy of the arcuate fasciculus, which forms the structural connection between these areas. This structural connectivity phenotype is associated with phonological awareness, which is in turn associated with the individual retrospective risk scores in an early dyslexia screening as well as to spelling. These results suggest a link between a dyslexia risk genotype and a functional as well as a structural neural phenotype, which is associated with a phonological awareness phenotype. The present study goes beyond previous work by integrating genetic, brain-functional and brain-structural aspects of phonological awareness within a single approach. These combined findings might be another step towards a multimodal biomarker for developmental dyslexia. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

    Science.gov (United States)

    Di Gaetano, Cornelia; Fiorito, Giovanni; Ortu, Maria Francesca; Rosa, Fabio; Guarrera, Simonetta; Pardini, Barbara; Cusi, Daniele; Frau, Francesca; Barlassina, Cristina; Troffa, Chiara; Argiolas, Giuseppe; Zaninello, Roberta; Fresu, Giovanni; Glorioso, Nicola; Piazza, Alberto; Matullo, Giuseppe

    2014-01-01

    The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods--fixation index, inflation factor, principal component analysis and ancestry estimation--we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (F(RoH%0.5)) when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.

  1. Genetic variations in non-specific immune response to ...

    African Journals Online (AJOL)

    Non-specific immune response in three strains of Heterobranchus bidorsalis challenged with the bacterium Aeromonas hydrophilia was evaluated. The study was undertaken in three strains of H. bidorsalis from different ecological zones in Nigeria and the percentage cumulative mortality was lowest and significantly ...

  2. Genetic variation of response to water deficit in parental genotypes ...

    African Journals Online (AJOL)

    dgomi

    Medicago truncatula is an omni-Mediterranean species grown as an annual forage legume. In addition to its small genome size and simple ... It is also an important forage crop species in several countries especially Australia. In recent ...... vernalization on time to flowering is secondary to the photoperiodic response. Annual ...

  3. Genetic dissection of the maize (Zea mays L.) MAMP response

    Science.gov (United States)

    Microbe-associated molecular patterns (MAMPs) are highly conserved molecules commonly found in microbes which can be recognized by plant pattern recognition receptors (PRRs). Recognition triggers a suite of responses including production of reactive oxygen species (ROS) and nitric oxide (NO) and ex...

  4. Role of population genetics in guiding ecological responses to climate.

    Science.gov (United States)

    Rehfeldt, Gerald E; Leites, Laura P; Joyce, Dennis G; Weiskittel, Aaron R

    2018-02-01

    Population responses to climate were assessed using 3-7 years height growth data gathered for 266 populations growing in 12 common gardens established in the 1980s as part of five disparate studies of Pinus contorta var. latifolia. Responses are interpreted according to three concepts: the ecological optimum, the climate where a population is competitively exclusive and in which, therefore, it occurs naturally; the physiological optimum, the climate where a population grows best but is most often competitively excluded; and growth potential, the innate capacity for growth at the physiological optimum. Statistical analyses identified winter cold, measured by the square root of negative degree-days calculated from the daily minimum temperature (MINDD0 1/2 ), as the climatic effect most closely related to population growth potential; the colder the winter inhabited by a population, the lower its growth potential, a relationship presumably molded by natural selection. By splitting the data into groups based on population MINDD0 1/2 and using a function suited to skewed normal distributions, regressions were developed for predicting growth from the distance in climate space (MINDD0 1/2 ) populations had been transferred from their native location to a planting site. The regressions were skewed, showing that the ecological optimum of most populations is colder than the physiological optimum and that the discrepancy between the two increases as the ecological optimum becomes colder. Response to climate change is dependent on innate growth potential and the discrepancy between the two optima and, therefore, is population-specific, developing out of genotype-environment interactions. Response to warming in the short-term can be either positive or negative, but long term responses will be negative for all populations, with the timing of the demise dependent on the amount of skew. The results pertain to physiological modeling, species distribution models, and climate

  5. Thermal equilibrium responses in Guzerat cattle raised under tropical conditions.

    Science.gov (United States)

    Camerro, Leandro Zuccherato; Maia, Alex Sandro Campos; Neto, Marcos Chiquitelli; Costa, Cintia Carol de Melo; Castro, Patric André

    2016-08-01

    The literature is very sparse regarding research on the thermal equilibrium in Guzerat cattle (Bos indicus) under field conditions. Some factors can modify the physiological response of Guzerat cattle, such as the reactivity of these animals to handling. Thus, the development of a methodology to condition and select Guzerat cattle to acclimate them to the routine collection of data without altering their physiological response was the objective of the preliminary experiment. Furthermore, the animals selected were used in the main experiment to determine their thermal equilibrium according to the thermal environment. For this proposal, the metabolic heat production and heat exchange between the animal and the environment were measured simultaneously in the field with an indirect calorimetry system coupled to a facial mask. The results of the preliminary experiment showed that the respiratory rate could demonstrate that conditioning efficiently reduced the reactivity of the animals to experimental handling. Furthermore, the respiratory rate can be used to select animals with less reactivity. The results of the main experiment demonstrate that the skin, hair-coat surface and expired air temperature depend on the air temperature, whereas the rectal temperature depends on the time of day; consequently, the sensible heat flow was substantially reduced from 70 to 20Wm(-2) when the air temperature increased from 24 to 34°C. However, the respiratory latent heat flow increased from 10 to 15Wm(-2) with the same temperature increase. Furthermore, the metabolic heat production remained stable, independent of the variation of the air temperature; however, it was higher in males than in females (by approximately 25%). This fact can be explained by the variation of the ventilation rate, which had a mean value of 1.6 and 2.2Ls(-1) for females and males, respectively. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. The flowering repressor SVP underlies a novel Arabidopsis thaliana QTL interacting with the genetic background.

    Science.gov (United States)

    Méndez-Vigo, Belén; Martínez-Zapater, José M; Alonso-Blanco, Carlos

    2013-01-01

    The timing of flowering initiation is a fundamental trait for the adaptation of annual plants to different environments. Large amounts of intraspecific quantitative variation have been described for it among natural accessions of many species, but the molecular and evolutionary mechanisms underlying this genetic variation are mainly being determined in the model plant Arabidopsis thaliana. To find novel A. thaliana flowering QTL, we developed introgression lines from the Japanese accession Fuk, which was selected based on the substantial transgression observed in an F(2) population with the reference strain Ler. Analysis of an early flowering line carrying a single Fuk introgression identified Flowering Arabidopsis QTL1 (FAQ1). We fine-mapped FAQ1 in an 11 kb genomic region containing the MADS transcription factor gene SHORT VEGETATIVE PHASE (SVP). Complementation of the early flowering phenotype of FAQ1-Fuk with a SVP-Ler transgen demonstrated that FAQ1 is SVP. We further proved by directed mutagenesis and transgenesis that a single amino acid substitution in SVP causes the loss-of-function and early flowering of Fuk allele. Analysis of a worldwide collection of accessions detected FAQ1/SVP-Fuk allele only in Asia, with the highest frequency appearing in Japan, where we could also detect a potential ancestral genotype of FAQ1/SVP-Fuk. In addition, we evaluated allelic and epistatic interactions of SVP natural alleles by analysing more than one hundred transgenic lines carrying Ler or Fuk SVP alleles in five genetic backgrounds. Quantitative analyses of these lines showed that FAQ1/SVP effects vary from large to small depending on the genetic background. These results support that the flowering repressor SVP has been recently selected in A. thaliana as a target for early flowering, and evidence the relevance of genetic interactions for the intraspecific evolution of FAQ1/SVP and flowering time.

  7. The flowering repressor SVP underlies a novel Arabidopsis thaliana QTL interacting with the genetic background.

    Directory of Open Access Journals (Sweden)

    Belén Méndez-Vigo

    Full Text Available The timing of flowering initiation is a fundamental trait for the adaptation of annual plants to different environments. Large amounts of intraspecific quantitative variation have been described for it among natural accessions of many species, but the molecular and evolutionary mechanisms underlying this genetic variation are mainly being determined in the model plant Arabidopsis thaliana. To find novel A. thaliana flowering QTL, we developed introgression lines from the Japanese accession Fuk, which was selected based on the substantial transgression observed in an F(2 population with the reference strain Ler. Analysis of an early flowering line carrying a single Fuk introgression identified Flowering Arabidopsis QTL1 (FAQ1. We fine-mapped FAQ1 in an 11 kb genomic region containing the MADS transcription factor gene SHORT VEGETATIVE PHASE (SVP. Complementation of the early flowering phenotype of FAQ1-Fuk with a SVP-Ler transgen demonstrated that FAQ1 is SVP. We further proved by directed mutagenesis and transgenesis that a single amino acid substitution in SVP causes the loss-of-function and early flowering of Fuk allele. Analysis of a worldwide collection of accessions detected FAQ1/SVP-Fuk allele only in Asia, with the highest frequency appearing in Japan, where we could also detect a potential ancestral genotype of FAQ1/SVP-Fuk. In addition, we evaluated allelic and epistatic interactions of SVP natural alleles by analysing more than one hundred transgenic lines carrying Ler or Fuk SVP alleles in five genetic backgrounds. Quantitative analyses of these lines showed that FAQ1/SVP effects vary from large to small depending on the genetic background. These results support that the flowering repressor SVP has been recently selected in A. thaliana as a target for early flowering, and evidence the relevance of genetic interactions for the intraspecific evolution of FAQ1/SVP and flowering time.

  8. Responsible integration of biological and psychosocial models: comments on "Genetic associations with intimate partner violence in a sample of hazardous drinking men in batterer intervention programs".

    Science.gov (United States)

    Abbey, Antonia

    2014-04-01

    Despite research demonstrating that gene expression differs in response to social environmental circumstances, deterministic views of biology are common. Stuart and colleagues (2014) encourage readers to think about genetic factors in the same dynamic and probabilistic manner that they consider other causes of intimate partner violence. Given that participants had co-occurring alcohol problems, future studies should evaluate how different genetic polymorphisms uniquely and synergistically contribute to heavy drinking and aggression under different socio-environmental conditions. Psychological expectancies have a powerful impact on behavior, thus extreme caution is required before labeling people as genetically predisposed to violence.

  9. Unravelling the genetic components involved in the immune response of pigs vaccinated against influenza virus.

    Science.gov (United States)

    Zanella, Ricardo; Gava, Danielle; Peixoto, Jane de Oliveira; Schaefer, Rejane; Ciacci-Zanella, Janice Reis; Biondo, Natalha; da Silva, Marcos Vinicius Gualberto Barbosa; Cantão, Maurício Egídio; Ledur, Mônica Corrêa

    2015-12-02

    A genome-wide association study for immune response to influenza vaccination in a crossbred swine population was conducted. Swine influenza is caused by influenza A virus (FLUAV) which is considered one of the most prevalent respiratory pathogens in swine worldwide. The main strategy used to control influenza in swine herds is through vaccination. However, the currently circulating FLUAV subtypes in swine are genetically and antigenically diverse and their interaction with the host genetics poses a challenge for the production of efficacious and cross-protective vaccines. In this study, 103 pigs vaccinated with an inactivated H1N1 pandemic virus were genotyped with the Illumina PorcineSNP60V2 BeadChip for the identification of genetic markers associated with immune response efficacy to influenza A virus vaccination. Immune response was measured based on the presence or absence of HA (hemagglutinin) and NP (nucleoprotein) antibodies induced by vaccination and detected in swine sera by the hemagglutination inhibition (HI) and ELISA assays, respectively. The ELISA test was also used as a measurement of antibody levels produced following the FLUAV vaccination. Associations were tested with x(2) test for a case and control data and using maximum likelihood method for the quantitative data, where a moderate association was considered if pimmune response. Using the response to vaccination measured by ELISA as a qualitative and quantitative phenotype, four genomic regions were associated with immune response: one on SSC12 and three on chromosomes SSC1, SSC7, and SSC15, respectively. Those regions harbor important functional candidate genes possibly involved with the degree of immune response to vaccination. These results show an important role of host genetics in the immune response to influenza vaccination. Genetic selection for pigs with better response to FLUAV vaccination might be an alternative to reduce the impact of influenza virus infection in the swine industry

  10. Physiological and genetic responses of bacteria to osmotic stress.

    OpenAIRE

    Csonka, L N

    1989-01-01

    The capacity of organisms to respond to fluctuations in their osmotic environments is an important physiological process that determines their abilities to thrive in a variety of habitats. The primary response of bacteria to exposure to a high osmotic environment is the accumulation of certain solutes, K+, glutamate, trehalose, proline, and glycinebetaine, at concentrations that are proportional to the osmolarity of the medium. The supposed function of these solutes is to maintain the osmolar...

  11. Genetic Predictors of Response to Systemic Therapy in Esophagogastric Cancer.

    Science.gov (United States)

    Janjigian, Yelena Y; Sanchez-Vega, Francisco; Jonsson, Philip; Chatila, Walid K; Hechtman, Jaclyn F; Ku, Geoffrey Y; Riches, Jamie C; Tuvy, Yaelle; Kundra, Ritika; Bouvier, Nancy; Vakiani, Efsevia; Gao, Jianjiong; Heins, Zachary J; Gross, Benjamin E; Kelsen, David P; Zhang, Liying; Strong, Vivian E; Schattner, Mark; Gerdes, Hans; Coit, Daniel G; Bains, Manjit; Stadler, Zsofia K; Rusch, Valerie W; Jones, David R; Molena, Daniela; Shia, Jinru; Robson, Mark E; Capanu, Marinela; Middha, Sumit; Zehir, Ahmet; Hyman, David M; Scaltriti, Maurizio; Ladanyi, Marc; Rosen, Neal; Ilson, David H; Berger, Michael F; Tang, Laura; Taylor, Barry S; Solit, David B; Schultz, Nikolaus

    2018-01-01

    The incidence of esophagogastric cancer is rapidly rising, but only a minority of patients derive durable benefit from current therapies. Chemotherapy as well as anti-HER2 and PD-1 antibodies are standard treatments. To identify predictive biomarkers of drug sensitivity and mechanisms of resistance, we implemented prospective tumor sequencing of patients with metastatic esophagogastric cancer. There was no association between homologous recombination deficiency defects and response to platinum-based chemotherapy. Patients with microsatellite instability-high tumors were intrinsically resistant to chemotherapy but more likely to achieve durable responses to immunotherapy. The single Epstein-Barr virus-positive patient achieved a durable, complete response to immunotherapy. The level of ERBB2 amplification as determined by sequencing was predictive of trastuzumab benefit. Selection for a tumor subclone lacking ERBB2 amplification, deletion of ERBB2 exon 16, and comutations in the receptor tyrosine kinase, RAS, and PI3K pathways were associated with intrinsic and/or acquired trastuzumab resistance. Prospective genomic profiling can identify patients most likely to derive durable benefit to immunotherapy and trastuzumab and guide strategies to overcome drug resistance. Significance: Clinical application of multiplex sequencing can identify biomarkers of treatment response to contemporary systemic therapies in metastatic esophagogastric cancer. This large prospective analysis sheds light on the biological complexity and the dynamic nature of therapeutic resistance in metastatic esophagogastric cancers. Cancer Discov; 8(1); 49-58. ©2017 AACR. See related commentary by Sundar and Tan, p. 14 See related article by Pectasides et al., p. 37 This article is highlighted in the In This Issue feature, p. 1 . ©2017 American Association for Cancer Research.

  12. Evolutionary response of the egg hatching date of a herbivorous insect under climate change

    NARCIS (Netherlands)

    van Asch, Margriet; Salis, Lucia; Holleman, Leonard J. M.; van Lith, Bart; Visser, Marcel E.

    Under changing climatic conditions, species need to adapt to their new environment. Genetic adaptation is crucial to prevent population extinction(1) but examples where climate change leads to genetic changes in wild populations have been few(2,3). The synchronization between the timing of egg

  13. Evolutionary response of the egg hatching date of a herbivorous insect under climate change

    NARCIS (Netherlands)

    Van Asch, M.; Salis, L.; Holleman, L.J.M.; van Lith, B.; Visser, M.E.

    2013-01-01

    Under changing climatic conditions, species need to adapt to their new environment. Genetic adaptation is crucial to prevent population extinction1 but examples where climate change leads to genetic changes in wild populations have been few2, 3. The synchronization between the timing of egg hatching

  14. Sugarcane production under smallholder farming systems: Farmers preferred traits, constraints and genetic resources

    Directory of Open Access Journals (Sweden)

    Esayas Tena

    2016-05-01

    Full Text Available Smallholder sugarcane production sector is under researched and underdeveloped with limited industrial link and support. The objectives of this study were to assess the current state of sugarcane production, farmers’ perceived production constraints and preferred traits, and to collect germplasm grown by smallholder farmers in southern Ethiopia for strategic breeding and conservation. The study was conducted across 16 administrative zones, 28 districts and 56 peasant associations involving 560 smallholder sugarcane growers in southern Ethiopia using a participatory rural appraisal (PRA approach. Sugarcane genetic resources were collected through structured sampling. Findings from this study indicated that monocropping was identified as the predominant sugarcane farming system. Respondent farmers prioritized drought tolerance (21%, increased cane yield (20%, early maturity (18%, marketability (17%, and high biomass (14% as the top preferred traits of sugarcane. Ninety diverse sugarcane landraces were collected from homesteads of smallholder farmers. Findings from this study would serve as baseline information towards sugarcane research and development emphasising the constraints and preferences of smallholder sugarcane growers in Ethiopia or similar agro-ecologies. This is the first study to report farmers preferred traits and constraints, and genetic resources of sugarcane under smallholder farming systems in Ethiopia.

  15. Identifying genetic loci affecting antidepressant drug response in depression using drug–gene interaction models

    Science.gov (United States)

    Noordam, Raymond; Avery, Christy L; Visser, Loes E; Stricker, Bruno H

    2016-01-01

    Antidepressants are often only moderately successful in decreasing the severity of depressive symptoms. In part, antidepressant treatment response in patients with depression is genetically determined. However, although a large number of studies have been conducted aiming to identify genetic variants associated with antidepressant drug response in depression, only a few variants have been repeatedly identified. Within the present review, we will discuss the methodological challenges and limitations of the studies that have been conducted on this topic to date (e.g., ‘treated-only design’, statistical power) and we will discuss how specifically drug–gene interaction models can be used to be better able to identify genetic variants associated with antidepressant drug response in depression. PMID:27248517

  16. Modeling of the response under radiation of electronic dosemeters

    International Nuclear Information System (INIS)

    Menard, S.

    2003-01-01

    The simulation with with calculation codes the interactions and the transport of primary and secondary radiations in the detectors allows to reduce the number of developed prototypes and the number of experiments under radiation. The simulation makes possible the determination of the response of the instrument for exposure configurations more extended that these ones of references radiations produced in laboratories. The M.C.N.P.X. allows to transport, over the photons, electrons and neutrons, the charged particles heavier than the electrons and to simulate the radiation - matter interactions for a certain number of particles. The present paper aims to present the interest of the use of the M.C.N.P.X. code in the study, research and evaluation phases of the instrumentation necessary to the dosimetry monitoring. To do that the presentation gives the results of the modeling of a prototype of a equivalent tissue proportional counter (C.P.E.T.) and of the C.R.A.M.A.L. ( radiation protection apparatus marketed by the Eurisys Mesures society). (N.C.)

  17. Conservation of the piezoelectric response of PVDF films under irradiation

    Science.gov (United States)

    Melilli, G.; Lairez, D.; Gorse, D.; Garcia-Caurel, E.; Peinado, A.; Cavani, O.; Boizot, B.; Clochard, M.-C.

    2018-01-01

    As opposed to piezo-ceramics (i.e PZT), flexibility and robustness characterize piezoelectric polymers. The main advantage of a piezoelectric polymer, such as Poly (vinylidene fluoride) (PVDF), is an electric power generation under large reversible elastic deformation. Starting from polarized PVDF, we have shown that, despite the fact that irradiation is known to structurally modify the PVDF by introducing defects (radicals, chain scission and crosslinks), the electro-active properties were not affected. At doses lower than 100 kGy, a comparison between swift heavy-ion (SHI) and e-beam irradiations is presented. A homemade device was realized to measure the output voltage as a function of the bending deformation for irradiated and non-irradiated PVDF film. DSC and FT-IR techniques give new insights on which crystalline part or structural change contributes to the conservation of the output voltage. Results suggest that despite the material after irradiation is composed of smaller crystallites, the β-phase content remains stable around 36%, which explains the remarkable preservation of the piezoelectric response in irradiated polarized PVDF films.

  18. Dopamine-based reward circuitry responsivity, genetics, and overeating.

    Science.gov (United States)

    Stice, Eric; Yokum, Sonja; Zald, David; Dagher, Alain

    2011-01-01

    Data suggest that low levels of dopamine D2 receptors and attenuated responsivity of dopamine-target regions to food intake is associated with increased eating and elevated weight. There is also growing (although mixed) evidence that genotypes that appear to lead to reduced dopamine signaling (e.g., DRD2, DRD4, and DAT) and certain appetite-related hormones and peptides (e.g., ghrelin, orexin A, leptin) moderate the relation between dopamine signaling, overeating, and obesity. This chapter reviews findings from studies that have investigated the relation between dopamine functioning and food intake and how certain genotypes and appetite-related hormones and peptides affect this relation.

  19. Global genetic response in a cancer cell: self-organized coherent expression dynamics.

    Science.gov (United States)

    Tsuchiya, Masa; Hashimoto, Midori; Takenaka, Yoshiko; Motoike, Ikuko N; Yoshikawa, Kenichi

    2014-01-01

    Understanding the basic mechanism of the spatio-temporal self-control of genome-wide gene expression engaged with the complex epigenetic molecular assembly is one of major challenges in current biological science. In this study, the genome-wide dynamical profile of gene expression was analyzed for MCF-7 breast cancer cells induced by two distinct ErbB receptor ligands: epidermal growth factor (EGF) and heregulin (HRG), which drive cell proliferation and differentiation, respectively. We focused our attention to elucidate how global genetic responses emerge and to decipher what is an underlying principle for dynamic self-control of genome-wide gene expression. The whole mRNA expression was classified into about a hundred groups according to the root mean square fluctuation (rmsf). These expression groups showed characteristic time-dependent correlations, indicating the existence of collective behaviors on the ensemble of genes with respect to mRNA expression and also to temporal changes in expression. All-or-none responses were observed for HRG and EGF (biphasic statistics) at around 10-20 min. The emergence of time-dependent collective behaviors of expression occurred through bifurcation of a coherent expression state (CES). In the ensemble of mRNA expression, the self-organized CESs reveals distinct characteristic expression domains for biphasic statistics, which exhibits notably the presence of criticality in the expression profile as a route for genomic transition. In time-dependent changes in the expression domains, the dynamics of CES reveals that the temporal development of the characteristic domains is characterized as autonomous bistable switch, which exhibits dynamic criticality (the temporal development of criticality) in the genome-wide coherent expression dynamics. It is expected that elucidation of the biophysical origin for such critical behavior sheds light on the underlying mechanism of the control of whole genome.

  20. Morph-specific genetic and environmental variation in innate and acquired immune response in a color polymorphic raptor.

    Science.gov (United States)

    Gangoso, Laura; Roulin, Alexandre; Ducrest, Anne-Lyse; Grande, Juan Manuel; Figuerola, Jordi

    2015-08-01

    Genetic color polymorphism is widespread in nature. There is an increasing interest in understanding the adaptive value of heritable color variation and trade-off resolution by differently colored individuals. Melanin-based pigmentation is often associated with variation in many different life history traits. These associations have recently been suggested to be the outcome of pleiotropic effects of the melanocortin system. Although pharmacological research supports that MC1R, a gene with a major role in vertebrate pigmentation, has important immunomodulatory effects, evidence regarding pleiotropy at MC1R in natural populations is still under debate. We experimentally assessed whether MC1R-based pigmentation covaries with both inflammatory and humoral immune responses in the color polymorphic Eleonora's falcon. By means of a cross-fostering experiment, we disentangled potential genetic effects from environmental effects on the covariation between coloration and immunity. Variation in both immune responses was primarily due to genetic factors via the nestlings' MC1R-related color genotype/phenotype, although environmental effects via the color morph of the foster father also had an influence. Overall, dark nestlings had lower immune responses than pale ones. The effect of the color morph of the foster father was also high, but in the opposite direction, and nestlings raised by dark eumelanic foster fathers had higher immune responses than those raised by pale foster fathers. Although we cannot completely discard alternative explanations, our results suggest that MC1R might influence immunity in this species. Morph-specific variation in immunity as well as pathogen pressure may therefore contribute to the long-term maintenance of genetic color polymorphism in natural populations.

  1. Genetic analysis of the physiological responses to low boron stress in Arabidopsis thaliana.

    Science.gov (United States)

    Zeng, Changying; Han, Yanlai; Shi, Lei; Peng, Lishun; Wang, Yunhua; Xu, Fangsen; Meng, Jinling

    2008-01-01

    Boron (B) is an essential micronutrient for higher plants. There is wide genetic variation in the response to B deficiency among plant species and cultivars. The objective of this study was to identify quantitative trait loci (QTL) that control B efficiency in natural Arabidopsis accessions. The B efficiency coefficient (BEC) and seed yield under low B conditions (SYLB) were investigated by solution culture in two separate experiments in an Arabidopsis recombinant inbred line (RIL) population. Both of the traits studied exhibited high transgressive variation in the RIL population, and, in total, five and three QTL were identified for BEC and SYLB, respectively. Three of the five QTL, including the QTL, AtBE1-2, that has a large effect on the BEC, were found at the interval of the corresponding QTL for SYLB in both experiments. The close genetic relationship between BEC and SYLB was further confirmed by conditional QTL mapping in the RIL population and unconditional QTL mapping in an AtBE1-2-segregated F(2) population. Epistatic interactions for the tested traits were analysed, and were found to be widespread in the detected QTL of Arabidopsis in the RIL population. Comparison of the QTL interval for B efficiency with reported B-related genes showed that 10 B-related genes, together with one BOR1 homolog (BOR5, At1g74810) were located in the QTL region of AtBE1-2. These results suggest that natural variation in B efficiency in Arabidopsis has a complex molecular basis. They also provide a basis for fine mapping and cloning of the B-efficiency genes, with the ultimate aim of discovering the physiological mechanism of action of the genes.

  2. The impact of melanoma genetics on treatment response and resistance in clinical and experimental studies.

    Science.gov (United States)

    Kunz, M; Hölzel, M

    2017-03-01

    Recent attempts to characterize the melanoma mutational landscape using high-throughput sequencing technologies have identified new genes and pathways involved in the molecular pathogenesis of melanoma. Apart from mutated BRAF, NRAS, and KIT, a series of new recurrently mutated candidate genes with impact on signaling pathways have been identified such as NF1, PTEN, IDH1, RAC1, ARID2, and TP53. Under targeted treatment using BRAF and MEK1/2 inhibitors either alone or in combination, a majority of patients experience recurrences, which are due to different genetic mechanisms such as gene amplifications of BRAF or NRAS, MEK1/2 and PI3K mutations. In principle, resistance mechanisms converge on two signaling pathways, MAPK and PI3K-AKT-mTOR pathways. Resistance may be due to small subsets of resistant cells within a heterogeneous tumor mass not identified by sequencing of the bulk tumor. Future sequencing studies addressing tumor heterogeneity, e.g., by using single-cell sequencing technology, will most likely improve this situation. Gene expression patterns of metastatic lesions were also shown to predict treatment response, e.g., a MITF-low/NF-κB-high melanoma phenotype is resistant against classical targeted therapies. Finally, more recent treatment approaches using checkpoint inhibitors directed against PD-1 and CTLA-4 are very effective in melanoma and other tumor entities. Here, the mutational and neoantigen load of melanoma lesions may help to predict treatment response. Taken together, the new sequencing, molecular, and bioinformatic technologies exploiting the melanoma genome for treatment decisions have significantly improved our understanding of melanoma pathogenesis, treatment response, and resistance for either targeted treatment or immune checkpoint blockade.

  3. Rapid genetic divergence in response to 15 years of simulated climate change.

    Science.gov (United States)

    Ravenscroft, Catherine H; Whitlock, Raj; Fridley, Jason D

    2015-11-01

    Genetic diversity may play an important role in allowing individual species to resist climate change, by permitting evolutionary responses. Our understanding of the potential for such responses to climate change remains limited, and very few experimental tests have been carried out within intact ecosystems. Here, we use amplified fragment length polymorphism (AFLP) data to assess genetic divergence and test for signatures of evolutionary change driven by long-term simulated climate change applied to natural grassland at Buxton Climate Change Impacts Laboratory (BCCIL). Experimental climate treatments were applied to grassland plots for 15 years using a replicated and spatially blocked design and included warming, drought and precipitation treatments. We detected significant genetic differentiation between climate change treatments and control plots in two coexisting perennial plant study species (Festuca ovina and Plantago lanceolata). Outlier analyses revealed a consistent signature of selection associated with experimental climate treatments at individual AFLP loci in P. lanceolata, but not in F. ovina. Average background differentiation at putatively neutral AFLP loci was close to zero, and genomewide genetic structure was associated neither with species abundance changes (demography) nor with plant community-level responses to long-term climate treatments. Our results demonstrate genetic divergence in response to a suite of climatic environments in reproductively mature populations of two perennial plant species and are consistent with an evolutionary response to climatic selection in P. lanceolata. These genetic changes have occurred in parallel with impacts on plant community structure and may have contributed to the persistence of individual species through 15 years of simulated climate change at BCCIL. © 2015 The Authors. Global Change Biology Bioenergy Published by John Wiley & Sons Ltd.

  4. Psychophysiology of threat response, paradigm shifts in psychiatry, and RDoC: Implications for genetic investigation of psychopathology.

    Science.gov (United States)

    Hettema, John M

    2016-03-01

    Two articles in this issue seek to further the goal of NIMH's Research Domain Criteria (RDoC) initiative to develop new approaches for investigating mental disorders, using fundamental dimensions that cut across traditional disorder categories and align more closely with mechanisms that underlie psychopathology. One article, by Lang, McTeague, and Bradley, describes the construction of such a disorder cross-crossing dimension of fear response. The other, by Kozak and Cuthbert, expounds upon the basis and conceptualization of research targets under RDoC. Possible implications of these developments for psychiatric genetics research are discussed. © 2016 Society for Psychophysiological Research.

  5. Effects of Behavioral Genetic Evidence on Perceptions of Criminal Responsibility and Appropriate Punishment

    Science.gov (United States)

    Appelbaum, Paul S.; Scurich, Nicholas; Raad, Raymond

    2015-01-01

    Demonstrations of a link between genetic variants and criminal behavior have stimulated increasing use of genetic evidence to reduce perceptions of defendants’ responsibility for criminal behavior and to mitigate punishment. However, because only limited data exist regarding the impact of such evidence on decision makers and the public at large, we recruited a representative sample of the U.S. adult population (n=960) for a web-based survey. Participants were presented with descriptions of three legal cases and were asked to: determine the length of incarceration for a convicted murderer; adjudicate an insanity defense; and decide whether a defendant should receive the death penalty. A fully crossed, between-participants, factorial design was used, varying the type of evidence (none, genetic, neuroimaging, both), heinousness of the crime, and past criminal record, with sentence or verdict as the primary outcome. Also assessed were participants’ apprehension of the defendant, belief in free will, political ideology, and genetic knowledge. Across all three cases, genetic evidence had no significant effects on outcomes. Neuroimaging data showed an inconsistent effect in one of the two cases in which it was introduced. In contrast, heinousness of the offense and past criminal record were strongly related to participants’ decisions. Moreover, participants’ beliefs about the controllability of criminal behavior and political orientations were significantly associated with their choices. Our findings suggest that neither hopes that genetic evidence will modify judgments of culpability and punishment nor fears about the impact of genetic evidence on decision makers are likely to come to fruition. PMID:26240516

  6. Genetic responses induced in olive roots upon colonization by the biocontrol endophytic bacterium Pseudomonas fluorescens PICF7.

    Directory of Open Access Journals (Sweden)

    Elisabetta Schilirò

    Full Text Available Knowledge on the genetic basis underlying interactions between beneficial bacteria and woody plants is still very limited, and totally absent in the case of olive. We aimed to elucidate genetic responses taking place during the colonization of olive roots by the native endophyte Pseudomonas fluorescens PICF7, an effective biocontrol agent against Verticillium wilt of olive. Roots of olive plants grown under non-gnotobiotic conditions were collected at different time points after PICF7 inoculation. A Suppression Subtractive Hybridization cDNA library enriched in induced genes was generated. Quantitative real time PCR (qRT-PCR analysis validated the induction of selected olive genes. Computational analysis of 445 olive ESTs showed that plant defence and response to different stresses represented nearly 45% of genes induced in PICF7-colonized olive roots. Moreover, quantitative real-time PCR (qRT-PCR analysis confirmed induction of lipoxygenase, phenylpropanoid, terpenoids and plant hormones biosynthesis transcripts. Different classes of transcription factors (i.e., bHLH, WRKYs, GRAS1 were also induced. This work highlights for the first time the ability of an endophytic Pseudomonas spp. strain to mount a wide array of defence responses in an economically-relevant woody crop such as olive, helping to explain its biocontrol activity.

  7. 40 CFR 85.1907 - Responsibility under other legal provisions preserved.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 18 2010-07-01 2010-07-01 false Responsibility under other legal... Requirements § 85.1907 Responsibility under other legal provisions preserved. The filing of any report under the provisions of this subpart shall not affect a manufacturer's responsibility to file reports or...

  8. 40 CFR 90.806 - Responsibility under other legal provisions preserved.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 20 2010-07-01 2010-07-01 false Responsibility under other legal... § 90.806 Responsibility under other legal provisions preserved. The filing of any report under the provisions of this subpart does not affect a manufacturer's responsibility to file reports or applications...

  9. Integrating environmental and genetic effects to predict responses of tree populations to climate.

    Science.gov (United States)

    Wang, Tongli; O'Neill, Gregory A; Aitken, Sally N

    2010-01-01

    Climate is a major environmental factor affecting the phenotype of trees and is also a critical agent of natural selection that has molded among-population genetic variation. Population response functions describe the environmental effect of planting site climates on the performance of a single population, whereas transfer functions describe among-population genetic variation molded by natural selection for climate. Although these approaches are widely used to predict the responses of trees to climate change, both have limitations. We present a novel approach that integrates both genetic and environmental effects into a single "universal response function" (URF) to better predict the influence of climate on phenotypes. Using a large lodgepole pine (Pinus contorta Dougl. ex Loud.) field transplant experiment composed of 140 populations planted on 62 sites to demonstrate the methodology, we show that the URF makes full use of data from provenance trials to: (1) improve predictions of climate change impacts on phenotypes; (2) reduce the size and cost of future provenance trials without compromising predictive power; (3) more fully exploit existing, less comprehensive provenance tests; (4) quantify and compare environmental and genetic effects of climate on population performance; and (5) predict the performance of any population growing in any climate. Finally, we discuss how the last attribute allows the URF to be used as a mechanistic model to predict population and species ranges for the future and to guide assisted migration of seed for reforestation, restoration, or afforestation and genetic conservation in a changing climate.

  10. Genetic variation in the endocannabinoid system and response to Cognitive Behavior Therapy for child anxiety disorders.

    Science.gov (United States)

    Lester, Kathryn J; Coleman, Jonathan R I; Roberts, Susanna; Keers, Robert; Breen, Gerome; Bögels, Susan; Creswell, Cathy; Hudson, Jennifer L; McKinnon, Anna; Nauta, Maaike; Rapee, Ronald M; Schneider, Silvia; Silverman, Wendy K; Thastum, Mikael; Waite, Polly; Wergeland, Gro Janne H; Eley, Thalia C

    2017-03-01

    Extinction learning is an important mechanism in the successful psychological treatment of anxiety. Individual differences in response and relapse following Cognitive Behavior Therapy may in part be explained by variability in the ease with which fears are extinguished or the vulnerability of these fears to re-emerge. Given the role of the endocannabinoid system in fear extinction, this study investigates whether genetic variation in the endocannabinoid system explains individual differences in response to CBT. Children (N = 1,309) with a primary anxiety disorder diagnosis were recruited. We investigated the relationship between variation in the CNR1, CNR2, and FAAH genes and change in primary anxiety disorder severity between pre- and post-treatment and during the follow-up period in the full sample and a subset with fear-based anxiety disorder diagnoses. Change in symptom severity during active treatment was nominally associated (P endocannabinoid system genes and treatment response once multiple testing corrections were applied. Larger, more homogenous cohorts are needed to allow the identification of variants of small but statistically significant effect and to estimate effect sizes for these variants with greater precision in order to determine their potential clinical utility. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

  11. Role of genetics in adapting forests under climate change: lessons learned from common garden experiments in central Europe

    Science.gov (United States)

    Chakraborty, Debojyoti; Schueler, Silvio

    2017-04-01

    Adaptive management aiming at reducing vulnerability and enhancing the resilience of forested ecosystems is a key to preserving the potential of forests to provide multiple ecosystem services under climate change. Planting alternative or non native tree species adapted to future conditions and also utilizing the genetic variation within tree species has also been suggested as an important adaptive management strategy under climate change. Therefore, knowledge on suitable provenances/populations is a key issue. Provenance trial experiments, where several populations of a species are planted in a particular climate or throughout an appropriate climatic gradient offers a great opportunity to understand adaptive genetic variation within a tree species. These trials were primarily established, for identifying populations with desired growth and fitness characteristics. Due to the increasing interest in climate change, such trials were revisited to understand the relation between growth performance and climate and to recommend suitable populations for future conditions. Here we present the lessons learned from provenance trials of Norway spruce and Douglas -fir in central Europe. With data from provenance trials planted across a wide range of environmental conditions in central Europe we developed multivariate models, Universal Response Functions (URFs). The URFs predict growth performance as a function of climate of planting locations (i.e. environmental factors) and provenance/ population origin (i.e. genetic factors). The flexibility of the URFs as a decision making tool is remarkable. The model can be used as to identify suitable planting material for a give site, and vice versa and also as a species distribution model (SDM) with integrated genetic variation. Under current and climate change scenarios, the URFs were applied to predict populations with higher growth performance in central Europe and also as species distribution models for Douglas-fir (Pseudotsuga

  12. Cognitive and Ocular Factors Jointly Determine Pupil Responses under Equiluminance.

    Directory of Open Access Journals (Sweden)

    Tomas Knapen

    Full Text Available Changes in pupil diameter can reflect high-level cognitive signals that depend on central neuromodulatory mechanisms. However, brain mechanisms that adjust pupil size are also exquisitely sensitive to changes in luminance and other events that would be considered a nuisance in cognitive experiments recording pupil size. We implemented a simple auditory experiment involving no changes in visual stimulation. Using finite impulse-response fitting we found pupil responses triggered by different types of events. Among these are pupil responses to auditory events and associated surprise: cognitive effects. However, these cognitive responses were overshadowed by pupil responses associated with blinks and eye movements, both inevitable nuisance factors that lead to changes in effective luminance. Of note, these latter pupil responses were not recording artifacts caused by blinks and eye movements, but endogenous pupil responses that occurred in the wake of these events. Furthermore, we identified slow (tonic changes in pupil size that differentially influenced faster (phasic pupil responses. Fitting all pupil responses using gamma functions, we provide accurate characterisations of cognitive and non-cognitive response shapes, and quantify each response's dependence on tonic pupil size. These results allow us to create a set of recommendations for pupil size analysis in cognitive neuroscience, which we have implemented in freely available software.

  13. Genetic background influences age-related decline in visual and nonvisual retinal responses, circadian rhythms, and sleep.

    Science.gov (United States)

    Banks, Gareth; Heise, Ines; Starbuck, Becky; Osborne, Tamzin; Wisby, Laura; Potter, Paul; Jackson, Ian J; Foster, Russell G; Peirson, Stuart N; Nolan, Patrick M

    2015-01-01

    The circadian system is entrained to the environmental light/dark cycle via retinal photoreceptors and regulates numerous aspects of physiology and behavior, including sleep. These processes are all key factors in healthy aging showing a gradual decline with age. Despite their importance, the exact mechanisms underlying this decline are yet to be fully understood. One of the most effective tools we have to understand the genetic factors underlying these processes are genetically inbred mouse strains. The most commonly used reference mouse strain is C57BL/6J, but recently, resources such as the International Knockout Mouse Consortium have started producing large numbers of mouse mutant lines on a pure genetic background, C57BL/6N. Considering the substantial genetic diversity between mouse strains we expect there to be phenotypic differences, including differential effects of aging, in these and other strains. Such differences need to be characterized not only to establish how different mouse strains may model the aging process but also to understand how genetic background might modify age-related phenotypes. To ascertain the effects of aging on sleep/wake behavior, circadian rhythms, and light input and whether these effects are mouse strain-dependent, we have screened C57BL/6J, C57BL/6N, C3H-HeH, and C3H-Pde6b+ mouse strains at 5 ages throughout their life span. Our data show that sleep, circadian, and light input parameters are all disrupted by the aging process. Moreover, we have cataloged a number of strain-specific aging effects, including the rate of cataract development, decline in the pupillary light response, and changes in sleep fragmentation and the proportion of time spent asleep. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  14. Association mapping of loci controlling genetic and environmental interaction of soybean flowering time under various photo-thermal conditions.

    Science.gov (United States)

    Mao, Tingting; Li, Jinyu; Wen, Zixiang; Wu, Tingting; Wu, Cunxiang; Sun, Shi; Jiang, Bingjun; Hou, Wensheng; Li, Wenbin; Song, Qijian; Wang, Dechun; Han, Tianfu

    2017-05-26

    Soybean (Glycine max (L.) Merr.) is a short day plant. Its flowering and maturity time are controlled by genetic and environmental factors, as well the interaction between the two factors. Previous studies have shown that both genetic and environmental factors, mainly photoperiod and temperature, control flowering time of soybean. Additionally, these studies have reported gene × gene and gene × environment interactions on flowering time. However, the effects of quantitative trait loci (QTL) in response to photoperiod and temperature have not been well evaluated. The objectives of the current study were to identify the effects of loci associated with flowering time under different photo-thermal conditions and to understand the effects of interaction between loci and environment on soybean flowering. Different photoperiod and temperature combinations were obtained by adjusting sowing dates (spring sowing and summer sowing) or day-length (12 h, 16 h). Association mapping was performed on 91 soybean cultivars from different maturity groups (MG000-VIII) using 172 SSR markers and 5107 SNPs from the Illumina SoySNP6K iSelectBeadChip. The effects of the interaction between QTL and environments on flowering time were also analysed using the QTXNetwork. Large-effect loci were detected on Gm 11, Gm 16 and Gm 20 as in previous reports. Most loci associated with flowering time are sensitive to photo-thermal conditions. Number of loci associated with flowering time was more under the long day (LD) than under the short day (SD) condition. The variation of flowering time among the soybean cultivars mostly resulted from the epistasis × environment and additive × environment interactions. Among the three candidate loci, i.e. Gm04_4497001 (near GmCOL3a), Gm16_30766209 (near GmFT2a and GmFT2b) and Gm19_47514601 (E3 or GmPhyA3), the Gm04_4497001 may be the key locus interacting with other loci for controlling soybean flowering time. The effects of loci associated

  15. The Adaptive Response, Genetic Haplo-Insufficiency and Genomic Instability

    Energy Technology Data Exchange (ETDEWEB)

    Geard, Charles R. [Columbia Univ., New York, NY (United States). Center for Radiological Research

    2014-12-12

    The linear no-threshold (LNT) hypothesis is the driving force in the establishment of radiation protection standards. However, the scientific basis for linearity has been brought into question, particularly due to the concerns about induced radiation resistance as it pertains to oxidative stress. Specifically, we investigated the observation that tumor hypoxia is associated with malignant progression, increased metastases, chemo- and radioresistance and poor prognosis. Experiments were conducted with non-malignant 3T3/NIH cells and normal human lung fibroblasts (NHLF) that were subjected to γ-irradiation under the levels of oxygen resembling those in growing tumors, and related our data to the concentrations of dissolved oxygen (DO), which is a better indicator of the amounts of residual oxygen inside the cells cultured in the hypoxic or anoxic atmosphere. We found that at DO levels about 0.5 mg/L cells subjected to both short-term (17 hours) and prolonged (48-72 hours) hypoxia continued to proliferate, and that apoptotic events were decreased at the early hours of hypoxic treatment. We showed that the short-term hypoxia up-regulated p53-binding protein 1 (53BP1) and resulted in facilitated 53BP1 nuclear foci formation and disappearance, thus indicating the higher efficiency of DNA double strand breaks repair processes. The latter was confirmed by the lower micronuclei incidence in irradiated hypoxic cells.

