16 resultados para COPY-NUMBER VARIATIONS

em CentAUR: Central Archive University of Reading - UK


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A deeper understanding of random markers is important if they are to be employed for a range of objectives. The sequence specific amplified polymorphism (S-SAP) technique is a powerful genetic analysis tool which exploits the high copy number of retrotransposon long terminal repeats (LTRs) in the plant genome. The distribution and inheritance of S-SAP bands in the barley genome was studied using the Steptoe × Morex (S × M) double haploid (DH) population. Six S-SAP primer combinations generated 98 polymorphic bands, and map positions were assigned to all but one band. Eight putative co-dominant loci were detected, representing 16 of the mapped markers. Thus at least 81 of the mapped S-SAP loci were dominant. The markers were distributed along all of the seven chromosomes and a tendency to cluster was observed. The distribution of S-SAP markers over the barley genome concurred with the knowledge of the high copy number of retrotransposons in plants. This experiment has demonstrated the potential for the S-SAP technique to be applied in a range of analyses such as genetic fingerprinting, marker assisted breeding, biodiversity assessment and phylogenetic analyses.

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The bifidobacterial β-galactosidase (BbgIV) was produced in E. coli DH5α at 37 and 30 °C in a 5 L bioreactor under varied conditions of dissolved oxygen (dO2) and pH. The yield of soluble BbgIV was significantly (P < 0.05) increased once the dO2 dropped to 0–2% and remained at such low values during the exponential phase. Limited dO2 significantly (P < 0.05) increased the plasmid copy number and decreased the cells growth rate. Consequently, the BbgIV yield increased to its maximum (71–75 mg per g dry cell weight), which represented 20–25% of the total soluble proteins in the cells. In addition, the specific activity and catalytic efficiency of BbgIV were significantly (P < 0.05) enhanced under limited dO2 conditions. This was concomitant with a change in the enzyme secondary structure, suggesting a link between the enzyme structure and function. The knowledge generated from this work is very important for producing BbgIV as a biocatalyst for the development of a cost-effective process for the synthesis of prebiotic galactooligosaccharides from lactose.

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Zinc (Zn) and cadmium (Cd) hyperaccumulation may have evolved twice in the Brassicaceae, in Arabidopsis halleri and in the Noccaea genus. Tandem gene duplication and deregulated expression of the Zn transporter, HMA4, has previously been linked to Zn/Cd hyperaccumulation in A. halleri. Here, we tested the hypothesis that tandem duplication and deregulation of HMA4 expression also occurs in Noccaea. A Noccaea caerulescens genomic library was generated, containing 36,864 fosmid pCC1FOS (TM) clones with insert sizes similar to 20-40 kbp, and screened with a PCR-generated HMA4 genomic probe. Gene copy number within the genome was estimated through DNA fingerprinting and pooled fosmid pyrosequencing. Gene copy numbers within individual clones was determined by PCR analyses with novel locus specific primers. Entire fosmids were then sequenced individually and reads equivalent to 20-fold coverage were assembled to generate complete whole contigs. Four tandem HMA4 repeats were identified in a contiguous sequence of 101,480 bp based on sequence overlap identities. These were flanked by regions syntenous with up and downstream regions of AtHMA4 in Arabidopsis thaliana. Promoter-reporter beta-glucuronidase (GUS) fusion analysis of a NcHMA4 in A. thaliana revealed deregulated expression in roots and shoots, analogous to AhHMA4 promoters, but distinct from AtHMA4 expression which localised to the root vascular tissue. This remarkable consistency in tandem duplication and deregulated expression of metal transport genes between N. caerulescens and A. halleri, which last shared a common ancestor > 40 mya, provides intriguing evidence that parallel evolutionary pathways may underlie Zn/Cd hyperaccumulation in Brassicaceae.

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The C-type lectin-like receptor CLEC-2 mediates platelet activation through a hem-immunoreceptor tyrosine-based activation motif (hemITAM). CLEC-2 initiates a Src- and Syk-dependent signaling cascade that is closely related to that of the 2 platelet ITAM receptors: glycoprotein (GP)VI and FcγRIIa. Activation of either of the ITAM receptors induces shedding of GPVI and proteolysis of the ITAM domain in FcγRIIa. In the present study, we generated monoclonal antibodies against human CLEC-2 and used these to measure CLEC-2 expression on resting and stimulated platelets and on other hematopoietic cells. We show that CLEC-2 is restricted to platelets with an average copy number of ∼2000 per cell and that activation of CLEC-2 induces proteolytic cleavage of GPVI and FcγRIIa but not of itself. We further show that CLEC-2 and GPVI are expressed on CD41+ microparticles in megakaryocyte cultures and in platelet-rich plasma, which are predominantly derived from megakaryocytes in healthy donors, whereas microparticles derived from activated platelets only express CLEC-2. Patients with rheumatoid arthritis, an inflammatory disease associated with increased microparticle production, had raised plasma levels of microparticles that expressed CLEC-2 but not GPVI. Thus, CLEC-2, unlike platelet ITAM receptors, is not regulated by proteolysis and can be used to monitor platelet-derived microparticles.