  16. Rapid genetic restoration of a keystone species exhibiting delayed demographic response.

    Science.gov (United States)

    Cosentino, Bradley J; Schooley, Robert L; Bestelmeyer, Brandon T; McCarthy, Alison J; Sierzega, Kevin

    2015-12-01

    Genetic founder effects are often expected when animals colonize restored habitat in fragmented landscapes, but empirical data on genetic responses to restoration are limited. We examined the genetic response of banner-tailed kangaroo rats (Dipodomys spectabilis) to landscape-scale grassland restoration in the Chihuahuan Desert of New Mexico, USA. Dipodomys spectabilis is a grassland specialist and keystone species. At sites treated with herbicide to remove shrubs, colonization by D. spectabilis is slow and populations persist at low density for ≥10 years (≥6 generations). Persistence at low density and low gene flow may cause strong founder effects. We compared genetic structure of D. spectabilis populations between treated sites and remnant grasslands, and we examined how the genetic response to restoration depended on treatment age, area, and connectivity to source populations. Allelic richness and heterozygosity were similar between treated sites and remnant grasslands. Allelic richness at treated sites was greatest early in the restoration trajectory, and genetic divergence did not differ between recently colonized and established populations. These results indicated that founder effects during colonization of treated sites were weak or absent. Moreover, our results suggested founder effects were not mitigated by treatment area or connectivity. Dispersal is negatively density-dependent in D. spectabilis, and we hypothesize that high gene flow may occur early in the restoration trajectory when density is low. Our study shows genetic diversity can be recovered more rapidly than demographic components of populations after habitat restoration and that founder effects are not inevitable for animals colonizing restored habitat in fragmented landscapes. © 2015 John Wiley & Sons Ltd.

  17. A genetic-algorithm-aided stochastic optimization model for regional air quality management under uncertainty.

    Science.gov (United States)

    Qin, Xiaosheng; Huang, Guohe; Liu, Lei

    2010-01-01

    A genetic-algorithm-aided stochastic optimization (GASO) model was developed in this study for supporting regional air quality management under uncertainty. The model incorporated genetic algorithm (GA) and Monte Carlo simulation techniques into a general stochastic chance-constrained programming (CCP) framework and allowed uncertainties in simulation and optimization model parameters to be considered explicitly in the design of least-cost strategies. GA was used to seek the optimal solution of the management model by progressively evaluating the performances of individual solutions. Monte Carlo simulation was used to check the feasibility of each solution. A management problem in terms of regional air pollution control was studied to demonstrate the applicability of the proposed method. Results of the case study indicated the proposed model could effectively communicate uncertainties into the optimization process and generate solutions that contained a spectrum of potential air pollutant treatment options with risk and cost information. Decision alternatives could be obtained by analyzing tradeoffs between the overall pollutant treatment cost and the system-failure risk due to inherent uncertainties.

  18. Effects of trawl selectivity and genetic parameters on fish body length under long-term trawling

    Science.gov (United States)

    Yu, Yang; Sun, Peng; Cui, He; Sheng, Huaxiang; Zhao, Fenfang; Tang, Yanli; Chen, Zelin

    2015-10-01

    Long-term fishing pressure affects the biological characteristics of exploited fish stocks. The biological characteristics of hairtail ( Trichiurus lepturus) in the East China Sea are unable to recover because of long-term trawling. Fishing induces evolutionary effects on the fish's biological characteristics. Evidence of these changes includes small size at age, a shift to earlier age structure, and early maturation. Natural and artificial selection usually affect the fish's life history. Selection can induce different chances of reproduction, and individual fish can give a different genetic contribution to the next generation. In this study, analysis of time-dependent probability of significance and test of sensitivity were used to explore the effects of fish exploitation rate, mesh size, and heritability with long-term trawling. Results showed that fishing parameters were important drivers to exploited fish population. However, genetic traits altered by fishing were slow, and the changes in biological characteristics were weaker than those caused by fishing selection. Exploitation rate and mesh size exhibited similar evolutionary trend tendency under long-term fishing. The time-dependent probability of significance trend showed a gradual growth and tended to be stable. Therefore, the direction of fishing-induced evolution and successful management of fish species require considerable attention to contribute to sustainable fisheries in China.

  19. Psychological factors associated with emotional responses to receiving genetic risk information.

    Science.gov (United States)

    Bennett, Paul; Wilkinson, Clare; Turner, Jim; Brain, Kate; Edwards, Rhiannon Tudor; Griffith, Gethin; France, Barbara; Gray, Jonathon

    2008-06-01

    This study identified levels of distress, and predictors of levels of distress, in women undergoing assessment for genetic risk of breast/ovarian cancer based on their family history. It comprised a cohort study following 154 women who completed questionnaires at entry into a cancer genetic assessment programme and following risk provision. Independent significant associates of anxiety following risk provision were age, neuroticism, feeling hopeless about developing cancer, a perceived lack of control over developing cancer, lack of a social confidant, and a coping response involving acceptance/resignation. Depression was associated with age, neuroticism, feeling hopeless about developing cancer, lack of social confidant, and a coping response involving acceptance/resignation. To avoid high levels of psychological morbidity in future cohorts undergoing cancer genetic risk assessment, information should be given that emphasises that some degree of control over health outcomes through behaviour change or increased surveillance is possible.

  20. Engineering Values Into Genetic Engineering: A Proposed Analytic Framework for Scientific Social Responsibility.

    Science.gov (United States)

    Sankar, Pamela L; Cho, Mildred K

    2015-01-01

    Recent experiments have been used to "edit" genomes of various plant, animal and other species, including humans, with unprecedented precision. Furthermore, editing the Cas9 endonuclease gene with a gene encoding the desired guide RNA into an organism, adjacent to an altered gene, could create a "gene drive" that could spread a trait through an entire population of organisms. These experiments represent advances along a spectrum of technological abilities that genetic engineers have been working on since the advent of recombinant DNA techniques. The scientific and bioethics communities have built substantial literatures about the ethical and policy implications of genetic engineering, especially in the age of bioterrorism. However, recent CRISPr/Cas experiments have triggered a rehashing of previous policy discussions, suggesting that the scientific community requires guidance on how to think about social responsibility. We propose a framework to enable analysis of social responsibility, using two examples of genetic engineering experiments.

  1. Association of baseline vitamin D level with genetic determinants and virologic response in patients with chronic hepatitis B.

    Science.gov (United States)

    Yu, Rui; Tan, Deming; Ning, Qin; Niu, Junqi; Bai, Xuefan; Chen, Shijun; Cheng, Jun; Yu, Yanyan; Wang, Hao; Xu, Min; Shi, Guangfeng; Wan, Mobin; Chen, Xinyue; Tang, Hong; Sheng, Jifang; Dou, Xiaoguang; Shi, Junping; Ren, Hong; Wang, Maorong; Zhang, Hongfei; Gao, Zhiliang; Chen, Chengwei; Ma, Hong; Jia, Jidong; Hou, Jinlin; Xie, Qing; Sun, Jian

    2018-02-01

    The role of vitamin D in individuals with chronic hepatitis B (CHB) is unclear. We aimed to explore the association of baseline vitamin D level with genetic determinants and week-104 treatment outcome in CHB patients. Baseline serum 25-hydroxycholecalciferol (25(OH)D) levels and genetic polymorphism within GC, DHCR7, and CYP2R1 were determined in stored serum of 560 patients who were enrolled into a multicenter, randomized, controlled study and completed 104 weeks of telbivudine monotherapy or telbivudine-based optimized therapy. Virologic response was defined as hepatitis B virus DNA <300 copies/mL (52 IU/mL) at week 104. The mean 25(OH)D value was 29.64 ng/mL. The percentage of patients with vitamin D insufficiency (<30 ng/mL) and vitamin D deficiency (<20 ng/mL) were 55.0% and 20.9%, respectively. Gender, season, latitude, and GC rs2282679 polymorphism were independent factors of vitamin D status. Patients with sufficient vitamin D (≥30 ng/mL) achieved a higher virologic response rate than those with vitamin D insufficiency (81.7% vs. 67.2%, P < 0.001). The area under the curve of 25(OH)D to predict virologic response was 0.65 (P < 0.001; 95% confidence interval, 0.62-0.67). On multivariate analysis, 25(OH)D level was an independent predictor of virologic response, but not associated with hepatitis B envelope antigen (HBeAg) seroconversion or alanine aminotransferase (ALT) normalization. Vitamin D insufficiency was highly prevalent in treatment-naïve CHB patients in mainland China. Latitude and genetic determinants affect vitamin D status. Baseline vitamin D level can predict week-104 virologic response, but not HBeAg seroconversion or ALT normalization. © 2017 The Japan Society of Hepatology.

  2. Genetic evidence for the association between the early growth response 3 (EGR3 gene and schizophrenia.

    Directory of Open Access Journals (Sweden)

    Rui Zhang

    Full Text Available Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3 gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3 showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016 and allele frequency distribution (P = 0.009. Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012; a significant difference was found for the common haplotype AG (P = 0.0005. Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001. In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.

  3. Genetic Algorithm for Multiuser Discrete Network Design Problem under Demand Uncertainty

    Directory of Open Access Journals (Sweden)

    Wu Juan

    2012-01-01

    Full Text Available Discrete network design is an important part of urban transportation planning. The purpose of this paper is to present a bilevel model for discrete network design. The upper-level model aims to minimize the total travel time under a stochastic demand to design a discrete network. In the lower-level model, demands are assigned to the network through a multiuser traffic equilibrium assignment. Generally, discrete network could affect path selections of demands, while the results of the multiuser traffic equilibrium assignment need to reconstruct a new discrete network. An iterative approach including an improved genetic algorithm and Frank-Wolfe algorithm is used to solve the bi-level model. The numerical results on Nguyen Dupuis network show that the model and the related algorithms were effective for discrete network design.

  4. Genetic architecture of factors underlying partial resistance to Alternaria leaf blight in carrot.

    Science.gov (United States)

    Le Clerc, Valérie; Pawelec, Anna; Birolleau-Touchard, Christelle; Suel, Anita; Briard, Mathilde

    2009-05-01

    In most production areas, Alternaria leaf blight (ALB) is recognized as the most common and destructive foliage disease in carrot. To assess the genetic architecture of carrot ALB resistance, two parental coupling maps were developed with similar number of dominant markers (around 70), sizes (around 650 cM), densities (around 9.5 cM), and marker composition. The F(2:3) progenies were evaluated in field and tunnel for two scoring dates. The continuous distribution of the disease severity value indicated that ALB resistance is under polygenic control. Three QTLs regions were found on three linkage groups. Two of them were tunnel or field specific and were detected only at the second screening date suggesting that the expression of these two QTLs regions involved in resistance to Alternaria dauci might depend on environment and delay after infection.

  5. Genetic disruption of CD8+ Treg activity enhances the immune response to viral infection

    OpenAIRE

    Holderried, Tobias A. W.; Lang, Philipp A.; Kim, Hye-Jung; Cantor, Harvey

    2013-01-01

    Cellular interactions that regulate the immune response of T cells to viral infection are poorly understood. Here we report that in the absence of activity of CD8 regulatory T-cells (CD8 Treg cells), antiviral immunity is enhanced and the deleterious effects of viral infection are constrained. Using a genetically modified mouse model that displays defective regulatory activity of CD8 Treg cells, the immune response against viruses was substantially enhanced during the acute and chronic phase ...

  6. Natural genetic variation for regulation of photosynthesis response to light in Arabidopsis thaliana

    NARCIS (Netherlands)

    Rooijen, van R.

    2016-01-01

    The efficiency of photosynthesis results from the composition and organization of the plant’s internal structural components as well as the capability of response to environmental fluctuations. This thesis aims at identifying the genetic loci that are regulating the (sub-) processes in

  7. Parallel responses of species and genetic diversities of Indonesian butterflies to disturbance in tropical rainforests

    NARCIS (Netherlands)

    Fauvelot, C.Y.; Cleary, D.F.R.; Menken, S.B.J.

    2007-01-01

    Cécile Fauvelot1,2, Daniel F.R Cleary2,3, and Steph B.J Menken2. Parallel responses of species and genetic diversities of Indonesian butterflies to disturbance in tropical rainforests. 1Environmental Science, University of Bologna at Ravenna, Via S. Alberto 163, I-48100 Ravenna, Italia; 2Institute

  8. Cognitive performance and BMI in childhood: Shared genetic influences between reaction time but not response inhibition

    Science.gov (United States)

    The aim of this work is to understand whether shared genetic influences can explain the associationbetween obesity and cognitive performance, including slower and more variable reaction times(RTs) and worse response inhibition. RT on a four-choice RT task and the go/no-go task, and commission errors...

  9. Population genetics inference for longitudinally-sampled mutants under strong selection.

    Science.gov (United States)

    Lacerda, Miguel; Seoighe, Cathal

    2014-11-01

    Longitudinal allele frequency data are becoming increasingly prevalent. Such samples permit statistical inference of the population genetics parameters that influence the fate of mutant variants. To infer these parameters by maximum likelihood, the mutant frequency is often assumed to evolve according to the Wright-Fisher model. For computational reasons, this discrete model is commonly approximated by a diffusion process that requires the assumption that the forces of natural selection and mutation are weak. This assumption is not always appropriate. For example, mutations that impart drug resistance in pathogens may evolve under strong selective pressure. Here, we present an alternative approximation to the mutant-frequency distribution that does not make any assumptions about the magnitude of selection or mutation and is much more computationally efficient than the standard diffusion approximation. Simulation studies are used to compare the performance of our method to that of the Wright-Fisher and Gaussian diffusion approximations. For large populations, our method is found to provide a much better approximation to the mutant-frequency distribution when selection is strong, while all three methods perform comparably when selection is weak. Importantly, maximum-likelihood estimates of the selection coefficient are severely attenuated when selection is strong under the two diffusion models, but not when our method is used. This is further demonstrated with an application to mutant-frequency data from an experimental study of bacteriophage evolution. We therefore recommend our method for estimating the selection coefficient when the effective population size is too large to utilize the discrete Wright-Fisher model. Copyright © 2014 by the Genetics Society of America.

  10. Identity recognition in response to different levels of genetic relatedness in commercial soya bean

    Science.gov (United States)

    Van Acker, Rene; Rajcan, Istvan; Swanton, Clarence J.

    2017-01-01

    Identity recognition systems allow plants to tailor competitive phenotypes in response to the genetic relatedness of neighbours. There is limited evidence for the existence of recognition systems in crop species and whether they operate at a level that would allow for identification of different degrees of relatedness. Here, we test the responses of commercial soya bean cultivars to neighbours of varying genetic relatedness consisting of other commercial cultivars (intraspecific), its wild progenitor Glycine soja, and another leguminous species Phaseolus vulgaris (interspecific). We found, for the first time to our knowledge, that a commercial soya bean cultivar, OAC Wallace, showed identity recognition responses to neighbours at different levels of genetic relatedness. OAC Wallace showed no response when grown with other commercial soya bean cultivars (intra-specific neighbours), showed increased allocation to leaves compared with stems with wild soya beans (highly related wild progenitor species), and increased allocation to leaves compared with stems and roots with white beans (interspecific neighbours). Wild soya bean also responded to identity recognition but these responses involved changes in biomass allocation towards stems instead of leaves suggesting that identity recognition responses are species-specific and consistent with the ecology of the species. In conclusion, elucidating identity recognition in crops may provide further knowledge into mechanisms of crop competition and the relationship between crop density and yield. PMID:28280587

  11. Stress Response Modulation Underlying the Psychobiology of Resilience.

    Science.gov (United States)

    Averill, Lynnette A; Averill, Christopher L; Kelmendi, Benjamin; Abdallah, Chadi G; Southwick, Steven M

    2018-03-28

    This review focuses on the relationship between resilience and the ability to effectively modulate the stress response. Neurobiological and behavioral responses to stress are highly variable. Exposure to a similar stressor can lead to heterogeneous outcomes-manifesting psychopathology in one individual, but having minimal effect, or even enhancing resilience, in another. We highlight aspects of stress response modulation related to early life development and epigenetics, selected neurobiological and neurochemical systems, and a number of emotional, cognitive, psychosocial, and behavioral factors important in resilience. We also briefly discuss interventions with potential to build and promote resilience. Throughout this review, we include evidence from recent preclinical and clinical studies relevant to the psychobiology of resilient stress response modulation. Effective modulation of the stress response is an essential component of resilience and is dependent on a complex interplay of neurobiological and behavioral factors.

  12. Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

    DEFF Research Database (Denmark)

    Stein, Evan A; Dann, Eldad J; Wiegman, Albert

    2017-01-01

    BACKGROUND: Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been f...... and adults was related to underlying genetic mutations. (A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT02226198).......BACKGROUND: Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been...... formally evaluated in, or approved for, HoFH children. OBJECTIVES: The authors sought to assess the LDL-C efficacy of rosuvastatin versus placebo in HoFH children, and the relationship with underlying genetic mutations. METHODS: This was a randomized, double-blind, 12-week, crossover study of rosuvastatin...

  13. Mechanisms and genetic factors underlying co-use of nicotine and alcohol or other drugs of abuse.

    Science.gov (United States)

    Cross, Sarah J; Lotfipour, Shahrdad; Leslie, Frances M

    2017-03-01

    Concurrent use of tobacco and alcohol or psychostimulants represents a major public health concern, with use of one substance influencing consumption of the other. Co-abuse of these drugs leads to substantial negative health outcomes, reduced cessation, and high economic costs, but the underlying mechanisms are poorly understood. Epidemiological data suggest that tobacco use during adolescence plays a particularly significant role. Adolescence is a sensitive period of development marked by major neurobiological maturation of brain regions critical for reward processing, learning and memory, and executive function. Nicotine exposure during this time produces a unique and long-lasting vulnerability to subsequent substance use, likely via actions at cholinergic, dopaminergic, and serotonergic systems. In this review, we discuss recent clinical and preclinical data examining the genetic factors and mechanisms underlying co-use of nicotine and alcohol or cocaine and amphetamines. We evaluate the critical role of nicotinic acetylcholine receptors throughout, and emphasize the dearth of preclinical studies assessing concurrent drug exposure. We stress important age and sex differences in drug responses, and highlight a brief, low-dose nicotine exposure paradigm that may better model early use of tobacco products. The escalating use of e-cigarettes among youth necessitates a closer look at the consequences of early adolescent nicotine exposure on subsequent alcohol and drug abuse.

  14. Integrating Genetic and Gene Co-expression Analysis Identifies Gene Networks Involved in Alcohol and Stress Responses.

    Science.gov (United States)

    Luo, Jie; Xu, Pei; Cao, Peijian; Wan, Hongjian; Lv, Xiaonan; Xu, Shengchun; Wang, Gangjun; Cook, Melloni N; Jones, Byron C; Lu, Lu; Wang, Xusheng

    2018-01-01

    Although the link between stress and alcohol is well recognized, the underlying mechanisms of how they interplay at the molecular level remain unclear. The purpose of this study is to identify molecular networks underlying the effects of alcohol and stress responses, as well as their interaction on anxiety behaviors in the hippocampus of mice using a systems genetics approach. Here, we applied a gene co-expression network approach to transcriptomes of 41 BXD mouse strains under four conditions: stress, alcohol, stress-induced alcohol and control. The co-expression analysis identified 14 modules and characterized four expression patterns across the four conditions. The four expression patterns include up-regulation in no restraint stress and given an ethanol injection (NOE) but restoration in restraint stress followed by an ethanol injection (RSE; pattern 1), down-regulation in NOE but rescue in RSE (pattern 2), up-regulation in both restraint stress followed by a saline injection (RSS) and NOE, and further amplification in RSE (pattern 3), and up-regulation in RSS but reduction in both NOE and RSE (pattern 4). We further identified four functional subnetworks by superimposing protein-protein interactions (PPIs) to the 14 co-expression modules, including γ-aminobutyric acid receptor (GABA) signaling, glutamate signaling, neuropeptide signaling, cAMP-dependent signaling. We further performed module specificity analysis to identify modules that are specific to stress, alcohol, or stress-induced alcohol responses. Finally, we conducted causality analysis to link genetic variation to these identified modules, and anxiety behaviors after stress and alcohol treatments. This study underscores the importance of integrative analysis and offers new insights into the molecular networks underlying stress and alcohol responses.

  15. Integrating Genetic and Gene Co-expression Analysis Identifies Gene Networks Involved in Alcohol and Stress Responses

    Directory of Open Access Journals (Sweden)

    Jie Luo

    2018-04-01

    Full Text Available Although the link between stress and alcohol is well recognized, the underlying mechanisms of how they interplay at the molecular level remain unclear. The purpose of this study is to identify molecular networks underlying the effects of alcohol and stress responses, as well as their interaction on anxiety behaviors in the hippocampus of mice using a systems genetics approach. Here, we applied a gene co-expression network approach to transcriptomes of 41 BXD mouse strains under four conditions: stress, alcohol, stress-induced alcohol and control. The co-expression analysis identified 14 modules and characterized four expression patterns across the four conditions. The four expression patterns include up-regulation in no restraint stress and given an ethanol injection (NOE but restoration in restraint stress followed by an ethanol injection (RSE; pattern 1, down-regulation in NOE but rescue in RSE (pattern 2, up-regulation in both restraint stress followed by a saline injection (RSS and NOE, and further amplification in RSE (pattern 3, and up-regulation in RSS but reduction in both NOE and RSE (pattern 4. We further identified four functional subnetworks by superimposing protein-protein interactions (PPIs to the 14 co-expression modules, including γ-aminobutyric acid receptor (GABA signaling, glutamate signaling, neuropeptide signaling, cAMP-dependent signaling. We further performed module specificity analysis to identify modules that are specific to stress, alcohol, or stress-induced alcohol responses. Finally, we conducted causality analysis to link genetic variation to these identified modules, and anxiety behaviors after stress and alcohol treatments. This study underscores the importance of integrative analysis and offers new insights into the molecular networks underlying stress and alcohol responses.

  16. Toxicological responses in alfalfa ( Medicago sativa ) under joint ...

    African Journals Online (AJOL)

    Joint effects of Cd2+ and napropamide in seeds, roots or leaves of alfalfa were investigated under different treatments. It was shown that single stress of Cd2+ or napropamide decreased chlorophyll content after 30 days of treatment in different concentrations. The decrease in chlorophyll content became insignificant under ...

  17. Genome-wide analysis of ivermectin response by Onchocerca volvulus reveals that genetic drift and soft selective sweeps contribute to loss of drug sensitivity.

    Directory of Open Access Journals (Sweden)

    Stephen R Doyle

    2017-07-01

    Full Text Available Treatment of onchocerciasis using mass ivermectin administration has reduced morbidity and transmission throughout Africa and Central/South America. Mass drug administration is likely to exert selection pressure on parasites, and phenotypic and genetic changes in several Onchocerca volvulus populations from Cameroon and Ghana-exposed to more than a decade of regular ivermectin treatment-have raised concern that sub-optimal responses to ivermectin's anti-fecundity effect are becoming more frequent and may spread.Pooled next generation sequencing (Pool-seq was used to characterise genetic diversity within and between 108 adult female worms differing in ivermectin treatment history and response. Genome-wide analyses revealed genetic variation that significantly differentiated good responder (GR and sub-optimal responder (SOR parasites. These variants were not randomly distributed but clustered in ~31 quantitative trait loci (QTLs, with little overlap in putative QTL position and gene content between the two countries. Published candidate ivermectin SOR genes were largely absent in these regions; QTLs differentiating GR and SOR worms were enriched for genes in molecular pathways associated with neurotransmission, development, and stress responses. Finally, single worm genotyping demonstrated that geographic isolation and genetic change over time (in the presence of drug exposure had a significantly greater role in shaping genetic diversity than the evolution of SOR.This study is one of the first genome-wide association analyses in a parasitic nematode, and provides insight into the genomics of ivermectin response and population structure of O. volvulus. We argue that ivermectin response is a polygenically-determined quantitative trait (QT whereby identical or related molecular pathways but not necessarily individual genes are likely to determine the extent of ivermectin response in different parasite populations. Furthermore, we propose that genetic

  18. Influence of ethnic traditional cultures on genetic diversity of rice landraces under on-farm conservation in southwest China.

    Science.gov (United States)

    Wang, Yanjie; Wang, Yanli; Sun, Xiaodong; Caiji, Zhuoma; Yang, Jingbiao; Cui, Di; Cao, Guilan; Ma, Xiaoding; Han, Bing; Xue, Dayuan; Han, Longzhi

    2016-10-27

    Crop genetic resources are important components of biodiversity. However, with the large-scale promotion of mono-cropping, genetic diversity has largely been lost. Ex-situ conservation approaches were widely used to protect traditional crop varieties worldwide. However, this method fails to maintain the dynamic evolutionary processes of crop genetic resources in their original habitats, leading to genetic diversity reduction and even loss of the capacity of resistance to new diseases and pests. Therefore, on-farm conservation has been considered a crucial complement to ex-situ conservation. This study aimed at clarifying the genetic diversity differences between ex-situ conservation and on-farm conservation and to exploring the influence of traditional cultures on genetic diversity of rice landraces under on-farm conservation. The conservation status of rice landrace varieties, including Indica and Japonica, non-glutinous rice (Oryza sativa) and glutinous rice (Oryza sativa var. glutinosa Matsum), was obtained through ethno-biology investigation method in 12 villages of ethnic groups from Guizhou, Yunnan and Guangxi provinces of China. The genetic diversity between 24 pairs of the same rice landraces from different times were compared using simple sequence repeat (SSR) molecular markers technology. The landrace paris studied were collected in 1980 and maintained ex-situ, while 2014 samples were collected on-farm in southwest of China. The results showed that many varieties of rice landraces have been preserved on-farm by local farmers for hundreds or thousands of years. The number of alleles (Na), effective number of alleles (Ne), Nei genetic diversity index (He) and Shannon information index (I) of rice landraces were significantly higher by 12.3-30.4 % under on-farm conservation than under ex-situ conservation. Compared with the ex-situ conservation approach, rice landraces under on-farm conservation programs had more alleles and higher genetic diversity. In

  19. When the topic is you: genetic counselor responses to prenatal patients' requests for self-disclosure.

    Science.gov (United States)

    Balcom, Jessica R; Veach, Patricia McCarthy; Bemmels, Heather; Redlinger-Grosse, Krista; LeRoy, Bonnie S

    2013-06-01

    A limited amount of research indicates patient requests play a major role in genetic counselors' self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors' experiences of prenatal patients' requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

  20. Physiological and agronomical responses of Syrah grapevine under protected cultivation

    Directory of Open Access Journals (Sweden)

    Claudia Rita de Souza

    2015-01-01

    Full Text Available The performance of Syrah grapevine under protected cultivation with different plastic films was evaluated during 2012 and 2013 seasons in South of Minas Gerais State. Agronomical and physiological measurements were done on eight years old grapevines, grafted onto ‘1103 Paulsen’ rootstock cultivated under uncovered conditions, covered with transparent and with diffuse plastic films. Both plastic covers induced the highest shoot growth rate and specific leaf area. The diffuse plastic induced greater differences on leaf area, pruning weight and leaf chlorophyll content as compared to uncovered vines. Grapevines under diffuse plastic also had the lowest rates of photosynthesis, stomatal conductance and transpiration. Leaf starch, glucose and fructose contents were not affected by treatment, but leaf sucrose was reduced by transparent plastic. The leaf and stem water potential were higher under diffuse plastic. In 2013, grapevines under diffuse plastic showed the highest yields mainly due to decreased rot incidence and increased cluster weight. Furthermore, berries under diffuse plastic showed the highest anthocyanins concentration. The use of diffuse plastic induces more agronomical benefits to produce Syrah grape under protected cultivation.

  1. Genetic Testing for Sports Performance, Responses to Training and Injury Risk: Practical and Ethical Considerations.

    Science.gov (United States)

    Williams, Alun G; Wackerhage, Henning; Day, Stephen H

    2016-01-01

    This paper addresses practical and ethical considerations regarding genetic tests to predict performance and/or risk of exercise-related injury or illness. Various people might wish to conduct sport-related genetic tests for a variety of reasons. For example, an individual might seek personal genetic information to help guide their own sport participation. A sports coach might wish to test young athletes to aid team selection or individualize training. A physician might want to predict the risk of injury or illness in athletes and advise regarding selection or preventative measures. An insurance company might seek to estimate the risk of career-threatening injury for athletes based partly on genetic information. Whilst this information is, in part, encoded in our DNA sequence, the available tests allow generally only a poor prediction of the aforementioned variables. In other words, the current genetic tests and analysis methods are not powerful enough to inform important decisions in sport to a substantial degree. It is particularly disappointing that more than half of the commercially available genetic tests related to exercise and sport do not appear to identify publicly the genetic variants they assess, making scrutiny by academic scholars and consumers (or their representatives) impossible. There are also challenging ethical issues to consider. For example, the imposition of genetic tests on individuals (especially young people) by third parties is potentially susceptible to abuse. Scientists and practitioners should understand the limitations of the tests currently available, the ethical concerns and the importance of counselling before and after testing so that they are only used in a responsible manner. © 2016 S. Karger AG, Basel.

  2. Human operant learning under concurrent reinforcement of response variability

    NARCIS (Netherlands)

    Maes, J.H.R.; Goot, M.H. van der

    2006-01-01

    This study asked whether the concurrent reinforcement of behavioral variability facilitates learning to emit a difficult target response. Sixty students repeatedly pressed sequences of keys, with an originally infrequently occurring target sequence consistently being followed by positive feedback.

  3. Genetics

    Science.gov (United States)

    ... Likelihood of getting certain diseases Mental abilities Natural talents An abnormal trait (anomaly) that is passed down ... one of them has a genetic disorder. Information Human beings have cells with 46 chromosomes . These consist ...

  4. Peak earthquake response of structures under multi-component excitations

    Science.gov (United States)

    Song, Jianwei; Liang, Zach; Chu, Yi-Lun; Lee, George C.

    2007-12-01

    Accurate estimation of the peak seismic responses of structures is important in earthquake resistant design. The internal force distributions and the seismic responses of structures are quite complex, since ground motions are multi-directional. One key issue is the uncertainty of the incident angle between the directions of ground motion and the reference axes of the structure. Different assumed seismic incidences can result in different peak values within the scope of design spectrum analysis for a given structure and earthquake ground motion record combination. Using time history analysis to determine the maximum structural responses excited by a given earthquake record requires repetitive calculations to determine the critical incident angle. This paper presents a transformation approach for relatively accurate and rapid determination of the maximum peak responses of a linear structure subjected to three-dimensional excitations within all possible seismic incident angles. The responses can be deformations, internal forces, strains and so on. An irregular building structure model is established using SAP2000 program. Several typical earthquake records and an artificial white noise are applied to the structure model to illustrate the variation of the maximum structural responses for different incident angles. Numerical results show that for many structural parameters, the variation can be greater than 100%. This method can be directly applied to time history analysis of structures using existing computer software to determine the peak responses without carrying out the analyses for all possible incident angles. It can also be used to verify and/or modify aseismic designs by using response spectrum analysis.

  5. Testing for a genetic response to sexual selection in a wild Drosophila population.

    Science.gov (United States)

    Gosden, T P; Thomson, J R; Blows, M W; Schaul, A; Chenoweth, S F

    2016-06-01

    In accordance with the consensus that sexual selection is responsible for the rapid evolution of display traits on macroevolutionary scales, microevolutionary studies suggest sexual selection is a widespread and often strong form of directional selection in nature. However, empirical evidence for the contemporary evolution of sexually selected traits via sexual rather than natural selection remains weak. In this study, we used a novel application of quantitative genetic breeding designs to test for a genetic response to sexual selection on eight chemical display traits from a field population of the fly, Drosophila serrata. Using our quantitative genetic approach, we were able to detect a genetically based difference in means between groups of males descended from fathers who had either successfully sired offspring or were randomly collected from the same wild population for one of these display traits, the diene (Z,Z)-5,9-C27 : 2 . Our experimental results, in combination with previous laboratory studies on this system, suggest that both natural and sexual selection may be influencing the evolutionary trajectories of these traits in nature, limiting the capacity for a contemporary evolutionary response. © 2016 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2016 European Society For Evolutionary Biology.

  6. RAGE genetic polymorphisms are associated with risk, chemotherapy response and prognosis in patients with advanced NSCLC.

    Directory of Open Access Journals (Sweden)

    Xiang Wang

    Full Text Available AIM: To explore the association between genetic polymorphisms of the receptor for advanced glycation end-products (RAGE and susceptibility, chemotherapy response rate and prognosis of non-small cell lung cancer (NSCLC. METHOD: This is a prospective study in which 562 patients with NSCLC and 764 healthy controls were enrolled. Three RAGE genetic polymorphisms, namely, -429T/C, -374T/A and 82G/S were genotyped. Platinum-based chemotherapy was given to 432 subjects with advanced inoperable NSCLC and their responses to chemotherapy were evaluated. RESULTS: All the polymorphic genotypes of RAGE polymorphisms were associated with susceptibility for NSCLC. Only the 82G/S polymorphisms denoted a significant difference between responders and non-responders to chemotherapy. The 82SS genotype and 82S allele distribution not only increased the NSCLC risk, but also was associated with a lower chemotherapy response rate and poor prognosis, indicated by overall survival and progression free survival. CONCLUSION: The 82G/S genetic polymorphism of RAGE gene might be used as a genetic marker to screen for patients sensitive to thermotherapy and to predict the prognosis of NSCLC.

  7. Physiological response and productivity of safflower lines under water deficit and rehydration.

    Science.gov (United States)

    Bortolheiro, Fernanda P A P; Silva, Marcelo A

    2017-01-01

    Water deficit is one of the major stresses affecting plant growth and productivity worldwide. Plants induce various morphological, physiological, biochemical and molecular changes to adapt to the changing environment. Safflower (Carthamus tinctorius L.), a potential oil producer, is highly adaptable to various environmental conditions, such as lack of rainfall and temperatures. The objective of this work was to study the physiological and production characteristics of six safflower lines in response to water deficit followed by rehydration. The experiment was conducted in a protected environment and consisted of 30 days of water deficit followed by 18 days of rehydration. A differential response in terms of photosynthetic pigments, electrolyte leakage, water potential, relative water content, grain yield, oil content, oil yield and water use efficiency was observed in the six lines under water stress. Lines IMA 04, IMA 10, IMA 14 showed physiological characteristics of drought tolerance, with IMA 14 and IMA 16 being the most productive after water deficit. IMA 02 and IMA 21 lines displayed intermediate characteristics of drought tolerance. It was concluded that the lines responded differently to water deficit stress, showing considerable genetic variation and influence to the environment.

  8. Transcriptomes Reveal Genetic Signatures Underlying Physiological Variations Imposed by Different Fermentation Conditions in Lactobacillus plantarum

    Science.gov (United States)

    Bongers, Roger S.; van Bokhorst-van de Veen, Hermien; Wiersma, Anne; Overmars, Lex; Marco, Maria L.; Kleerebezem, Michiel

    2012-01-01

    Lactic acid bacteria (LAB) are utilized widely for the fermentation of foods. In the current post-genomic era, tools have been developed that explore genetic diversity among LAB strains aiming to link these variations to differential phenotypes observed in the strains investigated. However, these genotype-phenotype matching approaches fail to assess the role of conserved genes in the determination of physiological characteristics of cultures by environmental conditions. This manuscript describes a complementary approach in which Lactobacillus plantarum WCFS1 was fermented under a variety of conditions that differ in temperature, pH, as well as NaCl, amino acid, and O2 levels. Samples derived from these fermentations were analyzed by full-genome transcriptomics, paralleled by the assessment of physiological characteristics, e.g., maximum growth rate, yield, and organic acid profiles. A data-storage and -mining suite designated FermDB was constructed and exploited to identify correlations between fermentation conditions and industrially relevant physiological characteristics of L. plantarum, as well as the associated transcriptome signatures. Finally, integration of the specific fermentation variables with the transcriptomes enabled the reconstruction of the gene-regulatory networks involved. The fermentation-genomics platform presented here is a valuable complementary approach to earlier described genotype-phenotype matching strategies which allows the identification of transcriptome signatures underlying physiological variations imposed by different fermentation conditions. PMID:22802930

  9. Concrete Mix Design for Service Life of RC Structures under Carbonation Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Seung-Jun Kwon

    2014-01-01

    Full Text Available Steel corrosion in reinforced concrete (RC structure is such a critical problem to structural safety that many researches have been performed for maintaining required performance during intended service life. This paper is for a numerical technique for obtaining optimum concrete mix proportions through genetic algorithm (GA for RC structures under carbonation which is considered as a serious deterioration in underground sites and big cities. For this study, mix proportions and CO2 diffusion coefficients are analyzed through the previous studies, and then the fitness function of CO2 diffusion coefficient is derived through regression analysis. The fitness function from 69 test results includes 5 variables of mix proportions such as w/c (water to cement ratio, cement content, sand content percentage, coarse aggregate content, and R.H. (relative humidity. Through GA technique, simulated mix proportions are obtained for 12 cases of verification and they show reasonable results with average relative error of 4.6%. Assuming intended service life and design parameters, intended CO2 diffusion coefficients and cement contents are determined and then related mix proportions are simulated. The proposed technique can provide initial concrete mix proportions which satisfy service life under carbonation.

  10. Response of bread wheat genotypes to drought simulation under a ...

    African Journals Online (AJOL)

    ASALS) of Kenya, which consist of 83% of total land area, can provide alternative agricultural land for expansion. To reduce cost of dryland research, simulated drought under a rain shelter offers a good alternative for screening because marginal ...

  11. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    NARCIS (Netherlands)

    Scalco, R.S.; Snoeck, M.; Quinlivan, R.; Treves, S.; Laforet, P.; Jungbluth, H.; Voermans, N.C.

    2016-01-01

    Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild

  12. Plant responses to UV and blue light: biochemical and genetic approaches

    International Nuclear Information System (INIS)

    Jenkins, G.I.; Christie, J.M.; Fuglevand, G.; Long, J.C.; Jackson, J.A.

    1995-01-01

    UV and blue light control many aspects of plant growth and development. It is evident that several different photoreceptors mediate responses to UV and blue light, and there are reports of the functional and biochemical characterisation of a putative photoreceptor for phototropism and of the functional and molecular characterisation of the CRY1 photoreceptor, encoded by the Arabidopsis HY4 gene. The CRY1 photoreceptor mediates extension growth and gene expression responses to UV-A/blue light presumably through different or branching signal transduction pathways. Progress has been made in cell physiological and biochemical studies of UV/blue light signal transduction, but much remains to be done to relate candidate UV/blue signal transduction events to particular photoreceptors and responses. The application of a genetic approach in Arabidopsis has been responsible for many advances in understanding UV/blue responses, but further UV-B, UV-A and blue light response mutants need to be isolated. (author)

  13. Genetic Loci Governing Grain Yield and Root Development under Variable Rice Cultivation Conditions

    Directory of Open Access Journals (Sweden)

    Margaret Catolos

    2017-10-01

    Full Text Available Drought is the major abiotic stress to rice grain yield under unpredictable changing climatic scenarios. The widely grown, high yielding but drought susceptible rice varieties need to be improved by unraveling the genomic regions controlling traits enhancing drought tolerance. The present study was conducted with the aim to identify quantitative trait loci (QTLs for grain yield and root development traits under irrigated non-stress and reproductive-stage drought stress in both lowland and upland situations. A mapping population consisting of 480 lines derived from a cross between Dular (drought-tolerant and IR64-21 (drought susceptible was used. QTL analysis revealed three major consistent-effect QTLs for grain yield (qDTY1.1, qDTY1.3, and qDTY8.1 under non-stress and reproductive-stage drought stress conditions, and 2 QTLs for root traits (qRT9.1 for root-growth angle and qRT5.1 for multiple root traits, i.e., seedling-stage root length, root dry weight and crown root number. The genetic locus qDTY1.1 was identified as hotspot for grain yield and yield-related agronomic and root traits. The study identified significant positive correlations among numbers of crown roots and mesocotyl length at the seedling stage and root length and root dry weight at depth at later stages with grain yield and yield-related traits. Under reproductive stage drought stress, the grain yield advantage of the lines with QTLs ranged from 24.1 to 108.9% under upland and 3.0–22.7% under lowland conditions over the lines without QTLs. The lines with QTL combinations qDTY1.3+qDTY8.1 showed the highest mean grain yield advantage followed by lines having qDTY1.1+qDTY8.1 and qDTY1.1+qDTY8.1+qDTY1.3, across upland/lowland reproductive-stage drought stress. The identified QTLs for root traits, mesocotyl length, grain yield and yield-related traits can be immediately deployed in marker-assisted breeding to develop drought tolerant high yielding rice varieties.

  14. Genetically modified parthenocarpic eggplants: improved fruit productivity under both greenhouse and open field cultivation.

    Directory of Open Access Journals (Sweden)

    Pandolfini Tiziana

    2002-04-01

    Full Text Available Abstract Background Parthenocarpy, or fruit development in the absence of fertilization, has been genetically engineered in eggplant and in other horticultural species by using the DefH9-iaaM gene. The iaaM gene codes for tryptophan monoxygenase and confers auxin synthesis, while the DefH9 controlling regions drive expression of the gene specifically in the ovules and placenta. A previous greenhouse trial for winter production of genetically engineered (GM parthenocarpic eggplants demonstrated a significant increase (an average of 33% increase in fruit production concomitant with a reduction in cultivation costs. Results GM parthenocarpic eggplants have been evaluated in three field trials. Two greenhouse spring trials have shown that these plants outyielded the corresponding untransformed genotypes, while a summer trial has shown that improved fruit productivity in GM eggplants can also be achieved in open field cultivation. Since the fruits were always seedless, the quality of GM eggplant fruits was improved as well. RT-PCR analysis demonstrated that the DefH9-iaaM gene is expressed during late stages of fruit development. Conclusions The DefH9-iaaM parthenocarpic gene is a biotechnological tool that enhances the agronomic value of all eggplant genotypes tested. The main advantages of DefH9-iaaM eggplants are: i improved fruit productivity (at least 30–35% under both greenhouse and open field cultivation; ii production of good quality (marketable fruits during different types of cultivation; iii seedless fruit with improved quality. Such advantages have been achieved without the use of either male or female sterility genes.

  15. A genetic predisposition score associates with reduced aerobic capacity in response to acute normobaric hypoxia in lowlanders.

    Science.gov (United States)

    Masschelein, Evi; Puype, Joke; Broos, Siacia; Van Thienen, Ruud; Deldicque, Louise; Lambrechts, Diether; Hespel, Peter; Thomis, Martine

    2015-03-01

    Given the high inter-individual variability in the sensitivity to high altitude, we hypothesize the presence of underlying genetic factors. The aim of this study was to construct a genetic predisposition score based on previously identified high-altitude gene variants to explain the inter-individual variation in the reduced maximal O2 uptake (ΔVo2max) in response to acute hypoxia. Ninety-six healthy young male Belgian lowlanders were included. In both normobaric normoxia (Fio2=20.9%) and acute normobaric hypoxia (Fio2=10.7%-12.5%) Vo2max was measured. Forty-one SNPs in 21 genes were genotyped. A stepwise regression analysis was applied to detect a subset of SNPs to be associated with ΔVo2max. This subset of SNPs was included in the genetic predisposition score. A general linear model and regression analysis with age, weight, height, hypoxic protocol group, and Vo2max in normoxia as covariates were used to test the explained variance of the genetic predisposition score. A ROC analysis was performed to discriminate between the low- and high ΔVo2max subgroups. A stepwise regression analysis revealed a subset of SNPs [rs833070 (VEGFA), rs4253778 (PPARA), rs6735530 (EPAS1), rs4341 (ACE), rs1042713 (ADRB2), and rs1042714 (ADRB2)] to be associated with ΔVo2max. The genetic predisposition score was found to be an independent predictive variable with a partial explained variance of 23% (pgenetic predisposition score showed a significantly predictive value for ΔVo2max.

  16. The Genetics Underlying Natural Variation in the Biotic Interactions of Arabidopsis thaliana: The Challenges of Linking Evolutionary Genetics and Community Ecology.

    Science.gov (United States)

    Roux, F; Bergelson, J

    2016-01-01

    In the context of global change, predicting the responses of plant communities in an ever-changing biotic environment calls for a multipronged approach at the interface of evolutionary genetics and community ecology. However, our understanding of the genetic basis of natural variation involved in mediating biotic interactions, and associated adaptive dynamics of focal plants in their natural communities, is still in its infancy. Here, we review the genetic and molecular bases of natural variation in the response to biotic interactions (viruses, bacteria, fungi, oomycetes, herbivores, and plants) in the model plant Arabidopsis thaliana as well as the adaptive value of these bases. Among the 60 identified genes are a number that encode nucleotide-binding site leucine-rich repeat (NBS-LRR)-type proteins, consistent with early examples of plant defense genes. However, recent studies have revealed an extensive diversity in the molecular mechanisms of defense. Many types of genetic variants associate with phenotypic variation in biotic interactions, even among the genes of large effect that tend to be identified. In general, we found that (i) balancing selection rather than directional selection explains the observed patterns of genetic diversity within A. thaliana and (ii) the cost/benefit tradeoffs of adaptive alleles can be strongly dependent on both genomic and environmental contexts. Finally, because A. thaliana rarely interacts with only one biotic partner in nature, we highlight the benefit of exploring diffuse biotic interactions rather than tightly associated host-enemy pairs. This challenge would help to improve our understanding of coevolutionary quantitative genetics within the context of realistic community complexity. © 2016 Elsevier Inc. All rights reserved.

  17. Mechanisms and pharmacogenetic signals underlying thiazide diuretics blood pressure response.

    Science.gov (United States)

    Shahin, Mohamed H; Johnson, Julie A

    2016-04-01

    Thiazide (TZD) diuretics are among the most commonly prescribed antihypertensives globally; however their chronic blood pressure (BP) lowering mechanism remains unclear. Herein we discuss the current evidence regarding specific mechanisms regulating the antihypertensive effects of TZDs, suggesting that TZDs act via multiple complex and interacting mechanisms, including natriuresis with short term use and direct vasodilatory effects chronically. Additionally, we review pharmacogenomics signals that have been associated with TZDs BP-response in several cohorts (i.e. NEDD4L, PRKCA, EDNRA-GNAS, and YEATS4) and discuss how these genes might be related to TZD BP-response mechanism. Understanding the association between these genes and TZD BP mechanism might facilitate the development of new drugs and therapeutic approaches based on a deeper understanding of the determinants of BP-response. Copyright © 2016. Published by Elsevier Ltd.

  18. Genetic and agronomic assessment of cob traits in corn under low and normal nitrogen management conditions.

    Science.gov (United States)

    Jansen, Constantin; Zhang, Yongzhong; Liu, Hongjun; Gonzalez-Portilla, Pedro J; Lauter, Nick; Kumar, Bharath; Trucillo-Silva, Ignacio; Martin, Juan Pablo San; Lee, Michael; Simcox, Kevin; Schussler, Jeff; Dhugga, Kanwarpal; Lübberstedt, Thomas

    2015-07-01

    Exploring and understanding the genetic basis of cob biomass in relation to grain yield under varying nitrogen management regimes will help breeders to develop dual-purpose maize. With rising energy demands and costs for fossil fuels, alternative energy from renewable sources such as maize cobs will become competitive. Maize cobs have beneficial characteristics for utilization as feedstock including compact tissue, high cellulose content, and low ash and nitrogen content. Nitrogen is quantitatively the most important nutrient for plant growth. However, the influence of nitrogen fertilization on maize cob production is unclear. In this study, quantitative trait loci (QTL) have been analyzed for cob morphological traits such as cob weight, volume, length, diameter and cob tissue density, and grain yield under normal and low nitrogen regimes. 213 doubled-haploid lines of the intermated B73 × Mo17 (IBM) Syn10 population have been resequenced for 8575 bins, based on SNP markers. A total of 138 QTL were found for six traits across six trials using composite interval mapping with ten cofactors and empirical comparison-wise thresholds (P = 0.001). Despite moderate to high repeatabilities across trials, few QTL were consistent across trials and overall levels of explained phenotypic variance were lower than expected some of the cob trait × trial combinations (R (2) = 7.3-43.1 %). Variation for cob traits was less affected by nitrogen conditions than by grain yield. Thus, the economics of cob usage under low nitrogen regimes is promising.

  19. 40 CFR 92.407 - Responsibility under other legal provisions preserved.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 20 2010-07-01 2010-07-01 false Responsibility under other legal... Emission-Related Defect Reporting Requirements, Voluntary Emission Recall Program § 92.407 Responsibility under other legal provisions preserved. The filing of any report under the provisions of this subpart...

  20. 40 CFR 94.407 - Responsibility under other legal provisions preserved.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 20 2010-07-01 2010-07-01 false Responsibility under other legal...-related Defect Reporting Requirements, Voluntary Emission Recall Program § 94.407 Responsibility under other legal provisions preserved. The filing of any report under the provisions of this subpart shall...

  1. 40 CFR 91.906 - Responsibility under other legal provisions preserved.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 20 2010-07-01 2010-07-01 false Responsibility under other legal... Defect Reporting Requirements, Voluntary Emission Recall Program § 91.906 Responsibility under other legal provisions preserved. The filing of any report under the provisions of this subpart will not...

  2. 34 CFR 76.789 - What are an SEA's responsibilities under this subpart?

    Science.gov (United States)

    2010-07-01

    ... 34 Education 1 2010-07-01 2010-07-01 false What are an SEA's responsibilities under this subpart... for Notice and Information § 76.789 What are an SEA's responsibilities under this subpart? (a... the SEA's allocation under the applicable covered program for the academic year in which the charter...

  3. 30 CFR 285.102 - What are MMS's responsibilities under this part?

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 2 2010-07-01 2010-07-01 false What are MMS's responsibilities under this part... Provisions § 285.102 What are MMS's responsibilities under this part? (a) The MMS will ensure that any..., monitoring, and enforcement of activities authorized by a lease or grant under this part. (b) The MMS will...

  4. Genetic polymorphism and immune response to tuberculosis in indigenous populations: a brief review

    Directory of Open Access Journals (Sweden)

    Renata Maronna Praça Longhi

    Full Text Available We systematically reviewed studies of the immune response to tuberculosis and the genetic polymorphisms associated with Th1-or Th2-mediated cytokine expression in indigenous populations. A bibliographic search was performed on the Medline and ISI databases and included studies published between January 1980 and October 2011. The search terms were tuberculosis, American Indians, Amerindian, indigenous, Indians, native people, aboriginal, immun*, host immune, immune response, cytokine*, polymorphism*, and gene. Regardless of their design, studies that evaluated immunoglobulin, cytokine levels and genetic polymorphisms that altered cytokine expression were included. Thirteen studies met the inclusion criteria. The majority of studies were performed in Latin America, and five investigated the Warao ethnic group of Venezuela. Most of the investigations indirectly evaluated the immune response. Higher anergy to the tuberculin skin test, higher IgG4 and IgM levels, higher IL-5 production and lower TNF-a, IL-12p40 and IFN-I production were found in the indigenous populations. The studies also reported a predominantly Th2-type response in these populations and a possibly higher susceptibility to tuberculosis. A better understanding of the relevant genetic polymorphisms and their role in immune regulation would help to clarify the immunogenetic mechanisms of TB infection in these populations. This information would be useful for identifying new treatments and preventing infection and progression to active disease.

  5. Association between neuroticism and amygdala responsivity emerges under stressful conditions

    NARCIS (Netherlands)

    Everaerd, Daphne; Klumpers, Floris; van Wingen, Guido; Tendolkar, Indira; Fernández, Guillén

    2015-01-01

    Increased amygdala reactivity in response to salient stimuli is seen in patients with affective disorders, in healthy subjects at risk for these disorders, and in stressed individuals, making it a prime target for mechanistic studies into the pathophysiology of affective disorders. However, whereas

  6. Passive and active response of bacteria under mechanical compression

    Science.gov (United States)

    Garces, Renata; Miller, Samantha; Schmidt, Christoph F.; Byophysics Team; Institute of Medical Sciences Collaboration

    Bacteria display simple but fascinating cellular structures and geometries. Their shapes are the result of the interplay between osmotic pressure and cell wall construction. Typically, bacteria maintain a high difference of osmotic pressure (on the order of 1 atm) to the environment. This pressure difference (turgor pressure) is supported by the cell envelope, a composite of lipid membranes and a rigid cell wall. The response of the cell envelope to mechanical perturbations such as geometrical confinements is important for the cells survival. Another key property of bacteria is the ability to regulate turgor pressure after abrupt changes of external osmotic conditions. This response relies on the activity of mechanosensitive (MS) channels: membrane proteins that release solutes in response to excessive stress in the cell envelope. We here present experimental data on the mechanical response of the cell envelope and on turgor regulation of bacteria subjected to compressive forces. We indent living cells with micron-sized beads attached to the cantilever of an atomic force microscope (AFM). This approach ensures global deformation of the cell. We show that such mechanical loading is sufficient to gate mechanosensitive channels in isosmotic conditions.

  7. Response of sunflower hybrids to management practices under ...

    African Journals Online (AJOL)

    user

    2011-04-04

    Apr 4, 2011 ... practices under irrigated arid-environment. H. Ali, M. Riaz, A. Zahoor and S. ... photo-synthetically active radiation (PAR), yield components and oil contents to planting geometries and nitrogen rates. Experiment 1 ... be fairly stable (Monteith, 1977; Gallagher and Biscoe,. 1978; Kiniry et al., 1989; Hall et al., ...

  8. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  9. Cardiovascular responses to strength training under occlusive training

    OpenAIRE

    Sergio Benito Hernández; Iván Chulvi Medrano

    2013-01-01

    Occlusive strength training is shown like an alternative to intensive training. Present study shown cardiovascular responses to this training. 10 subjects were subjected to two occlusion training protocols, differentiated by the weight lifted (30 % of maximum weight lifted, post30, and 70 % of maximum weight lifted, post70). The values of arterial systolic tension (TAS), diastolic (TAD) and heart rate (FC) were recorded. The results showing a significant decline in TAS and TAD after post30 of...

  10. Cognitive aspects underlying pain and neuro-physiological responses

    OpenAIRE

    Helen Bedinoto Durgante

    2017-01-01

    La Psicología de la Salud ha investigado intensamente los posibles factores cognitivos implicados en, o responsables de, bienestar físico, emocional y comportamental de los individuos. Los estudios sobre el dolor se abordaron como un factor importante de preocupación en este ámbito, debido a que la construcción depende de diferencias individuales y susceptibles de poseer interpretaciones de los sujetos. Investigaciones han identificado que diferentes mecanismos cognitivos juegan un papel...

  11. Provider Behavior Under Global Budgeting and Policy Responses

    Directory of Open Access Journals (Sweden)

    Chao-Kai Chang MD, PhD

    2015-08-01

    Full Text Available Third-party payer systems are consistently associated with health care cost escalation. Taiwan’s single-payer, universal coverage National Health Insurance (NHI adopted global budgeting (GB to achieve cost control. This study captures ophthalmologists’ response to GB, specifically service volume changes and service substitution between low-revenue and high-revenue services following GB implementation, the subsequent Bureau of NHI policy response, and the policy impact. De-identified eye clinic claims data for the years 2000, 2005, and 2007 were analyzed to study the changes in Simple Claim Form (SCF claims versus Special Case Claims (SCCs. The 3 study years represent the pre-GB period, post-GB but prior to region-wise service cap implementation period, and the post-service cap period, respectively. Repeated measures multilevel regression analysis was used to study the changes adjusting for clinic characteristics and competition within each health care market. SCF service volume (low-revenue, fixed-price patient visits remained constant throughout the study period, but SCCs (covering services involving variable provider effort and resource use with flexibility for discretionary billing increased in 2005 with no further change in 2007. The latter is attributable to a 30% cap negotiated by the NHI Bureau with the ophthalmology association and enforced by the association. This study demonstrates that GB deployed with ongoing monitoring and timely policy responses that are designed in collaboration with professional stakeholders can contain costs in a health insurance–financed health care system.

  12. On the underlying assumptions of threshold Boolean networks as a model for genetic regulatory network behavior.

    Science.gov (United States)

    Tran, Van; McCall, Matthew N; McMurray, Helene R; Almudevar, Anthony

    2013-01-01

    Boolean networks (BoN) are relatively simple and interpretable models of gene regulatory networks. Specifying these models with fewer parameters while retaining their ability to describe complex regulatory relationships is an ongoing methodological challenge. Additionally, extending these models to incorporate variable gene decay rates, asynchronous gene response, and synergistic regulation while maintaining their Markovian nature increases the applicability of these models to genetic regulatory networks (GRN). We explore a previously-proposed class of BoNs characterized by linear threshold functions, which we refer to as threshold Boolean networks (TBN). Compared to traditional BoNs with unconstrained transition functions, these models require far fewer parameters and offer a more direct interpretation. However, the functional form of a TBN does result in a reduction in the regulatory relationships which can be modeled. We show that TBNs can be readily extended to permit self-degradation, with explicitly modeled degradation rates. We note that the introduction of variable degradation compromises the Markovian property fundamental to BoN models but show that a simple state augmentation procedure restores their Markovian nature. Next, we study the effect of assumptions regarding self-degradation on the set of possible steady states. Our findings are captured in two theorems relating self-degradation and regulatory feedback to the steady state behavior of a TBN. Finally, we explore assumptions of synchronous gene response and asynergistic regulation and show that TBNs can be easily extended to relax these assumptions. Applying our methods to the budding yeast cell-cycle network revealed that although the network is complex, its steady state is simplified by the presence of self-degradation and lack of purely positive regulatory cycles.

  13. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

    Directory of Open Access Journals (Sweden)

    Maleeha Maria

    Full Text Available Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD.We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA, retinitis pigmentosa (RP, congenital stationary night blindness (CSNB, or cone dystrophy (CD. We employed genome-wide single nucleotide polymorphism (SNP array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.

  14. Physiological and Proteomic Investigations to Study the Response of Tomato Graft Unions under Temperature Stress.

    Science.gov (United States)

    Muneer, Sowbiya; Ko, Chung Ho; Wei, Hao; Chen, Yuze; Jeong, Byoung Ryong

    2016-01-01

    Grafting is an established practice for asexual propagation in horticultural and agricultural crops. The study on graft unions has become of interest for horticulturists using proteomic and genomic techniques to observe transfer of genetic material and signal transduction pathways from root to shoot and shoot to root. Another reason to study the graft unions was potentially to observe resistance against abiotic stresses. Using physiological and proteomic analyses, we investigated graft unions (rootstock and scions) of tomato genotypes exposed to standard-normal (23/23 and 25/18°C day/night) and high-low temperatures (30/15°C day/night). Graft unions had varied responses to the diverse temperatures. High-low temperature, but not standard-normal temperature, induced the production of reactive oxygen species (ROS) in the form of H2O2 and O2-1 in rootstock and scions. However, the expression of many cell protection molecules was also induced, including antioxidant enzymes and their immunoblots, which also show an increase in their activities such as superoxide dismutase (SOD), catalase (CAT), and ascorbate peroxidase (APX). The graft interfaces thus actively defend against stress by modifying their physiological and proteomic responses to establish a new cellular homeostasis. As a result, many proteins for cellular defense were regulated in graft unions under diverse temperature, in addition to the regulation of photosynthetic proteins, ion binding/transport proteins, and protein synthesis. Moreover, biomass, hardness, and vascular transport activity were evaluated to investigate the basic connectivity between rootstock and scions. Our study provides physiological evidence of the grafted plants' response to diverse temperature. Most notably, our study provides novel insight into the mechanisms used to adapt the diverse temperature in graft unions (rootstock/scion).

  15. Physiological and Proteomic Investigations to Study the Response of Tomato Graft Unions under Temperature Stress.

    Directory of Open Access Journals (Sweden)

    Sowbiya Muneer

    Full Text Available Grafting is an established practice for asexual propagation in horticultural and agricultural crops. The study on graft unions has become of interest for horticulturists using proteomic and genomic techniques to observe transfer of genetic material and signal transduction pathways from root to shoot and shoot to root. Another reason to study the graft unions was potentially to observe resistance against abiotic stresses. Using physiological and proteomic analyses, we investigated graft unions (rootstock and scions of tomato genotypes exposed to standard-normal (23/23 and 25/18°C day/night and high-low temperatures (30/15°C day/night.Graft unions had varied responses to the diverse temperatures. High-low temperature, but not standard-normal temperature, induced the production of reactive oxygen species (ROS in the form of H2O2 and O2-1 in rootstock and scions. However, the expression of many cell protection molecules was also induced, including antioxidant enzymes and their immunoblots, which also show an increase in their activities such as superoxide dismutase (SOD, catalase (CAT, and ascorbate peroxidase (APX. The graft interfaces thus actively defend against stress by modifying their physiological and proteomic responses to establish a new cellular homeostasis. As a result, many proteins for cellular defense were regulated in graft unions under diverse temperature, in addition to the regulation of photosynthetic proteins, ion binding/transport proteins, and protein synthesis. Moreover, biomass, hardness, and vascular transport activity were evaluated to investigate the basic connectivity between rootstock and scions.Our study provides physiological evidence of the grafted plants' response to diverse temperature. Most notably, our study provides novel insight into the mechanisms used to adapt the diverse temperature in graft unions (rootstock/scion.

  16. Process optimization of rolling for zincked sheet technology using response surface methodology and genetic algorithm

    Science.gov (United States)

    Ji, Liang-Bo; Chen, Fang

    2017-07-01

    Numerical simulation and intelligent optimization technology were adopted for rolling and extrusion of zincked sheet. By response surface methodology (RSM), genetic algorithm (GA) and data processing technology, an efficient optimization of process parameters for rolling of zincked sheet was investigated. The influence trend of roller gap, rolling speed and friction factor effects on reduction rate and plate shortening rate were analyzed firstly. Then a predictive response surface model for comprehensive quality index of part was created using RSM. Simulated and predicted values were compared. Through genetic algorithm method, the optimal process parameters for the forming of rolling were solved. They were verified and the optimum process parameters of rolling were obtained. It is feasible and effective.

  17. Genetic and pharmacokinetic determinants of response to transdermal nicotine in white, black, and Asian nonsmokers.

    Science.gov (United States)

    Dempsey, D A; St Helen, G; Jacob, P; Tyndale, R F; Benowitz, N L

    2013-12-01

    The aim of the study was to examine genetic, pharmacokinetic, and demographic factors that influence sensitivity to nicotine in never-smokers. Sixty never-smokers, balanced for gender and race (white, black, and Asian), wore 7-mg nicotine skin patches for up to 8 h. Serial plasma nicotine concentrations and subjective and cardiovascular effects were measured, and genetic variation in the CYP2A6 gene, encoding the primary enzyme responsible for nicotine metabolism, was assessed. Nicotine toxicity requiring patch removal developed in nine subjects and was strongly associated with rate of increase and peak concentrations of plasma nicotine. Toxicity and subjective and cardiovascular effects of nicotine were associated with the presence of reduced-function CYP2A6 alleles, presumably reflecting slow nicotine metabolic inactivation. This study has implications for understanding individual differences in responses to nicotine medications, particularly when they are used for treating medical conditions in nonsmokers, and possibly in vulnerability to developing nicotine dependence.

  18. Human mesostriatal response tracks motivational tendencies under naturalistic goal conflict.

    Science.gov (United States)

    Gonen, Tal; Soreq, Eyal; Eldar, Eran; Ben-Simon, Eti; Raz, Gal; Hendler, Talma

    2016-06-01

    Goal conflict situations, involving the simultaneous presence of reward and punishment, occur commonly in real life, and reflect well-known individual differences in the behavioral tendency to approach or avoid. However, despite accumulating neural depiction of motivational processing, the investigation of naturalistic approach behavior and its interplay with individual tendencies is remarkably lacking. We developed a novel ecological interactive scenario which triggers motivational behavior under high or low goal conflict conditions. Fifty-five healthy subjects played the game during a functional magnetic resonance imaging scan. A machine-learning approach was applied to classify approach/avoidance behaviors during the game. To achieve an independent measure of individual tendencies, an integrative profile was composed from three established theoretical models. Results demonstrated that approach under high relative to low conflict involved increased activity in the ventral tegmental area (VTA), peri-aquaductal gray, ventral striatum (VS) and precuneus. Notably, only VS and VTA activations during high conflict discriminated between approach/avoidance personality profiles, suggesting that the relationship between individual personality and naturalistic motivational tendencies is uniquely associated with the mesostriatal pathway. VTA-VS further demonstrated stronger coupling during high vs low conflict. These findings are the first to unravel the multilevel relationship among personality profile, approach tendencies in naturalistic set-up and their underlying neural manifestation, thus enabling new avenues for investigating approach-related psychopathologies. © The Author (2016). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  19. Simultaneous Estimation of Mixing Rates and Genetic Drift Under Successive Sampling of Genetic Markers With Application to the Mud Crab (Scylla paramamosain) in Japan

    OpenAIRE

    Kitakado, Toshihide; Kitada, Shuichi; Obata, Yasuhiro; Kishino, Hirohisa

    2006-01-01

    In stock enhancement programs, it is important to assess mixing rates of released individuals in stocks. For this purpose, genetic stock identification has been applied. The allele frequencies in a composite population are expressed as a mixture of the allele frequencies in the natural and released populations. The estimation of mixing rates is possible, under successive sampling from the composite population, on the basis of temporal changes in allele frequencies. The allele frequencies in t...

  20. Biochemical and Genetical Responses of Phoenix dactylifera L. to Cadmium Stress

    Science.gov (United States)

    Al-Qurainy, Fahad; Alshameri, Aref

    2017-01-01

    The cadmium (Cd), a heavy metal, causes toxicity, which leads to hampering the growth and development of the plant. The molecular and biochemical approaches were used for the investigation of antioxidant system response and genotoxicity in date palm (Phoenix dactylifera L.) cv. Sagai in pot experiment having Cd. The root length was more affected than the shoot length as more accumulation of Cd occurs in roots. Fresh weights of root and shoot were reduced significantly in treated plants as compared to the control. The proline content was increased at low concentration of Cd (300 µM-CdCl2) than the medium and high concentrations (600 and 900 µM-CdCl2), respectively. The thiobarbituric acid reactive substances (TBARS) content was increased at 600 and 900 µM-CdCl2 compared to the plants treated at 300 µM-CdCl2 and controls. Antioxidant enzymatic assay was performed under Cd stress and compared with control plants. The catalase (CAT) and superoxide dismutase (SOD) activities were found to be high in plants treated with CdCl2 at 300 µM compared to at 600 and 900 µM-CdCl2, respectively. The genotoxicity of Cd was assessed using the inter-simple sequence repeat (ISSR) marker where all treated and control plants were clustered into three main groups based on genetic similarity. P. dactylifera plants were found to be more divergent at high Cd stress as compared to control and plants treated at low concentration of Cd. PMID:29201916

  1. Biochemical and Genetical Responses of Phoenix dactylifera L. to Cadmium Stress

    Directory of Open Access Journals (Sweden)

    Fahad Al-Qurainy

    2017-01-01

    Full Text Available The cadmium (Cd, a heavy metal, causes toxicity, which leads to hampering the growth and development of the plant. The molecular and biochemical approaches were used for the investigation of antioxidant system response and genotoxicity in date palm (Phoenix dactylifera L. cv. Sagai in pot experiment having Cd. The root length was more affected than the shoot length as more accumulation of Cd occurs in roots. Fresh weights of root and shoot were reduced significantly in treated plants as compared to the control. The proline content was increased at low concentration of Cd (300 µM-CdCl2 than the medium and high concentrations (600 and 900 µM-CdCl2, respectively. The thiobarbituric acid reactive substances (TBARS content was increased at 600 and 900 µM-CdCl2 compared to the plants treated at 300 µM-CdCl2 and controls. Antioxidant enzymatic assay was performed under Cd stress and compared with control plants. The catalase (CAT and superoxide dismutase (SOD activities were found to be high in plants treated with CdCl2 at 300 µM compared to at 600 and 900 µM-CdCl2, respectively. The genotoxicity of Cd was assessed using the inter-simple sequence repeat (ISSR marker where all treated and control plants were clustered into three main groups based on genetic similarity. P. dactylifera plants were found to be more divergent at high Cd stress as compared to control and plants treated at low concentration of Cd.

  2. Genetically determined differences in brain response to a primary food reward

    OpenAIRE

    Felsted, Jennifer A.; Ren, Xueying; Chouinard-Decorte, Francois; Small, Dana M.

    2010-01-01

    Combining genetic and neuroimaging techniques may elucidate the biological underpinnings of individual differences in neurophysiology and potential vulnerabilities to disease. The TaqIA A1 variant is associated with diminished DRD2 receptor density, higher body mass, and food reinforcement. It also moderates the relationship between brain response to food and future weight gain. This suggests that the polymorphism is associated with a fundamental difference in the neurophysiology of food that...

  3. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  4. The underlying mechanisms of genetic innovation and speciation in the family Corynebacteriaceae: A phylogenomics approach.

    Science.gov (United States)

    Zhi, Xiao-Yang; Jiang, Zhao; Yang, Ling-Ling; Huang, Ying

    2017-02-01

    The pangenome of a bacterial species population is formed by genetic reduction and genetic expansion over the long course of evolution. Gene loss is a pervasive source of genetic reduction, and (exogenous and endogenous) gene gain is the main driver of genetic expansion. To understand the genetic innovation and speciation of the family Corynebacteriaceae, which cause a wide range of serious infections in humans and animals, we analyzed the pangenome of this family, and reconstructed its phylogeny using a phylogenomics approach. Genetic variations have occurred throughout the whole evolutionary history of the Corynebacteriaceae. Gene loss has been the primary force causing genetic changes, not only in terms of the number of protein families affected, but also because of its continuity on the time series. The variation in metabolism caused by these genetic changes mainly occurred for membrane transporters, two-component systems, and metabolism related to amino acids and carbohydrates. Interestingly, horizontal gene transfer (HGT) not only caused changes related to pathogenicity, but also triggered the acquisition of antimicrobial resistance. The Darwinian theory of evolution did not adequately explain the effects of dispersive HGT and/or gene loss in the evolution of the Corynebacteriaceae. These findings provide new insight into the evolution and speciation of Corynebacteriaceae and advance our understanding of the genetic innovation in microbial populations. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. Delegation of Authority Under the Community Environmental Response Facilitation Act (CERFA) - Decision Memorandum

    Science.gov (United States)

    This memorandum concerns how the Office of Enforcement (OE) proposed that two new authorities under the Community Environmental Response Facilitation Act (CERFA) be delegated to the Regional Administrators.

  6. Exploring the Response of Plants Grown under Uranium Stress

    Energy Technology Data Exchange (ETDEWEB)

    Doustaly, Fany; Berthet, Serge; Bourguignon, Jacques [CEA, iRTSV, Laboratoire de Physiologie Cellulaire Vegetale, UMR 5168 CEA-CNRS-INRA-Univ. Grenoble Alpes (France); Combes, Florence; Vandenbrouck, Yves [CEA, iRTSV, Laboratoire de Biologie a Grande Echelle, EDyP, CEA-Grenoble (France); Carriere, Marie [CEA, INAC, LAN, UMR E3 CEA-Universite Joseph Fourier, Grenoble (France); Vavasseur, Alain [CEA, IBEB, LBDP, Saint Paul lez Durance, CEA Cadarache (France)

    2014-07-01

    Uranium is a natural element which is mainly redistributed in the environment due to human activity, including accidents and spillages. Plants may be useful in cleaning up after incidents, although little is yet known about the relationship between uranium speciation and plant response. We analyzed the impact of different uranium (U) treatments on three plant species namely sunflower, oilseed rape and wheat. Using inductively coupled plasma mass spectrometry elemental analysis, together with a panel of imaging techniques including scanning electron microscopy coupled with energy dispersive spectroscopy, transmission electron microscopy and particle-induced X-ray emission spectroscopy, we have recently shown how chemical speciation greatly influences the accumulation and distribution of U in plants. Uranyl (UO{sub 2}{sup 2+} free ion) is the predominant mobile form in soil surface at low pH in absence of ligands. With the aim to characterize the early plant response to U exposure, complete Arabidopsis transcriptome microarray experiments were conducted on plants exposed to 50 μM uranyl nitrate for 2, 6 and 30 h and highlighted a set of 111 genes with modified expression at these three time points. Quantitative real-time RT-PCR experiments confirmed and completed CATMA micro-arrays results allowing the characterization of biological processes perturbed by U. Functional categorization of deregulated genes emphasizes oxidative stress, cell wall biosynthesis and hormone biosynthesis and signaling. We showed that U stress is perceived by plant cells like a phosphate starvation stress since several phosphate deprivation marker genes were deregulated by U and also highlighted perturbation of iron homeostasis by U. Hypotheses are presented to explain how U perturbs the iron uptake and signaling response. These results give preliminary insights into the pathways affected by uranyl uptake, which will be of interest for engineering plants to help clean areas contaminated with

  7. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease

    DEFF Research Database (Denmark)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S

    2018-01-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns...... the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes...... in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely...

  8. Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines.

    Directory of Open Access Journals (Sweden)

    Edwin Choy

    2008-11-01

    Full Text Available Lymphoblastoid cell lines (LCLs, originally collected as renewable sources of DNA, are now being used as a model system to study genotype-phenotype relationships in human cells, including searches for QTLs influencing levels of individual mRNAs and responses to drugs and radiation. In the course of attempting to map genes for drug response using 269 LCLs from the International HapMap Project, we evaluated the extent to which biological noise and non-genetic confounders contribute to trait variability in LCLs. While drug responses could be technically well measured on a given day, we observed significant day-to-day variability and substantial correlation to non-genetic confounders, such as baseline growth rates and metabolic state in culture. After correcting for these confounders, we were unable to detect any QTLs with genome-wide significance for drug response. A much higher proportion of variance in mRNA levels may be attributed to non-genetic factors (intra-individual variance--i.e., biological noise, levels of the EBV virus used to transform the cells, ATP levels than to detectable eQTLs. Finally, in an attempt to improve power, we focused analysis on those genes that had both detectable eQTLs and correlation to drug response; we were unable to detect evidence that eQTL SNPs are convincingly associated with drug response in the model. While LCLs are a promising model for pharmacogenetic experiments, biological noise and in vitro artifacts may reduce power and have the potential to create spurious association due to confounding.

  9. The Headache Under-Response to Treatment (HURT) Questionnaire

    DEFF Research Database (Denmark)

    Westergaard, Maria Ls; Steiner, Timothy J; Macgregor, E Anne

    2013-01-01

    The HURT Questionnaire consists of eight questions which the patient answers as a measure of effectiveness of intervention against headache. This first assessment of clinical utility was conducted in headache specialist centres in three countries in order to demonstrate that HURT was responsive...... that the best possible outcome had been achieved in each patient. Questionnaires were also answered by 42 patients at initial and final visits to a centre in Italy. Internal consistency reliability was very good (α = 0.85) while test-retest reliability was fair to low (κ = 0.38-0.62 and r(s) = 0...

  10. Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Aurore Curie

    Full Text Available Genetically determined Intellectual Disability (ID is an intractable condition that involves severe impairment of mental abilities such as learning, reasoning and predicting the future. As of today, little is known about the placebo response in patients with ID.To determine if placebo response exists in patients with genetically determined ID.We searched Medline/PubMed, EMBASE, CENTRAL and PsycINFO to find all placebo-controlled double-blind randomized clinical trials (RCTs in patients with genetically determined ID, published up to April 2013, focusing on core ID symptoms.Two investigators extracted outcome data independently.Bias-corrected standardized mean difference (Hedge's g was computed for each outcome measure, using the Comprehensive Meta-Analysis software. A priori defined patient sub-groups were analyzed using a mixed-effect model. The relationship between pre-defined continuous variable moderators (age, IQ, year of publication and trial duration and effect size was analyzed using meta-regression.Twenty-two placebo-controlled double-blind RCTs met the inclusion criteria (n = 721, mean age = 17.1 years, 62% men, mean trial duration = 35 weeks. There was a significant overall placebo response from pre- to post-treatment in patients with ID (g = 0.468, p = 0.002, both for "subjective outcomes" (a third-person's evaluation of the patient (g = 0.563, p = 0.022 and "objective outcomes" (direct evaluation of the patient's abilities (g = 0.434, p = 0.036. Individuals with higher IQ had higher response to placebo (p = 0.02 and no placebo response was observed in ID patients with comorbid dementia. A significant effect of age (p = 0.02 was found, indicating higher placebo responses in treatment of younger patients.Results suggest that patients with genetically determined ID improve in the placebo arm of RCTs. Several mechanisms may contribute to placebo effects in ID, including expectancy, implicit learning and "placebo-by-proxy" induced by

  11. Drought response and genetic diversity in Pisum fulvum, a wild relative of domesticated pea

    OpenAIRE

    Naim-Feil, Erez; Toren, Maya; Aubert, Gregoire; Sherman, Amir; Ophir, Ron; Saranga, Yehoshuo; Abbo, Shahal

    2017-01-01

    Productivity of grain crops in semi-arid areas is often affected by drought, which is likely to increase due to climate changes. A collection of 160 wild pea (Pisum fulvum, Pf) accessions was assembled from across its ecological range in Israel (350-850 mm annual precipitation) and used to assess genetic diversity in this taxon. A range of penology and other morpho-physiological traits was documented. We hypothesized that native species evolving under east Mediterranean climate carry adaptive...

  12. The Response of Simple Polymer Structures Under Dynamic Loading

    Science.gov (United States)

    Proud, William; Ellison, Kay; Yapp, Su; Cole, Cloe; Galimberti, Stefano; Institute of Shock Physics Team

    2017-06-01

    The dynamic response of polymeric materials has been widely studied with the effects of degree of crystallinity, strain rate, temperature and sample size being commonly reported. This study uses a simple PMMA structure, a right cylindrical sample, with structural features such as holes. The features are added an varied in a systematic fashion. Samples were dynamically loaded using a Split Hopkinson Pressure Bar up to failure. The resulting stress-strain curves are presented showing the change in sample response. The strain to failure is shown to increase initially with the presence of holes, while failure stress is relatively unaffected. The fracture patterns seen in the failed samples change, with tensile cracks, Hertzian cones, shear effects being dominant for different holes sizes and geometries. The sample were prepared by laser cutting and checked for residual stress before experiment. The data is used to validate predictive model predictions where material, structure and damage are included.. The Institute of Shock Physics acknowledges the support of Imperial College London and the Atomic Weapons Establishment.

  13. Correlating HIV tropism with immunological response under combination antiretroviral therapy.

    Science.gov (United States)

    Bader, J; Schöni-Affolter, F; Böni, J; Gorgievski-Hrisoho, M; Martinetti, G; Battegay, M; Klimkait, T

    2016-09-01

    A significant percentage of patients infected with HIV-1 experience only suboptimal CD4 cell recovery while treated with combination therapy (cART). It is still unclear whether viral properties such as cell tropism play a major role in this incomplete immune response. This study therefore intended to follow the tropism evolution of the HIV-1 envelope during periods of suppressive cART. Viruses from two distinct patient groups, one with good and another one with poor CD4 recovery after 5 years of suppressive cART, were genotypically analysed for viral tropism at baseline and at the end of the study period. Patients with CCR5-tropic CC-motif chemokine receptor 5 viruses at baseline tended to maintain this tropism to the study end. Patients who had a CXCR4-tropic CXC-motif chemokine receptor 4 virus at baseline were overrepresented in the poor CD4 recovery group. Overall, however, the majority of patients presented with CCR5-tropic viruses at follow-up. Our data lend support to the hypothesis that tropism determination can be used as a parameter for disease progression even if analysed long before the establishment of a poorer immune response. Moreover, the lasting predominating CCR5-tropism during periods of full viral control suggests the involvement of cellular mechanisms that preferentially reduce CXCR4-tropic viruses during cART. © 2016 British HIV Association.

  14. Transcriptional profiling of human breast cancer cells cultured under microgravity conditions revealed the key role of genetic gravity sensors previously detected in Drosophila melanogaster

    Science.gov (United States)

    Valdivia-Silva, Julio E.; Lavan, David; Diego Orihuela-Tacuri, M.; Sanabria, Gabriela

    2016-07-01

    Currently, studies in Drosophila melanogaster has shown emerging evidence that microgravity stimuli can be detected at the genetic level. Analysis of the transcriptome in the pupal stage of the fruit flies under microgravity conditions versus ground controls has suggested the presence of a few candidate genes as "gravity sensors" which are experimentally validated. Additionally, several studies have shown that microgravity causes inhibitory effects in different types of cancer cells, although the genes involved and responsible for these effects are still unknown. Here, we demonstrate that the genes suggested as the sensors of gravitational waves in Drosophila melanogaster and their human counterpart (orthologous genes) are highly involved in carcinogenesis, proliferation, anti-apoptotic signals, invasiveness, and metastatic potential of breast cancer cell tumors. The transcriptome analyses suggested that the observed inhibitory effect in cancer cells could be due to changes in the genetic expression of these candidates. These results encourage the possibility of new therapeutic targets managed together and not in isolation.

  15. Emotional responses to music: the need to consider underlying mechanisms.

    Science.gov (United States)

    Juslin, Patrik N; Västfjäll, Daniel

    2008-10-01

    Research indicates that people value music primarily because of the emotions it evokes. Yet, the notion of musical emotions remains controversial, and researchers have so far been unable to offer a satisfactory account of such emotions. We argue that the study of musical emotions has suffered from a neglect of underlying mechanisms. Specifically, researchers have studied musical emotions without regard to how they were evoked, or have assumed that the emotions must be based on the "default" mechanism for emotion induction, a cognitive appraisal. Here, we present a novel theoretical framework featuring six additional mechanisms through which music listening may induce emotions: (1) brain stem reflexes, (2) evaluative conditioning, (3) emotional contagion, (4) visual imagery, (5) episodic memory, and (6) musical expectancy. We propose that these mechanisms differ regarding such characteristics as their information focus, ontogenetic development, key brain regions, cultural impact, induction speed, degree of volitional influence, modularity, and dependence on musical structure. By synthesizing theory and findings from different domains, we are able to provide the first set of hypotheses that can help researchers to distinguish among the mechanisms. We show that failure to control for the underlying mechanism may lead to inconsistent or non-interpretable findings. Thus, we argue that the new framework may guide future research and help to resolve previous disagreements in the field. We conclude that music evokes emotions through mechanisms that are not unique to music, and that the study of musical emotions could benefit the emotion field as a whole by providing novel paradigms for emotion induction.

  16. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan

    NARCIS (Netherlands)

    Maria, M.; Ajmal, M.; Azam, M.; Waheed, N.K.; Siddiqui, S.N.; Mustafa, B.; Ayub, H.; Ali, L.; Ahmad, S.; Micheal, S.; Hussain, A.; Shah, S.T.; Ali, S.H.; Ahmed, W.; Khan, Y.M.; Hollander, A.I. den; Haer-Wigman, L.; Collin, R.W.J.; Khan, M.I.; Qamar, R.; Cremers, F.P.M.

    2015-01-01

    BACKGROUND: Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective

  17. Genetic Dissection of Anopheles gambiae Gut Epithelial Responses to Serratia marcescens

    Science.gov (United States)

    Stathopoulos, Stavros; Neafsey, Daniel E.; Lawniczak, Mara K. N.; Muskavitch, Marc A. T.; Christophides, George K.

    2014-01-01

    Genetic variation in the mosquito Anopheles gambiae profoundly influences its ability to transmit malaria. Mosquito gut bacteria are shown to influence the outcome of infections with Plasmodium parasites and are also thought to exert a strong drive on genetic variation through natural selection; however, a link between antibacterial effects and genetic variation is yet to emerge. Here, we combined SNP genotyping and expression profiling with phenotypic analyses of candidate genes by RNAi-mediated silencing and 454 pyrosequencing to investigate this intricate biological system. We identified 138 An. gambiae genes to be genetically associated with the outcome of Serratia marcescens infection, including the peptidoglycan recognition receptor PGRPLC that triggers activation of the antibacterial IMD/REL2 pathway and the epidermal growth factor receptor EGFR. Silencing of three genes encoding type III fibronectin domain proteins (FN3Ds) increased the Serratia load and altered the gut microbiota composition in favor of Enterobacteriaceae. These data suggest that natural genetic variation in immune-related genes can shape the bacterial population structure of the mosquito gut with high specificity. Importantly, FN3D2 encodes a homolog of the hypervariable pattern recognition receptor Dscam, suggesting that pathogen-specific recognition may involve a broader family of immune factors. Additionally, we showed that silencing the gene encoding the gustatory receptor Gr9 that is also associated with the Serratia infection phenotype drastically increased Serratia levels. The Gr9 antibacterial activity appears to be related to mosquito feeding behavior and to mostly rely on changes of neuropeptide F expression, together suggesting a behavioral immune response following Serratia infection. Our findings reveal that the mosquito response to oral Serratia infection comprises both an epithelial and a behavioral immune component. PMID:24603764

  18. System Response Analysis and Model Order Reduction, Using Conventional Method, Bond Graph Technique and Genetic Programming

    Directory of Open Access Journals (Sweden)

    Lubna Moin

    2009-04-01

    Full Text Available This research paper basically explores and compares the different modeling and analysis techniques and than it also explores the model order reduction approach and significance. The traditional modeling and simulation techniques for dynamic systems are generally adequate for single-domain systems only, but the Bond Graph technique provides new strategies for reliable solutions of multi-domain system. They are also used for analyzing linear and non linear dynamic production system, artificial intelligence, image processing, robotics and industrial automation. This paper describes a unique technique of generating the Genetic design from the tree structured transfer function obtained from Bond Graph. This research work combines bond graphs for model representation with Genetic programming for exploring different ideas on design space tree structured transfer function result from replacing typical bond graph element with their impedance equivalent specifying impedance lows for Bond Graph multiport. This tree structured form thus obtained from Bond Graph is applied for generating the Genetic Tree. Application studies will identify key issues and importance for advancing this approach towards becoming on effective and efficient design tool for synthesizing design for Electrical system. In the first phase, the system is modeled using Bond Graph technique. Its system response and transfer function with conventional and Bond Graph method is analyzed and then a approach towards model order reduction is observed. The suggested algorithm and other known modern model order reduction techniques are applied to a 11th order high pass filter [1], with different approach. The model order reduction technique developed in this paper has least reduction errors and secondly the final model retains structural information. The system response and the stability analysis of the system transfer function taken by conventional and by Bond Graph method is compared and

  19. Artificial Selection Response due to Polygenic Adaptation from a Multilocus, Multiallelic Genetic Architecture.

    Science.gov (United States)

    Zan, Yanjun; Sheng, Zheya; Lillie, Mette; Rönnegård, Lars; Honaker, Christa F; Siegel, Paul B; Carlborg, Örjan

    2017-10-01

    The ability of a population to adapt to changes in their living conditions, whether in nature or captivity, often depends on polymorphisms in multiple genes across the genome. In-depth studies of such polygenic adaptations are difficult in natural populations, but can be approached using the resources provided by artificial selection experiments. Here, we dissect the genetic mechanisms involved in long-term selection responses of the Virginia chicken lines, populations that after 40 generations of divergent selection for 56-day body weight display a 9-fold difference in the selected trait. In the F15 generation of an intercross between the divergent lines, 20 loci explained >60% of the additive genetic variance for the selected trait. We focused particularly on fine-mapping seven major QTL that replicated in this population and found that only two fine-mapped to single, bi-allelic loci; the other five contained linked loci, multiple alleles or were epistatic. This detailed dissection of the polygenic adaptations in the Virginia lines provides a deeper understanding of the range of different genome-wide mechanisms that have been involved in these long-term selection responses. The results illustrate that the genetic architecture of a highly polygenic trait can involve a broad range of genetic mechanisms, and that this can be the case even in a small population bred from founders with limited genetic diversity. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  20. Shared genetic influences among childhood shyness, social competences, and cortical responses to emotions.

    Science.gov (United States)

    Battaglia, Marco; Michelini, Giorgia; Pezzica, Elettra; Ogliari, Anna; Fagnani, Corrado; Stazi, Maria-Antonietta; Bertoletti, Eleonora; Scaini, Simona

    2017-08-01

    Visual event-related potentials (ERPs) evoked by facial expressions are useful to map socioemotional responses among shy children and to predict transition into social phobia. We investigated the sources of covariation among childhood shyness, social competences, and ERPs to other children's happy, neutral, and angry expressions. Electrophysiological and twin analyses examined the phenotypic and etiological association among an index of childhood shyness, an index of social competences, and ERP responses to facial expressions in 200 twins (mean age=9.23years). Multivariate twin analyses showed that the covariation among shyness, social competences, and a composite of a frontal late negative component occurring around 200-400ms in response to happy, neutral, and angry expressions could be entirely explained by shared genetic factors. A coherent causal structure links childhood shyness, social competences, and the cortical responses to facial emotions. A common genetic substrate can explain the interrelatedness of individual differences for childhood shyness, social competences, and some associated electrophysiological responses to socioemotional signals. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Toxicity of targeted therapy: Implications for response and impact of genetic polymorphisms.

    Science.gov (United States)

    Liu, Sariah; Kurzrock, Razelle

    2014-08-01

    Targeted therapies have unique toxicity profiles. Common adverse events include rash, diarrhea, hypertension, hypothyroidism, proteinuria, depigmentation, and hepatotoxicity. Some of these toxicities are caused by on-target, mechanism-associated effects, which can be stratified as to whether or not the targets are relevant to response. Other toxicities are off-target and may be caused by the class of agent, e.g. antibody vs small molecule tyrosine kinase inhibitor, or by immune reactions or toxic metabolites. Both on- and off-target toxicities may be due to higher drug concentrations or altered end-organ sensitivity, which in turn can be a consequence of genetic polymorphisms controlling metabolism or tissue responsiveness. On-target toxicities are important to identify as some correlate with response and, hence, amelioration of these side effects is preferable to dose reduction or stopping drug. Toxicities secondary to relevant target impact may be recognized when distinct types of agents, such as antibodies and small molecule kinase inhibitors, with the same target have a similar side effect. For example, both bevacizumab and vascular endothelial growth factor receptor (VEGFR) kinase inhibitors cause hypertension; both epidermal growth factor receptor (EGFR) antibodies and kinase inhibitors cause rash; and these toxicities correlate with response. Herein we review common targeted agent-related toxicities, relevant genetic polymorphisms, and implications for response and patient management. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Genetic appraisal of serological response post vaccination against enterotoxaemia (ET) in Malpura and Avikalin sheep.

    Science.gov (United States)

    Gowane, G R; Akram, Najif; Prince, L L L; Prakash, Ved; Kumar, Arun

    2017-04-01

    Enterotoxaemia (ET) is a fatal enteric disease of small ruminants attributable to a toxigenic type of Clostridium perfringens. The key strategy for prevention of ET is the management and vaccination. Present study aimed at identifying the sources of variation for ET vaccine response especially against epsilon toxin in 173 sheep that included 83 Avikalin and 90 Malpura lambs raised at the institute flock in the semi-arid region of India. The mean age at vaccination was 90 days. Sera were tested by blocking ELISA. Study showed significant variability for response to ET vaccine. 5.2% animals had + positivity, 20.8% animals had ++ positivity, 51.4% animals had +++ positivity and 22.5% animals had ++++ positivity. Amongst environmental determinants, breed, season, sex and age at vaccination proved to be non-significant sources of variation (P > 0.05). MHC genotypes with DRB1 gene and DQA2 genes also revealed non-significant association with ET vaccine response; however, a trend of decreasing PI values with increasing ranks was observed. Study revealed strong response of epsilon toxin along with complexity of the ET vaccine response as phenotype to be explained by genetic and non-genetic factors. The importance of better management practices and vaccination is suggested for preventive measures.

  3. Mechanical response of human female breast skin under uniaxial stretching.

    Science.gov (United States)

    Kumaraswamy, N; Khatam, Hamed; Reece, Gregory P; Fingeret, Michelle C; Markey, Mia K; Ravi-Chandar, Krishnaswamy

    2017-10-01

    Skin is a complex material covering the entire surface of the human body. Studying the mechanical properties of skin to calibrate a constitutive model is of great importance to many applications such as plastic or cosmetic surgery and treatment of skin-based diseases like decubitus ulcers. The main objective of the present study was to identify and calibrate an appropriate material constitutive model for skin and establish certain universal properties that are independent of patient-specific variability. We performed uniaxial tests performed on breast skin specimens freshly harvested during mastectomy. Two different constitutive models - one phenomenological and another microstructurally inspired - were used to interpret the mechanical responses observed in the experiments. Remarkably, we found that the model parameters that characterize dependence on previous maximum stretch (or preconditioning) exhibited specimen-independent universal behavior. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Transplant ethics under scrutiny – responsibilities of all medical professionals

    Science.gov (United States)

    Trey, Torsten; Caplan, Arthur L.; Lavee, Jacob

    2013-01-01

    In this text, we present and elaborate ethical challenges in transplant medicine related to organ procurement and organ distribution, together with measures to solve such challenges. Based on internationally acknowledged ethical standards, we looked at cases of organ procurement and distribution practices that deviated from such ethical standards. One form of organ procurement is known as commercial organ trafficking, while in China the organ procurement is mostly based on executing prisoners, including killing of detained Falun Gong practitioners for their organs. Efforts from within the medical community as well as from governments have contributed to provide solutions to uphold ethical standards in medicine. The medical profession has the responsibility to actively promote ethical guidelines in medicine to prevent a decay of ethical standards and to ensure best medical practices. PMID:23444249

  5. Genetic Variation of Morphological Traits and Transpiration in an Apple Core Collection under Well-Watered Conditions: Towards the Identification of Morphotypes with High Water Use Efficiency.

    Directory of Open Access Journals (Sweden)

    Gerardo Lopez

    Full Text Available Water use efficiency (WUE is a quantitative measurement which improvement is a major issue in the context of global warming and restrictions in water availability for agriculture. In this study, we aimed at studying the variation and genetic control of WUE and the respective role of its components (plant biomass and transpiration in a perennial fruit crop. We explored an INRA apple core collection grown in a phenotyping platform to screen one-year-old scions for their accumulated biomass, transpiration and WUE under optimal growing conditions. Plant biomass was decompose into morphological components related to either growth or organ expansion. For each trait, nine mixed models were evaluated to account for the genetic effect and spatial heterogeneity inside the platform. The Best Linear Unbiased Predictors of genetic values were estimated after model selection. Mean broad-sense heritabilities were calculated from variance estimates. Heritability values indicated that biomass (0.76 and WUE (0.73 were under genetic control. This genetic control was lower in plant transpiration with an heritability of 0.54. Across the collection, biomass accounted for 70% of the WUE variability. A Hierarchical Ascendant Classification of the core collection indicated the existence of six groups of genotypes with contrasting morphology and WUE. Differences between morphotypes were interpreted as resulting from differences in the main processes responsible for plant growth: cell division leading to the generation of new organs and cell elongation leading to organ dimension. Although further studies will be necessary on mature trees with more complex architecture and multiple sinks such as fruits, this study is a first step for improving apple plant material for the use of water.

  6. Association among genetic predisposition, gut microbiota, and host immune response in the etiopathogenesis of inflammatory bowel disease.

    Science.gov (United States)

    Basso, P J; Fonseca, M T C; Bonfá, G; Alves, V B F; Sales-Campos, H; Nardini, V; Cardoso, C R B

    2014-09-01

    Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is a chronic disorder that affects thousands of people around the world. These diseases are characterized by exacerbated uncontrolled intestinal inflammation that leads to poor quality of life in affected patients. Although the exact cause of IBD still remains unknown, compelling evidence suggests that the interplay among immune deregulation, environmental factors, and genetic polymorphisms contributes to the multifactorial nature of the disease. Therefore, in this review we present classical and novel findings regarding IBD etiopathogenesis. Considering the genetic causes of the diseases, alterations in about 100 genes or allelic variants, most of them in components of the immune system, have been related to IBD susceptibility. Dysbiosis of the intestinal microbiota also plays a role in the initiation or perpetuation of gut inflammation, which develops under altered or impaired immune responses. In this context, unbalanced innate and especially adaptive immunity has been considered one of the major contributing factors to IBD development, with the involvement of the Th1, Th2, and Th17 effector population in addition to impaired regulatory responses in CD or UC. Finally, an understanding of the interplay among pathogenic triggers of IBD will improve knowledge about the immunological mechanisms of gut inflammation, thus providing novel tools for IBD control.

  7. Human thermal physiological and psychological responses under different heating environments.

    Science.gov (United States)

    Wang, Zhaojun; Ning, Haoran; Ji, Yuchen; Hou, Juan; He, Yanan

    2015-08-01

    Anecdotal evidence suggests that many residents of severely cold areas of China who use floor heating (FH) systems feel warmer but drier compared to those using radiant heating (RH) systems. However, this phenomenon has not been verified experimentally. In order to validate the empirical hypothesis, and research the differences of human physiological and psychological responses in these two asymmetrical heating environments, an experiment was designed to mimic FH and RH systems. The subjects participating in the experiment were volunteer college-students. During the experiment, the indoor air temperature, air speed, relative humidity, globe temperature, and inner surface temperatures were measured, and subjects' heart rate, blood pressure and skin temperatures were recorded. The subjects were required to fill in questionnaires about their thermal responses during testing. The results showed that the subjects' skin temperatures, heart rate and blood pressure were significantly affected by the type of heating environment. Ankle temperature had greatest impact on overall thermal comfort relative to other body parts, and a slightly cool FH condition was the most pleasurable environment for sedentary subjects. The overall thermal sensation, comfort and acceptability of FH were higher than that of RH. However, the subjects of FH felt drier than that of RH, although the relative humidity in FH environments was higher than that of the RH environment. In future environmental design, the thermal comfort of the ankles should be scrutinized, and a FH cool condition is recommended as the most comfortable thermal environment for office workers. Consequently, large amounts of heating energy could be saved in this area in the winter. The results of this study may lead to more efficient energy use for office or home heating systems. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. 75 FR 68911 - Regulations Under the Genetic Information Nondiscrimination Act of 2008

    Science.gov (United States)

    2010-11-09

    ... covered entities, however, might engage in conduct that could cause an employer to discriminate. For... disease or disorder. But just as the number of genetic tests increases, so do the concerns of the general... efforts to develop new medicines and treatments for genetic diseases and disorders would be slowed or...

  9. Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response.

    Science.gov (United States)

    Fabbri, Chiara; Hosak, Ladislav; Mössner, Rainald; Giegling, Ina; Mandelli, Laura; Bellivier, Frank; Claes, Stephan; Collier, David A; Corrales, Alejo; Delisi, Lynn E; Gallo, Carla; Gill, Michael; Kennedy, James L; Leboyer, Marion; Lisoway, Amanda; Maier, Wolfgang; Marquez, Miguel; Massat, Isabelle; Mors, Ole; Muglia, Pierandrea; Nöthen, Markus M; O'Donovan, Michael C; Ospina-Duque, Jorge; Propping, Peter; Shi, Yongyong; St Clair, David; Thibaut, Florence; Cichon, Sven; Mendlewicz, Julien; Rujescu, Dan; Serretti, Alessandro

    2017-02-01

    Major depressive disorder (MDD) is a heritable disease with a heavy personal and socio-economic burden. Antidepressants of different classes are prescribed to treat MDD, but reliable and reproducible markers of efficacy are not available for clinical use. Further complicating treatment, the diagnosis of MDD is not guided by objective criteria, resulting in the risk of under- or overtreatment. A number of markers of MDD and antidepressant response have been investigated at the genetic, epigenetic, gene expression and protein levels. Polymorphisms in genes involved in antidepressant metabolism (cytochrome P450 isoenzymes), antidepressant transport (ABCB1), glucocorticoid signalling (FKBP5) and serotonin neurotransmission (SLC6A4 and HTR2A) were among those included in the first pharmacogenetic assays that have been tested for clinical applicability. The results of these investigations were encouraging when examining patient-outcome improvement. Furthermore, a nine-serum biomarker panel (including BDNF, cortisol and soluble TNF-α receptor type II) showed good sensitivity and specificity in differentiating between MDD and healthy controls. These first diagnostic and response-predictive tests for MDD provided a source of optimism for future clinical applications. However, such findings should be considered very carefully because their benefit/cost ratio and clinical indications were not clearly demonstrated. Future tests may include combinations of different types of biomarkers and be specific for MDD subtypes or pathological dimensions.

  10. Luminescence response of synthetic opal under femtosecond laser pumping

    International Nuclear Information System (INIS)

    Vasnetsov, M.V.; Bazhenov, V.Yu.; Dmitruk, I.N.; Kudryavtseva, A.D.; Tcherniega, N.V.

    2015-01-01

    Synthetic opal is an artificial photonic metamaterial composed from spherical globules of amorphous silica (SiO 2 ) about 300 nm in diameter. We report, for the first time to our knowledge, the origin of a narrow luminescence spectral peak (4 nm HWHM) and optical second and third harmonic generation in synthetic opal samples under femtosecond laser excitation (800 nm) at liquid-nitrogen temperature. Stimulated-emission effects are discussed related to the possibility of nanocavity lasing at the condition of the first Mie resonance in a dielectric sphere. - Highlights: • Second harmonic generation in a synthetic opal (amorphous material composed from spherical SiO 2 globules) was observed. • Narrow luminescence peak which we assign to a Mie resonance in a globule was detected at liquid-nitrogen temperature

  11. An iterative genetic and dynamical modelling approach identifies novel features of the gene regulatory network underlying melanocyte development.

    Science.gov (United States)

    Greenhill, Emma R; Rocco, Andrea; Vibert, Laura; Nikaido, Masataka; Kelsh, Robert N

    2011-09-01

    The mechanisms generating stably differentiated cell-types from multipotent precursors are key to understanding normal development and have implications for treatment of cancer and the therapeutic use of stem cells. Pigment cells are a major derivative of neural crest stem cells and a key model cell-type for our understanding of the genetics of cell differentiation. Several factors driving melanocyte fate specification have been identified, including the transcription factor and master regulator of melanocyte development, Mitf, and Wnt signalling and the multipotency and fate specification factor, Sox10, which drive mitf expression. While these factors together drive multipotent neural crest cells to become specified melanoblasts, the mechanisms stabilising melanocyte differentiation remain unclear. Furthermore, there is controversy over whether Sox10 has an ongoing role in melanocyte differentiation. Here we use zebrafish to explore in vivo the gene regulatory network (GRN) underlying melanocyte specification and differentiation. We use an iterative process of mathematical modelling and experimental observation to explore methodically the core melanocyte GRN we have defined. We show that Sox10 is not required for ongoing differentiation and expression is downregulated in differentiating cells, in response to Mitfa and Hdac1. Unexpectedly, we find that Sox10 represses Mitf-dependent expression of melanocyte differentiation genes. Our systems biology approach allowed us to predict two novel features of the melanocyte GRN, which we then validate experimentally. Specifically, we show that maintenance of mitfa expression is Mitfa-dependent, and identify Sox9b as providing an Mitfa-independent input to melanocyte differentiation. Our data supports our previous suggestion that Sox10 only functions transiently in regulation of mitfa and cannot be responsible for long-term maintenance of mitfa expression; indeed, Sox10 is likely to slow melanocyte differentiation in the

  12. Nonlinear ecosystem services response to groundwater availability under climate extremes

    Science.gov (United States)

    Qiu, J.; Zipper, S. C.; Motew, M.; Booth, E.; Kucharik, C. J.; Steven, L. I.

    2017-12-01

    Depletion of groundwater has been accelerating at regional to global scales. Besides serving domestic, industrial and agricultural needs, in situ groundwater is also a key control on biological, physical and chemical processes across the critical zone, all of which underpin supply of ecosystem services essential for humanity. While there is a rich history of research on groundwater effects on subsurface and surface processes, understanding interactions, nonlinearity and feedbacks between groundwater and ecosystem services remain limited, and almost absent in the ecosystem service literature. Moreover, how climate extremes may alter groundwater effects on services is underexplored. In this research, we used a process-based ecosystem model (Agro-IBIS) to quantify groundwater effects on eight ecosystem services related to food, water and biogeochemical processes in an urbanizing agricultural watershed in the Midwest, USA. We asked: (1) Which ecosystem services are more susceptible to shallow groundwater influences? (2) Do effects of groundwater on ecosystem services vary under contrasting climate conditions (i.e., dry, wet and average)? (3) Where on the landscape are groundwater effects on ecosystem services most pronounced? (4) How do groundwater effects depend on water table depth? Overall, groundwater significantly impacted all services studied, with the largest effects on food production, water quality and quantity, and flood regulation services. Climate also mediated groundwater effects with the strongest effects occurring under dry climatic conditions. There was substantial spatial heterogeneity in groundwater effects across the landscape that is driven in part by spatial variations in water table depth. Most ecosystem services responded nonlinearly to groundwater availability, with most apparent groundwater effects occurring when the water table is shallower than a critical depth of 2.5-m. Our findings provide compelling evidence that groundwater plays a vital

  13. Seedling Emergence and Phenotypic Response of Common Bean Germplasm to Different Temperatures under Controlled Conditions and in Open Field

    Directory of Open Access Journals (Sweden)

    Antonio M. DE RON

    2016-08-01

    Full Text Available Rapid and uniform seed germination and seedling emergence under diverse environmental conditions is a desirable characteristic for crops. Common bean genotypes (Phaseolus vulgaris L. differ in their low temperature tolerance regarding growth and yield. Cultivars tolerant to low temperature during the germination and emergence stages and carriers of the grain quality standards demanded by consumers are needed for the success of the bean crop. The objectives of this study were i to screen the seedling emergence and the phenotypic response of bean germplasm under a range of temperatures in controlled chamber and field conditions to display stress-tolerant genotypes with good agronomic performances and yield potential, and ii to compare the emergence of bean seedlings under controlled environment and in open field conditions to assess the efficiency of genebanks standard germination tests for predicting the performance of the seeds in the field. Three trials were conducted with 28 dry bean genotypes in open field and in growth chamber under low, moderate and warm temperature. Morpho-agronomic data were used to evaluate the phenotypic performance of the different genotypes. Cool temperatures resulted in a reduction of the rate of emergence in the bean genotypes, however, emergence and early growth of bean could be under different genetic control and these processes need further research to be suitably modeled. Nine groups arose from the Principal Component Analysis (PCA representing variation in emergence time and proportion of emergence in the controlled chamber and in the open field indicating a trend to lower emergence in large and extra-large seeded genotypes. Screening of seedling emergence and phenotypic response of the bean germplasm under a range of temperatures in controlled growth chambers and under field conditions showed several genotypes, as landraces 272, 501, 593 and the cultivar Borlotto, with stress-tolerance at emergence and high

  14. Genetic variation in the endocannabinoid system and response to Cognitive Behavior Therapy for child anxiety disorders

    Science.gov (United States)

    Coleman, Jonathan R. I.; Roberts, Susanna; Keers, Robert; Breen, Gerome; Bögels, Susan; Creswell, Cathy; Hudson, Jennifer L.; McKinnon, Anna; Nauta, Maaike; Rapee, Ronald M.; Schneider, Silvia; Silverman, Wendy K.; Thastum, Mikael; Waite, Polly; Wergeland, Gro Janne H.; Eley, Thalia C.

    2016-01-01

    Extinction learning is an important mechanism in the successful psychological treatment of anxiety. Individual differences in response and relapse following Cognitive Behavior Therapy may in part be explained by variability in the ease with which fears are extinguished or the vulnerability of these fears to re‐emerge. Given the role of the endocannabinoid system in fear extinction, this study investigates whether genetic variation in the endocannabinoid system explains individual differences in response to CBT. Children (N = 1,309) with a primary anxiety disorder diagnosis were recruited. We investigated the relationship between variation in the CNR1, CNR2, and FAAH genes and change in primary anxiety disorder severity between pre‐ and post‐treatment and during the follow‐up period in the full sample and a subset with fear‐based anxiety disorder diagnoses. Change in symptom severity during active treatment was nominally associated (P < 0.05) with two SNPs. During the follow‐up period, five SNPs were nominally associated with a poorer treatment response (rs806365 [CNR1]; rs2501431 [CNR2]; rs2070956 [CNR2]; rs7769940 [CNR1]; rs2209172 [FAAH]) and one with a more favorable response (rs6928813 [CNR1]). Within the fear‐based subset, the effect of rs806365 survived multiple testing corrections (P < 0.0016). We found very limited evidence for an association between variants in endocannabinoid system genes and treatment response once multiple testing corrections were applied. Larger, more homogenous cohorts are needed to allow the identification of variants of small but statistically significant effect and to estimate effect sizes for these variants with greater precision in order to determine their potential clinical utility. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:27346075

  15. Cognitive aspects underlying pain and neuro-physiological responses

    Directory of Open Access Journals (Sweden)

    Helen Bedinoto Durgante

    2017-01-01

    Full Text Available La Psicología de la Salud ha investigado intensamente los posibles factores cognitivos implicados en, o responsables de, bienestar físico, emocional y comportamental de los individuos. Los estudios sobre el dolor se abordaron como un factor importante de preocupación en este ámbito, debido a que la construcción depende de diferencias individuales y susceptibles de poseer interpretaciones de los sujetos. Investigaciones han identificado que diferentes mecanismos cognitivos juegan un papel en los relatos de señales de dolor de los individuos a. El impacto de la cognición en la percepción del dolor de individuos puede incluso provocar respuestas neurológicas, que en algu - nos casos podrían evitarse mediante el uso de ciertas estrategias cognitivas. Este artículo describe los principales aspectos y procesos cognitivos del dolor y las res - puestas neurofisiológicas.

  16. Cardiovascular responses to strength training under occlusive training

    Directory of Open Access Journals (Sweden)

    Sergio Benito Hernández

    2013-11-01

    Full Text Available Occlusive strength training is shown like an alternative to intensive training. Present study shown cardiovascular responses to this training. 10 subjects were subjected to two occlusion training protocols, differentiated by the weight lifted (30 % of maximum weight lifted, post30, and 70 % of maximum weight lifted, post70. The values of arterial systolic tension (TAS, diastolic (TAD and heart rate (FC were recorded. The results showing a significant decline in TAS and TAD after post30 of 7 and 13 mm Hg respectively from basis values (p0.005. Heart rate (FC values do not change from the basal value by any protocol (p>0.05. Trivial effect size (ES<0.25 were observed for all groups. In conclusion, results from present study shown a significant reduction in TAS and TAD in occlusive training protocols, resulting in more pronounced when is applied the greatest intensity of training. Further studies are needed to examine the behaviour of cardiovascular parameters after occlusive strength training.

  17. Thermal response of nanocomposite materials under pulsed laser excitation

    International Nuclear Information System (INIS)

    Rashidi-Huyeh, Majid; Palpant, Bruno

    2004-01-01

    The optical properties of nanocomposite materials made of matrix-embedded noble metal nanoparticles strongly depend on thermal effects from different origins. We propose a classical model describing the energy exchanges within the nanoparticles and between the latter and the surrounding dielectric host subsequent to a light pulse absorption. This model, which accounts for the thermal interactions between neighboring particles, allows us to calculate numerically the temperature dynamics of the electrons, metal lattice and matrix as functions of particle size, and metal concentration of the medium, whatever be the pulsed excitation temporal regime. It is illustrated in the case of Au:SiO 2 materials under femtosecond and nanosecond pulse excitation. It is shown that, in the femtosecond regime, the heat transfer to the matrix cannot be neglected beyond a few picosecond delay from which particle size and metal concentration play a significant role in the electron relaxation. In the nanosecond regime, these morphologic parameters influence crucially the material thermal behavior with the possibility of generating a thermal lens effect. The implications in the analysis of experimental results regarding both the electron relaxation dynamics and the nonlinear optical properties are also discussed. Finally, a method to adapt the model to the case of thin nanocomposite film is proposed

  18. Analyses of transient plant response under emergency situations

    Energy Technology Data Exchange (ETDEWEB)

    Koyama, Kazuya [Advanced Reactor Technology, Co. Ltd., Engineering Department, Tokyo (Japan); Shimakawa, Yoshio; Hishida, Masahiko [Mitsubishi Heavy Industry, Ltd., Reactor Core Engineering and Safety Engineering Department, Tokyo (Japan)

    1999-03-01

    In order to support development of the dynamic reliability analysis program DYANA, analyses were made on the event sequences anticipated under emergency situations using the plant dynamics simulation computer code Super-COPD. The analytical models were developed for Super-COPD such as the guard vessel, the maintenance cooling system, the sodium overflow and makeup system, etc. in order to apply the code to the simulation of the emergency situations. The input data were prepared for the analyses. About 70 sequences were analyzed, which are categorized into the following events: (1) PLOHS (Protected Loss of Heat Sink), (2) LORL (Loss of Reactor Level)-J: failure of sodium makeup by the primary sodium overflow and makeup system, (3) LORL-G : failure of primary coolant pump trip, (4) LORL-I: failure of the argon cover gas isolation, and (5) heat removal only using the ventilation system of the primary cooling system rooms. The results were integrated into an input file for preparing the functions for the neural network simulation. (author)

  19. Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.

    Science.gov (United States)

    Campos-Obando, Natalia; Oei, Ling; Hoefsloot, Lies H; Kiewiet, Rosalie M; Klaver, Caroline C W; Simon, Marleen E H; Zillikens, M Carola

    2014-04-01

    Although the baby growing in its mother's womb needs calcium for skeletal development, osteoporosis and fractures very rarely occur during pregnancy. A 27-year-old woman in the seventh month of her first pregnancy contracted midthoracic back pain after lifting an object. The pain was attributed to her pregnancy, but it remained postpartum. Her past medical history was uneventful, except for severely reduced vision of her left eye since birth. Family history revealed that her maternal grandmother had postmenopausal osteoporosis and her half-brother had three fractures during childhood after minor trauma. Her height was 1.58 m; she had no blue sclerae or joint hyperlaxity. Laboratory examination including serum calcium, phosphate, alkaline phosphatase, creatinine, β-carboxyterminal cross-linking telopeptide of type I collagen, 25-hydroxyvitamin D, and TSH was normal. Multiple thoracic vertebral fractures were diagnosed on x-ray examination, and dual-energy x-ray absorptiometry scanning showed severe osteoporosis (Z-scores: L2-L4, -5.6 SD; femur neck, -3.9 SD). DNA analyses revealed two compound heterozygous missense mutations in LRP5. The patient's mother carried one of the LRP5 mutations and was diagnosed with osteoporosis. Her half-brother, treated with cabergoline for a microprolactinoma, also had osteoporosis of the lumbar spine on dual-energy x-ray absorptiometry and carried the same LRP5 mutation. The patient was treated with risedronate for 2.5 years. Bone mineral density and back pain improved. She stopped bisphosphonate use 6 months before planning a second pregnancy. Our patient was diagnosed with osteoporosis pseudoglioma syndrome/familial exudative vitreoretinopathy. Potential underlying genetic causes should be considered in pregnancy-associated osteoporosis with implications for patients and relatives. More studies regarding osteoporosis treatment preceding conception are desirable.

  20. Likelihood for transcriptions in a genetic regulatory system under asymmetric stable Lévy noise

    Science.gov (United States)

    Wang, Hui; Cheng, Xiujun; Duan, Jinqiao; Kurths, Jürgen; Li, Xiaofan

    2018-01-01

    This work is devoted to investigating the evolution of concentration in a genetic regulation system, when the synthesis reaction rate is under additive and multiplicative asymmetric stable Lévy fluctuations. By focusing on the impact of skewness (i.e., non-symmetry) in the probability distributions of noise, we find that via examining the mean first exit time (MFET) and the first escape probability (FEP), the asymmetric fluctuations, interacting with nonlinearity in the system, lead to peculiar likelihood for transcription. This includes, in the additive noise case, realizing higher likelihood of transcription for larger positive skewness (i.e., asymmetry) index β, causing a stochastic bifurcation at the non-Gaussianity index value α = 1 (i.e., it is a separating point or line for the likelihood for transcription), and achieving a turning point at the threshold value β≈-0.5 (i.e., beyond which the likelihood for transcription suddenly reversed for α values). The stochastic bifurcation and turning point phenomena do not occur in the symmetric noise case (β = 0). While in the multiplicative noise case, non-Gaussianity index value α = 1 is a separating point or line for both the MFET and the FEP. We also investigate the noise enhanced stability phenomenon. Additionally, we are able to specify the regions in the whole parameter space for the asymmetric noise, in which we attain desired likelihood for transcription. We have conducted a series of numerical experiments in "regulating" the likelihood of gene transcription by tuning asymmetric stable Lévy noise indexes. This work offers insights for possible ways of achieving gene regulation in experimental research.

  1. The evolutionary genetics of the genes underlying phenotypic associations for loblolly pine (Pinus taeda, Pinaceae).

    Science.gov (United States)

    Eckert, Andrew J; Wegrzyn, Jill L; Liechty, John D; Lee, Jennifer M; Cumbie, W Patrick; Davis, John M; Goldfarb, Barry; Loopstra, Carol A; Palle, Sreenath R; Quesada, Tania; Langley, Charles H; Neale, David B

    2013-12-01

    A primary goal of evolutionary genetics is to discover and explain the genetic basis of fitness-related traits and how this genetic basis evolves within natural populations. Unprecedented technological advances have fueled the discovery of genetic variants associated with ecologically relevant phenotypes in many different life forms, as well as the ability to scan genomes for deviations from selectively neutral models of evolution. Theoretically, the degree of overlap between lists of genomic regions identified using each approach is related to the genetic architecture of fitness-related traits and the strength and type of natural selection molding variation at these traits within natural populations. Here we address for the first time in a plant the degree of overlap between these lists, using patterns of nucleotide diversity and divergence for >7000 unique amplicons described from the extensive expressed sequence tag libraries generated for loblolly pine (Pinus taeda L.) in combination with the >1000 published genetic associations. We show that loci associated with phenotypic traits are distinct with regard to neutral expectations. Phenotypes measured at the whole plant level (e.g., disease resistance) exhibit an approximately twofold increase in the proportion of adaptive nonsynonymous substitutions over the genome-wide average. As expected for polygenic traits, these signals were apparent only when loci were considered at the level of functional sets. The ramifications of this result are discussed in light of the continued efforts to dissect the genetic basis of quantitative traits.

  2. 29 CFR 17.4 - What are the Secretary's general responsibilities under the Order?

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 1 2010-07-01 2010-07-01 true What are the Secretary's general responsibilities under the Order? 17.4 Section 17.4 Labor Office of the Secretary of Labor INTERGOVERNMENTAL REVIEW OF DEPARTMENT OF LABOR PROGRAMS AND ACTIVITIES § 17.4 What are the Secretary's general responsibilities under the...

  3. 20 CFR 667.705 - Who is responsible for funds provided under title I of WIA?

    Science.gov (United States)

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Who is responsible for funds provided under title I of WIA? 667.705 Section 667.705 Employees' Benefits EMPLOYMENT AND TRAINING ADMINISTRATION... WIA? (a) The recipient is responsible for all funds under its grant(s). (b) The political jurisdiction...

  4. Response of structural elements under non-uniformly distributed dynamic loads

    NARCIS (Netherlands)

    Westerhof, T.A.T.; Huebner, M.; Ferretti, D.L.; Doormaal, J.C.A.M. van; Gebbeken, N.

    2016-01-01

    Determination of the structural response of a structural element under blast loading is of interest to vulnerability / lethality (V/L) studies of military operations in urban terrain. These studies require a quick and easy to use method to simulate the structural response of e.g. a wall under

  5. A Conserved Carbon Starvation Response Underlies Bud Dormancy in Woody and Herbaceous Species

    Science.gov (United States)

    Tarancón, Carlos; González-Grandío, Eduardo; Oliveros, Juan C.; Nicolas, Michael; Cubas, Pilar

    2017-01-01

    Plant shoot systems give rise to characteristic above-ground plant architectures. Shoots are formed from axillary meristems and buds, whose growth and development is modulated by systemic and local signals. These cues convey information about nutrient and water availability, light quality, sink/source organ activity and other variables that determine the timeliness and competence to maintain development of new shoots. This information is translated into a local response, in meristems and buds, of growth or quiescence. Although some key genes involved in the onset of bud latency have been identified, the gene regulatory networks (GRNs) controlled by these genes are not well defined. Moreover, it has not been determined whether bud dormancy induced by environmental cues, such as a low red-to-far-red light ratio, shares genetic mechanisms with bud latency induced by other causes, such as apical dominance or a short-day photoperiod. Furthermore, the evolution and conservation of these GRNs throughout angiosperms is not well established. We have reanalyzed public transcriptomic datasets that compare quiescent and active axillary buds of Arabidopsis, with datasets of axillary buds of the woody species Vitis vinifera (grapevine) and apical buds of Populus tremula x Populus alba (poplar) during the bud growth-to-dormancy transition. Our aim was to identify potentially common GRNs induced during the process that leads to bud para-, eco- and endodormancy. In Arabidopsis buds that are entering eco- or paradormancy, we have identified four induced interrelated GRNs that correspond to a carbon (C) starvation syndrome, typical of tissues undergoing low C supply. This response is also detectable in poplar and grapevine buds before and during the transition to dormancy. In all eukaryotes, C-limiting conditions are coupled to growth arrest and latency like that observed in dormant axillary buds. Bud dormancy might thus be partly a consequence of the underlying C starvation syndrome

  6. A Conserved Carbon Starvation Response Underlies Bud Dormancy in Woody and Herbaceous Species

    Directory of Open Access Journals (Sweden)

    Carlos Tarancón

    2017-05-01

    Full Text Available Plant shoot systems give rise to characteristic above-ground plant architectures. Shoots are formed from axillary meristems and buds, whose growth and development is modulated by systemic and local signals. These cues convey information about nutrient and water availability, light quality, sink/source organ activity and other variables that determine the timeliness and competence to maintain development of new shoots. This information is translated into a local response, in meristems and buds, of growth or quiescence. Although some key genes involved in the onset of bud latency have been identified, the gene regulatory networks (GRNs controlled by these genes are not well defined. Moreover, it has not been determined whether bud dormancy induced by environmental cues, such as a low red-to-far-red light ratio, shares genetic mechanisms with bud latency induced by other causes, such as apical dominance or a short-day photoperiod. Furthermore, the evolution and conservation of these GRNs throughout angiosperms is not well established. We have reanalyzed public transcriptomic datasets that compare quiescent and active axillary buds of Arabidopsis, with datasets of axillary buds of the woody species Vitis vinifera (grapevine and apical buds of Populus tremula x Populus alba (poplar during the bud growth-to-dormancy transition. Our aim was to identify potentially common GRNs induced during the process that leads to bud para-, eco- and endodormancy. In Arabidopsis buds that are entering eco- or paradormancy, we have identified four induced interrelated GRNs that correspond to a carbon (C starvation syndrome, typical of tissues undergoing low C supply. This response is also detectable in poplar and grapevine buds before and during the transition to dormancy. In all eukaryotes, C-limiting conditions are coupled to growth arrest and latency like that observed in dormant axillary buds. Bud dormancy might thus be partly a consequence of the underlying C

  7. Organic Matter Responses to Radiation under Lunar Conditions.

    Science.gov (United States)

    Matthewman, Richard; Crawford, Ian A; Jones, Adrian P; Joy, Katherine H; Sephton, Mark A

    2016-11-01

    Large bodies, such as the Moon, that have remained relatively unaltered for long periods of time have the potential to preserve a record of organic chemical processes from early in the history of the Solar System. A record of volatiles and impactors may be preserved in buried lunar regolith layers that have been capped by protective lava flows. Of particular interest is the possible preservation of prebiotic organic materials delivered by ejected fragments of other bodies, including those originating from the surface of early Earth. Lava flow layers would shield the underlying regolith and any carbon-bearing materials within them from most of the effects of space weathering, but the encapsulated organic materials would still be subject to irradiation before they were buried by regolith formation and capped with lava. We have performed a study to simulate the effects of solar radiation on a variety of organic materials mixed with lunar and meteorite analog substrates. A fluence of ∼3 × 10 13 protons cm -2 at 4-13 MeV, intended to be representative of solar energetic particles, has little detectable effect on low-molecular-weight (≤C 30 ) hydrocarbon structures that can be used to indicate biological activity (biomarkers) or the high-molecular-weight hydrocarbon polymer poly(styrene-co-divinylbenzene), and has little apparent effect on a selection of amino acids (≤C 9 ). Inevitably, more lengthy durations of exposure to solar energetic particles may have more deleterious effects, and rapid burial and encapsulation will always be more favorable to organic preservation. Our data indicate that biomarker compounds that may be used to infer biological activity on their parent planet can be relatively resistant to the effects of radiation and may have a high preservation potential in paleoregolith layers on the Moon. Key Words: Radiation-Moon-Regolith-Amino acids-Biomarkers. Astrobiology 16, 900-912.

  8. Organic Matter Responses to Radiation under Lunar Conditions

    Science.gov (United States)

    Matthewman, Richard; Crawford, Ian A.; Jones, Adrian P.; Joy, Katherine H.; Sephton, Mark A.

    2016-11-01

    Large bodies, such as the Moon, that have remained relatively unaltered for long periods of time have the potential to preserve a record of organic chemical processes from early in the history of the Solar System. A record of volatiles and impactors may be preserved in buried lunar regolith layers that have been capped by protective lava flows. Of particular interest is the possible preservation of prebiotic organic materials delivered by ejected fragments of other bodies, including those originating from the surface of early Earth. Lava flow layers would shield the underlying regolith and any carbon-bearing materials within them from most of the effects of space weathering, but the encapsulated organic materials would still be subject to irradiation before they were buried by regolith formation and capped with lava. We have performed a study to simulate the effects of solar radiation on a variety of organic materials mixed with lunar and meteorite analog substrates. A fluence of ˜3 × 1013 protons cm-2 at 4-13 MeV, intended to be representative of solar energetic particles, has little detectable effect on low-molecular-weight (≤C30) hydrocarbon structures that can be used to indicate biological activity (biomarkers) or the high-molecular-weight hydrocarbon polymer poly(styrene-co-divinylbenzene), and has little apparent effect on a selection of amino acids (≤C9). Inevitably, more lengthy durations of exposure to solar energetic particles may have more deleterious effects, and rapid burial and encapsulation will always be more favorable to organic preservation. Our data indicate that biomarker compounds that may be used to infer biological activity on their parent planet can be relatively resistant to the effects of radiation and may have a high preservation potential in paleoregolith layers on the Moon.

  9. Genetic diversity of Vietnamese lowland rice germplasms as revealed by SSR markers in relation to seedling vigour under submergence

    Directory of Open Access Journals (Sweden)

    Hien Thi Thu Vu

    2016-01-01

    Full Text Available In the direct-seeding rice cultivation system, seedling vigour is one of the most important traits for stable stand establishment during early seedling stages, particularly under submergence that is caused by temporal flash flood. We studied the genetic diversity in a set of 40 Vietnamese lowland rice varieties using 30 simple sequence repeat (SSR markers covering all rice chromosomes. A total of 111 alleles were detected, with a mean of 3.7 alleles per locus. The number of polymorphic alleles detected by each SSR marker ranged from 2 to 6. The fragment size of a given SSR locus varied between 85 and 650 bp and the frequency of a major allele at each locus ranged from 32.5% to 76.9%. Polymorphism information content value varied from 0.355 to 0.774 with an average of 0.594. The genetic similarity calculated between pairs of rice varieties ranged from 0.03 to 0.97 with an average of 0.27. According to a constructed dendrogram of unweighted pair group method with arithmetic mean based on the SSR marker analysis, the tested rice varieties were clustered into two major groups consisting of five subgroups. Significant correlations existed between the mean genetic similarity and the mean seedling vigour estimated by shoot length under submergence among the tested varieties. Our results suggested usefulness of the SSR marker system to assess genetic diversity in Vietnamese rice germplasms in relation to their seedling vigour under submergence.

  10. Genetic dissection of photoperiod response based on GWAS of pre-anthesis phase duration in spring barley.

    Directory of Open Access Journals (Sweden)

    Ahmad M Alqudah

    Full Text Available Heading time is a complex trait, and natural variation in photoperiod responses is a major factor controlling time to heading, adaptation and grain yield. In barley, previous heading time studies have been mainly conducted under field conditions to measure total days to heading. We followed a novel approach and studied the natural variation of time to heading in a world-wide spring barley collection (218 accessions, comprising of 95 photoperiod-sensitive (Ppd-H1 and 123 accessions with reduced photoperiod sensitivity (ppd-H1 to long-day (LD through dissecting pre-anthesis development into four major stages and sub-phases. The study was conducted under greenhouse (GH conditions (LD; 16/8 h; ∼20/∼16°C day/night. Genotyping was performed using a genome-wide high density 9K single nucleotide polymorphisms (SNPs chip which assayed 7842 SNPs. We used the barley physical map to identify candidate genes underlying genome-wide association scans (GWAS. GWAS for pre-anthesis stages/sub-phases in each photoperiod group provided great power for partitioning genetic effects on floral initiation and heading time. In addition to major genes known to regulate heading time under field conditions, several novel QTL with medium to high effects, including new QTL having major effects on developmental stages/sub-phases were found to be associated in this study. For example, highly associated SNPs tagged the physical regions around HvCO1 (barley CONSTANS1 and BFL (BARLEY FLORICAULA/LEAFY genes. Based upon our GWAS analysis, we propose a new genetic network model for each photoperiod group, which includes several newly identified genes, such as several HvCO-like genes, belonging to different heading time pathways in barley.

  11. Regulation of the Th1 immune response : the role of IL-23 and the influence of genetic variations

    NARCIS (Netherlands)

    Wetering, Diederik van de

    2010-01-01

    Part 1: The role of IL-23 in inducing IFN-g production and in the initiation of a Th1 response. Part 2: Genetic variations in the type-1 cytokine pathway. Part 3: Treatment options for a genetic deficiency in the type-1 cytokine pathway

  12. Estimating host genetic effects on susceptibility and infectivity to infectious diseases and their contribution to response to selection

    NARCIS (Netherlands)

    Anche, M.T.

    2016-01-01

    Mahlet Teka Anche. (2016). Estimating host genetic effects on susceptibility and infectivity to infectious diseases and their contribution to response to selection. PhD thesis, Wageningen University, the Netherlands

    Genetic approaches aiming to reduce the prevalence of an infection in a

  13. Direct multitrait selection realizes the highest genetic response for ratio traits.

    Science.gov (United States)

    Zetouni, L; Henryon, M; Kargo, M; Lassen, J

    2017-05-01

    For a number of traits the phenotype considered to be the goal trait is a combination of 2 or more traits, like methane (CH) emission (CH/kg of milk). Direct selection on CH4 emission defined as a ratio is problematic, because it is uncertain whether the improvement comes from an improvement in milk yield, a decrease in CH emission or both. The goal was to test different strategies on selecting for 2 antagonistic traits- improving milk yield while decreasing methane emissions. The hypothesis was that to maximize genetic gain for a ratio trait, the best approach is to select directly for the component traits rather than using a ratio trait or a trait where 1 trait is corrected for the other as the selection criteria. Stochastic simulation was used to mimic a dairy cattle population. Three scenarios were tested, which differed in selection criteria but all selecting for increased milk yield: 1) selection based on a multitrait approach using the correlation structure between the 2 traits, 2) the ratio of methane to milk and 3) gross methane phenotypically corrected for milk. Four correlation sets were tested in all scenarios, to access robustness of the results. An average genetic gain of 66 kg of milk per yr was obtained in all scenarios, but scenario 1 had the best response for decreased methane emissions, with a genetic gain of 24.8 l/yr, while scenarios 2 and 3 had genetic gains of 27.1 and 27.3 kg/yr. The results found were persistent across correlation sets. These results confirm the hypothesis that to obtain the highest genetic gain a multitrait selection is a better approach than selecting for the ratio directly. The results are exemplified for a methane and milk scenario but can be generalized to other situations where combined traits need to be improved.

  14. Electromagnetic Transient Response Analysis of DFIG under Cascading Grid Faults Considering Phase Angel Jumps

    DEFF Research Database (Denmark)

    Wang, Yun; Wu, Qiuwei

    2014-01-01

    This paper analysis the electromagnetic transient response characteristics of DFIG under symmetrical and asymmetrical cascading grid fault conditions considering phaseangel jump of grid. On deriving the dynamic equations of the DFIG with considering multiple constraints on balanced and unbalanced...... conditions, phase angel jumps, interval of cascading fault, electromagnetic transient characteristics, the principle of the DFIG response under cascading voltage fault can be extract. The influence of grid angel jump on the transient characteristic of DFIG is analyzed and electromagnetic response...

  15. The Adaptive Significance of Natural Genetic Variation in the DNA Damage Response of Drosophila melanogaster.

    Science.gov (United States)

    Svetec, Nicolas; Cridland, Julie M; Zhao, Li; Begun, David J

    2016-03-01

    Despite decades of work, our understanding of the distribution of fitness effects of segregating genetic variants in natural populations remains largely incomplete. One form of selection that can maintain genetic variation is spatially varying selection, such as that leading to latitudinal clines. While the introduction of population genomic approaches to understanding spatially varying selection has generated much excitement, little successful effort has been devoted to moving beyond genome scans for selection to experimental analysis of the relevant biology and the development of experimentally motivated hypotheses regarding the agents of selection; it remains an interesting question as to whether the vast majority of population genomic work will lead to satisfying biological insights. Here, motivated by population genomic results, we investigate how spatially varying selection in the genetic model system, Drosophila melanogaster, has led to genetic differences between populations in several components of the DNA damage response. UVB incidence, which is negatively correlated with latitude, is an important agent of DNA damage. We show that sensitivity of early embryos to UVB exposure is strongly correlated with latitude such that low latitude populations show much lower sensitivity to UVB. We then show that lines with lower embryo UVB sensitivity also exhibit increased capacity for repair of damaged sperm DNA by the oocyte. A comparison of the early embryo transcriptome in high and low latitude embryos provides evidence that one mechanism of adaptive DNA repair differences between populations is the greater abundance of DNA repair transcripts in the eggs of low latitude females. Finally, we use population genomic comparisons of high and low latitude samples to reveal evidence that multiple components of the DNA damage response and both coding and non-coding variation likely contribute to adaptive differences in DNA repair between populations.

  16. Ecological genetics of Chinese rhesus macaque in response to mountain building: all things are not equal.

    Directory of Open Access Journals (Sweden)

    Shan-Jin Wu

    Full Text Available Pliocene uplifting of the Qinghai-Tibetan Plateau (QTP and Quaternary glaciation may have impacted the Asian biota more than any other events. Little is documented with respect to how the geological and climatological events influenced speciation as well as spatial and genetic structuring, especially in vertebrate endotherms. Macaca mulatta is the most widely distributed non-human primate. It may be the most suitable model to test hypotheses regarding the genetic consequences of orogenesis on an endotherm.Using a large dataset of maternally inherited mitochondrial DNA gene sequences and nuclear microsatellite DNA data, we discovered two maternal super-haplogroups exist, one in western China and the other in eastern China. M. mulatta formed around 2.31 Ma (1.51-3.15, 95%, and divergence of the two major matrilines was estimated at 1.15 Ma (0.78-1.55, 95%. The western super-haplogroup exhibits significant geographic structure. In contrast, the eastern super-haplogroup has far greater haplotypic variability with little structure based on analyses of six variable microsatellite loci using Structure and Geneland. Analysis using Migrate detected greater gene flow from WEST to EAST than vice versa. We did not detect signals of bottlenecking in most populations.Analyses of the nuclear and mitochondrial datasets obtained large differences in genetic patterns for M. mulatta. The difference likely reflects inheritance mechanisms of the maternally inherited mtDNA genome versus nuclear biparentally inherited STRs and male-mediated gene flow. Dramatic environmental changes may be responsible for shaping the matrilineal history of macaques. The timing of events, the formation of M. mulatta, and the divergence of the super-haplogroups, corresponds to both the uplifting of the QTP and Quaternary climatic oscillations. Orogenesis likely drove divergence of western populations in China, and Pleistocene glaciations are likely responsible for genetic structuring in

  17. Quantitative genetic analysis of responses to larval food limitation in a polyphenic butterfly indicates environment- and trait-specific effects

    NARCIS (Netherlands)

    Saastamoinen, M.; Brommer, J.E.; Brakefield, P.M.; Zwaan, B.J.

    2013-01-01

    Different components of heritability, including genetic variance (VG), are influenced by environmental conditions. Here, we assessed phenotypic responses of life-history traits to two different developmental conditions, temperature and food limitation. The former represents an environment that

  18. Response to Infliximab in Crohn’s Disease: Genetic Analysis Supporting Expression Profile

    Directory of Open Access Journals (Sweden)

    Luz María Medrano

    2015-01-01

    Full Text Available Substantial proportion of Crohn’s disease (CD patients shows no response or a limited response to treatment with infliximab (IFX and to identify biomarkers of response would be of great clinical and economic benefit. The expression profile of five genes (S100A8-S100A9, G0S2, TNFAIP6, and IL11 reportedly predicted response to IFX and we aimed at investigating their etiologic role through genetic association analysis. Patients with active CD (350 who received at least three induction doses of IFX were included and classified according to IFX response. A tagging strategy was used to select genetic polymorphisms that cover the variability present in the chromosomal regions encoding the identified genes with altered expression. Following genotyping, differences between responders and nonresponders to IFX were observed in haplotypes of the studied regions: S100A8-S100A9 (rs11205276*G/rs3014866*C/rs724781*C/rs3006488*A; P=0.05; G0S2 (rs4844486*A/rs1473683*T; P=0.15; TNFAIP6 (rs11677200*C/rs2342910*A/rs3755480*G/rs10432475*A; P=0.10; and IL11 (rs1126760*C/rs1042506*G; P=0.07. These differences were amplified in patients with colonic and ileocolonic location for all but the TNFAIP6 haplotype, which evidenced significant difference in ileal CD patients. Our results support the role of the reported expression signature as predictive of anti-TNF outcome in CD patients and suggest an etiological role of those top-five genes in the IFX response pathway.

  19. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

    Science.gov (United States)

    Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

    2017-12-01

    Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  20. A Shared Genetic Propensity Underlies Experiences of Bullying Victimization in Late Childhood and Self-Rated Paranoid Thinking in Adolescence

    Science.gov (United States)

    Shakoor, Sania; McGuire, Phillip; Cardno, Alastair G.; Freeman, Daniel; Plomin, Robert; Ronald, Angelica

    2015-01-01

    Background: Bullying is a risk factor for developing psychotic experiences (PEs). Whether bullying is associated with particular PEs, and the extent to which genes and environments influence the association, are unknown. This study investigated which specific PEs in adolescence are associated with earlier bullying victimization and the genetic and environmental contributions underlying their association. Method: Participants were 4826 twin pairs from a longitudinal community-based twin study in England and Wales who reported on their bullying victimization at the age of 12 years. Measures of specific PEs (self-rated Paranoia, Hallucinations, Cognitive disorganization, Grandiosity, Anhedonia, and parent-rated Negative Symptoms) were recorded at age of 16 years. Results: Childhood bullying victimization was most strongly associated with Paranoia in adolescence (r = .26; P bullying victimization and Paranoia were both heritable (35% and 52%, respectively) with unique environmental influences (39% and 48%, respectively), and bullying victimization showed common environmental influences (26%). The association between bullying victimization and Paranoia operated almost entirely via genetic influences (bivariate heritability = 93%), with considerable genetic overlap (genetic correlation = .55). Conclusion: In contrast to the assumed role of bullying victimization as an environmental trigger, these data suggest that bullying victimization in late childhood is particularly linked to self-rated Paranoia in adolescence via a shared genetic propensity. Clinically, individuals with a history of bullying victimization are predicted to be particularly susceptible to paranoid symptoms. PMID:25323579

  1. A shared genetic propensity underlies experiences of bullying victimization in late childhood and self-rated paranoid thinking in adolescence.

    Science.gov (United States)

    Shakoor, Sania; McGuire, Phillip; Cardno, Alastair G; Freeman, Daniel; Plomin, Robert; Ronald, Angelica

    2015-05-01

    Bullying is a risk factor for developing psychotic experiences (PEs). Whether bullying is associated with particular PEs, and the extent to which genes and environments influence the association, are unknown. This study investigated which specific PEs in adolescence are associated with earlier bullying victimization and the genetic and environmental contributions underlying their association. Participants were 4826 twin pairs from a longitudinal community-based twin study in England and Wales who reported on their bullying victimization at the age of 12 years. Measures of specific PEs (self-rated Paranoia, Hallucinations, Cognitive disorganization, Grandiosity, Anhedonia, and parent-rated Negative Symptoms) were recorded at age of 16 years. Childhood bullying victimization was most strongly associated with Paranoia in adolescence (r = .26; P bullying victimization and Paranoia were both heritable (35% and 52%, respectively) with unique environmental influences (39% and 48%, respectively), and bullying victimization showed common environmental influences (26%). The association between bullying victimization and Paranoia operated almost entirely via genetic influences (bivariate heritability = 93%), with considerable genetic overlap (genetic correlation = .55). In contrast to the assumed role of bullying victimization as an environmental trigger, these data suggest that bullying victimization in late childhood is particularly linked to self-rated Paranoia in adolescence via a shared genetic propensity. Clinically, individuals with a history of bullying victimization are predicted to be particularly susceptible to paranoid symptoms. © The Author 2014. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.

  2. Persistency of Prediction Accuracy and Genetic Gain in Synthetic Populations Under Recurrent Genomic Selection.

    Science.gov (United States)

    Müller, Dominik; Schopp, Pascal; Melchinger, Albrecht E

    2017-03-10

    Recurrent selection (RS) has been used in plant breeding to successively improve synthetic and other multiparental populations. Synthetics are generated from a limited number of parents [Formula: see text] but little is known about how [Formula: see text] affects genomic selection (GS) in RS, especially the persistency of prediction accuracy ([Formula: see text]) and genetic gain. Synthetics were simulated by intermating [Formula: see text]= 2-32 parent lines from an ancestral population with short- or long-range linkage disequilibrium ([Formula: see text]) and subjected to multiple cycles of GS. We determined [Formula: see text] and genetic gain across 30 cycles for different training set ( TS ) sizes, marker densities, and generations of recombination before model training. Contributions to [Formula: see text] and genetic gain from pedigree relationships, as well as from cosegregation and [Formula: see text] between QTL and markers, were analyzed via four scenarios differing in (i) the relatedness between TS and selection candidates and (ii) whether selection was based on markers or pedigree records. Persistency of [Formula: see text] was high for small [Formula: see text] where predominantly cosegregation contributed to [Formula: see text], but also for large [Formula: see text] where [Formula: see text] replaced cosegregation as the dominant information source. Together with increasing genetic variance, this compensation resulted in relatively constant long- and short-term genetic gain for increasing [Formula: see text] > 4, given long-range LD A in the ancestral population. Although our scenarios suggest that information from pedigree relationships contributed to [Formula: see text] for only very few generations in GS, we expect a longer contribution than in pedigree BLUP, because capturing Mendelian sampling by markers reduces selective pressure on pedigree relationships. Larger TS size ([Formula: see text]) and higher marker density improved persistency of

  3. Persistency of Prediction Accuracy and Genetic Gain in Synthetic Populations Under Recurrent Genomic Selection

    Directory of Open Access Journals (Sweden)

    Dominik Müller

    2017-03-01

    Full Text Available Recurrent selection (RS has been used in plant breeding to successively improve synthetic and other multiparental populations. Synthetics are generated from a limited number of parents ( Np , but little is known about how Np affects genomic selection (GS in RS, especially the persistency of prediction accuracy (rg , g ^ and genetic gain. Synthetics were simulated by intermating Np= 2–32 parent lines from an ancestral population with short- or long-range linkage disequilibrium (LDA and subjected to multiple cycles of GS. We determined rg , g ^ and genetic gain across 30 cycles for different training set (TS sizes, marker densities, and generations of recombination before model training. Contributions to rg , g ^ and genetic gain from pedigree relationships, as well as from cosegregation and LDA between QTL and markers, were analyzed via four scenarios differing in (i the relatedness between TS and selection candidates and (ii whether selection was based on markers or pedigree records. Persistency of rg , g ^ was high for small Np , where predominantly cosegregation contributed to rg , g ^ , but also for large Np , where LDA replaced cosegregation as the dominant information source. Together with increasing genetic variance, this compensation resulted in relatively constant long- and short-term genetic gain for increasing Np > 4, given long-range LDA in the ancestral population. Although our scenarios suggest that information from pedigree relationships contributed to rg , g ^ for only very few generations in GS, we expect a longer contribution than in pedigree BLUP, because capturing Mendelian sampling by markers reduces selective pressure on pedigree relationships. Larger TS size (NTS and higher marker density improved persistency of rg , g ^ and hence genetic gain, but additional recombinations could not increase genetic gain.

  4. MODEL-ASSISTED ESTIMATION OF THE GENETIC VARIABILITY IN PHYSIOLOGICAL PARAMETERS RELATED TO TOMATO FRUIT GROWTH UNDER CONTRASTED WATER CONDITIONS

    Directory of Open Access Journals (Sweden)

    Dario Constantinescu

    2016-12-01

    Full Text Available Drought stress is a major abiotic stres threatening plant and crop productivity. In case of fleshy fruits, understanding Drought stress is a major abiotic stress threatening plant and crop productivity. In case of fleshy fruits, understanding mechanisms governing water and carbon accumulations and identifying genes, QTLs and phenotypes, that will enable trade-offs between fruit growth and quality under Water Deficit (WD condition is a crucial challenge for breeders and growers. In the present work, 117 recombinant inbred lines of a population of Solanum lycopersicum were phenotyped under control and WD conditions. Plant water status, fruit growth and composition were measured and data were used to calibrate a process-based model describing water and carbon fluxes in a growing fruit as a function of plant and environment. Eight genotype-dependent model parameters were estimated using a multiobjective evolutionary algorithm in order to minimize the prediction errors of fruit dry and fresh mass throughout fruit development. WD increased the fruit dry matter content (up to 85 % and decreased its fresh weight (up to 60 %, big fruit size genotypes being the most sensitive. The mean normalized root mean squared errors of the predictions ranged between 16-18 % in the population. Variability in model genotypic parameters allowed us to explore diverse genetic strategies in response to WD. An interesting group of genotypes could be discriminated in which i the low loss of fresh mass under WD was associated with high active uptake of sugars and low value of the maximum cell wall extensibility, and ii the high dry matter content in control treatment (C was associated with a slow decrease of mass flow. Using 501 SNP markers genotyped across the genome, a QTL analysis of model parameters allowed to detect three main QTLs related to xylem and phloem conductivities, on chromosomes 2, 4 and 8. The model was then applied to design ideotypes with high dry matter

  5. Response to enemies in the invasive plant Lythrum salicaria is genetically determined

    Science.gov (United States)

    Joshi, Srijana; Tielbörger, Katja

    2012-01-01

    Background and Aims The enemy release hypothesis assumes that invasive plants lose their co-evolved natural enemies during introduction into the new range. This study tested, as proposed by the evolution of increased competitive ability (EICA) hypothesis, whether escape from enemies results in a decrease in defence ability in plants from the invaded range. Two straightforward aspects of the EICA are examined: (1) if invasives have lost their enemies and their defence, they should be more negatively affected by their full natural pre-invasion herbivore spectrum than their native conspecifics; and (2) the genetic basis of evolutionary change in response to enemy release in the invasive range has not been taken sufficiently into account. Methods Lythrum salicaria (purple loosestrife) from several populations in its native (Europe) and invasive range (North America) was exposed to all above-ground herbivores in replicated natural populations in the native range. The experiment was performed both with plants raised from field-collected seeds as well as with offspring of these where maternal effects were removed. Key Results Absolute and relative leaf damage was higher for introduced than for native plants. Despite having smaller height growth rate, invasive plants attained a much larger final size than natives irrespective of damage, indicating large tolerance rather than effective defence. Origin effects on response to herbivory and growth were stronger in second-generation plants, suggesting that invasive potential through enemy release has a genetic basis. Conclusions The findings support two predictions of the EICA hypothesis – a genetically determined difference between native and invasive plants in plant vigour and response to enemies – and point to the importance of experiments that control for maternal effects and include the entire spectrum of native range enemies. PMID:22492331

  6. Physiological basis of genetic variation in leaf photosynthesis among rice (Oryza sativa L.) introgression lines under drought and well-watered conditions

    Science.gov (United States)

    Yin, Xinyou

    2012-01-01

    To understand the physiological basis of genetic variation and resulting quantitative trait loci (QTLs) for photosynthesis in a rice (Oryza sativa L.) introgression line population, 13 lines were studied under drought and well-watered conditions, at flowering and grain filling. Simultaneous gas exchange and chlorophyll fluorescence measurements were conducted at various levels of incident irradiance and ambient CO2 to estimate parameters of a model that dissects photosynthesis into stomatal conductance (g s), mesophyll conductance (g m), electron transport capacity (J max), and Rubisco carboxylation capacity (V cmax). Significant genetic variation in these parameters was found, although drought and leaf age accounted for larger proportions of the total variation. Genetic variation in light-saturated photosynthesis and transpiration efficiency (TE) were mainly associated with variation in g s and g m. One previously mapped major QTL of photosynthesis was associated with variation in g s and g m, but also in J max and V cmax at flowering. Thus, g s and g m, which were demonstrated in the literature to be responsible for environmental variation in photosynthesis, were found also to be associated with genetic variation in photosynthesis. Furthermore, relationships between these parameters and leaf nitrogen or dry matter per unit area, which were previously found across environmental treatments, were shown to be valid for variation across genotypes. Finally, the extent to which photosynthesis rate and TE can be improved was evaluated. Virtual ideotypes were estimated to have 17.0% higher photosynthesis and 25.1% higher TE compared with the best genotype investigated. This analysis using introgression lines highlights possibilities of improving both photosynthesis and TE within the same genetic background. PMID:22888131

  7. Advancing induced pluripotent stem cell (iPSC) technology by assessing genetic instability and immune response

    OpenAIRE

    Requena Osete, Jordi

    2017-01-01

    [eng] Induced pluripotent stem cells (iPSC) can be made from adult somatic cells by reprogramming them with Oct4, Sox2, Klf4 and c-Myc. IPSC have given rise to a new technology to study and treat human disease (Takahashi et al., 2007). However, before iPSC clinical application, we need to step back and address two main challenges: (i) Genetic stability of iPSC. (ii) Immune response of iPSC-derived cells. To address these key issues, the overall mission of this PhD thesis is to adva...

  8. Dose response behaviour of water scarcity towards genetical and morphological traits in spring wheat

    International Nuclear Information System (INIS)

    Noorkha, I.R.; Tabasum, S.

    2015-01-01

    Combining ability was studied in a Line * Tester mating fashion in wheat (Tricticum aestivum L.). Significant differences were observed for all the yield and yield contributing traits. GCA and SCA components of variation were found significant for most of the traits. Under water stressed conditions among lines the genotype Kohistan-97 revealed significant GCA effects for all the traits except spike length. Among testers, the genotype V08172 showed significant effects for the traits spike length, 1000-grain weight and flag leaf area. Based on desirable SCA effects and mean performance the cross combinations Kohistan-97 * V08172, Chakwal-86 * Punjab-81, Fsd-2008 * Punjab-81, Sehar-2006 * V08172 and Chakwal-86 * V08172 behaved best combiner to tolerate the water stress. Results of genetic analysis offered over dominance type of gene action that remained unchanged with the change in water provision for the traits like 1000 grain weight and economic yield. Similarly additive gene action was observed for the trait plant height under both normal irrigation and water stress conditions. However the cumulative genetic effects to control the expression of yield and yield components was shifted due to the changed environments. The study was concluded that due to presence of additive variance, selection could be practiced in early generation whereas in the presence of recessiveness the selection may be delayed up to the later generations. Plant traits associated with water stress tolerance having high heritability and with additive gene action may be used as indirect selection criteria for early selection of water stress tolerant genotypes. The information generated as a result of this study on genetic analysis of important economic traits of wheat under contrasting water availability positions will be of great value to the wheat breeders to design future breeding programmes. (author)

  9. Divergent selection on intramuscular fat in rabbits: Responses to selection and genetic parameters.

    Science.gov (United States)

    Martínez-Álvaro, M; Hernández, P; Blasco, A

    2016-12-01

    A divergent selection experiment on intramuscular fat (IMF) was performed in rabbits. The aim of this study is to estimate the response to selection, the correlated responses in carcass and meat quality traits, and their genetic parameters. Selection criterion was the averaged phenotypic value of IMF measured at 9 wk of age in 2 full-sibs of the candidate. Traits considered were IMF, BW, chilled carcass weight, reference carcass weight, scapular and perirenal fat weights, carcass and meat color, pH, protein and fatty acid composition of meat. Total direct response to selection for IMF was 2.6 phenotypic SD of the trait, around 5% of the mean (1.09 g/100 g) per generation, with both lines following a symmetrical trend. Heritability of IMF was high (0.54), and in general, all traits related to carcass fat depots and IMF fatty acid composition showed high heritabilities (dissectible fat of the carcass, 0.70; MUFA percentage, 0.61; PUFA percentage, 0.45; and PUFA:SFA ratio, 0.42), except SFA percentage (0.09). The other carcass and meat quality traits showed moderate to low heritabilities. Intramuscular fat and dissectible fat percentage showed a low genetic correlation (0.34). Intramuscular fat was positively correlated with MUFA percentage (0.95) and negatively correlated with PUFA percentage (-0.89) and PUFA:SFA ratio (-0.98), corroborated with high correlated responses to selection. The rest of the traits did not show any substantial correlated response except protein content, which was greater in the high-IMF line than in the low-IMF line.

  10. Genetic structure along an elevational gradient in Hawaiian honeycreepers reveals contrasting evolutionary responses to avian malaria

    Science.gov (United States)

    Eggert, L.S.; Terwilliger, L.A.; Woodworth, B.L.; Hart, P.J.; Palmer, D.; Fleischer, R.C.

    2008-01-01

    Background. The Hawaiian honeycreepers (Drepanidinae) are one of the best-known examples of an adaptive radiation, but their persistence today is threatened by the introduction of exotic pathogens and their vector, the mosquito Culex quinquefasciatus. Historically, species such as the amakihi (Hemignathus virens), the apapane (Himatione sanguinea), and the iiwi (Vestiaria coccinea) were found from the coastal lowlands to the high elevation forests, but by the late 1800's they had become extremely rare in habitats below 900 m. Recently, however, populations of amakihi and apapane have been observed in low elevation habitats. We used twelve polymorphic microsatellite loci to investigate patterns of genetic structure, and to infer responses of these species to introduced avian malaria along an elevational gradient on the eastern flanks of Mauna Loa and Kilauea volcanoes on the island of Hawaii. Results. Our results indicate that amakihi have genetically distinct, spatially structured populations that correspond with altitude. We detected very few apapane and no iiwi in low-elevation habitats, and genetic results reveal only minimal differentiation between populations at different altitudes in either of these species. Conclusion. Our results suggest that amakihi populations in low elevation habitats have not been recolonized by individuals from mid or high elevation refuges. After generations of strong selection for pathogen resistance, these populations have rebounded and amakihi have become common in regions in which they were previously rare or absent. ?? 2008 Eggert et al; licensee BioMed Central Ltd.

  11. Genetic structure along an elevational gradient in Hawaiian honeycreepers reveals contrasting evolutionary responses to avian malaria

    Directory of Open Access Journals (Sweden)

    Hart Patrick J

    2008-11-01

    Full Text Available Abstract Background The Hawaiian honeycreepers (Drepanidinae are one of the best-known examples of an adaptive radiation, but their persistence today is threatened by the introduction of exotic pathogens and their vector, the mosquito Culex quinquefasciatus. Historically, species such as the amakihi (Hemignathus virens, the apapane (Himatione sanguinea, and the iiwi (Vestiaria coccinea were found from the coastal lowlands to the high elevation forests, but by the late 1800's they had become extremely rare in habitats below 900 m. Recently, however, populations of amakihi and apapane have been observed in low elevation habitats. We used twelve polymorphic microsatellite loci to investigate patterns of genetic structure, and to infer responses of these species to introduced avian malaria along an elevational gradient on the eastern flanks of Mauna Loa and Kilauea volcanoes on the island of Hawaii. Results Our results indicate that amakihi have genetically distinct, spatially structured populations that correspond with altitude. We detected very few apapane and no iiwi in low-elevation habitats, and genetic results reveal only minimal differentiation between populations at different altitudes in either of these species. Conclusion Our results suggest that amakihi populations in low elevation habitats have not been recolonized by individuals from mid or high elevation refuges. After generations of strong selection for pathogen resistance, these populations have rebounded and amakihi have become common in regions in which they were previously rare or absent.

  12. Evaluation of the Genetic Response of U937 and Jurkat Cells to 10-Nanosecond Electrical Pulses (nsEP.

    Directory of Open Access Journals (Sweden)

    Caleb C Roth

    Full Text Available Nanosecond electrical pulse (nsEP exposure activates signaling pathways, produces oxidative stress, stimulates hormone secretion, causes cell swelling and induces apoptotic and necrotic death. The underlying biophysical connection(s between these diverse cellular reactions and nsEP has yet to be elucidated. Using global genetic analysis, we evaluated how two commonly studied cell types, U937 and Jurkat, respond to nsEP exposure. We hypothesized that by studying the genetic response of the cells following exposure, we would gain direct insight into the stresses experienced by the cell and in turn better understand the biophysical interaction taking place during the exposure. Using Ingenuity Systems software, we found genes associated with cell growth, movement and development to be significantly up-regulated in both cell types 4 h post exposure to nsEP. In agreement with our hypothesis, we also found that both cell lines exhibit significant biological changes consistent with mechanical stress induction. These results advance nsEP research by providing strong evidence that the interaction of nsEPs with cells involves mechanical stress.

  13. A Behavioral Genetic Model of the Mechanisms Underlying the Link Between Obesity and Symptoms of ADHD.

    Science.gov (United States)

    Patte, Karen A; Davis, Caroline A; Levitan, Robert D; Kaplan, Allan S; Carter-Major, Jacqueline; Kennedy, James L

    2016-01-21

    The ADHD-obesity link has been suggested to result from a shared underlying basis of suboptimal dopamine (DA); however, this theory conflicts evidence that an amplified DA signal increases the risk for overeating and weight gain. A model was tested in which ADHD symptoms, predicted by hypodopaminergic functioning in the prefrontal cortex, in combination with an enhanced appetitive drive, predict hedonic eating and, in turn, higher body mass index (BMI). DRD2 and DRD4 markers were genotyped. The model was tested using structural equation modeling in a nonclinical sample (N = 421 adults). The model was a good fit to the data. Controlling for education, all parameter estimates were significant, except for the DRD4-ADHD symptom pathway. The significant indirect effect indicates that overeating mediated the ADHD symptoms-BMI association. Results support the hypothesis that overeating and elevated DA in the ventral striatum-representative of a greater reward response-contribute to the ADHD symptom-obesity relationship. © The Author(s) 2016.

  14. Genetics of dwarfness in induced mutants of hexaploid triticale and its response to exogenous GA3

    International Nuclear Information System (INIS)

    Reddy, V.D.; Reddy, G.M.

    1991-01-01

    Genetics of dwarfism in two induced mutant (d 1 and d 2 ) of hexaploid triticale, DTS 330, revealed that this trait is governed by single recessive gene. Both d 1 and d 2 were allelic to each other and d 1 was dominant over d 2 . Both d 1 , d 2 and their F 1 showed no response to exogenous GA 3 , whereas, DTS 330, d 1 x DTS 330 and d 2 x DTS 330 were responsive. The endogenous levels of GA 3 were more in the dwarf mutants than control, suggesting that dwarfness in these may be due to a partial block in the GA utilizing mechanism, rather than a block in GA biosynthesis. (author). 5 refs., 2 tabs

  15. Genetic influence on disease course and cytokine response in relapsing experimental allergic encephalomyelitis

    DEFF Research Database (Denmark)

    Kjellén, P; Issazadeh-Navikas, Shohreh; Olsson, T

    1998-01-01

    A protracted and relapsing form of experimental allergic encephalomyelitis (EAE) develops in the DA rat after immunization with rat spinal cord homogenate (SCH) emulsified in incomplete Freund's adjuvant (IFA). The genetic influence on this model has been analyzed by immunizing MHC congenic strains...... developed a severe EAE while surprisingly no signs of disease were observed in the DXEA strain, which shares the MHC region with the DXEB strain, after immunization with the MBP 63-87 peptide. Resistance to relapsing EAE in the DXEA strain correlated with increased non-MHC controlled expression for TGF......-beta and lack of IFN-gamma in the spinal cord. The same pattern of cytokine expression was seen in splenocytes after stimulation in vitro with the MBP 63-87 peptide. A spreading of the immune response to the MBP 87-110 peptide was seen. Non-MHC genes controlled the quality of this response: splenocytes from MBP...

  16. Brief Communication: Quantitative- and molecular-genetic differentiation in humans and chimpanzees: implications for the evolutionary processes underlying cranial diversification.

    Science.gov (United States)

    Weaver, Timothy D

    2014-08-01

    Estimates of the amount of genetic differentiation in humans among major geographic regions (e.g., Eastern Asia vs. Europe) from quantitative-genetic analyses of cranial measurements closely match those from classical- and molecular-genetic markers. Typically, among-region differences account for ∼10% of the total variation. This correspondence is generally interpreted as evidence for the importance of neutral evolutionary processes (e.g., genetic drift) in generating among-region differences in human cranial form, but it was initially surprising because human cranial diversity was frequently assumed to show a strong signature of natural selection. Is the human degree of similarity of cranial and DNA-sequence estimates of among-region genetic differentiation unusual? How do comparisons with other taxa illuminate the evolutionary processes underlying cranial diversification? Chimpanzees provide a useful starting point for placing the human results in a broader comparative context, because common chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the extant species most closely related to humans. To address these questions, I used 27 cranial measurements collected on a sample of 861 humans and 263 chimpanzees to estimate the amount of genetic differentiation between pairs of groups (between regions for humans and between species or subspecies for chimpanzees). Consistent with previous results, the human cranial estimates are quite similar to published DNA-sequence estimates. In contrast, the chimpanzee cranial estimates are much smaller than published DNA-sequence estimates. It appears that cranial differentiation has been limited in chimpanzees relative to humans. © 2014 Wiley Periodicals, Inc.

  17. Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

    NARCIS (Netherlands)

    Stein, Evan A.; Dann, Eldad J.; Wiegman, Albert; Skovby, Flemming; Gaudet, Daniel; Sokal, Etienne; Charng, Min-Ji; Mohamed, Mafauzy; Luirink, Ilse; Raichlen, Joel S.; Sundén, Mattias; Carlsson, Stefan C.; Raal, Frederick J.; Kastelein, John J. P.

    2017-01-01

    BACKGROUND Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been

  18. Genetic Factors Underlying the Risk of Thalidomide-Related Neuropathy in Patients With Multiple Myeloma

    NARCIS (Netherlands)

    Johnson, David C.; Corthals, Sophie L.; Walker, Brian A.; Ross, Fiona M.; Gregory, Walter M.; Dickens, Nicholas J.; Lokhorst, Henk M.; Goldschmidt, Hartmut; Davies, Faith E.; Durie, Brian G. M.; Van Ness, Brian; Child, J. Anthony; Sonneveld, Pieter; Morgan, Gareth J.

    2011-01-01

    Purpose To indentify genetic variation that can modulate and predict the risk of developing thalidomide-related peripheral neuropathy (TrPN). Patients and Methods We analyzed DNA from 1,495 patients with multiple myeloma. Using a custom-built single nucleotide polymorphism (SNP) array, we tested the

  19. Genetic and environmental contributions underlying stability in Childhood Obsessive-Compulsive Behavior.

    NARCIS (Netherlands)

    van Grootheest, D.S.; Bartels, M.; Cath, D.C.; Beekman, A.T.F.; Hudziak, J.; Boomsma, D.I.

    2007-01-01

    Background: Little is known about the stability of obsessive-compulsive (OC) behavior during childhood. The objective of this study is to determine the developmental stability of pediatric OC behavior and the genetic and environmental influences on stability in a large population-based twin sample.

  20. Virus-host co-evolution under a modified nuclear genetic code

    Directory of Open Access Journals (Sweden)

    Derek J. Taylor

    2013-03-01

    Full Text Available Among eukaryotes with modified nuclear genetic codes, viruses are unknown. However, here we provide evidence of an RNA virus that infects a fungal host (Scheffersomyces segobiensis with a derived nuclear genetic code where CUG codes for serine. The genomic architecture and phylogeny are consistent with infection by a double-stranded RNA virus of the genus Totivirus. We provide evidence of past or present infection with totiviruses in five species of yeasts with modified genetic codes. All but one of the CUG codons in the viral genome have been eliminated, suggesting that avoidance of the modified codon was important to viral adaptation. Our mass spectroscopy analysis indicates that a congener of the host species has co-opted and expresses a capsid gene from totiviruses as a cellular protein. Viral avoidance of the host’s modified codon and host co-option of a protein from totiviruses suggest that RNA viruses co-evolved with yeasts that underwent a major evolutionary transition from the standard genetic code.

  1. Different genotypes of Trypanosoma cruzi produce distinctive placental environment genetic response in chronic experimental infection

    Science.gov (United States)

    Juiz, Natalia Anahí; Solana, María Elisa; Acevedo, Gonzalo Raúl; Benatar, Alejandro Francisco; Ramirez, Juan Carlos; da Costa, Priscilla Almeida; Macedo, Andrea Mara; Longhi, Silvia Andrea

    2017-01-01

    Congenital infection of Trypanosoma cruzi allows transmission of this parasite through generations. Despite the problematic that this entails, little is known about the placenta environment genetic response produced against infection. We performed functional genomics by microarray analysis in C57Bl/6J mice comparing placentas from uninfected animals and from animals infected with two different T. cruzi strains: K98, a clone of the non-lethal myotropic CA-I strain (TcI), and VD (TcVI), isolated from a human case of congenital infection. Analysis of networks by GeneMANIA of differentially expressed genes showed that “Secretory Granule” was a pathway down-regulated in both infected groups, whereas “Innate Immune Response” and “Response to Interferon-gamma” were pathways up-regulated in VD infection but not in K98. Applying another approach, the GSEA algorithm that detects small changes in predetermined gene sets, we found that metabolic processes, transcription and macromolecular transport were down-regulated in infected placentas environment and some pathways related to cascade signaling had opposite regulation: over-represented in VD and down-regulated in K98 group. We also have found a stronger tropism to the placental organ by VD strain, by detection of parasite DNA and RNA, suggesting living parasites. Our study is the first one to describe in a murine model the genetic response of placental environment to T. cruzi infection and suggests the development of a strong immune response, parasite genotype-dependent, to the detriment of cellular metabolism, which may contribute to control infection preventing the risk of congenital transmission. PMID:28273076

  2. Responses to recipient and donor B cells by genetically donor T cells from human haploidentical chimeras

    International Nuclear Information System (INIS)

    Schiff, S.; Sampson, H.; Buckley, R.

    1986-01-01

    Following administration of haploidentical stem cells to infants with severe combined immunodeficiency (SCID), mature T cells of donor karyotype appear later in the recipient without causing graft-versus-host disease. To investigate the effect of the host environment on the responsiveness of these genetically donor T cells, blood B and T lymphocytes from 6 SCID recipients, their parental donors and unrelated controls were purified by double SRBC rosetting. T cells were stimulated by irradiated B cells at a 1:1 ratio in 6 day cultures. Engrafted T cells of donor karyotype gave much smaller responses to irradiated genetically recipient B cells than did fresh donor T cells. Moreover, engrafted T cells of donor karyotype from two of the three SCIDs who are longest post-transplantation responded more vigorously (14,685 and 31,623 cpm) than fresh donor T cells (5141 and 22,709 cpm) to donor B cells. These data indicate that T lymphocytes which have matured from donor stem cells in the recipient microenvironment behave differently from those that have matured in the donor

  3. Genetic Control of Plasticity in Root Morphology and Anatomy of Rice in Response to Water Deficit.

    Science.gov (United States)

    Kadam, Niteen N; Tamilselvan, Anandhan; Lawas, Lovely M F; Quinones, Cherryl; Bahuguna, Rajeev N; Thomson, Michael J; Dingkuhn, Michael; Muthurajan, Raveendran; Struik, Paul C; Yin, Xinyou; Jagadish, S V Krishna

    2017-08-01

    Elucidating the genetic control of rooting behavior under water-deficit stress is essential to breed climate-robust rice ( Oryza sativa ) cultivars. Using a diverse panel of 274 indica genotypes grown under control and water-deficit conditions during vegetative growth, we phenotyped 35 traits, mostly related to root morphology and anatomy, involving 45,000 root-scanning images and nearly 25,000 cross sections from the root-shoot junction. The phenotypic plasticity of these traits was quantified as the relative change in trait value under water-deficit compared with control conditions. We then carried out a genome-wide association analysis on these traits and their plasticity, using 45,608 high-quality single-nucleotide polymorphisms. One hundred four significant loci were detected for these traits under control conditions, 106 were detected under water-deficit stress, and 76 were detected for trait plasticity. We predicted 296 (control), 284 (water-deficit stress), and 233 (plasticity) a priori candidate genes within linkage disequilibrium blocks for these loci. We identified key a priori candidate genes regulating root growth and development and relevant alleles that, upon validation, can help improve rice adaptation to water-deficit stress. © 2017 American Society of Plant Biologists. All Rights Reserved.

  4. RNA-Seq study reveals genetic responses of diverse wild soybean accessions to increased ozone levels.

    Science.gov (United States)

    Waldeck, Nathan; Burkey, Kent; Carter, Thomas; Dickey, David; Song, Qijian; Taliercio, Earl

    2017-06-29

    Ozone is an air pollutant widely known to cause a decrease in productivity in many plant species, including soybean (Glycine max (L.) Merr). While the response of cultivated soybean to ozone has been studied, very little information is available regarding the ozone response of its wild relatives. Ozone-resistant wild soybean accessions were identified by measuring the response of a genetically diverse group of 66 wild soybean (Glycine soja Zucc. and Sieb.) accessions to elevated ozone levels. RNA-Seq analyses were performed on leaves of different ages from selected ozone-sensitive and ozone-resistant accessions that were subjected to treatment with an environmentally relevant level of ozone. Many more genes responded to elevated ozone in the two ozone-sensitive accessions than in the ozone-resistant accessions. Analyses of the ozone response genes indicated that leaves of different ages responded differently to ozone. Older leaves displayed a consistent reduction in expression of genes involved in photosynthesis in response to ozone, while changes in expression of defense genes dominated younger leaf tissue in response to ozone. As expected, there is a substantial difference between the response of ozone-sensitive and ozone-resistant accessions. Genes associated with photosystem 2 were substantially reduced in expression in response to ozone in the ozone-resistant accessions. A decrease in peptidase inhibitors was one of several responses specific to one of the ozone resistant accessions. The decrease in expression in genes associated with photosynthesis confirms that the photosynthetic apparatus may be an early casualty in response to moderate levels of ozone. A compromise of photosynthesis would substantially impact plant growth and seed production. However, the resistant accessions may preserve their photosynthetic apparatus in response to the ozone levels used in this study. Older leaf tissue of the ozone-resistant accessions showed a unique down-regulation of

  5. 77 FR 44238 - Proposed Administrative Cost Recovery Settlement Under the Comprehensive Environmental Response...

    Science.gov (United States)

    2012-07-27

    ... From the Federal Register Online via the Government Publishing Office ENVIRONMENTAL PROTECTION AGENCY Proposed Administrative Cost Recovery Settlement Under the Comprehensive Environmental Response Compensation and Liability Act, as Amended, Big River Mine Tailings Superfund Site, St. Francois County, MO...

  6. Bring in the genes: genetic-ecophysiological modelling of the adaptive response of trees to environmental change. With application to the annual cycle.

    Directory of Open Access Journals (Sweden)

    Koen eKramer

    2015-01-01

    Full Text Available The observation of strong latitudinal clines in the date of bud burst of tree species indicate that populations of these species are genetically adapted to local environmental conditions. Existing phenological models rarely address this clinal variation, so that adaptive responses of tree populations to changes in environmental conditions are not taken into account, e.g. in models on species distributions that use phenological sub-models. This omission of simulating adaptive response in tree models may over- or underestimate the effects of climate change on tree species distributions, as well as the impacts of climate change on tree growth and productivity.Here, we present an approach to model the adaptive response of traits to environmental change based on an integrated process-based eco-physiological and quantitative genetic model of adaptive traits. Thus, the parameter values of phenological traits are expressed in genetic terms (allele effects and - frequencies, number of loci for individual trees. These individual trees thereby differ in their ability to acquire resources, grow and reproduce as described by the process-based model, leading to differential survival. Differential survival is thus the consequence of both differences in parameters values and their genetic composition. By simulating recombination and dispersal of pollen, the genetic composition of the offspring will differ from that of their parents. Over time, the distribution of both trait values and the frequency of the underlying alleles in the population change as a consequence of changes in environmental drivers leading to adaptation of trees to local environmental conditions.This approach is applied to an individual-tree growth model that includes a phenological model on the annual cycle of trees whose parameters are allowed to adapt. An example of the adaptive response of the onset of the growing season across Europe is presented.

  7. Bring in the genes: genetic-ecophysiological modeling of the adaptive response of trees to environmental change. With application to the annual cycle.

    Science.gov (United States)

    Kramer, Koen; van der Werf, Bert; Schelhaas, Mart-Jan

    2014-01-01

    The observation of strong latitudinal clines in the date of bud burst of tree species indicate that populations of these species are genetically adapted to local environmental conditions. Existing phenological models rarely address this clinal variation, so that adaptive responses of tree populations to changes in environmental conditions are not taken into account, e.g., in models on species distributions that use phenological sub-models. This omission of simulating adaptive response in tree models may over- or underestimate the effects of climate change on tree species distributions, as well as the impacts of climate change on tree growth and productivity. Here, we present an approach to model the adaptive response of traits to environmental change based on an integrated process-based eco-physiological and quantitative genetic model of adaptive traits. Thus, the parameter values of phenological traits are expressed in genetic terms (allele effects and-frequencies, number of loci) for individual trees. These individual trees thereby differ in their ability to acquire resources, grow and reproduce as described by the process-based model, leading to differential survival. Differential survival is thus the consequence of both differences in parameters values and their genetic composition. By simulating recombination and dispersal of pollen, the genetic composition of the offspring will differ from that of their parents. Over time, the distribution of both trait values and the frequency of the underlying alleles in the population change as a consequence of changes in environmental drivers leading to adaptation of trees to local environmental conditions. This approach is applied to an individual-tree growth model that includes a phenological model on the annual cycle of trees whose parameters are allowed to adapt. An example of the adaptive response of the onset of the growing season across Europe is presented.

  8. Shared activity patterns arising at genetic susceptibility loci reveal underlying genomic and cellular architecture of human disease.

    Science.gov (United States)

    Baillie, J Kenneth; Bretherick, Andrew; Haley, Christopher S; Clohisey, Sara; Gray, Alan; Neyton, Lucile P A; Barrett, Jeffrey; Stahl, Eli A; Tenesa, Albert; Andersson, Robin; Brown, J Ben; Faulkner, Geoffrey J; Lizio, Marina; Schaefer, Ulf; Daub, Carsten; Itoh, Masayoshi; Kondo, Naoto; Lassmann, Timo; Kawai, Jun; Mole, Damian; Bajic, Vladimir B; Heutink, Peter; Rehli, Michael; Kawaji, Hideya; Sandelin, Albin; Suzuki, Harukazu; Satsangi, Jack; Wells, Christine A; Hacohen, Nir; Freeman, Thomas C; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Hume, David A

    2018-03-01

    Genetic variants underlying complex traits, including disease susceptibility, are enriched within the transcriptional regulatory elements, promoters and enhancers. There is emerging evidence that regulatory elements associated with particular traits or diseases share similar patterns of transcriptional activity. Accordingly, shared transcriptional activity (coexpression) may help prioritise loci associated with a given trait, and help to identify underlying biological processes. Using cap analysis of gene expression (CAGE) profiles of promoter- and enhancer-derived RNAs across 1824 human samples, we have analysed coexpression of RNAs originating from trait-associated regulatory regions using a novel quantitative method (network density analysis; NDA). For most traits studied, phenotype-associated variants in regulatory regions were linked to tightly-coexpressed networks that are likely to share important functional characteristics. Coexpression provides a new signal, independent of phenotype association, to enable fine mapping of causative variants. The NDA coexpression approach identifies new genetic variants associated with specific traits, including an association between the regulation of the OCT1 cation transporter and genetic variants underlying circulating cholesterol levels. NDA strongly implicates particular cell types and tissues in disease pathogenesis. For example, distinct groupings of disease-associated regulatory regions implicate two distinct biological processes in the pathogenesis of ulcerative colitis; a further two separate processes are implicated in Crohn's disease. Thus, our functional analysis of genetic predisposition to disease defines new distinct disease endotypes. We predict that patients with a preponderance of susceptibility variants in each group are likely to respond differently to pharmacological therapy. Together, these findings enable a deeper biological understanding of the causal basis of complex traits.

  9. Global Climate Change Response Program, Water Yield in Semiarid Environment Under Projected Climate Change

    OpenAIRE

    United States Department of the Interior

    1996-01-01

    This paper presents the practical application of a distributed parameter climate vegetation hydrologic model (CVHM) and its ability to simulate hydrologic response under existing conditions and under assumed CO2-induced climate and vegetation change. Applying the model to the Weber River basin provided a basis for determining the impacts of climate change on the hydrologic response. By using a "what if" scenario this model included the changes in plant transpiration rates and in vegetation ...

  10. DEVELOPMENT OF THE CONCEPT OF CORPORATE SOCIAL RESPONSIBILITY IN TRADE UNDER CONDITIONS OF MARKET GLOBALISATION

    OpenAIRE

    Svetlana Sokolov Mladenovic, Djordje Cuzovic,

    2015-01-01

    Under contemporary business conditions, market globalisation has become inevitable. Such relationships on the market make trade companies use different means to acquire and maintain long-term competitive advantage. One of them is the concept of corporate social responsibility, which is, under conditions of globalisation, seen as a redesign of the classic marketing concept. The aim of this paper is to highlight the development of corporate social responsibility in trade, in the context of mark...

  11. Insulin-like signaling (IIS) responses to temperature, genetic background, and growth variation in garter snakes with divergent life histories.

    Science.gov (United States)

    Reding, Dawn M; Addis, Elizabeth A; Palacios, Maria G; Schwartz, Tonia S; Bronikowski, Anne M

    2016-07-01

    The insulin/insulin-like signaling pathway (IIS) has been shown to mediate life history trade-offs in mammalian model organisms, but the function of this pathway in wild and non-mammalian organisms is understudied. Populations of western terrestrial garter snakes (Thamnophis elegans) around Eagle Lake, California, have evolved variation in growth and maturation rates, mortality senescence rates, and annual reproductive output that partition into two ecotypes: "fast-living" and "slow-living". Thus, genes associated with the IIS network are good candidates for investigating the mechanisms underlying ecological divergence in this system. We reared neonates from each ecotype for 1.5years under two thermal treatments. We then used qPCR to compare mRNA expression levels in three tissue types (brain, liver, skeletal muscle) for four genes (igf1, igf2, igf1r, igf2r), and we used radioimmunoassay to measure plasma IGF-1 and IGF-2 protein levels. Our results show that, in contrast to most mammalian model systems, igf2 mRNA and protein levels exceed those of igf1 and suggest an important role for igf2 in postnatal growth in reptiles. Thermal rearing treatment and recent growth had greater impacts on IGF levels than genetic background (i.e., ecotype), and the two ecotypes responded similarly. This suggests that observed ecotypic differences in field measures of IGFs may more strongly reflect plastic responses in different environments than evolutionary divergence. Future analyses of additional components of the IIS pathway and sequence divergence between the ecotypes will further illuminate how environmental and genetic factors influence the endocrine system and its role in mediating life history trade-offs. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Alcohol response and consumption in adolescent rhesus macaques: life history and genetic influences.

    Science.gov (United States)

    Schwandt, Melanie L; Lindell, Stephen G; Chen, Scott; Higley, J Dee; Suomi, Stephen J; Heilig, Markus; Barr, Christina S

    2010-02-01

    The use of alcohol by adolescents is a growing problem and has become an important research topic in the etiology of the alcohol use disorders. A key component of this research has been the development of animal models of adolescent alcohol consumption and alcohol response. Because of their extended period of adolescence, rhesus macaques are especially well suited for modeling alcohol-related phenotypes that contribute to the adolescent propensity for alcohol consumption. In this review, we discuss studies from our laboratory that have investigated both the initial response to acute alcohol administration and the consumption of alcohol in voluntary self-administration paradigms in adolescent rhesus macaques. These studies confirm that adolescence is a time of dynamic change both behaviorally and physiologically, and that alcohol response and alcohol consumption are influenced by life history variables, such as age, sex, and adverse early experience in the form of peer-rearing. Furthermore, genetic variants that alter functioning of the serotonin, endogenous opioid, and corticotropin-releasing hormone systems are shown to influence both physiological and behavioral outcomes, in some cases interacting with early experience to indicate gene by environment interactions. These findings highlight several of the pathways involved in alcohol response and consumption, namely reward, behavioral dyscontrol, and vulnerability to stress, and demonstrate a role for these pathways during the early stages of alcohol exposure in adolescence. 2010 Elsevier Inc. All rights reserved.

  13. Large-Scale Association Study Confirms Genetic Complexity Underlying Type 2 Diabetes

    OpenAIRE

    Barroso, Inês; Luan, Jian'an; Middelberg, Rita P. S; Harding, Anne-Helen; Franks, Paul W; Jakes, Rupert W; Clayton, David; Schafer, Alan J; O'Rahilly, Stephen; Wareham, Nicholas J

    2003-01-01

    Type 2 diabetes is an increasingly common, serious metabolic disorder with a substantial inherited component. It is characterised by defects in both insulin secretion and action. Progress in identification of specific genetic variants predisposing to the disease has been limited. To complement ongoing positional cloning efforts, we have undertaken a large-scale candidate gene association study. We examined 152 SNPs in 71 candidate genes for association with diabetes status and related phenoty...

  14. Growth response, water relations and K/Na ratio in wheat under ...

    African Journals Online (AJOL)

    Growth response, water relations and K/Na ratio in wheat under sodium and calcium interactions. BH Niazi, B Zaman, M Salim, H Athar. Abstract. A study was conducted in the glass house to observe the role of K/Na ratio and moisture contents on the growth of wheat (Triticum aestivum L .cv. Lu-26) under NaCl stress.

  15. 78 FR 16711 - Notice of Lodging of Proposed Consent Decree Under the Comprehensive Environmental Response...

    Science.gov (United States)

    2013-03-18

    ... lawsuit entitled United States v. John D. Williams, Trustee of the Julia A. Fischer Living Trust, Civil... of the Julia A. Fischer Living Trust, (``Fischer Trust''), under Section 107 of the Comprehensive... certain future costs and response work at the Site under Sections 106 and 107 of CERCLA and Section 7003...

  16. Genetically determined differences in brain response to a primary food reward.

    Science.gov (United States)

    Felsted, Jennifer A; Ren, Xueying; Chouinard-Decorte, Francois; Small, Dana M

    2010-02-17

    Combining genetic and neuroimaging techniques may elucidate the biological underpinnings of individual differences in neurophysiology and potential vulnerabilities to disease. The TaqIA A1 variant is associated with diminished dopamine D(2) receptor density, higher body mass, and food reinforcement. It also moderates the relationship between brain response to food and future weight gain. This suggests that the polymorphism is associated with a fundamental difference in the neurophysiology of food that may predispose toward overeating. An alternative possibility is that factors, such as impulsivity, eating style, reward drive, and perception, which may covary with the polymorphism, influence reward coding and eating behavior. To distinguish between these alternatives, we used functional magnetic resonance imaging to measure neural response to the ingestion of palatable and caloric milkshakes in healthy subjects with (A1+; n = 13) and without (A1-; n = 13) the TaqIA A1 allele. The groups were selected from a larger group to be matched for linked individual factors such as age, gender, education, body mass index, impulsivity, eating style, and perceptual responses to the milkshake. We demonstrate an interaction between genotype (A1+ vs A1-) and stimulus (milkshake vs a tasteless/odorless baseline) in the midbrain, thalamus, and orbital frontal cortex; whereas A1- shows increased responses to milkshake, A1+ shows decreased responses to milkshake relative to baseline. This interaction occurs despite similar ratings of milkshake pleasantness, intensity, and familiarity. We therefore conclude that there is a specific association between the TaqIA A1 polymorphism and brain response during ingestion of a palatable food.

  17. Influence of genetic diversity on cause and effect relationships in lens culinaris germplasm under rain-fed eco-agricultural system

    International Nuclear Information System (INIS)

    Ilyas, M.; Arshad, M.; Ghafoor, A.

    2014-01-01

    Due to emerging demands of organic foods, lentil, one of the most primitive legumes was investigated for genetic diversity including cause and effect relationships among various clusters under eco-agricultural system. The 73 lentil genotypes were investigated for qualitative and quantitative traits to identify the potential lines under rain-fed conditions for organic farming using no chemical fertilizers for crop production. Variation existed for all the qualitative traits including orange cotyledon colour in 27 genotypes which is a preferred trait by Asian consumers including Pakistan. Five clusters revealed that average intra-clusters distances were more or less similar, whereas inter-cluster distance indicated higher level of genetic diversity. First three PCs contributed more than 3/4 of the variability and the results were in coordination with clustering pattern amongst 73 genotypes. The populations contributing the first PC were late in maturity possessed higher number of branches, pods, better biomass and grain yield. The PC/sub 2/ was more contributed by seeds pod-1 and seed diameter, whereas pod length and harvest index contributed 13% variability. The cause and effect relationships indicated differential response for selection of lentil genotypes suitable for eco-agricultural system within each cluster. (author)

  18. Interplay of host genetics and gut microbiota underlying the onset and clinical presentation of inflammatory bowel disease.

    Science.gov (United States)

    Imhann, Floris; Vich Vila, Arnau; Bonder, Marc Jan; Fu, Jingyuan; Gevers, Dirk; Visschedijk, Marijn C; Spekhorst, Lieke M; Alberts, Rudi; Franke, Lude; van Dullemen, Hendrik M; Ter Steege, Rinze W F; Huttenhower, Curtis; Dijkstra, Gerard; Xavier, Ramnik J; Festen, Eleonora A M; Wijmenga, Cisca; Zhernakova, Alexandra; Weersma, Rinse K

    2018-01-01

    Patients with IBD display substantial heterogeneity in clinical characteristics. We hypothesise that individual differences in the complex interaction of the host genome and the gut microbiota can explain the onset and the heterogeneous presentation of IBD. Therefore, we performed a case-control analysis of the gut microbiota, the host genome and the clinical phenotypes of IBD. Stool samples, peripheral blood and extensive phenotype data were collected from 313 patients with IBD and 582 truly healthy controls, selected from a population cohort. The gut microbiota composition was assessed by tag-sequencing the 16S rRNA gene. All participants were genotyped. We composed genetic risk scores from 11 functional genetic variants proven to be associated with IBD in genes that are directly involved in the bacterial handling in the gut: NOD2 , CARD9 , ATG16L1 , IRGM and FUT2 . Strikingly, we observed significant alterations of the gut microbiota of healthy individuals with a high genetic risk for IBD: the IBD genetic risk score was significantly associated with a decrease in the genus Roseburia in healthy controls (false discovery rate 0.017). Moreover, disease location was a major determinant of the gut microbiota: the gut microbiota of patients with colonic Crohn's disease (CD) is different from that of patients with ileal CD, with a decrease in alpha diversity associated to ileal disease (p=3.28×10 -13 ). We show for the first time that genetic risk variants associated with IBD influence the gut microbiota in healthy individuals. Roseburia spp are acetate-to-butyrate converters, and a decrease has already been observed in patients with IBD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

  19. Differences of accommodative responses between two eyes under binocular viewing condition mediated by polarizing glasses

    Directory of Open Access Journals (Sweden)

    Rui-Qing Wang

    2016-04-01

    Full Text Available AIM:To study the differences of accommodative responses between the two eyes under 3 different polarized viewing conditions. METHODS:Fifteen volunteers with emmetrope were recruited into this study(aged 18~38, 6 males and 9 females. Three different viewing conditions were set up by using polarizing glasses and liquid crystal display:(1right eye could see the visual target on the screen, but left eye cannot see it;(2left eye could see the visual target on the screen, but right eye cannot see it;(3both eyes could see the target. Accommodative responses were measured by infrared auto-refractor when fixating at the target at 5, 2, 1, 0.5 and 0.33m under the above 3 viewing conditions. The differences of accommodative responses under different viewing conditions were compared by using variance analysis of repeated measuring and t test. RESULTS:Significant differences of accommodative responses between the two eyes were found under condition(1and(2at all the fixating distance. The accommodative responses in used eyes which can see the visual target were higher than in non-used eyes which cannot see the visual target(PP>0.05. CONCLUSION:Ciliary muscles in the used eyes were more relatively tonic than non-used eyes under binocular open viewing condition. The imbalance of accommodative responses between two eyes may be one of the risk factors resulting into the occurrence of myopia.

  20. Genetic Analysis for Some of Morphological Traits in Bread Wheat under Drought Stress Condition Using Generations Mean Analysis

    Directory of Open Access Journals (Sweden)

    Jamileh Abedi

    2015-06-01

    Full Text Available Perception of genes action controlling of quantitative traits is very important in genetic breeding methods the plant populations. to study and estimate the parameters of genetic and appointment the best genetically model for justification the genetic changing some of traits the bread wheat under drought stress condition, parents (P1 & P2 and F3, F4, F5 generations together the four control cultivars (Kharchia, Gaspard, Moghan and Mahuti were evaluated by generation mean analysis using a agoment design including six blocks. Generation mean analysis was performed for all traits with Mather and Jinks model using joint scaling test. Three parameter model [m d h] provided the best fit for all traits expect harvest index, main spike grain weight, number of grain per plant, Total spike weight of plant with significant at 5% and 1% levels . Though additive and dominance effect both had interfered in controlling often the traits but with attention to difference effects and variety component was determined that dominance is more impressive than additive effect for traits of number of tiller, main spike weight, grain yield and grain number of main spike. Therefore will benefit using of these traits in the collection and to improve these traits hybridization would be much efficient than the selection strategies. In this study additive Ч additive epistasis effect only observed for traits of Total spike weight of plant, number of grain per plant, main spike grain weight and harvest index and other traits hadn’t any epistasis effect that it was demonstration lack of existence the genes reciprocal effect in the inheritance studied traits. Therefore we can suggest that the selection strategies perform in terminal generations and additive Ч additive epistasis effect would be confirmed in selection under self-pollination condition.

  1. Genetic variation, phenotypic stability, and repeatability of drought response in European larch throughout 50 years in a common garden experiment

    OpenAIRE

    George, Jan-Peter; Grabner, Michael; Karanitsch-Ackerl, Sandra; Mayer, Konrad; Wei?enbacher, Lambert; Schueler, Silvio

    2017-01-01

    Abstract Assessing intra-specific variation in drought stress response is required to mitigate the consequences of climate change on forest ecosystems. Previous studies suggest that European larch (Larix decidua Mill.), an important European conifer in mountainous and alpine forests, is highly vulnerable to drought. In light of this, we estimated the genetic variation in drought sensitivity and its degree of genetic determination in a 50-year-old common garden experiment in the drought-prone ...

  2. Evaluation of the Genetic Response of U937 and Jurkat Cells to 10-Nanosecond Electrical Pulses (nsEP)

    Science.gov (United States)

    2016-05-02

    Article 3. DATES COVERED (From - To) 15 Jun 2015 – 1 Dec 2015 4. TITLE AND SUBTITLE Evaluation of the Genetic Response of U937 and Jurkat Cells to 10...analysis, we evaluated how two commonly studied cell types, U937 and Jurkat , respond to nsEP exposure. We hypothesized that by studying the genetic...evidence that the interaction of nsEPs with cells involves mechanical stress. 15. SUBJECT TERMS Jurkat , Mechanical Stress, Microarray, Nanosecond

  3. A Prediction Algorithm for Drug Response in Patients with Mesial Temporal Lobe Epilepsy Based on Clinical and Genetic Information.

    Science.gov (United States)

    Silva-Alves, Mariana S; Secolin, Rodrigo; Carvalho, Benilton S; Yasuda, Clarissa L; Bilevicius, Elizabeth; Alvim, Marina K M; Santos, Renato O; Maurer-Morelli, Claudia V; Cendes, Fernando; Lopes-Cendes, Iscia

    2017-01-01

    Mesial temporal lobe epilepsy is the most common form of adult epilepsy in surgical series. Currently, the only characteristic used to predict poor response to clinical treatment in this syndrome is the presence of hippocampal sclerosis. Single nucleotide polymorphisms (SNPs) located in genes encoding drug transporter and metabolism proteins could influence response to therapy. Therefore, we aimed to evaluate whether combining information from clinical variables as well as SNPs in candidate genes could improve the accuracy of predicting response to drug therapy in patients with mesial temporal lobe epilepsy. For this, we divided 237 patients into two groups: 75 responsive and 162 refractory to antiepileptic drug therapy. We genotyped 119 SNPs in ABCB1, ABCC2, CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, and CYP3A5 genes. We used 98 additional SNPs to evaluate population stratification. We assessed a first scenario using only clinical variables and a second one including SNP information. The random forests algorithm combined with leave-one-out cross-validation was used to identify the best predictive model in each scenario and compared their accuracies using the area under the curve statistic. Additionally, we built a variable importance plot to present the set of most relevant predictors on the best model. The selected best model included the presence of hippocampal sclerosis and 56 SNPs. Furthermore, including SNPs in the model improved accuracy from 0.4568 to 0.8177. Our findings suggest that adding genetic information provided by SNPs, located on drug transport and metabolism genes, can improve the accuracy for predicting which patients with mesial temporal lobe epilepsy are likely to be refractory to drug treatment, making it possible to identify patients who may benefit from epilepsy surgery sooner.

  4. Correlation study between genetic polymorphisms of melanocortin receptors and adrenocorticotropic hormone responsiveness in infantile spasms

    Directory of Open Access Journals (Sweden)

    SHI Xiu-yu

    2012-10-01

    Full Text Available Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R and adrenocorticotropic hormone (ACTH responsiveness in patients with infantile spasms, and to investigate the function of single nucleotide polymorphism (SNP found in this study. Methods Direct sequencing method was used to test variations and polymorphisms in the promoter and coding regions of the MC2R, MC3R and MC4R gene. Haplotypes were structured by using SHEsis and Haploview3.32 programs to analyze the distribution frequencies of polymorphism genotypes, alleles and structured haplotypes in Chinese patients with infantile spasms and normal controls. The association between ACTH responsiveness and genetic variations was also assessed. Results Four SNPs were identified in the MC2R promoter region, one of which was new -found locus named-2T > C. Three SNPs (rs1893220, rs2186944 and -2T > C showed a significant difference between the cases and controls (P = 0.04, 0.02, 0.01. The common haplotype TCCT may give protection against the development of infantile spasms (P = 0.00. Besides, TCCT carriers were more sensitive to ACTH therapy than non-carriers (P = 0.00. The in vitro study proved that the translational efficiency of TCCT promoter in MC2R gene was four times higher than that of TCCC promoter (P = 0.00. MC2R expression assay showed a 5-fold increase in the TCCT promoter in presence of ACTH, compared with that in absence of ACTH (P = 0.00. However, responsiveness to ACTH in expression by TCCC promoter showed only 1.50-fold increase after ACTH stimulation (P > 0.05. The SNP rs11872992 in MC4R gene was related to the development of infantile spasms, as the efficiency of TC genotype in cases was lower than that of normal controls (P = 0.00. The ACTH therapy results of T-allele-carriers were better than that of non-T-allele-carriers (P = 0.01. The difference of SNP distribution frequencies in MC3R gene

  5. Aquifer response to recharge-discharge phenomenon: inference from well hydrographs for genetic classification

    Science.gov (United States)

    Mukherjee, Arunangshu; Gupta, Anita; Ray, Ranjan Kumar; Tewari, Dinesh

    2017-05-01

    The continuous groundwater level data emanating from a high-frequency automatic water level recorder installed in a purpose-built piezometer provides a true hydrograph. Analyses of such hydrographs fairly reflect the aquifer character and can be used to draw inference for genetic classification of hard rock aquifers. The signature shape of annual water level fluctuation curve (annual cycle) of a piezometer is due to the specific character of the aquifer and the way it responds to the recharge-discharge phenomenon. The pattern of annual cycle remains identical year after year, although its magnitude may vary with the annual quantum of recharge-discharge. Lithology of the aquifer does not control the shape of the curve. Based on the crest and trough shape, the hard rock aquifers of Peninsular India, where the monsoonal pattern of rainfall occurs, have been classified into genetic groups. It is also found that the nature of the aquifer can be determined by visual comparison of apparent line thickness of the hydrograph, where thin lines denote unconfined aquifer and the apparently thicker lines correspond to confining condition. The response of an aquifer to a pumping event can be identified and separated by its pattern. Thus, the aquifer classification can be automated by adopting the proposed classification scheme.

  6. The key elements for genetic response in Finnish dairy cattle breeding

    Directory of Open Access Journals (Sweden)

    J. JUGA

    2008-12-01

    Full Text Available This paper reviews some key elements of Finnish animal breeding research contributing to the Finnish dairy cattle breeding programme and discusses the possibilities and problems in collecting data for genetic evaluation, prediction of breeding values both within and across countries, estimation of the economic value of important traits, and selection of bulls and cows. Economic values are calculated for fertility, udder health and production traits when one genetic standard deviation unit (gen. sd. is changed in each trait independently and the financial returns from selection response in the Finnish dairy cattle breeding programme are estimated. The following components were used to calculate the economic value of mastitis treatments: 1 cost of mastitis including discarded milk and treatment costs, 2 reduction in milk price due to higher somatic cell count, 3 replacement costs and 4 lower production level of the herd due to involuntary culling of cows because of udder problems. A high somatic cell count lowers the price of milk and eventually leads to involuntary culling. For treatments for fertility disorders the following costs were included: 1 treatment costs 2 higher replacement costs and 3 decreased milk production in the herd. Days open included the following costs: 1 extra insemination, 2 reduced annual milk yield and 3 fewer calves born. Animal breeding was found to be a very cost effective investment, yielding returns of FIM 876.9 per cow from one round of selection when the gene flow was followed for over 25 years in the Finnish dairy cattle breeding programme.;

  7. The genetic component of the forced diving bradycardia response in mammals

    Directory of Open Access Journals (Sweden)

    Andreas eFahlman

    2011-09-01

    Full Text Available We contrasted the forced diving bradycardia between two genetically similar (inbred rat strains (Fischer and Buffalo, compared to that of outbred rats (Wistar. The animals were habituated to forced diving for 4 weeks. Each animal was then tested during one 40-sec dive on each of 3 days. The heart rate (fH was measured before, during, and after each dive. Fischer and Buffalo exhibited marked difference in dive bradycardia (Fischer: 120.9 ± 14.0 beats • min-1 vs. Buffalo: 92.8 ± 12.8 beats • min-1, P < 0.05. Outbred rats showed an intermediate response (103.0 ± 30.9 beats • min-1 but their between-animal variability in mean dive fH and pre-diving resting fH were higher than the inbred strains (P < 0.05, which showed no difference (P > 0.05. The decreased variability in fH in inbred rats as compared with the outbred group indicates that reduced genetic variability minimizes variability of the diving bradycardia between individuals. Heritability within strains was assessed by the repeatability (R index and was 0.93 ± 0.05 for the outbred, 0.84 ± 0.16 for Buffalo, and 0.80 ± 0.12 for Fischer rats for fH during diving. Our results suggest that a portion of the mammalian diving bradycardia may be a heritable trait.

  8. Genetic variation underlying renal uric acid excretion in Hispanic children: the Viva La Familia Study.

    Science.gov (United States)

    Chittoor, Geetha; Haack, Karin; Mehta, Nitesh R; Laston, Sandra; Cole, Shelley A; Comuzzie, Anthony G; Butte, Nancy F; Voruganti, V Saroja

    2017-01-17

    Reduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in children and adults. There are limited genome-wide association studies associating genetic polymorphisms with renal urate excretion measures. Therefore, we investigated the genetic factors that influence the excretion of uric acid and related indices in 768 Hispanic children of the Viva La Familia Study. We performed a genome-wide association analysis for 24-h urinary excretion measures such as urinary uric acid/urinary creatinine ratio, uric acid clearance, fractional excretion of uric acid, and glomerular load of uric acid in SOLAR, while accounting for non-independence among family members. All renal urate excretion measures were significantly heritable (p uric acid clearance with a single nucleotide polymorphism (SNP) in zinc finger protein 446 (ZNF446) (rs2033711 (A/G), MAF: 0.30). The minor allele (G) was associated with increased uric acid clearance. Also, we found suggestive associations of uric acid clearance with SNPs in ZNF324, ZNF584, and ZNF132 (in a 72 kb region of 19q13; p <1 × 10 -6 , MAFs: 0.28-0.31). For the first time, we showed the importance of 19q13 region in the regulation of renal urate excretion in Hispanic children. Our findings indicate differences in inherent genetic architecture and shared environmental risk factors between our cohort and other pediatric and adult populations.

  9. Genetic Variants in the Apoptosis Gene BCL2L1 Improve Response to Interferon-Based Treatment of Hepatitis C Virus Genotype 3 Infection

    DEFF Research Database (Denmark)

    Clausen, Louise Nygaard; Weis, Nina; Ladelund, Steen

    2015-01-01

    Genetic variation upstream of the apoptosis pathway has been associated with outcome of hepatitis C virus (HCV) infection. We investigated genetic polymorphisms in the intrinsic apoptosis pathway to assess their influence on sustained virological response (SVR) to pegylated interferon-α and ribav......Genetic variation upstream of the apoptosis pathway has been associated with outcome of hepatitis C virus (HCV) infection. We investigated genetic polymorphisms in the intrinsic apoptosis pathway to assess their influence on sustained virological response (SVR) to pegylated interferon...

  10. Comprehensive genetic dissection of the hemocyte immune response in the malaria mosquito Anopheles gambiae.

    Directory of Open Access Journals (Sweden)

    Fabrizio Lombardo

    2013-01-01

    Full Text Available Reverse genetics in the mosquito Anopheles gambiae by RNAi mediated gene silencing has led in recent years to an advanced understanding of the mosquito immune response against infections with bacteria and malaria parasites. We developed RNAi screens in An. gambiae hemocyte-like cells using a library of double-stranded RNAs targeting 109 genes expressed highly or specifically in mosquito hemocytes to identify novel regulators of the hemocyte immune response. Assays included phagocytosis of bacterial bioparticles, expression of the antimicrobial peptide CEC1, and basal and induced expression of the mosquito complement factor LRIM1. A cell viability screen was also carried out to assess dsRNA cytotoxicity and to identify genes involved in cell growth and survival. Our results identify 22 novel immune regulators, including proteins putatively involved in phagosome assembly and maturation (Ca²⁺ channel, v-ATPase and cyclin-dependent protein kinase, pattern recognition (fibrinogen-domain lectins and Nimrod, immune modulation (peptidase and serine protease homolog, immune signaling (Eiger and LPS-induced factor, cell adhesion and communication (Laminin B1 and Ninjurin and immune homeostasis (Lipophorin receptor. The development of robust functional cell-based assays paves the way for genome-wide functional screens to study the mosquito immune response to infections with human pathogens.

  11. Exploring the genetics and non-cell autonomous mechanisms underlying ALS/FTLD.

    Science.gov (United States)

    Chen, Hongbo; Kankel, Mark W; Su, Susan C; Han, Steve W S; Ofengeim, Dimitry

    2018-03-01

    Although amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, was first described in 1874, a flurry of genetic discoveries in the last 10 years has markedly increased our understanding of this disease. These findings have not only enhanced our knowledge of mechanisms leading to ALS, but also have revealed that ALS shares many genetic causes with another neurodegenerative disease, frontotemporal lobar dementia (FTLD). In this review, we survey how recent genetic studies have bridged our mechanistic understanding of these two related diseases and how the genetics behind ALS and FTLD point to complex disorders, implicating non-neuronal cell types in disease pathophysiology. The involvement of non-neuronal cell types is consistent with a non-cell autonomous component in these diseases. This is further supported by studies that identified a critical role of immune-associated genes within ALS/FTLD and other neurodegenerative disorders. The molecular functions of these genes support an emerging concept that various non-autonomous functions are involved in neurodegeneration. Further insights into such a mechanism(s) will ultimately lead to a better understanding of potential routes of therapeutic intervention. Facts ALS and FTLD are severe neurodegenerative disorders on the same disease spectrum. Multiple cellular processes including dysregulation of RNA homeostasis, imbalance of proteostasis, contribute to ALS/FTLD pathogenesis. Aberrant function in non-neuronal cell types, including microglia, contributes to ALS/FTLD. Strong neuroimmune and neuroinflammatory components are associated with ALS/FTLD patients. Open Questions Why can patients with similar mutations have different disease manifestations, i.e., why do C9ORF72 mutations lead to motor neuron loss in some patients while others exhibit loss of neurons in the frontotemporal lobe? Do ALS causal mutations result in microglial dysfunction and contribute to ALS/FTLD pathology? How do microglia

  12. Dynamic response characteristics analysis of the doubly-fed wind power system under grid voltage drop

    Science.gov (United States)

    Chen, Y.; Wang, J.; Wang, H. H.; Yang, L.; Chen, W.; Xu, Y. T.

    2016-08-01

    Double-fed induction generator (DFIG) is sensitive to the disturbances of grid, so the security and stability of the grid and the DFIG itself are under threat with the rapid increase of DFIG. Therefore, it is important to study dynamic response of the DFIG when voltage drop failure is happened in power system. In this paper, firstly, mathematical models and the control strategy about mechanical and electrical response processes is respectively introduced. Then through the analysis of response process, it is concluded that the dynamic response characteristics are related to voltage drop level, operating status of DFIG and control strategy adapted to rotor side. Last, the correctness of conclusion is validated by the simulation about mechanical and electrical response processes in different voltage levels drop and different DFIG output levels under DIgSILENT/PowerFactory software platform.

  13. Application of response surface methodology (RSM) and genetic algorithm in minimizing warpage on side arm

    Science.gov (United States)

    Raimee, N. A.; Fathullah, M.; Shayfull, Z.; Nasir, S. M.; Hazwan, M. H. M.

    2017-09-01

    The plastic injection moulding process produces large numbers of parts of high quality with great accuracy and quickly. It has widely used for production of plastic part with various shapes and geometries. Side arm is one of the product using injection moulding to manufacture it. However, there are some difficulties in adjusting the parameter variables which are mould temperature, melt temperature, packing pressure, packing time and cooling time as there are warpage happen at the tip part of side arm. Therefore, the work reported herein is about minimizing warpage on side arm product by optimizing the process parameter using Response Surface Methodology (RSM) and with additional artificial intelligence (AI) method which is Genetic Algorithm (GA).

  14. Differential response to root-knot nematodes in prunus species and correlative genetic implications.

    Science.gov (United States)

    Esmenjaud, D; Minot, J C; Voisin, R; Pinochet, J; Simard, M H; Salesses, G

    1997-09-01

    Responses of 17 Prunus rootstocks or accessions (11 from the subgenus Amygdalus and 6 from the subgenus Prunophora) were evaluated against 11 isolates of Meloidogyne spp. including one M. arenaria, four M. incognita, four M. javanica, one M. hispanica, and an unclassified population from Florida. Characterization of plant response to root-knot nematodes was based on a gall index rating. Numbers of females and juveniles plus eggs in the roots were determined for 10 of the rootstocks evaluated against one M. arenaria, one M. incognita, one M. javanica, and the Florida isolate. These 10 rootstocks plus Nemaguard and Nemared were retested by growing three different rootstock genotypes together in containers of soil infested individually with each of the above four isolates. Garfi and Garrigues almonds, GF.305 and Rutgers Red Leaf peaches, and the peach-almond GF.677 were susceptible to all isolates. Differences in resistance were detected among the other rootstocks of the subgenus Amygdalus. The peach-almond GF.557 and Summergrand peach were resistant to M. arenaria and M. incognita but susceptible to M. javanica and the Florida isolate. Nemaguard, Nemared, and its two hybrids G x N no. 15 and G x N no. 22 were resistant to all but the Florida isolate. In the subgenus Prunophora, Myrobalan plums P.1079, P.2175, P.2980, and P.2984; Marianna plum 29C; and P. insititia plum AD.101 were resistant to all isolates. Thus, two different genetic systems of RKN resistance were found in the subgenus Amygdalus: one system acting against M. arenaria and M. incognita, and another system also acting against M. javanica. Prunophora rootstocks bear a complete genetic system for resistance also acting against the Florida isolate. The hypotheses on the relationships between these systems and the corresponding putative genes of resistance are presented.

  15. DGAT1 underlies large genetic variation in milk-fat composition of dairy cows.

    Science.gov (United States)

    Schennink, A; Stoop, W M; Visker, M H P W; Heck, J M L; Bovenhuis, H; van der Poel, J J; van Valenberg, H J F; van Arendonk, J A M

    2007-10-01

    Dietary fat may play a role in the aetiology of many chronic diseases. Milk and milk-derived foods contribute substantially to dietary fat, but have a fat composition that is not optimal for human health. We measured the fat composition of milk samples in 1918 Dutch Holstein Friesian cows in their first lactation and estimated genetic parameters for fatty acids. Substantial genetic variation in milk-fat composition was found: heritabilities were high for short- and medium-chain fatty acids (C4:0-C16:0) and moderate for long-chain fatty acids (saturated and unsaturated C18). We genotyped 1762 cows for the DGAT1 K232A polymorphism, which is known to affect milk-fat percentage, to study the effect of the polymorphism on milk-fat composition. We found that the DGAT1 K232A polymorphism has a clear influence on milk-fat composition. The DGAT1 allele that encodes lysine (K) at position 232 (232K) is associated with more saturated fat; a larger fraction of C16:0; and smaller fractions of C14:0, unsaturated C18 and conjugated linoleic acid (P < 0.001). We conclude that selective breeding can make a significant contribution to change the fat composition of cow's milk.

  16. BAYESIAN PREDICTION OF GENETIC PARAMETERS IN Eucalyptus globulus CLONES UNDER WATER SUPPLY CONDITIONS

    Directory of Open Access Journals (Sweden)

    Freddy Mora

    2013-06-01

    Full Text Available http://dx.doi.org/10.5902/198050989297A Bayesian analysis of genetic parameters for growth traits at twelve months after planting was carried out in twenty nine Eucalyptus globulus clones in southern Chile. Two different environmental conditions were considered: 1 Non-irrigation and; 2 Plants were irrigated with a localized irrigation system. The Bayesian approach was performed using Gibbs sampling algorithm in a clone-environment interaction model. Inheritability values ​​were high in the water supply condition (posterior mode: H2=0.41, 0.36 and 0.39 for height, diameter and sectional area, respectively, while in the environment without irrigation, the inheritabilities were significantly lower, which was confirmed by the Bayesian credible intervals (95% probability. The posterior mode of the genetic correlation between sites was positive and high for all traits (r=0.7, 0.65 and 0.8, for height, diameter and sectional area, respectively and according to the credible interval, it was statistically different from zero, indicating a non-significant interaction.

  17. Assessment of Genetics Understanding. Under What Conditions Do Situational Features Have an Impact on Measures?

    Science.gov (United States)

    Schmiemann, Philipp; Nehm, Ross H.; Tornabene, Robyn E.

    2017-12-01

    Understanding how situational features of assessment tasks impact reasoning is important for many educational pursuits, notably the selection of curricular examples to illustrate phenomena, the design of formative and summative assessment items, and determination of whether instruction has fostered the development of abstract schemas divorced from particular instances. The goal of our study was to employ an experimental research design to quantify the degree to which situational features impact inferences about participants' understanding of Mendelian genetics. Two participant samples from different educational levels and cultural backgrounds (high school, n = 480; university, n = 444; Germany and USA) were used to test for context effects. A multi-matrix test design was employed, and item packets differing in situational features (e.g., plant, animal, human, fictitious) were randomly distributed to participants in the two samples. Rasch analyses of participant scores from both samples produced good item fit, person reliability, and item reliability and indicated that the university sample displayed stronger performance on the items compared to the high school sample. We found, surprisingly, that in both samples, no significant differences in performance occurred among the animal, plant, and human item contexts, or between the fictitious and "real" item contexts. In the university sample, we were also able to test for differences in performance between genders, among ethnic groups, and by prior biology coursework. None of these factors had a meaningful impact upon performance or context effects. Thus some, but not all, types of genetics problem solving or item formats are impacted by situational features.

  18. What would you say? Genetic counseling graduate students' and counselors' hypothetical responses to patient requested self-disclosure.

    Science.gov (United States)

    Redlinger-Grosse, Krista; Veach, Patricia McCarthy; MacFarlane, Ian M

    2013-08-01

    Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.

  19. Role for familiarity and genetic features in the therapeutic response of psoriatic arthritis

    Directory of Open Access Journals (Sweden)

    V. Riccieri

    2011-09-01

    Full Text Available Aim of the study: To analyze PsA patients with and without a familiar distribution for Ps and PsA, in order to better evaluate the genetic data, to verify the existence of different expression of the disease and finally to define the susceptibility to treatment in these patients. Materials and methods: 230 PsA patients were selected for familiar or sporadic distribution of the disease and were evaluated for the main clinical, demographic, radiological and laboratory features, as well as for the ongoing treatments. In each patient HLA class I (A,B,C and II (DRB1, DQB1 antigens were typed with PCR-SSP method while MICA-A exon 5 microsatellite typing was performed by heteroduplex analysis in 122 subjects. Results: A familiar distribution for Ps and PsA was found in 68 patients (29.6% although only two patients had familiarity for PsA. In the familiar PsA group the male prevalence was significantly higher respect to the sporadic one (p<0.001 and the more frequently involved relative was the father (28%. Mean age (p<0.006 and age at onset of Ps (p<0.004 and PsA (p<0.014 were significantly lower in familiar respect to sporadic PsA. Between the two groups no difference was found concerning the articular involvement, the radiological findings, the disease activity (including n° of painful/swollen joints, the inflammatory laboratory parameters (including ESR and CRP and genetic aspects, incuding the frequencies of MICA-A alleles that were analysed in 30 patients with the familiar form and in 92 with the sporadic one. In the follow-up the therapeutic response to any evaluated treatment adopted for PsA did not show any significant difference in the two groups. All these results were confirmed even when the patients in the two groups were matchable for sex, age and disease duration. Conclusion: Our results confirm that familiar PsA is characterized by an early onset of the disease and by a male and fatherly predominance respect to the sporadic form

  20. Joint genetic and network analyses identify loci associated with root growth under NaCl stress in Arabidopsis thaliana.

    Science.gov (United States)

    Kobayashi, Yuriko; Sadhukhan, Ayan; Tazib, Tanveer; Nakano, Yuki; Kusunoki, Kazutaka; Kamara, Mohamed; Chaffai, Radhouane; Iuchi, Satoshi; Sahoo, Lingaraj; Kobayashi, Masatomo; Hoekenga, Owen A; Koyama, Hiroyuki

    2016-04-01

    Plants have evolved a series of tolerance mechanisms to saline stress, which perturbs physiological processes throughout the plant. To identify genetic mechanisms associated with salinity tolerance, we performed linkage analysis and genome-wide association study (GWAS) on maintenance of root growth of Arabidopsis thaliana in hydroponic culture with weak and severe NaCl toxicity. The top 200 single-nucleotide polymorphisms (SNPs) determined by GWAS could cumulatively explain approximately 70% of the variation observed at each stress level. The most significant SNPs were linked to the genes of ATP-binding cassette B10 and vacuolar proton ATPase A2. Several known salinity tolerance genes such as potassium channel KAT1 and calcium sensor SOS3 were also linked to SNPs in the top 200. In parallel, we constructed a gene co-expression network to independently verify that particular groups of genes work together to a common purpose. We identify molecular mechanisms to confer salt tolerance from both predictable and novel physiological sources and validate the utility of combined genetic and network analysis. Additionally, our study indicates that the genetic architecture of salt tolerance is responsive to the severity of stress. These gene datasets are a significant information resource for a following exploration of gene function. © 2015 John Wiley & Sons Ltd.

  1. A Genetic Mosaic Screen Reveals Ecdysone-Responsive Genes Regulating Drosophila Oogenesis.

    Science.gov (United States)

    Ables, Elizabeth T; Hwang, Grace H; Finger, Danielle S; Hinnant, Taylor D; Drummond-Barbosa, Daniela

    2016-08-09

    Multiple aspects of Drosophila oogenesis, including germline stem cell activity, germ cell differentiation, and follicle survival, are regulated by the steroid hormone ecdysone. While the transcriptional targets of ecdysone signaling during development have been studied extensively, targets in the ovary remain largely unknown. Early studies of salivary gland polytene chromosomes led to a model in which ecdysone stimulates a hierarchical transcriptional cascade, wherein a core group of ecdysone-sensitive transcription factors induce tissue-specific responses by activating secondary branches of transcriptional targets. More recently, genome-wide approaches have identified hundreds of putative ecdysone-responsive targets. Determining whether these putative targets represent bona fide targets in vivo, however, requires that they be tested via traditional mutant analysis in a cell-type specific fashion. To investigate the molecular mechanisms whereby ecdysone signaling regulates oogenesis, we used genetic mosaic analysis to screen putative ecdysone-responsive genes for novel roles in the control of the earliest steps of oogenesis. We identified a cohort of genes required for stem cell maintenance, stem and progenitor cell proliferation, and follicle encapsulation, growth, and survival. These genes encode transcription factors, chromatin modulators, and factors required for RNA transport, stability, and ribosome biogenesis, suggesting that ecdysone might control a wide range of molecular processes during oogenesis. Our results suggest that, although ecdysone target genes are known to have cell type-specific roles, many ecdysone response genes that control larval or pupal cell types at developmental transitions are used reiteratively in the adult ovary. These results provide novel insights into the molecular mechanisms by which ecdysone signaling controls oogenesis, laying new ground for future studies. Copyright © 2016 Ables et al.

  2. Genomic, genetic and functional dissection of bitter taste responses to artificial sweeteners.

    Science.gov (United States)

    Roudnitzky, Natacha; Bufe, Bernd; Thalmann, Sophie; Kuhn, Christina; Gunn, Howard C; Xing, Chao; Crider, Bill P; Behrens, Maik; Meyerhof, Wolfgang; Wooding, Stephen P

    2011-09-01

    Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint effects. To explore this aspect of gustation, we examined bitter perception of saccharin and acesulfame K, widely used artificial sweeteners with aversive aftertastes. Both substances are agonists of TAS2R31 and -43, which belong to a five-member subfamily (TAS2R30-46) responsive to a diverse constellation of compounds. We analyzed sequence variation and linkage structure in the ∼140 kb genomic region encoding TAS2R30-46, taste responses to the two sweeteners in subjects, and functional characteristics of receptor alleles. Whole-gene sequences from TAS2R30-46 in 60 Caucasian subjects revealed extensive diversity including 34 missense mutations, two nonsense mutations and high-frequency copy-number variants. Thirty markers, including non-synonymous variants in all five genes, were associated (P 0.95). Haplotype analyses revealed that most associations were spurious, arising from LD with variants in TAS2R31. In vitro assays confirmed the functional importance of four TAS2R31 mutations, which had independent effects on receptor response. The existence of high LD spanning functionally distinct TAS2R loci predicts that bitter taste responses to many compounds will be strongly correlated even when they are mediated by different genes. Integrative approaches combining phenotypic, genetic and functional analysis will be essential in dissecting these complex relationships.

  3. Immunotoxicity in green mussels under perfluoroalkyl substance (PFAS) exposure: Reversible response and response model development.

    Science.gov (United States)

    Liu, Changhui; Gin, Karina Yew-Hoong

    2018-04-01

    The immunotoxicity of 4 commonly detected perfluoroalkyl substances (PFASs), namely, perfluorooctanesulfonate (PFOS), perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), and perfluorodecanoic acid (PFDA) was investigated by measuring biomarkers of the immune profile of green mussels, Perna viridis. The biomarkers included neutral red retention, phagocytosis, and spontaneous cytotoxicity, all of which were tested on mussel hemocytes. Hemocytes are an important component of the invertebrate immune system. We found that exposure to PFASs could lead to reduced hemocyte cell viability and suppress immune function by up to 50% of normal performance within the experimental exposure range. The results indicate that PFASs have an immunotoxic potential and thus could pose severe health risks to aquatic organisms. The reported immunotoxicity is likely to result from the compounds' direct and indirect interactions with the hemocyte membrane, and therefore likely to affect the functionality of these cells. The immunotoxic response was found to be related to the organism's burden of PFASs, and was reversible when the compounds were removed from the test organisms. Based on this relationship, models using an organism's PFAS concentration and bioaccumulation factor (BAF) as the independent variables were established to quantify PFAS-induced immunotoxicity. The models help us to gain a better understanding of the toxic mechanism of PFASs, and provide a tool to evaluate adverse effects for the whole group of compounds with one mathematical equation. Environ Toxicol Chem 2018;37:1138-1145. © 2018 SETAC. © 2018 SETAC.

  4. Genetic and Molecular Mechanisms Underlying Symbiotic Specificity in Legume-Rhizobium Interactions

    Directory of Open Access Journals (Sweden)

    Qi Wang

    2018-03-01

    Full Text Available Legumes are able to form a symbiotic relationship with nitrogen-fixing soil bacteria called rhizobia. The result of this symbiosis is to form nodules on the plant root, within which the bacteria can convert atmospheric nitrogen into ammonia that can be used by the plant. Establishment of a successful symbiosis requires the two symbiotic partners to be compatible with each other throughout the process of symbiotic development. However, incompatibility frequently occurs, such that a bacterial strain is unable to nodulate a particular host plant or forms nodules that are incapable of fixing nitrogen. Genetic and molecular mechanisms that regulate symbiotic specificity are diverse, involving a wide range of host and bacterial genes/signals with various modes of action. In this review, we will provide an update on our current knowledge of how the recognition specificity has evolved in the context of symbiosis signaling and plant immunity.

  5. Genetic and epigenetic mechanisms underlying arsenic-associated diabetes mellitus: a perspective of the current evidence.

    Science.gov (United States)

    Martin, Elizabeth M; Stýblo, Miroslav; Fry, Rebecca C

    2017-05-01

    Chronic exposure to arsenic has been associated with the development of diabetes mellitus (DM), a disease characterized by hyperglycemia resulting from dysregulation of glucose homeostasis. This review summarizes four major mechanisms by which arsenic induces diabetes, namely inhibition of insulin-dependent glucose uptake, pancreatic β-cell damage, pancreatic β-cell dysfunction and stimulation of liver gluconeogenesis that are supported by both in vivo and in vitro studies. Additionally, the role of polymorphic variants associated with arsenic toxicity and disease susceptibility, as well as epigenetic modifications associated with arsenic exposure, are considered in the context of arsenic-associated DM. Taken together, in vitro, in vivo and human genetic/epigenetic studies support that arsenic has the potential to induce DM phenotypes and impair key pathways involved in the regulation of glucose homeostasis.

  6. Genetic subdivision and candidate genes under selection in North American grey wolves.

    Science.gov (United States)

    Schweizer, Rena M; vonHoldt, Bridgett M; Harrigan, Ryan; Knowles, James C; Musiani, Marco; Coltman, David; Novembre, John; Wayne, Robert K

    2016-01-01

    Previous genetic studies of the highly mobile grey wolf (Canis lupus) found population structure that coincides with habitat and phenotype differences. We hypothesized that these ecologically distinct populations (ecotypes) should exhibit signatures of selection in genes related to morphology, coat colour and metabolism. To test these predictions, we quantified population structure related to habitat using a genotyping array to assess variation in 42 036 single-nucleotide polymorphisms (SNPs) in 111 North American grey wolves. Using these SNP data and individual-level measurements of 12 environmental variables, we identified six ecotypes: West Forest, Boreal Forest, Arctic, High Arctic, British Columbia and Atlantic Forest. Next, we explored signals of selection across these wolf ecotypes through the use of three complementary methods to detect selection: FST /haplotype homozygosity bivariate percentilae, bayescan, and environmentally correlated directional selection with bayenv. Across all methods, we found consistent signals of selection on genes related to morphology, coat coloration, metabolism, as predicted, as well as vision and hearing. In several high-ranking candidate genes, including LEPR, TYR and SLC14A2, we found variation in allele frequencies that follow environmental changes in temperature and precipitation, a result that is consistent with local adaptation rather than genetic drift. Our findings show that local adaptation can occur despite gene flow in a highly mobile species and can be detected through a moderately dense genomic scan. These patterns of local adaptation revealed by SNP genotyping likely reflect high fidelity to natal habitats of dispersing wolves, strong ecological divergence among habitats, and moderate levels of linkage in the wolf genome. © 2015 John Wiley & Sons Ltd.

  7. Empirical Modeling of Physiochemical Immune Response of Multilayer Zinc Oxide Nanomaterials under UV Exposure to Melanoma and Foreskin Fibroblasts

    Science.gov (United States)

    Fakhar-E-Alam, Muhammad; Akram, M. Waseem; Iqbal, Seemab; Alimgeer, K. S.; Atif, M.; Sultana, K.; Willander, M.; Wang, Zhiming M.

    2017-04-01

    Carcinogenesis is a complex molecular process starting with genetic and epigenetic alterations, mutation stimulation, and DNA modification, which leads to proteomic adaptation ending with an uncontrolled proliferation mechanism. The current research focused on the empirical modelling of the physiological response of human melanoma cells (FM55P) and human foreskin fibroblasts cells (AG01518) to the multilayer zinc oxide (ZnO) nanomaterials under UV-A exposure. To validate this experimental scheme, multilayer ZnO nanomaterials were grown on a femtotip silver capillary and conjugated with protoporphyrin IX (PpIX). Furthermore, PpIX-conjugated ZnO nanomaterials grown on the probe were inserted into human melanoma (FM55P) and foreskin fibroblasts cells (AG01518) under UV-A light exposure. Interestingly, significant cell necrosis was observed because of a loss in mitochondrial membrane potential just after insertion of the femtotip tool. Intense reactive oxygen species (ROS) fluorescence was observed after exposure to the ZnO NWs conjugated with PpIX femtotip model under UV exposure. Results were verified by applying several experimental techniques, e.g., ROS detection, MTT assay, and fluorescence spectroscopy. The present work reports experimental modelling of cell necrosis in normal human skin as well as a cancerous tissue. These obtained results pave the way for a more rational strategy for biomedical and clinical applications.

  8. Empirical Modeling of Physiochemical Immune Response of Multilayer Zinc Oxide Nanomaterials under UV Exposure to Melanoma and Foreskin Fibroblasts.

    Science.gov (United States)

    Fakhar-E-Alam, Muhammad; Akram, M Waseem; Iqbal, Seemab; Alimgeer, K S; Atif, M; Sultana, K; Willander, M; Wang, Zhiming M

    2017-04-24

    Carcinogenesis is a complex molecular process starting with genetic and epigenetic alterations, mutation stimulation, and DNA modification, which leads to proteomic adaptation ending with an uncontrolled proliferation mechanism. The current research focused on the empirical modelling of the physiological response of human melanoma cells (FM55P) and human foreskin fibroblasts cells (AG01518) to the multilayer zinc oxide (ZnO) nanomaterials under UV-A exposure. To validate this experimental scheme, multilayer ZnO nanomaterials were grown on a femtotip silver capillary and conjugated with protoporphyrin IX (PpIX). Furthermore, PpIX-conjugated ZnO nanomaterials grown on the probe were inserted into human melanoma (FM55P) and foreskin fibroblasts cells (AG01518) under UV-A light exposure. Interestingly, significant cell necrosis was observed because of a loss in mitochondrial membrane potential just after insertion of the femtotip tool. Intense reactive oxygen species (ROS) fluorescence was observed after exposure to the ZnO NWs conjugated with PpIX femtotip model under UV exposure. Results were verified by applying several experimental techniques, e.g., ROS detection, MTT assay, and fluorescence spectroscopy. The present work reports experimental modelling of cell necrosis in normal human skin as well as a cancerous tissue. These obtained results pave the way for a more rational strategy for biomedical and clinical applications.

  9. Can Man Control His Biological Evolution? A Symposium on Genetic Engineering. Man's Responsibility to His Future

    Science.gov (United States)

    Hoagland, Hudson

    1972-01-01

    Biological evolution can be carried out in the laboratory. With new knowledge available in genetics, possibilities are raised that genetic characters can be transferred in the future to embryos according to a predetermined plan. (PS)

  10. Investigating the toxicity, uptake, nanoparticle formation and genetic response of plants to gold.

    Directory of Open Access Journals (Sweden)

    Andrew F Taylor

    Full Text Available We have studied the physiological and genetic responses of Arabidopsis thaliana L. (Arabidopsis to gold. The root lengths of Arabidopsis seedlings grown on nutrient agar plates containing 100 mg/L gold were reduced by 75%. Oxidized gold was subsequently found in roots and shoots of these plants, but gold nanoparticles (reduced gold were only observed in the root tissues. We used a microarray-based study to monitor the expression of candidate genes involved in metal uptake and transport in Arabidopsis upon gold exposure. There was up-regulation of genes involved in plant stress response such as glutathione transferases, cytochromes P450, glucosyl transferases and peroxidases. In parallel, our data show the significant down-regulation of a discreet number of genes encoding proteins involved in the transport of copper, cadmium, iron and nickel ions, along with aquaporins, which bind to gold. We used Medicago sativa L. (alfalfa to study nanoparticle uptake from hydroponic culture using ionic gold as a non-nanoparticle control and concluded that nanoparticles between 5 and 100 nm in diameter are not directly accumulated by plants. Gold nanoparticles were only observed in plants exposed to ionic gold in solution. Together, we believe our results imply that gold is taken up by the plant predominantly as an ionic form, and that plants respond to gold exposure by up-regulating genes for plant stress and down-regulating specific metal transporters to reduce gold uptake.

  11. From brute luck to option luck? On genetics, justice, and moral responsibility in reproduction.

    Science.gov (United States)

    Denier, Yvonne

    2010-04-01

    The structure of our ethical experience depends, crucially, on a fundamental distinction between what we are responsible for doing or deciding and what is given to us. As such, the boundary between chance and choice is the spine of our conventional morality, and any serious shift in that boundary is thoroughly dislocating. Against this background, I analyze the way in which techniques of prenatal genetic diagnosis (PGD) pose such a fundamental challenge to our conventional ideas of justice and moral responsibility. After a short description of the situation, I first examine the influential luck egalitarian theory of justice, which is based on the distinction between choice and luck or, more specifically, between option luck and brute luck, and the way in which it would approach PGD (section II), followed by an analysis of the conceptual incoherencies (in section III) and moral problems (in section IV) that come with such an approach. Put shortly, the case of PGD shows that the luck egalitarian approach fails to express equal respect for the individual choices of people. The paradox of the matter is that by overemphasizing the fact of choice as such, without regard for the social framework in which they are being made, or for the fundamental and existential nature of particular choices-like choosing to have children and not to undergo PGD or not to abort a handicapped fetus-such choices actually become impossible.

  12. Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury.

    Science.gov (United States)

    Vernon, Lauren L; Vance, Danica D; Wang, Liyong; Rampersaud, Evadnie; Vance, Jeffery M; Pericak-Vance, Margaret; Huang, C-Y Charles; Kaplan, Lee D

    2016-04-01

    Normal physiological movement creates different weightbearing zones within a human knee: the medial condyle bearing the highest and the trochlea bearing the lowest weight. Adaptation to different physiological loading conditions results in different tissue and cellular properties within a knee. The objective of this study was to use microarray analysis to examine gene expression differences among three anatomical regions of human knee articular cartilage at baseline and following induction of an acute impact injury. Cartilage explants were harvested from 7 cadaveric knees (12 plugs per knee). A drop tower was utilized to introduce injury. Plugs were examined 24 hours after impact for gene expression using microarray. The primary analysis is the comparison of baseline versus impacted samples within each region separately. In addition, pairwise comparisons among the three regions were performed at baseline and after impact. False discovery rate (FDR) was used to evaluate significance of differential gene expression. In the comparison of before and after injury, the trochlear had 130 differentially expressed genes (FDR ≤ 0.05) while the condyles had none. In the comparison among regions, smaller sets of differentially expressed genes (n ≤ 21) were found, with trochlea being more different than the condyles. Most of more frequently expressed genes in trochlea are developmental genes. Within the experimental setup of this study, only the trochlea was displaying an acute genetic response on injury. Our data demonstrated the regional-specific response to injury in human articular cartilage.

  13. Investigating the toxicity, uptake, nanoparticle formation and genetic response of plants to gold.

    Science.gov (United States)

    Taylor, Andrew F; Rylott, Elizabeth L; Anderson, Christopher W N; Bruce, Neil C

    2014-01-01

    We have studied the physiological and genetic responses of Arabidopsis thaliana L. (Arabidopsis) to gold. The root lengths of Arabidopsis seedlings grown on nutrient agar plates containing 100 mg/L gold were reduced by 75%. Oxidized gold was subsequently found in roots and shoots of these plants, but gold nanoparticles (reduced gold) were only observed in the root tissues. We used a microarray-based study to monitor the expression of candidate genes involved in metal uptake and transport in Arabidopsis upon gold exposure. There was up-regulation of genes involved in plant stress response such as glutathione transferases, cytochromes P450, glucosyl transferases and peroxidases. In parallel, our data show the significant down-regulation of a discreet number of genes encoding proteins involved in the transport of copper, cadmium, iron and nickel ions, along with aquaporins, which bind to gold. We used Medicago sativa L. (alfalfa) to study nanoparticle uptake from hydroponic culture using ionic gold as a non-nanoparticle control and concluded that nanoparticles between 5 and 100 nm in diameter are not directly accumulated by plants. Gold nanoparticles were only observed in plants exposed to ionic gold in solution. Together, we believe our results imply that gold is taken up by the plant predominantly as an ionic form, and that plants respond to gold exposure by up-regulating genes for plant stress and down-regulating specific metal transporters to reduce gold uptake.

  14. Genetics of PCOS: A systematic bioinformatics approach to unveil the proteins responsible for PCOS.

    Science.gov (United States)

    Panda, Pritam Kumar; Rane, Riya; Ravichandran, Rahul; Singh, Shrinkhla; Panchal, Hetalkumar

    2016-06-01

    Polycystic ovary syndrome (PCOS) is a hormonal imbalance in women, which causes problems during menstrual cycle and in pregnancy that sometimes results in fatality. Though the genetics of PCOS is not fully understood, early diagnosis and treatment can prevent long-term effects. In this study, we have studied the proteins involved in PCOS and the structural aspects of the proteins that are taken into consideration using computational tools. The proteins involved are modeled using Modeller 9v14 and Ab-initio programs. All the 43 proteins responsible for PCOS were subjected to phylogenetic analysis to identify the relatedness of the proteins. Further, microarray data analysis of PCOS datasets was analyzed that was downloaded from GEO datasets to find the significant protein-coding genes responsible for PCOS, which is an addition to the reported protein-coding genes. Various statistical analyses were done using R programming to get an insight into the structural aspects of PCOS that can be used as drug targets to treat PCOS and other related reproductive diseases.

  15. Investigating the Toxicity, Uptake, Nanoparticle Formation and Genetic Response of Plants to Gold

    Science.gov (United States)

    Taylor, Andrew F.; Rylott, Elizabeth L.; Anderson, Christopher W. N.; Bruce, Neil C.

    2014-01-01

    We have studied the physiological and genetic responses of Arabidopsis thaliana L. (Arabidopsis) to gold. The root lengths of Arabidopsis seedlings grown on nutrient agar plates containing 100 mg/L gold were reduced by 75%. Oxidized gold was subsequently found in roots and shoots of these plants, but gold nanoparticles (reduced gold) were only observed in the root tissues. We used a microarray-based study to monitor the expression of candidate genes involved in metal uptake and transport in Arabidopsis upon gold exposure. There was up-regulation of genes involved in plant stress response such as glutathione transferases, cytochromes P450, glucosyl transferases and peroxidases. In parallel, our data show the significant down-regulation of a discreet number of genes encoding proteins involved in the transport of copper, cadmium, iron and nickel ions, along with aquaporins, which bind to gold. We used Medicago sativa L. (alfalfa) to study nanoparticle uptake from hydroponic culture using ionic gold as a non-nanoparticle control and concluded that nanoparticles between 5 and 100 nm in diameter are not directly accumulated by plants. Gold nanoparticles were only observed in plants exposed to ionic gold in solution. Together, we believe our results imply that gold is taken up by the plant predominantly as an ionic form, and that plants respond to gold exposure by up-regulating genes for plant stress and down-regulating specific metal transporters to reduce gold uptake. PMID:24736522

  16. Limiting Performance Analysis of Underwater Shock Isolation of a System with Biodynamic Response Using Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Z. Zong

    2000-01-01

    Full Text Available Biodynamic response of shipboard crew to underwater shock is of a major concern to navies. An underwater shock can produce very high accelerations, resulting in severe human injuries aboard a battleship. Protection of human bodies from underwater shock is implemented by installing onboard isolators. In this paper, the optimal underwater shock isolation to protect human bodies is studied. A simple shock-structure-isolator-human interaction model is first constructed. The model incorporates the effect of fluid-structure interaction, biodynamic response of human body, isolator influence. Based on this model, the optimum shock isolation is then formulated. The performance index and restriction are defined. Thirdly, GA (genetic algorithm is employed to solve the formulated optimization problem. GA is a powerful evolutionary optimization scheme suitable for large-scale and multi-variable optimization problems that are otherwise hard to be solved by conventional methods. A brief introduction to GA is given in the paper. Finally, the method is applied to an example problem and the limiting performance characteristic is obtained.

  17. Genetic influence on disease course and cytokine response in relapsing experimental allergic encephalomyelitis

    DEFF Research Database (Denmark)

    Kjellén, P; Issazadeh-Navikas, Shohreh; Olsson, T

    1998-01-01

    on both LEW and DA genetic backgrounds, and recombinant inbred strains between DA and E3 rats. An in situ hybridization assay was used to examine the expression of mRNA for IFN-gamma, IL-4, IL-10 and transforming growth factor (TGF)-beta both in sections of spinal cords and the antigen-induced expression...... developed a severe EAE while surprisingly no signs of disease were observed in the DXEA strain, which shares the MHC region with the DXEB strain, after immunization with the MBP 63-87 peptide. Resistance to relapsing EAE in the DXEA strain correlated with increased non-MHC controlled expression for TGF......-beta and lack of IFN-gamma in the spinal cord. The same pattern of cytokine expression was seen in splenocytes after stimulation in vitro with the MBP 63-87 peptide. A spreading of the immune response to the MBP 87-110 peptide was seen. Non-MHC genes controlled the quality of this response: splenocytes from MBP...

  18. Invariability of Central Metabolic Flux Distribution in Shewanella oneidensis MR-1 Under Environmental or Genetic Perturbations

    Energy Technology Data Exchange (ETDEWEB)

    Tang, Yinjie; Martin, Hector Garcia; Deutschbauer, Adam; Feng, Xueyang; Huang, Rick; Llora, Xavier; Arkin, Adam; Keasling, Jay D.

    2009-04-21

    An environmentally important bacterium with versatile respiration, Shewanella oneidensis MR-1, displayed significantly different growth rates under three culture conditions: minimal medium (doubling time {approx} 3 hrs), salt stressed minimal medium (doubling time {approx} 6 hrs), and minimal medium with amino acid supplementation (doubling time {approx}1.5 hrs). {sup 13}C-based metabolic flux analysis indicated that fluxes of central metabolic reactions remained relatively constant under the three growth conditions, which is in stark contrast to the reported significant changes in the transcript and metabolite profiles under various growth conditions. Furthermore, ten transposon mutants of S. oneidensis MR-1 were randomly chosen from a transposon library and their flux distributions through central metabolic pathways were revealed to be identical, even though such mutational processes altered the secondary metabolism, for example, glycine and C1 (5,10-Me-THF) metabolism.

  19. Soil microbial response to glucose and phosphorus addition under agricultural systems in the Brazilian Cerrado

    Directory of Open Access Journals (Sweden)

    ADÃO S. FERREIRA

    2013-03-01

    Full Text Available Conventional tillage (CT and no-tillage (NT management systems alter soil nutrient availability and consequently modify soil microbial response to nutrient additions such as carbon (C and phosphorus (P. The objective of this study is to evaluate microbial response to the addition of C (glucose and P (Na2HPO4.7H2O under CT and NT in the brazilian Cerrado. In response to glucose addition, the NT system yielded higher microbial respiration rates and glucose consumption than the CT system. The best microbial response to C addition was after 0 - 12 h incubation in NT and 0 - 24 h in CT. The addition of P produced higher demand under CT than NT. After incubation, biochemical indicators such as microbial respiration, glucose consumption, dehydrogenase activity and metabolic yield confirmed the higher glucose demands under NT and higher phosphorus demands under CT. These results demonstrate that C and P addition alter significantly the microbial response, suggesting that soil microorganisms present nutrient differential demands between CT and NT management systems.

  20. Dynamic Response of Acrylonitrile Butadiene Styrene Under Impact Loading (Open Access)

    Science.gov (United States)

    2016-03-16

    ORIGINAL ARTICLE Open Access Dynamic response of acrylonitrile butadiene styrene under impact loading Gbadebo Owolabi1*, Alex Peterson1, Ed Habtour2...Tensile tests were conducted on 3-D printed acrylonitrile butadiene styrene (ABS) at differentstrain rates, according to the ASTM D638 standard, to assess... butadiene styrene, High strain rates, Dynamic response Background Through the use of direct digital manufacturing (DDM), more commonly known as

  1. Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

    DEFF Research Database (Denmark)

    van den Berg, S. M.; de Moor, M. H. M.; McGue, Matt

    2014-01-01

    -analyses can be employed. Within the Genetics of Personality Consortium, we demonstrate for two clinically relevant personality traits, Neuroticism and Extraversion, how Item-Response Theory (IRT) can be applied to map item data from different inventories to the same underlying constructs. Personality item...... data were analyzed in > 160,000 individuals from 23 cohorts across Europe, USA and Australia in which Neuroticism and Extraversion were assessed by nine different personality inventories. Results showed that harmonization was very successful for most personality inventories and moderately successful...

  2. Genetic Architecture of Natural Variation Underlying Adult Foraging Behavior That Is Essential for Survival of Drosophila melanogaster.

    Science.gov (United States)

    Lee, Yuh Chwen G; Yang, Qian; Chi, Wanhao; Turkson, Susie A; Du, Wei A; Kemkemer, Claus; Zeng, Zhao-Bang; Long, Manyuan; Zhuang, Xiaoxi

    2017-05-01

    Foraging behavior is critical for the fitness of individuals. However, the genetic basis of variation in foraging behavior and the evolutionary forces underlying such natural variation have rarely been investigated. We developed a systematic approach to assay the variation in survival rate in a foraging environment for adult flies derived from a wild Drosophila melanogaster population. Despite being such an essential trait, there is substantial variation of foraging behavior among D. melanogaster strains. Importantly, we provided the first evaluation of the potential caveats of using inbred Drosophila strains to perform genome-wide association studies on life-history traits, and concluded that inbreeding depression is unlikely a major contributor for the observed large variation in adult foraging behavior. We found that adult foraging behavior has a strong genetic component and, unlike larval foraging behavior, depends on multiple loci. Identified candidate genes are enriched in those with high expression in adult heads and, demonstrated by expression knock down assay, are involved in maintaining normal functions of the nervous system. Our study not only identified candidate genes for foraging behavior that is relevant to individual fitness, but also shed light on the initial stage underlying the evolution of the behavior. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  3. Review of parameters influencing the structural response of a submerged body under cavitation conditions

    OpenAIRE

    Escaler, X; De La Torre, O; Farhat, M

    2015-01-01

    Submerged structures that operate under extreme flows are prone to suffer large scale cavitation attached to thei r surfaces. Under such conditions the added mass effects differ from the expected ones in pure liquids. Moreover, the existence of small gaps between the structure and surrounding bodies filled with fluid also influence the dynamic response. A series of experiments and numerical simulations have been carried out with a truncated NACA0009 hydrofoil mounted as a cantilever beam at t...

  4. Novel genetic loci underlying human intracranial volume identified through genome-wide association

    NARCIS (Netherlands)

    Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beiser, Alexa; Bernard, Manon; Bis, Joshua C; Blanken, Laura M E; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chauhan, Ganesh; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; Braber, Anouk Den; Doan, Nhat Trung; Ehrlich, Stefan; Filippi, Irina; Ge, Tian; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Greven, Corina U; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Hass, Johanna; Haukvik, Unn K; Hilal, Saima; Hofer, Edith; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liao, Jiemin; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; Mazoyer, Bernard; McKay, David R; McWhirter, Rebekah; Milaneschi, Yuri; Mirza-Schreiber, Nazanin; Muetzel, Ryan L; Maniega, Susana Muñoz; Nho, Kwangsik; Nugent, Allison C; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pappa, Irene; Pirpamer, Lukas; Pudas, Sara; Pütz, Benno; Rajan, Kumar B; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Thomson, Russell; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Xu, Bing; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Aggarwal, Neelum T; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Chen, Christopher; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Geus, Eco J C; De Jager, Philip L; de Zubicaray, Greig I; Delanty, Norman; Depondt, Chantal; DeStefano, Anita L; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Espeseth, Thomas; Evans, Denis A; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Grabe, Hans J; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Pol, Hilleke E Hulshoff; Ikeda, Masashi; Ikram, M Kamran; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Longstreth, W T; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Katie L; McMahon, Francis J; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schofield, Peter R; Sigurdsson, Sigurdur; Simmons, Andy; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Srikanth, Velandai; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Tiemeier, Henning; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; Van der Lugt, Aad; Van der Wee, Nic J A; Van Duijn, Cornelia M; Van Haren, Neeltje E M; Van T Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Veltman, Dick J; Vernooij, Meike W; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, H Ronald; Zonderman, Alan B; Deary, Ian J; DeCarli, Charles; Schmidt, Helena; Martin, Nicholas G; De Craen, Anton J M; Wright, Margaret J; Launer, Lenore J; Schumann, Gunter; Fornage, Myriam; Franke, Barbara; Debette, Stéphanie; Medland, Sarah E; Ikram, M Arfan; Thompson, Paul M

    2016-01-01

    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously

  5. Genetic control of protein, oil and fatty acids content under partial ...

    African Journals Online (AJOL)

    The purpose of the present study was to map quantitative trait locus (QTLs) associated with percentage of seed protein, oil and fatty acids content under different conditions in a population of recombinant inbred lines (RILs) of sunflower. Three independent field experiments were conducted with well-, partial-irrigated and ...

  6. An assessment of yield gains under climate change due to genetic modification of pearl millet.

    Science.gov (United States)

    Singh, Piara; Boote, K J; Kadiyala, M D M; Nedumaran, S; Gupta, S K; Srinivas, K; Bantilan, M C S

    2017-12-01

    Developing cultivars with traits that can enhance and sustain productivity under climate change will be an important climate smart adaptation option. The modified CSM-CERES-Pearl millet model was used to assess yield gains by modifying plant traits determining crop maturity duration, potential yield and tolerance to drought and heat in pearl millet cultivars grown at six locations in arid (Hisar, Jodhpur, Bikaner) and semi-arid (Jaipur, Aurangabad and Bijapur) tropical India and two locations in semi-arid tropical West Africa (Sadore in Niamey and Cinzana in Mali). In all the study locations the yields decreased when crop maturity duration was decreased by 10% both in current and future climate conditions; however, 10% increase in crop maturity significantly (pclimate situations in India and West Africa. Drought tolerance imparted the lowest yield gain at Aurangabad (6%), the highest at Sadore (30%) and intermediate at the other locations under current climate. Under climate change the contribution of drought tolerance to the yield of cultivars either increased or decreased depending upon changes in rainfall of the locations. Yield benefits of heat tolerance substantially increased under climate change at most locations, having the greatest effects at Bikaner (17%) in India and Sadore (13%) in West Africa. Aurangabad and Bijapur locations had no yield advantage from heat tolerance due to their low temperature regimes. Thus drought and heat tolerance in pearl millet increased yields under climate change in both the arid and semi-arid tropical climates with greater benefit in relatively hotter environments. This study will assists the plant breeders in evaluating new promising plant traits of pearl millet for adapting to climate change at the selected locations and other similar environments. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  7. Shared Selective Pressures on Fungal and Human Metabolic Pathways Lead to Divergent yet Analogous Genetic Responses.

    Science.gov (United States)

    Eidem, Haley R; McGary, Kriston L; Rokas, Antonis

    2015-06-01

    Reduced metabolic efficiency, toxic intermediate accumulation, and deficits of molecular building blocks, which all stem from disruptions of flux through metabolic pathways, reduce organismal fitness. Although these represent shared selection pressures across organisms, the genetic signatures of the responses to them may differ. In fungi, a frequently observed signature is the physical linkage of genes from the same metabolic pathway. In contrast, human metabolic genes are rarely tightly linked; rather, they tend to show tissue-specific coexpression. We hypothesized that the physical linkage of fungal metabolic genes and the tissue-specific coexpression of human metabolic genes are divergent yet analogous responses to the range of selective pressures imposed by disruptions of flux. To test this, we examined the degree to which the human homologs of physically linked metabolic genes in fungi (fungal linked homologs or FLOs) are coexpressed across six human tissues. We found that FLOs are significantly more correlated in their expression profiles across human tissues than other metabolic genes. We obtained similar results in analyses of the same six tissues from chimps, gorillas, orangutans, and macaques. We suggest that when selective pressures remain stable across large evolutionary distances, evidence of selection in a given evolutionary lineage can become a highly reliable predictor of the signature of selection in another, even though the specific adaptive response in each lineage is markedly different. © The Author 2015. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Tuning to the significant: neural and genetic processes underlying affective enhancement of visual perception and memory.

    Science.gov (United States)

    Markovic, Jelena; Anderson, Adam K; Todd, Rebecca M

    2014-02-01

    Emotionally arousing events reach awareness more easily and evoke greater visual cortex activation than more mundane events. Recent studies have shown that they are also perceived more vividly and that emotionally enhanced perceptual vividness predicts memory vividness. We propose that affect-biased attention (ABA) - selective attention to emotionally salient events - is an endogenous attentional system tuned by an individual's history of reward and punishment. We present the Biased Attention via Norepinephrine (BANE) model, which unifies genetic, neuromodulatory, neural and behavioural evidence to account for ABA. We review evidence supporting BANE's proposal that a key mechanism of ABA is locus coeruleus-norepinephrine (LC-NE) activity, which interacts with activity in hubs of affective salience networks to modulate visual cortex activation and heighten the subjective vividness of emotionally salient stimuli. We further review literature on biased competition and look at initial evidence for its potential as a neural mechanism behind ABA. We also review evidence supporting the role of the LC-NE system as a driving force of ABA. Finally, we review individual differences in ABA and memory including differences in sensitivity to stimulus category and valence. We focus on differences arising from a variant of the ADRA2b gene, which codes for the alpha2b adrenoreceptor as a way of investigating influences of NE availability on ABA in humans. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Climate change underlies global demographic, genetic, and cultural transitions in pre-Columbian southern Peru.

    Science.gov (United States)

    Fehren-Schmitz, Lars; Haak, Wolfgang; Mächtle, Bertil; Masch, Florian; Llamas, Bastien; Cagigao, Elsa Tomasto; Sossna, Volker; Schittek, Karsten; Isla Cuadrado, Johny; Eitel, Bernhard; Reindel, Markus

    2014-07-01

    Several archaeological studies in the Central Andes have pointed at the temporal coincidence of climatic fluctuations (both long- and short-term) and episodes of cultural transition and changes of socioeconomic structures throughout the pre-Columbian period. Although most scholars explain the connection between environmental and cultural changes by the impact of climatic alterations on the capacities of the ecosystems inhabited by pre-Columbian cultures, direct evidence for assumed demographic consequences is missing so far. In this study, we address directly the impact of climatic changes on the spatial population dynamics of the Central Andes. We use a large dataset of pre-Columbian mitochondrial DNA sequences from the northern Rio Grande de Nasca drainage (RGND) in southern Peru, dating from ∼840 BC to 1450 AD. Alternative demographic scenarios are tested using Bayesian serial coalescent simulations in an approximate Bayesian computational framework. Our results indicate migrations from the lower coastal valleys of southern Peru into the Andean highlands coincident with increasing climate variability at the end of the Nasca culture at ∼640 AD. We also find support for a back-migration from the highlands to the coast coincident with droughts in the southeastern Andean highlands and improvement of climatic conditions on the coast after the decline of the Wari and Tiwanaku empires (∼1200 AD), leading to a genetic homogenization in the RGND and probably southern Peru as a whole.

  10. Genome-wide characterization of genetic variants and putative regions under selection in meat and egg-type chicken lines.

    Science.gov (United States)

    Boschiero, Clarissa; Moreira, Gabriel Costa Monteiro; Gheyas, Almas Ara; Godoy, Thaís Fernanda; Gasparin, Gustavo; Mariani, Pilar Drummond Sampaio Corrêa; Paduan, Marcela; Cesar, Aline Silva Mello; Ledur, Mônica Corrêa; Coutinho, Luiz Lehmann

    2018-01-25

    Meat and egg-type chickens have been selected for several generations for different traits. Artificial and natural selection for different phenotypes can change frequency of genetic variants, leaving particular genomic footprints throghtout the genome. Thus, the aims of this study were to sequence 28 chickens from two Brazilian lines (meat and white egg-type) and use this information to characterize genome-wide genetic variations, identify putative regions under selection using Fst method, and find putative pathways under selection. A total of 13.93 million SNPs and 1.36 million INDELs were identified, with more variants detected from the broiler (meat-type) line. Although most were located in non-coding regions, we identified 7255 intolerant non-synonymous SNPs, 512 stopgain/loss SNPs, 1381 frameshift and 1094 non-frameshift INDELs that may alter protein functions. Genes harboring intolerant non-synonymous SNPs affected metabolic pathways related mainly to reproduction and endocrine systems in the white-egg layer line, and lipid metabolism and metabolic diseases in the broiler line. Fst analysis in sliding windows, using SNPs and INDELs separately, identified over 300 putative regions of selection overlapping with more than 250 genes. For the first time in chicken, INDEL variants were considered for selection signature analysis, showing high level of correlation in results between SNP and INDEL data. The putative regions of selection signatures revealed interesting candidate genes and pathways related to important phenotypic traits in chicken, such as lipid metabolism, growth, reproduction, and cardiac development. In this study, Fst method was applied to identify high confidence putative regions under selection, providing novel insights into selection footprints that can help elucidate the functional mechanisms underlying different phenotypic traits relevant to meat and egg-type chicken lines. In addition, we generated a large catalog of line-specific and common

  11. Genetic parameters of rumination time and feed efficiency traits in primiparous Holstein cows under research and commercial conditions.

    Science.gov (United States)

    Byskov, M V; Fogh, A; Løvendahl, P

    2017-12-01

    Feed efficiency has the potential to be improved both through feeding, management, and breeding. Including feed efficiency in a selection index is limited by the fact that dry matter intake (DMI) recording is only feasible under research facilities, resulting in small data sets and, consequently, uncertain genetic parameter estimates. As a result, the need to record DMI indicator traits on a larger scale exists. Rumination time (RT), which is already recorded in commercial dairy herds by a sensor-based system, has been suggested as a potential DMI indicator. However, RT can only be a DMI indicator if it is heritable, correlates with DMI, and if the genetic parameters of RT in commercial herd settings are similar to those in research facilities. Therefore, the objective of our study was to estimate genetic parameters for RT and the related traits of DMI in primiparous Holstein cows, and to compare genetic parameters of rumination data between a research herd and 72 commercial herds. The estimated heritability values were all moderate for DMI (0.32-0.49), residual feed intake (0.23-0.36), energy-corrected milk (ECM) yield (0.49-0.70), and RT (0.14-0.44) found in the research herd. The estimated heritability values for ECM were lower for the commercial herds (0.08-0.35) than that for the research herd. The estimated heritability values for RT were similar for the 2 herd types (0.28-0.32). For the research herd, we found negative individual level correlations between RT and DMI (-0.24 to -0.09) and between RT and RFI (-0.34 to -0.03), and we found both positive and negative correlations between RT and ECM (-0.08 to 0.09). For the commercial herds, genetic correlations between RT and ECM were both positive and negative (-0.27 to 0.10). In conclusion, RT was not found to be a suitable indicator trait for feed intake and only a weak indicator of feed efficiency. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  12. Effects of CYP2C19 Genetic Polymorphisms on PK/PD Responses of Omeprazole in Korean Healthy Volunteers.

    Science.gov (United States)

    Park, Sunny; Hyun, Yang Jin; Kim, Yu Ran; Lee, Ju Hyun; Ryu, Sunae; Kim, Jeong Mi; Oh, Woo Yong; Na, Han Sung; Lee, Jong Gu; Seo, Doo Won; Hwang, In Yeong; Park, Zewon; Jang, In Jin; Oh, Jaeseong; Choi, Seung Eun

    2017-05-01

    The aim of this study was to examine the effects of CYP2C19*2 and *3 genetic polymorphisms on omeprazole pharmacokinetic (PK) and pharmacodynamic (PD) responses. Twenty-four healthy Korean volunteers were enrolled and given 20 mg omeprazole orally once daily for 8 days. The genotypes of CYP2C19 single nucleotide polymorphisms (SNPs) (*2, *3, and *17) were screened. The plasma concentrations of omeprazole, omeprazole sulfone, and 5-hydroxy (5-OH) omeprazole were determined by liquid chromatography with tandem mass spectrometry (LC-MS/MS). The noncompartmental method was used for the determination of PK parameters. Change of mean pH and proportion (%) of time of gastric pH above 4.0 were estimated. The poor metabolizer (PM) group had the lowest metabolic ratio and exhibited the highest area under the curve (AUC) for omeprazole among the CYP2C19 phenotype groups. The PM group showed the greatest change of mean pH and the highest % time of gastric pH above 4.0. The relationship between AUC of omeprazole and % time of gastric pH above 4.0 was confirmed. The study demonstrates that CYP2C19*2 and *3 influence the PKs and PDs of omeprazole in Korean healthy volunteers. © 2017 The Korean Academy of Medical Sciences.

  13. Novel genetic loci underlying human intracranial volume identified through genome-wide association

    OpenAIRE

    Adams, Hieab HH; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Renter��a, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivi��res, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija

    2016-01-01

    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjus...

  14. Rapid Genetic Adaptation during the First Four Months of Survival under Resource Exhaustion.

    Science.gov (United States)

    Avrani, Sarit; Bolotin, Evgeni; Katz, Sophia; Hershberg, Ruth

    2017-07-01

    Many bacteria, including the model bacterium Escherichia coli can survive for years within spent media, following resource exhaustion. We carried out evolutionary experiments, followed by whole genome sequencing of hundreds of evolved clones to study the dynamics by which E. coli adapts during the first 4 months of survival under resource exhaustion. Our results reveal that bacteria evolving under resource exhaustion are subject to intense selection, manifesting in rapid mutation accumulation, enrichment in functional mutation categories and extremely convergent adaptation. In the most striking example of convergent adaptation, we found that across five independent populations adaptation to conditions of resource exhaustion occurs through mutations to the three same specific positions of the RNA polymerase core enzyme. Mutations to these three sites are strongly antagonistically pleiotropic, in that they sharply reduce exponential growth rates in fresh media. Such antagonistically pleiotropic mutations, combined with the accumulation of additional mutations, severely reduce the ability of bacteria surviving under resource exhaustion to grow exponentially in fresh media. We further demonstrate that the three positions at which these resource exhaustion mutations occur are conserved for the ancestral E. coli allele, across bacterial phyla, with the exception of nonculturable bacteria that carry the resource exhaustion allele at one of these positions, at very high frequencies. Finally, our results demonstrate that adaptation to resource exhaustion is not limited by mutational input and that bacteria are able to rapidly adapt under resource exhaustion in a temporally precise manner through allele frequency fluctuations. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  15. Grammatical markers switch roles and elicit different electrophysiological responses under shallow and deep semantic requirements

    Directory of Open Access Journals (Sweden)

    Takahiro Soshi

    2016-10-01

    Full Text Available Static knowledge about the grammar of a natural language is represented in the cortico-subcortical system. However, the differences in dynamic verbal processing under different cognitive conditions are unclear. To clarify this, we conducted an electrophysiological experiment involving a semantic priming paradigm in which semantically congruent or incongruent word sequences (prime nouns–target verbs were randomly presented. We examined the event-related brain potentials that occurred in response to congruent and incongruent target words that were preceded by primes with or without grammatical case markers. The two participant groups performed either the shallow (lexical judgment or deep (direct semantic judgment semantic tasks. We hypothesized that, irrespective of the case markers, the congruent targets would reduce centro-posterior N400 activities under the deep semantic condition, which induces selective attention to the semantic relatedness of content words. However, the same congruent targets with correct case markers would reduce lateralized negativity under the shallow semantic condition because grammatical case markers are related to automatic structural integration under semantically unattended conditions. We observed that congruent targets (e.g., ‘open' that were preceded by primes with congruent case markers (e.g., ‘shutter-object case' reduced lateralized negativity under the shallow semantic condition. In contrast, congruent targets, irrespective of case markers, consistently yielded N400 reductions under the deep semantic condition. To summarize, human neural verbal processing differed in response to the same grammatical markers in the same verbal expressions under semantically attended or unattended conditions.

  16. Induction of competence for genetic transformation by antibiotics: convergent evolution of stress responses in distant bacterial species lacking SOS?

    Science.gov (United States)

    Charpentier, Xavier; Polard, Patrice; Claverys, Jean-Pierre

    2012-10-01

    Bacterial transformation is a programmed process resulting in genetic transfer and diversity. It relies on the development of competence via regulatory circuits which are diverse and tailored to the particular lifestyle of each species. Despite this diversity, some species have been reported to trigger competence in response to antibiotics. Here, we review these recent findings, which reinforce the view that competence is a stress response and can substitute for SOS in bacteria lacking it. Copyright © 2012 Elsevier Ltd. All rights reserved.

  17. Genetic Liability, Environment, and the Development of Fussiness in Toddlers: The Roles of Maternal Depression and Parental Responsiveness

    Science.gov (United States)

    Natsuaki, Misaki N.; Ge, Xiaojia; Leve, Leslie D.; Neiderhiser, Jenae M.; Shaw, Daniel S.; Conger, Rand D.; Scaramella, Laura V.; Reid, John B.; Reiss, David

    2010-01-01

    Using a longitudinal, prospective adoption design, the authors of this study examined the effects of the environment (adoptive parents' depressive symptoms and responsiveness) and genetic liability of maternal depression (inferred by birth mothers' major depressive disorder [MDD]) on the development of fussiness in adopted children between 9 and…

  18. Confirmation of an IRAK3 polymorphism as a genetic marker predicting response to anti-TNF treatment in rheumatoid arthritis

    DEFF Research Database (Denmark)

    Sode, Jacob; Vogel, U; Bank, Steffen

    2018-01-01

    Several genetic variants in Toll-like receptor (TLR) and nuclear factor (NF)-κB signalling pathways have been reported associated with responsiveness to tumour necrosis factor inhibitor (anti-TNF) treatment in rheumatoid arthritis (RA). The present study was undertaken to replicate these findings...... online publication, 4 October 2016; doi:10.1038/tpj.2016.66....

  19. Classical genetic analyses of responses to nicotine and ethanol in crosses derived from long- and short-sleep mice.

    Science.gov (United States)

    de Fiebre, C M; Collins, A C

    1992-04-01

    A classical (Mendelian) genetic analysis of responses to ethanol and nicotine was conducted in crosses derived from mouse lines which were selectively bred for differential duration of loss of the righting response (sleep-time) after ethanol. Dose-response curves for these mice, the long- and short-sleep mouse lines, as well as the derived F1, F2 and backcross (F1 x long-sleep and F1 x short-sleep) generations were generated for several measures of nicotine and ethanol sensitivity. Ethanol sensitivity was assessed using the sleep-time measure. Nicotine sensitivity was tested using a battery of behavioral and physiological tests which included measures of seizure activity, respiration rate, acoustic startle response, Y-maze activities (both crossing and rearing activities), heart rate and body temperature. The inheritance of sensitivities to both of these agents appears to be polygenic and inheritance can be explained primarily by additive genetic effects with some epistasis. Sensitivity to the ethanol sleep-time measure was genetically correlated with sensitivity to both nicotine-induced hypothermia and seizures; the correlation was greater between sleep-time and hypothermia. These data indicate that there is overlap in the genetic regulation of sensitivity to both ethanol and nicotine as measured by some, but not all, tests.

  20. Numerical thermal analysis and optimization of multi-chip LED module using response surface methodology and genetic algorithm

    NARCIS (Netherlands)

    Tang, Hong Yu; Ye, Huai Yu; Chen, Xian Ping; Qian, Cheng; Fan, Xue Jun; Zhang, G.Q.

    2017-01-01

    In this paper, the heat transfer performance of the multi-chip (MC) LED module is investigated numerically by using a general analytical solution. The configuration of the module is optimized with genetic algorithm (GA) combined with a response surface methodology. The space between chips, the

  1. The Response of Blind and Partially Sighted Teenagers to Genetic Counselling: First Study in the West Midlands.

    Science.gov (United States)

    Porter, Janice A.; And Others

    1989-01-01

    The article describes the response of 55 blind and partially sighted teenagers to genetic counseling and outlines their knowledge of their disability and their attitudes towards marriage and parenthood. It was concluded that the counseling was not cost-effective though such services were welcomed by the teenagers. (Author/DB)

  2. Genetic variations of PIP4K2A confer vulnerability to poor antipsychotic response in severely ill schizophrenia patients.

    Directory of Open Access Journals (Sweden)

    Harpreet Kaur

    incomplete responders with low severity (OR = 4.09, 95%-CI = 2.09-8.02. Our findings provide strong evidence that diplotype ATTGCT/ATTGCT of PIP4K2A gene conferred approximately three-times higher incomplete responsiveness towards antipsychotics in severely ill patients. These results are consistent with the known role of phosphatidyl-inositol-signaling elements in antipsychotic action and outcome. Findings have implication for future molecular genetic studies as well as personalized medicine. However more work is warranted to elucidate underlying causal biological pathway.

  3. Cellular, Molecular, and Genetic Substrates Underlying the Impact of Nicotine on Learning

    Science.gov (United States)

    Gould, Thomas J.; Leach, Prescott T.

    2013-01-01

    deficits in learning, and 4) the role of genetics and developmental stage (i.e., adolescence) in these effects. PMID:23973448

  4. Population size drives industrial Saccharomyces cerevisiae alcoholic fermentation and is under genetic control.

    Science.gov (United States)

    Albertin, Warren; Marullo, Philippe; Aigle, Michel; Dillmann, Christine; de Vienne, Dominique; Bely, Marina; Sicard, Delphine

    2011-04-01

    Alcoholic fermentation (AF) conducted by Saccharomyces cerevisiae has been exploited for millennia in three important human food processes: beer and wine production and bread leavening. Most of the efforts to understand and improve AF have been made separately for each process, with strains that are supposedly well adapted. In this work, we propose a first comparison of yeast AFs in three synthetic media mimicking the dough/wort/grape must found in baking, brewing, and wine making. The fermentative behaviors of nine food-processing strains were evaluated in these media, at the cellular, populational, and biotechnological levels. A large variation in the measured traits was observed, with medium effects usually being greater than the strain effects. The results suggest that human selection targeted the ability to complete fermentation for wine strains and trehalose content for beer strains. Apart from these features, the food origin of the strains did not significantly affect AF, suggesting that an improvement program for a specific food processing industry could exploit the variability of strains used in other industries. Glucose utilization was analyzed, revealing plastic but also genetic variation in fermentation products and indicating that artificial selection could be used to modify the production of glycerol, acetate, etc. The major result was that the overall maximum CO(2) production rate (V(max)) was not related to the maximum CO(2) production rate per cell. Instead, a highly significant correlation between V(max) and the maximum population size was observed in all three media, indicating that human selection targeted the efficiency of cellular reproduction rather than metabolic efficiency. This result opens the way to new strategies for yeast improvement.

  5. Population Size Drives Industrial Saccharomyces cerevisiae Alcoholic Fermentation and Is under Genetic Control▿†‡

    Science.gov (United States)

    Albertin, Warren; Marullo, Philippe; Aigle, Michel; Dillmann, Christine; de Vienne, Dominique; Bely, Marina; Sicard, Delphine

    2011-01-01

    Alcoholic fermentation (AF) conducted by Saccharomyces cerevisiae has been exploited for millennia in three important human food processes: beer and wine production and bread leavening. Most of the efforts to understand and improve AF have been made separately for each process, with strains that are supposedly well adapted. In this work, we propose a first comparison of yeast AFs in three synthetic media mimicking the dough/wort/grape must found in baking, brewing, and wine making. The fermentative behaviors of nine food-processing strains were evaluated in these media, at the cellular, populational, and biotechnological levels. A large variation in the measured traits was observed, with medium effects usually being greater than the strain effects. The results suggest that human selection targeted the ability to complete fermentation for wine strains and trehalose content for beer strains. Apart from these features, the food origin of the strains did not significantly affect AF, suggesting that an improvement program for a specific food processing industry could exploit the variability of strains used in other industries. Glucose utilization was analyzed, revealing plastic but also genetic variation in fermentation products and indicating that artificial selection could be used to modify the production of glycerol, acetate, etc. The major result was that the overall maximum CO2 production rate (Vmax) was not related to the maximum CO2 production rate per cell. Instead, a highly significant correlation between Vmax and the maximum population size was observed in all three media, indicating that human selection targeted the efficiency of cellular reproduction rather than metabolic efficiency. This result opens the way to new strategies for yeast improvement. PMID:21357433

  6. Microbial and genetic ecology of tropical Vertisols under intensive chemical farming.

    Science.gov (United States)

    Malhotra, Jaya; Aparna, K; Dua, Ankita; Sangwan, Naseer; Trimurtulu, N; Rao, D L N; Lal, Rup

    2015-01-01

    There are continued concerns on unscientific usage of chemical fertilizers and pesticides, particularly in many developing countries leading to adverse consequences for soil biological quality and agricultural sustainability. In farmers' fields in tropical Vertisols of peninsular India, "high" fertilizer and pesticide usage at about 2.3 times the recommended rates in black gram (Vigna mungo) did not have a deleterious effect on the abundance of culturable microorganisms, associative nitrogen fixers, nitrifiers, and 16S rRNA gene diversity compared to normal rates. However, "very high" application at about five times the fertilizers and 1.5 times pesticides in chilies (Capsicum annuum) adversely affected the populations of fungi, actinomycetes, and ammonifiers, along with a drastic change in the eubacterial community profile and diversity over normal rates. Actinobacteria were dominant in black gram normal (BG1) (47%), black gram high (BG2) (36%), and chili normal (CH1) (30%) and were least in chili very high (CH2) (14%). Geodermatophilus formed 20% of Actinobacteria in BG1 but disappeared in BG2, CH1, and CH2. Asticcacaulis dominated at "very high" input site (CH2). Diversity of nitrogen fixers was completely altered; Dechloromonas and Anaeromyxobacter were absent in BG1 but proliferated well in BG2. There was reduction in rhizobial nifH sequences in BG2 by 46%. Phylogenetic differences characterized by UniFrac and principal coordinate analysis showed that BG2 and CH2 clustered together depicting a common pattern of genetic shift, while BG1 and CH1 fell at different axis. Overall, there were adverse consequences of "very high" fertilizer and pesticide usage on soil microbial diversity and function in tropical Vertisols.

  7. 30 CFR 285.105 - What are my responsibilities under this part?

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 2 2010-07-01 2010-07-01 false What are my responsibilities under this part? 285.105 Section 285.105 Mineral Resources MINERALS MANAGEMENT SERVICE, DEPARTMENT OF THE INTERIOR OFFSHORE RENEWABLE ENERGY ALTERNATE USES OF EXISTING FACILITIES ON THE OUTER CONTINENTAL SHELF General...

  8. 75 FR 14184 - Notice of Proposed Consent Decree Under the Comprehensive Environmental Response, Compensation...

    Science.gov (United States)

    2010-03-24

    ... Response, Compensation, and Liability Act Notice is hereby given that on March 18, 2010, the United States... her capacity as personal representative of the Estate, under CERCLA Section 107(a), 42 U.S.C. 9607(a... Consent Decree resolves the claims in the Complaint against the Estate and Barbara C. Harker, in her...

  9. 34 CFR 79.4 - What are the Secretary's general responsibilities under the Order?

    Science.gov (United States)

    2010-07-01

    ... 34 Education 1 2010-07-01 2010-07-01 false What are the Secretary's general responsibilities under... INTERGOVERNMENTAL REVIEW OF DEPARTMENT OF EDUCATION PROGRAMS AND ACTIVITIES § 79.4 What are the Secretary's general... state and local elected official's concerns with proposed federal financial assistance that are...

  10. 45 CFR 1152.4 - What are the Chairman's general responsibilities under the Order?

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 3 2010-10-01 2010-10-01 false What are the Chairman's general responsibilities under the Order? 1152.4 Section 1152.4 Public Welfare Regulations Relating to Public Welfare (Continued... OF NATIONAL ENDOWMENT FOR THE ARTS PROGRAMS AND ACTIVITIES § 1152.4 What are the Chairman's general...

  11. 75 FR 30859 - Notice of Lodging of Consent Decree Under the Comprehensive Environmental Response, Compensation...

    Science.gov (United States)

    2010-06-02

    ... Liability Act Notice is hereby given that on May 25,2010, a proposed Consent Decree (``Decree'') in United States v. Sensient Colors Inc., Civil Action No.07cv1275, was lodged with the United States District... Colors Inc. (``Sensient'') under the Comprehensive Environmental Response, Compensation and Liability Act...

  12. Brain activation for response inhibition under gaming cue distraction in internet gaming disorder

    Directory of Open Access Journals (Sweden)

    Gin-Chung Liu

    2014-01-01

    Full Text Available We evaluated neural substrates related to the loss of control in college students with internet gaming disorder (IGD. We hypothesized that deficit in response inhibition under gaming cue distraction was the possible mechanism for the loss of control internet use. Eleven cases of IGD and 11 controls performed Go/NoGo tasks with/without gaming distraction in the functional magnetic resonance imaging scanner. When the gaming picture was shown as background while individuals were performing Go/NoGo tasks, the IGD group committed more commission errors. The control group increased their brain activations more over the right dorsolateral prefrontal cortex (DLPFC and superior parietal lobe under gaming cue distraction in comparison with the IGD group. Furthermore, brain activation of the right DLPFC and superior parietal lobe were negatively associated with performance of response inhibition among the IGD group. The results suggest that the function of response inhibition was impaired under gaming distraction among the IGD group, and individuals with IGD could not activate right DLPFC and superior parietal lobe to keep cognitive control and attention allocation for response inhibition under gaming cue distraction. This mechanism should be addressed in any intervention for IGD.

  13. Effect of the foundation stiffness on the response of a seismically isolated tank under SSE conditions

    NARCIS (Netherlands)

    Esposito, G.; Courage, W.

    2003-01-01

    This paper presents the results of a feasibility study of a seismic isolated 120.000 m3 LNG tank. A simple model was used to evaluate the seismic response of the isolated tank under Safe Shutdown Earthquake conditions. The frequency dependent dynamic stiffness of the foundation was

  14. ABA-mediated responses to water deficit separate grapevine genotypes by their genetic background.

    Science.gov (United States)

    Rossdeutsch, Landry; Edwards, Everard; Cookson, Sarah J; Barrieu, François; Gambetta, Gregory A; Delrot, Serge; Ollat, Nathalie

    2016-04-18

    ABA-mediated processes are involved in plant responses to water deficit, especially the control of stomatal opening. However in grapevine it is not known if these processes participate in the phenotypic variation in drought adaptation existing between genotypes. To elucidate this question, the response to short-term water-deficit was analysed in roots and shoots of nine Vitis genotypes differing in their drought adaptation in the field. The transcript abundance of 12 genes involved in ABA biosynthesis, catabolism, and signalling were monitored, together with physiological and metabolic parameters related to ABA and its role in controlling plant transpiration. Although transpiration and ABA responses were well-conserved among the genotypes, multifactorial analyses separated Vitis vinifera varieties and V. berlandieri x V. rupestris hybrids (all considered drought tolerant) from the other genotypes studied. Generally, V. vinifera varieties, followed by V. berlandieri x V. rupestris hybrids, displayed more pronounced responses to water-deficit in comparison to the other genotypes. However, changes in transcript abundance in roots were more pronounced for Vitis hybrids than V. vinifera genotypes. Changes in the expression of the cornerstone ABA biosynthetic gene VviNCED1, and the ABA transcriptional regulator VviABF1, were associated with the response of V. vinifera genotypes, while changes in VviNCED2 abundance were associated with the response of other Vitis genotypes. In contrast, the ABA RCAR receptors were not identified as key components of the genotypic variability of water-deficit responses. Interestingly, the expression of VviSnRK2.6 (an AtOST1 ortholog) was constitutively lower in roots and leaves of V. vinifera genotypes and higher in roots of V. berlandieri x V. rupestris hybrids. This study highlights that Vitis genotypes exhibiting different levels of drought adaptation differ in key steps involved in ABA metabolism and signalling; both under well

  15. Response analysis of curved bridge with unseating failure control system under near-fault ground motions

    Science.gov (United States)

    Zuo, Ye; Sun, Guangjun; Li, Hongjing

    2018-01-01

    Under the action of near-fault ground motions, curved bridges are prone to pounding, local damage of bridge components and even unseating. A multi-scale fine finite element model of a typical three-span curved bridge is established by considering the elastic-plastic behavior of piers and pounding effect of adjacent girders. The nonlinear time-history method is used to study the seismic response of the curved bridge equipped with unseating failure control system under the action of near-fault ground motion. An in-depth analysis is carried to evaluate the control effect of the proposed unseating failure control system. The research results indicate that under the near-fault ground motion, the seismic response of the curved bridge is strong. The unseating failure control system perform effectively to reduce the pounding force of the adjacent girders and the probability of deck unseating.

  16. Genetic drift evolution under vaccination pressure among H5N1 Egyptian isolates

    Directory of Open Access Journals (Sweden)

    Afifi Manal A

    2011-06-01

    Egypt. Egyptian H5N1-AIVs are constantly undergoing genetic changes and reveal a complex pattern of drifts. These findings raise the concerns about the value of using influenza vaccines in correlation with the development of antigenic drift in influenza epidemics.

  17. Response properties of the genetically encoded optical H2O2 sensor HyPer.

    Science.gov (United States)

    Weller, Jonathan; Kizina, Kathrin M; Can, Karolina; Bao, Guobin; Müller, Michael

    2014-11-01

    Reactive oxygen species mediate cellular signaling and neuropathologies. Hence, there is tremendous interest in monitoring (sub)cellular redox conditions. We evaluated the genetically engineered redox sensor HyPer in mouse hippocampal cell cultures. Two days after lipofection, neurons and glia showed sufficient expression levels, and H2O2 reversibly and dose-dependently increased the fluorescence ratio of cytosolic HyPer. Yet, repeated H2O2 treatment caused progressively declining responses, and with millimolar doses an apparent recovery started while H2O2 was still present. Although HyPer should be H2O2 specific, it seemingly responded also to other oxidants and altered cell-endogenous superoxide production. Control experiments with the SypHer pH sensor confirmed that the HyPer ratio responds to pH changes, decreasing with acidosis and increasing during alkalosis. Anoxia/reoxygenation evoked biphasic HyPer responses reporting apparent reduction/oxidation; replacing Cl(-) exerted only negligible effects. Mitochondria-targeted HyPer readily responded to H2O2-albeit less intensely than cytosolic HyPer. With ratiometric two-photon excitation, H2O2 increased the cytosolic HyPer ratio. Time-correlated fluorescence-lifetime imaging microscopy (FLIM) revealed a monoexponential decay of HyPer fluorescence, and H2O2 decreased fluorescence lifetimes. Dithiothreitol failed to further reduce HyPer or to induce reasonable FLIM and two-photon responses. By enabling dynamic recordings, HyPer is superior to synthetic redox-sensitive dyes. Its feasibility for two-photon excitation also enables studies in more complex preparations. Based on FLIM, quantitative analyses might be possible independent of switching excitation wavelengths. Yet, because of its pronounced pH sensitivity, adaptation to repeated oxidation, and insensitivity to reducing stimuli, HyPer responses have to be interpreted carefully. For reliable data, side-by-side pH monitoring with SypHer is essential. Copyright

  18. Test-retest reliability of the underlying latent factor structure of alcohol subjective response.

    Science.gov (United States)

    Lutz, Joseph A; Childs, Emma

    2017-04-01

    Alcohol subjective experiences are multi-dimensional and demonstrate wide inter-individual variability. Recent efforts have sought to establish a clearer understanding of subjective alcohol responses by identifying core constructs derived from multiple measurement instruments. The aim of this study was to evaluate the temporal stability of this approach to conceptualizing alcohol subjective experiences across successive alcohol administrations in the same individuals. Healthy moderate alcohol drinkers (n = 104) completed six experimental sessions each, three with alcohol (0.8 g/kg), and three with a non-alcoholic control beverage. Participants reported subjective mood and drug effects using standardized questionnaires before and at repeated times after beverage consumption. We explored the underlying latent structure of subjective responses for all alcohol administrations using exploratory factor analysis and then tested measurement invariance over the three successive administrations using multi-group confirmatory factor analyses. Exploratory factor analyses on responses to alcohol across all administrations yielded four factors representing "Positive mood," "Sedation," "Stimulation/Euphoria," and "Drug effects and Urges." A confirmatory factor analysis on the separate administrations indicated acceptable configural and metric invariance and moderate scalar invariance. In this study, we demonstrate temporal stability of the underlying constructs of subjective alcohol responses derived from factor analysis. These findings strengthen the utility of this approach to conceptualizing subjective alcohol responses especially for use in prospective and longitudinal alcohol challenge studies relating subjective response to alcohol use disorder risk.

  19. Genetically modified corn on fall armyworm and earwig populations under field conditions

    Directory of Open Access Journals (Sweden)

    Marina Regina Frizzas

    2014-02-01

    Full Text Available The effects of corn MON810 on the Spodoptera frugiperda (J.E. Smith and the earwig Doru luteipes (Scudder were tested under field conditions in Brazil. Results from MON810 corn fields were compared with those fields of conventional corn with and without the application of insecticides in four harvests in the region of Barretos, SP. It was assessed the damage to S. frugiperda via direct counts of the number of fall armyworms and adults and nymphs of the predator D. luteipes on corn plants. The rate of S. frugiperda damage and the average numbers of larvae (large and small were lower in the MON810 corn field relative to the control plot. There were no differences (P>0.05 between treatments regarding the predator abundance in corn plants. The second crop season ("safrinha" showed the greatest extent of S. frugiperda damage and the lowest average abundance of earwigs. MON810 was effective in controlling S. frugiperda and abundance of predator D. luteipes was similar in the three treatments under field conditions.

  20. Modeling lodgepole pine radial growth relative to climate and genetics using universal growth-trend response functions.

    Science.gov (United States)

    McLane, Sierra C; LeMay, Valerie M; Aitken, Sally N

    2011-04-01

    Forests strongly affect Earth's carbon cycles, making our ability to forecast forest-productivity changes associated with rising temperatures and changes in precipitation increasingly critical. In this study, we model the influence of climate on annual radial growth using lodgepole pine (Pinus contorta) trees grown for 34 years in a large provenance experiment in western Canada. We use a random-coefficient modeling approach to build universal growth-trend response functions that simultaneously incorporate the impacts of different provenance and site climates on radial growth trends under present and future annual (growth-year), summer, and winter climate regimes. This approach provides new depth to traditional quantitative genetics population response functions by illustrating potential changes in population dominance over time, as well as indicating the age and size at which annual growth begins declining for any population growing in any location under any present or future climate scenario within reason, given the ages and climatic conditions sampled. Our models indicate that lodgepole pine radial-growth levels maximize between 3.9 degrees and 5.1 degrees C mean growth-year temperature. This translates to productivity declining by the mid-21st century in southern and central British Columbia (BC), while increasing beyond the 2080s in northern BC and Yukon, as temperatures rise. Relative to summer climate indices, productivity is predicted to decline continuously through the 2080s in all locations, while relative to winter climate variables, the opposite trend occurs, with the growth increases caused by warmer winters potentially offsetting the summer losses. Trees from warmer provenances, i.e., from the center of the species range, perform best in nearly all of our present and future climate-scenario models. We recommend that similar models be used to analyze population growth trends relative to annual and intra-annual climate in other large-scale provenance

  1. Methodology for estimating realistic responses of buildings and components under earthquake motion and its application

    International Nuclear Information System (INIS)

    Ebisawa, Katsumi; Abe, Kiyoharu; Kohno, Kunihiko; Nakamura, Hidetaka; Itoh, Mamoru.

    1996-11-01

    Failure probabilities of buildings and components under earthquake motion are estimated as conditional probabilities that their realistic responses exceed their capacities. Two methods for estimating their failure probabilities have already been developed. One is a detailed method developed in the Seismic Safety margins Research Program of Lawrence Livermore National Laboratory in U.S.A., which is called 'SSMRP method'. The other is a simplified method proposed by Kennedy et al., which is called 'Zion method'. The Zion method is sometimes called 'response factor method'. The authors adopted the response factor method. In order to enhance the estimation accuracy of failure probabilities of buildings and components, however, a new methodology for improving the response factor method was proposed. Based on the improved method, response factors of buildings and components designed to seismic design standard in Japan were estimated, and their realistic responses were also calculated. By using their realistic responses and capacities, the failure probabilities of a reactor building and relays were estimated. In order to identify the difference between new method, SSMRP method and original response factor method, the failure probabilities were compared estimated by these three methods. A similar method of SSMRP was used instead of the original SSMRP for saving time and labor. The viewpoints for selecting the methods to estimate failure probabilities of buildings and components were also proposed. (author). 55 refs

  2. Response to Antenatal Cholecalciferol Supplementation Is Associated With Common Vitamin D-Related Genetic Variants.

    Science.gov (United States)

    Moon, Rebecca J; Harvey, Nicholas C; Cooper, Cyrus; D'Angelo, Stefania; Curtis, Elizabeth M; Crozier, Sarah R; Barton, Sheila J; Robinson, Sian M; Godfrey, Keith M; Graham, Nikki J; Holloway, John W; Bishop, Nicholas J; Kennedy, Stephen; Papageorghiou, Aris T; Schoenmakers, Inez; Fraser, Robert; Gandhi, Saurabh V; Prentice, Ann; Inskip, Hazel M; Javaid, M Kassim

    2017-08-01

    Single-nucleotide polymorphisms (SNPs) in genes related to vitamin D metabolism have been associated with serum 25-hydroxyvitamin D [25(OH)D] concentration, but these relationships have not been examined following antenatal cholecalciferol supplementation. To determine whether SNPs in DHCR7, CYP2R1, CYP24A1, and GC are associated with the response to gestational cholecalciferol supplementation. Within-randomization group analysis of the Maternal Vitamin D Osteoporosis Study trial of antenatal cholecalciferol supplementation. Hospital antenatal clinics. In total, 682 women of white ethnicity (351 placebo, 331 cholecalciferol) were included. SNPs at rs12785878 (DHCR7), rs10741657 (CYP2R1), rs6013897 (CYP24A1), and rs2282679 (GC) were genotyped. 1000 IU/d cholecalciferol from 14 weeks of gestation until delivery. 25(OH)D at randomization and 34 weeks of gestation were measured in a single batch (Liaison; Diasorin, Dartford, UK). Associations between 25(OH)D and the SNPs were assessed by linear regression using an additive model [β represents the change in 25(OH)D per additional common allele]. Only rs12785878 (DHCR7) was associated with baseline 25(OH)D [β = 3.1 nmol/L; 95% confidence interval (CI), 1.0 to 5.2 nmol/L; P D status following supplementation, whereas rs12785878 and rs6013897 (CYP24A1) were not. Genetic variation in DHCR7, which encodes 7-dehyrocholesterol reductase in the epidermal vitamin D biosynthesis pathway, appears to modify baseline 25(OH)D. In contrast, the response to antenatal cholecalciferol supplementation was associated with SNPs in CYP2R1, which may alter 25-hydroxylase activity, and GC, which may affect vitamin D binding protein synthesis or metabolite affinity. Copyright © 2017 Endocrine Society

  3. Genetic and biochemical markers of hydroxyurea therapeutic response in sickle cell anemia.

    Science.gov (United States)

    Silva, Danilo Grunig Humberto; Belini Junior, Edis; Carrocini, Gisele Cristine de Souza; Torres, Lidiane de Souza; Ricci Júnior, Octávio; Lobo, Clarisse Lopes de Castro; Bonini-Domingos, Claudia Regina; de Almeida, Eduardo Alves

    2013-10-09

    Sickle cell anemia (SCA) presents a complex pathophysiology which can be affected by a number of modifying factors, including genetic and biochemical ones. In Brazil, there have been no studies verifying βS-haplotypes effect on oxidative stress parameters. This study evaluated βS-haplotypes and Hb F levels effects on oxidative stress markers and their relationship with hydroxyurea (HU) treatment in SCA patients. The studied group was composed by 28 SCA patients. Thirteen of these patients were treated with HU and 15 of them were not. We used molecular methodology (PCR-RFLP) for hemoglobin S genotype confirmation and haplotypes identification. Biochemical parameters were measured using spectrophotometric methods (Thiobarbituric-acid-reactive substances and Trolox equivalent antioxidant capacity levels, catalase and GST activities) and plasma glutathione levels by High-performance liquid chromatography coupled to electrochemical detection. We found the highest frequency of Bantu haplotype (48.2%) which was followed by Benin (32.1%). We observed also the presence of Cameroon haplotype, rare in Brazilian population and 19.7% of atypical haplotypes. The protective Hb F effect was confirmed in SCA patients because these patients showed an increase in Hb F levels that resulted in a 41.3% decrease on the lipid peroxidation levels (r =-0.74, p=0.01). Other biochemical parameters have not shown differential expression according to patient's haplotypes. Bantu haplotype presence was related to the highest lipid peroxidation levels in patients (p < 0,01), but it also conferred a differential response to HU treatment, raising Hb F levels in 52.6% (p = 0.03) when compared with the group with the same molecular profile without HU usage. SCA patients with Bantu haplotype showed the worst oxidative status. However these patients also demonstrated a better response to the treatment with HU. Such treatment seems to have presented a "haplotype-dependent" pharmacological

  4. Temporal genetic stability in natural populations of the waterflea Daphnia magna in response to strong selection pressure.

    Science.gov (United States)

    Orsini, Luisa; Marshall, Hollie; Cuenca Cambronero, Maria; Chaturvedi, Anurag; Thomas, Kelley W; Pfrender, Michael E; Spanier, Katina I; De Meester, Luc

    2016-12-01

    Studies monitoring changes in genetic diversity and composition through time allow a unique understanding of evolutionary dynamics and persistence of natural populations. However, such studies are often limited to species with short generation times that can be propagated in the laboratory or few exceptional cases in the wild. Species that produce dormant stages provide powerful models for the reconstruction of evolutionary dynamics in the natural environment. A remaining open question is to what extent dormant egg banks are an unbiased representation of populations and hence of the species' evolutionary potential, especially in the presence of strong environmental selection. We address this key question using the water flea Daphnia magna, which produces dormant stages that accumulate in biological archives over time. We assess temporal genetic stability in three biological archives, previously used in resurrection ecology studies showing adaptive evolutionary responses to rapid environmental change. We show that neutral genetic diversity does not decline with the age of the population and it is maintained in the presence of strong selection. In addition, by comparing temporal genetic stability in hatched and unhatched populations from the same biological archive, we show that dormant egg banks can be consulted to obtain a reliable measure of genetic diversity over time, at least in the multidecadal time frame studied here. The stability of neutral genetic diversity through time is likely mediated by the buffering effect of the resting egg bank. © 2016 John Wiley & Sons Ltd.

  5. Genetically encoded ratiometric fluorescent thermometer with wide range and rapid response.

    Directory of Open Access Journals (Sweden)

    Masahiro Nakano

    Full Text Available Temperature is a fundamental physical parameter that plays an important role in biological reactions and events. Although thermometers developed previously have been used to investigate several important phenomena, such as heterogeneous temperature distribution in a single living cell and heat generation in mitochondria, the development of a thermometer with a sensitivity over a wide temperature range and rapid response is still desired to quantify temperature change in not only homeotherms but also poikilotherms from the cellular level to in vivo. To overcome the weaknesses of the conventional thermometers, such as a limitation of applicable species and a low temporal resolution, owing to the narrow temperature range of sensitivity and the thermometry method, respectively, we developed a genetically encoded ratiometric fluorescent temperature indicator, gTEMP, by using two fluorescent proteins with different temperature sensitivities. Our thermometric method enabled a fast tracking of the temperature change with a time resolution of 50 ms. We used this method to observe the spatiotemporal temperature change between the cytoplasm and nucleus in cells, and quantified thermogenesis from the mitochondria matrix in a single living cell after stimulation with carbonyl cyanide 4-(trifluoromethoxyphenylhydrazone, which was an uncoupler of oxidative phosphorylation. Moreover, exploiting the wide temperature range of sensitivity from 5°C to 50°C of gTEMP, we monitored the temperature in a living medaka embryo for 15 hours and showed the feasibility of in vivo thermometry in various living species.

  6. Genetic and physiological responses of three freshwater diatoms to realistic diuron exposures.

    Science.gov (United States)

    Moisset, S; Kim Tiam, S; Feurtet-Mazel, A; Morin, S; Delmas, F; Mazzella, N; Gonzalez, P

    2015-03-01

    This study examined the effects of diuron on strains of three major freshwater diatom species, Eolimna minima, Nitzschia palea and Planothidium lanceolatum. These species are frequently recorded in the Morcille River, where diuron runs off during phytosanitary treatments of the vineyards around. Here, there were three diatom exposure groups for each species: 0, 1 and 10 μg/L diuron during a 14-day laboratory assessment. Diuron water concentration, cell number, photosynthetic activity and gene expression were assessed at 6 h and 2, 7 and 14 days after contamination. Diuron exposure altered photosynthetic activity in that the optimal quantum yield of photosystem II (PSII) decreased between 40 and 50% and, for P. lanceolatum at 10 μg/L, there was complete inhibition. Genetic responses indicated diuron effects on both photosystem II and mitochondrial metabolism in all three species at both diuron exposure levels. Thus, analysis of the expression of psaA, d1, cox1, nad5 and 12s could be an early biomarker to detect pesticide pollution. Overall, this study revealed differences in diuron sensitivity among the three species: E. minima and N. palea appeared to be more tolerant than P. lanceolatum. These results suggest that the development of molecular tools, and more precisely of biomarkers, will aid in early assessment of contamination and water quality.

  7. Virulence Differences among Melissococcus plutonius Strains with Different Genetic Backgrounds in Apis mellifera Larvae under an Improved Experimental Condition.

    Science.gov (United States)

    Nakamura, Keiko; Yamazaki, Yuko; Shiraishi, Akiyo; Kobayashi, Sota; Harada, Mariko; Yoshiyama, Mikio; Osaki, Makoto; Okura, Masatoshi; Takamatsu, Daisuke

    2016-09-14

    European foulbrood (EFB) caused by Melissococcus plutonius is an important bacterial disease of honeybee larvae. M. plutonius strains can be grouped into three genetically distinct groups (CC3, CC12 and CC13). Because EFB could not be reproduced in artificially reared honeybee larvae by fastidious strains of CC3 and CC13 previously, we investigated a method to improve experimental conditions using a CC3 strain and found that infection with a potassium-rich diet enhanced proliferation of the fastidious strain in larvae at the early stage of infection, leading to the appearance of clear clinical symptoms. Further comparison of M. plutonius virulence under the conditions revealed that the representative strain of CC12 was extremely virulent and killed all tested bees before pupation, whereas the CC3 strain was less virulent than the CC12 strain, and a part of the infected larvae pupated. In contrast, the tested CC13 strain was avirulent, and as with the non-infected control group, most of the infected brood became adult bees, suggesting differences in the insect-level virulence among M. plutonius strains with different genetic backgrounds. These strains and the improved experimental infection method to evaluate their virulence will be useful tools for further elucidation of the pathogenic mechanisms of EFB.

  8. Interspecific Hybridization in Pilot Whales and Asymmetric Genetic Introgression in Northern Globicephala melas under the Scenario of Global Warming.

    Science.gov (United States)

    Miralles, Laura; Oremus, Marc; Silva, Mónica A; Planes, Serge; Garcia-Vazquez, Eva

    2016-01-01

    Pilot whales are two cetacean species (Globicephala melas and G. macrorhynchus) whose distributions are correlated with water temperature and partially overlap in some areas like the North Atlantic Ocean. In the context of global warming, distribution range shifts are expected to occur in species affected by temperature. Consequently, a northward displacement of the tropical pilot whale G. macrorynchus is expected, eventually leading to increased secondary contact areas and opportunities for interspecific hybridization. Here, we describe genetic evidences of recurrent hybridization between pilot whales in northeast Atlantic Ocean. Based on mitochondrial DNA sequences and microsatellite loci, asymmetric introgression of G. macrorhynchus genes into G. melas was observed. For the latter species, a significant correlation was found between historical population growth rate estimates and paleotemperature oscillations. Introgressive hybridization, current temperature increases and lower genetic variation in G. melas suggest that this species could be at risk in its northern range. Under increasing environmental and human-mediated stressors in the North Atlantic Ocean, it seems recommendable to develop a conservation program for G. melas.

  9. Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?

    Science.gov (United States)

    Austin, Jehannine; Caleshu, Colleen

    2016-01-01

    Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy. PMID:27804046

  10. Response to A Different Vantage Point Commentary: Psychotherapeutic Genetic Counseling, Is it?

    Science.gov (United States)

    Biesecker, Barbara; Austin, Jehannine; Caleshu, Colleen

    2017-04-01

    Whether genetic counseling is a form of psychotherapy is open for debate. Early practicioners in genetic counseling described it as such, and this claim has been replicated in recent publications. This commentary is a rebuttal to the claim that genetic counseling is distinct from psychotherapty. We argue that it is a a form of psychoterapy that aims to help clients manage a health threat that affects their psychological wellbeing, paralleling the goals of psychotherapy.

  11. Hormonal and genetic influences underlying arousal as it drives sex and aggression in animal and human brains.

    Science.gov (United States)

    Mong, Jessica A; Pfaff, Donald W

    2003-01-01

    Estrogen treatment induces transcription and increases excitability and reproductive behavior. Estrogens provide the structural basis for increased synaptic activity and greater behavior-facilitating output. Administration of progesterone amplifies the effect of estrogens on mating behavior. The role of GnRH is to synchronize reproductive behavior with the ovulatory surge of LH. A causal connection can be charted from one individual gene to human social behavior, but only via six causal links. Glia, meninges and neurons may participate, under the influence of sex hormones, in the direction of sex behavior. Neural and genetic mechanisms for motivation may lead to biological understanding of functions that apply to the most primitive aspects of human mental functioning. With respect to aggression, besides testosterone and its metabolites, serotonergic projections to the forebrain play an important role.

  12. Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

    Science.gov (United States)

    Arloth, Janine; Bogdan, Ryan; Weber, Peter; Frishman, Goar; Menke, Andreas; Wagner, Klaus V.; Balsevich, Georgia; Schmidt, Mathias V.; Karbalai, Nazanin; Czamara, Darina; Altmann, Andre; Trümbach, Dietrich; Wurst, Wolfgang; Mehta, Divya; Uhr, Manfred; Klengel, Torsten; Erhardt, Angelika; Carey, Caitlin E.; Conley, Emily Drabant; Ripke, Stephan; Wray, Naomi R.; Lewis, Cathryn M.; Hamilton, Steven P.; Weissman, Myrna M.; Breen, Gerome; Byrne, Enda M.; Blackwood, Douglas H.R.; Boomsma, Dorret I.; Cichon, Sven; Heath, Andrew C.; Holsboer, Florian; Lucae, Susanne; Madden, Pamela A.F.; Martin, Nicholas G.; McGuffin, Peter; Muglia, Pierandrea; Noethen, Markus M.; Penninx, Brenda P.; Pergadia, Michele L.; Potash, James B.; Rietschel, Marcella; Lin, Danyu; Müller-Myhsok, Bertram; Shi, Jianxin; Steinberg, Stacy; Grabe, Hans J.; Lichtenstein, Paul; Magnusson, Patrik; Perlis, Roy H.; Preisig, Martin; Smoller, Jordan W.; Stefansson, Kari; Uher, Rudolf; Kutalik, Zoltan; Tansey, Katherine E.; Teumer, Alexander; Viktorin, Alexander; Barnes, Michael R.; Bettecken, Thomas; Binder, Elisabeth B.; Breuer, René; Castro, Victor M.; Churchill, Susanne E.; Coryell, William H.; Craddock, Nick; Craig, Ian W.; Czamara, Darina; De Geus, Eco J.; Degenhardt, Franziska; Farmer, Anne E.; Fava, Maurizio; Frank, Josef; Gainer, Vivian S.; Gallagher, Patience J.; Gordon, Scott D.; Goryachev, Sergey; Gross, Magdalena; Guipponi, Michel; Henders, Anjali K.; Herms, Stefan; Hickie, Ian B.; Hoefels, Susanne; Hoogendijk, Witte; Hottenga, Jouke Jan; Iosifescu, Dan V.; Ising, Marcus; Jones, Ian; Jones, Lisa; Jung-Ying, Tzeng; Knowles, James A.; Kohane, Isaac S.; Kohli, Martin A.; Korszun, Ania; Landen, Mikael; Lawson, William B.; Lewis, Glyn; MacIntyre, Donald; Maier, Wolfgang; Mattheisen, Manuel; McGrath, Patrick J.; McIntosh, Andrew; McLean, Alan; Middeldorp, Christel M.; Middleton, Lefkos; Montgomery, Grant M.; Murphy, Shawn N.; Nauck, Matthias; Nolen, Willem A.; Nyholt, Dale R.; O’Donovan, Michael; Oskarsson, Högni; Pedersen, Nancy; Scheftner, William A.; Schulz, Andrea; Schulze, Thomas G.; Shyn, Stanley I.; Sigurdsson, Engilbert; Slager, Susan L.; Smit, Johannes H.; Stefansson, Hreinn; Steffens, Michael; Thorgeirsson, Thorgeir; Tozzi, Federica; Treutlein, Jens; Uhr, Manfred; van den Oord, Edwin J.C.G.; Van Grootheest, Gerard; Völzke, Henry; Weilburg, Jeffrey B.; Willemsen, Gonneke; Zitman, Frans G.; Neale, Benjamin; Daly, Mark; Levinson, Douglas F.; Sullivan, Patrick F.; Ruepp, Andreas; Müller-Myhsok, Bertram; Hariri, Ahmad R.; Binder, Elisabeth B.

    2015-01-01

    Summary Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation may mediate the risk for depression and other psychiatric disorders by altering a network of functionally related stress-sensitive genes in blood and brain. Video Abstract PMID:26050039

  13. Response to selection and genetic parameters of body and carcass weights in Japanese quail selected for 4-week body weight

    DEFF Research Database (Denmark)

    Khaldari, M; Pakdel, A; Yegane, H Mehrabani

    2010-01-01

    dams were used as parents for the next generation. Data were collected over 2 consecutive hatches for 4 generations, and 1,554 records from 151 sires and 285 dams were used to estimate the genetic parameters. The genetic improvement of 4-wk BW was 9.6, 8.8, and 8.2 g in generations 2, 3, and 4...... to improve carcass traits. Also, intense selection resulting in high rates of inbreeding might result in decreased response to selection due to inbreeding depression....

  14. Response of wheat plants to sodium and calcium ion interaction under saline environment

    International Nuclear Information System (INIS)

    Zaman, B.; Niazi, B.H.; Athar, M.; Ahmad, M.

    2005-01-01

    Wheat being a glycophyte crop, responds differently to saline-sodic soil environmental conditions. The application of calcium is multidimensional with respect to sodium ion and plant part response. This study was conducted to record the response of shoot and root to sodium and calcium interaction under saline environment. Wheat seed of variety Punjab 85 were raised in quartz sand. Later on the seedlings were transplanted to pots containing Hoagland's nutrient solution along with NaCl at 0 mM. and 50 mM. Calcium was applied as CaSO 4 2H O at 3m M. and 6 mM. Under saline conditions shoot showed positive response to sodium ion in the presence of higher calcium. Relative water contents were higher in the root system at 6 mM of CaSO 4 .2H 2 O under saline condition. Growth responses to potassium and Magnesium in the presence of sodium induced salinity with calcium ion interaction remained variable

  15. Stochastic–multiobjective market equilibrium analysis of a demand response program in energy market under uncertainty

    International Nuclear Information System (INIS)

    Hu, Ming-Che; Lu, Su-Ying; Chen, Yen-Haw

    2016-01-01

    Highlights: • Analyze the impact of a demand response program under uncertainty. • Stochastic Nash–Cournot competition model is formulated. • Case study of the Taiwanese electric power market is conducted. • Demand response decreases power price, generation, and emissions. • Demand uncertainty increases energy price and supply risk in the results. - Abstract: In the electricity market, demand response programs are designed to shift peak demand and enhance system reliability. A demand response program can reduce peak energy demand, power transmission congestion, or high energy-price conditions by changing consumption patterns. The purpose of this research is to analyze the impact of a demand response program in the energy market, under demand uncertainty. A stochastic–multiobjective Nash–Cournot competition model is formulated to simulate demand response in an uncertain energy market. Then, Karush–Kuhn–Tucker optimality conditions and a linear complementarity problem are derived for the stochastic Nash–Cournot model. Accordingly, the linear complementarity problem is solved and its stochastic market equilibrium solution is determined by using a general algebraic modeling system. Additionally, the case of the Taiwanese electric power market is taken up here, and the results show that a demand response program is capable of reducing peak energy consumption, energy price, and carbon dioxide emissions. The results show that demand response program decreases electricity price by 2–10%, total electricity generation by 0.5–2%, and carbon dioxide emissions by 0.5–2.5% in the Taiwanese power market. In the simulation, demand uncertainty leads to an 2–7% increase in energy price and supply risk in the market. Additionally, tradeoffs between cost and carbon dioxide emissions are presented.

  16. Analysis of the genetic basis of plant height-related traits in response to ethylene by QTL mapping in maize (Zea mays L.)

    Science.gov (United States)

    Li, Zhi; Fang, Hui; Zhang, Mingcai; Duan, Liusheng

    2018-01-01

    Ethylene (ET) is critical importance in the growth, development, and stress responses of plants. Plant hormonal stress responses have been extensively studied, however, the role of ET in plant growth, especially plant height (PH) remains unclear. Understanding the genetic control for PH in response to ET will provide insights into the regulation of maize development. To clarify the genetic basis of PH-related traits of maize in response to ET, we mapped QTLs for PH, ear height (EH), and internode length above the uppermost ear (ILAU) in two recombinant inbred line (RIL) populations of Zea mays after ET treatment and in an untreated control (CK) group. Sixty QTLs for the three traits were identified. Twenty-two QTLs were simultaneously detected under both ET treatment and untreated control, and five QTLs were detected at two geographic locations under ET treatment only. Individual QTL can be explained 3.87–17.71% of the phenotypic variance. One QTL (q2PH9-1, q1PH9, q1EH9/q1ILAU9-1, q2ILAU9, and q2EH9) for the measured traits (PH, EH, ILAU) was consistent across both populations. Two QTLs (q2PH2-5, q2ILAU2-2, q1PH2-2, and q1ILAU2-2; q1PH8-1, q1EH8-1, q2PH8-1) were identified for up to two traits in both locations and populations under both ET treatment and untreated control. These consistent and stable regions are important QTLs of potential hot spots for PH, ear height (EH), and internode length above the uppermost ear (ILAU) response to ET in maize; therefore, QTL fine-mapping and putative candidate genes validation should enable the cloning of PH, EH, and ILAU related genes to ET response. These results will be valuable for further fine-mapping and quantitative trait nucleotides (QTNs) determination, and elucidate the underlying molecular mechanisms of ET responses in maize. PMID:29466465

  17. WrpA Is an Atypical Flavodoxin Family Protein under Regulatory Control of the Brucella abortus General Stress Response System.

    Science.gov (United States)

    Herrou, Julien; Czyż, Daniel M; Willett, Jonathan W; Kim, Hye-Sook; Chhor, Gekleng; Babnigg, Gyorgy; Kim, Youngchang; Crosson, Sean

    2016-04-01

    The general stress response (GSR) system of the intracellular pathogen Brucella abortus controls the transcription of approximately 100 genes in response to a range of stress cues. The core genetic regulatory components of the GSR are required for B. abortus survival under nonoptimal growth conditions in vitro and for maintenance of chronic infection in an in vivo mouse model. The functions of the majority of the genes in the GSR transcriptional regulon remain undefined. bab1_1070 is among the most highly regulated genes in this regulon: its transcription is activated 20- to 30-fold by the GSR system under oxidative conditions in vitro. We have solved crystal structures of Bab1_1070 and demonstrate that it forms a homotetrameric complex that resembles those of WrbA-type NADH:quinone oxidoreductases, which are members of the flavodoxin protein family. However, B. abortus WrbA-related protein (WrpA) does not bind flavin cofactors with a high affinity and does not function as an NADH:quinone oxidoreductase in vitro. Soaking crystals with flavin mononucleotide (FMN) revealed a likely low-affinity binding site adjacent to the canonical WrbA flavin binding site. Deletion of wrpA (ΔwrpA) does not compromise cell survival under acute oxidative stress in vitro or attenuate infection in cell-based or mouse models. However, a ΔwrpA strain does elicit increased splenomegaly in a mouse model, suggesting that WrpA modulates B. abortus interaction with its mammalian host. Despite high structural homology with canonical WrbA proteins, we propose that B. abortus WrpA represents a functionally distinct member of the diverse flavodoxin family. Brucella abortus is an etiological agent of brucellosis, which is among the most common zoonotic diseases worldwide. The general stress response (GSR) regulatory system of B. abortus controls the transcription of approximately 100 genes and is required for maintenance of chronic infection in a murine model; the majority of GSR-regulated genes

  18. Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN)

    Science.gov (United States)

    The triglyceride (TG) response to a high-fat meal (postprandial lipemia, PPL) affects cardiovascular disease risk and is influenced by genes and environment. Genes involved in lipid metabolism have dominated genetic studies of PPL TG response. We sought to elucidate common genetic variants through a...

  19. GENetic and clinical Predictors Of treatment response in Depression: the GenPod randomised trial protocol

    Directory of Open Access Journals (Sweden)

    O'Donovan Michael

    2008-05-01

    Full Text Available Abstract Background The most effective pharmacological treatments for depression inhibit the transporters that reuptake serotonin (Selective Serotonin Reuptake Inhibitors – SSRIs and noradrenaline (Noradrenaline Reuptake Inhibitors – NaRIs into the presynaptic terminal. There is evidence to suggest that noradrenaline and serotonin enhancing drugs work through separate mechanisms to produce their clinical antidepressant action. Although most of the current evidence suggests there is little difference in overall efficacy between SSRIs and NaRIs, there are patients who respond to one class of compounds and not another. This suggests that treatment response could be predicted by genetic and/or clinical characteristics. Firstly, this study aims to investigate the influence of a polymorphism (SLC6A4 in the 5HT transporter in altering response to SSRI medication. Secondly, the study will investigate whether those with more severe depression have a better response to NaRIs than SSRIs. Methods/design The GenPod trial is a multi-centre randomised controlled trial. GPs referred patients aged between 18–74 years presenting with a new episode of depression, who did not have any medical contraindications to antidepressant medication and who had no history of psychosis or alcohol/substance abuse. Patients were interviewed to ascertain their suitability for the study. Eligible participants (with a primary diagnosis of depression according to ICD10 criteria and a Beck Depression Inventory (BDI score > 14 were randomised to receive one of two antidepressant treatments, either the SSRI Citalopram or the NaRI Reboxetine, stratified according to severity. The final number randomised to the trial was 601. Follow-up assessments took place at 2, 6 and 12 weeks following randomisation. Primary outcome was measured at 6 weeks by the BDI. Outcomes will be analysed on an intention-to-treat basis and will use multiple regression models to compare treatments

  20. Natural variation in a single amino acid substitution underlies physiological responses to topoisomerase II poisons.

    Science.gov (United States)

    Zdraljevic, Stefan; Strand, Christine; Seidel, Hannah S; Cook, Daniel E; Doench, John G; Andersen, Erik C

    2017-07-01

    Many chemotherapeutic drugs are differentially effective from one patient to the next. Understanding the causes of this variability is a critical step towards the development of personalized treatments and improvements to existing medications. Here, we investigate sensitivity to a group of anti-neoplastic drugs that target topoisomerase II using the model organism Caenorhabditis elegans. We show that wild strains of C. elegans vary in their sensitivity to these drugs, and we use an unbiased genetic approach to demonstrate that this natural variation is explained by a methionine-to-glutamine substitution in topoisomerase II (TOP-2). The presence of a non-polar methionine at this residue increases hydrophobic interactions between TOP-2 and its poison etoposide, as compared to a polar glutamine. We hypothesize that this stabilizing interaction results in increased genomic instability in strains that contain a methionine residue. The residue affected by this substitution is conserved from yeast to humans and is one of the few differences between the two human topoisomerase II isoforms (methionine in hTOPIIα and glutamine in hTOPIIβ). We go on to show that this amino acid difference between the two human topoisomerase isoforms influences cytotoxicity of topoisomerase II poisons in human cell lines. These results explain why hTOPIIα and hTOPIIβ are differentially affected by various poisons and demonstrate the utility of C. elegans in understanding the genetics of drug responses.

  1. The ultrastructure and genetic traits of plants under the condition of hypobaric and hypoxia

    Science.gov (United States)

    Guo, Shuangsheng; Tang, Yongkang; Wang, Shulei; Cheng, Quanyong; Zhao, Qi

    This study analyzed the cellular, sub-cellular and molecular levels, particle composition and volume changes of Indian lettuce under the conditions of hypobaric and hypoxia. Firstly, in the hypobaric and hypoxia conditions, two kinds of sample showed a decrease in the num-ber of cells, the increase in volume and the deflation in nuclear size. Secondl