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We analyse the widely-used international/ Zürich sunspot number record, R, with a view to quantifying a suspected calibration discontinuity around 1945 (which has been termed the “Waldmeier discontinuity” [Svalgaard, 2011]). We compare R against the composite sunspot group data from the Royal Greenwich Observatory (RGO) network and the Solar Optical Observing Network (SOON), using both the number of sunspot groups, N{sub}G{\sub}, and the total area of the sunspots, A{sub}G{\sub}. In addition, we compare R with the recently developed interdiurnal variability geomagnetic indices IDV and IDV(1d). In all four cases, linearity of the relationship with R is not assumed and care is taken to ensure that the relationship of each with R is the same before and after the putative calibration change. It is shown the probability that a correction is not needed is of order 10{sup}−8{\sup} and that R is indeed too low before 1945. The optimum correction to R for values before 1945 is found to be 11.6%, 11.7%, 10.3% and 7.9% using A{sub}G{\sub}, N{sub)G{\sub}, IDV, and IDV(1d), respectively. The optimum value obtained by combining the sunspot group data is 11.6% with an uncertainty range 8.1-14.8% at the 2σ level. The geomagnetic indices provide an independent yet less stringent test but do give values that fall within the 2σ uncertainty band with optimum values are slightly lower than from the sunspot group data. The probability of the correction needed being as large as 20%, as advocated by Svalgaard [2011], is shown to be 1.6 × 10{sup}−5{\sup}.

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We investigate the relationship between interdiurnal variation geomagnetic activity indices, IDV and IDV(1d), corrected sunspot number, R{sub}C{\sub}, and the group sunspot number R{sub}G{\sub}. R{sub}C{\sub} uses corrections for both the “Waldmeier discontinuity”, as derived in Paper 1 [Lockwood et al., 2014c], and the “Wolf discontinuity” revealed by Leussu et al. [2013]. We show that the simple correlation of the geomagnetic indices with R{sub}C{\sub}{sup}n{\sup} or R{sub}G{\sub}{sup}n{\sup} masks a considerable solar cycle variation. Using IDV(1d) or IDV to predict or evaluate the sunspot numbers, the errors are almost halved by allowing for the fact that the relationship varies over the solar cycle. The results indicate that differences between R{sub}C{\sub} and R{sub}G{\sub} have a variety of causes and are highly unlikely to be attributable to errors in either R{sub}G{\sub} alone, as has recently been assumed. Because it is not known if R{sub}C{\sub} or R{sub}G{\sub} is a better predictor of open flux emergence before 1874, a simple sunspot number composite is suggested which, like R{sub}G{\sub}, enables modelling of the open solar flux for 1610 onwards in Paper 3, but maintains the characteristics of R{sub}C{\sub}.

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From the variation of near-Earth interplanetary conditions, reconstructed for the mid-19th century to the present day using historic geomagnetic activity observations, Lockwood and Owens [2014] have suggested that Earth remains within a broadened streamer belt during solar cycles when the Open Solar Flux (OSF) is low. From this they propose that the Earth was immersed in almost constant slow solar wind during the Maunder minimum (c. 1650-1710). In this paper, we extend continuity modelling of the OSF to predict the streamer belt width using both group sunspot numbers and corrected international sunspot numbers to quantify the emergence rate of new OSF. The results support the idea that the solar wind at Earth was persistently slow during the Maunder minimum because the streamer belt was broad.

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Metal contaminants in garden and allotment soils could possibly affect human health through a variety of pathways. This study focused on the potential pathway of consumption of vegetables grown on contaminated soil. Five cultivars each of six common vegetables were grown in a control and in a soil spiked with Cd, Cu, Pb and Zn. Highly significant differences in metal content were evident between cultivars of a number of vegetables for several of the contaminants. Carrot and pea cultivars exhibited significant differences in accumulated concentrations of Cd and Cu with carrot cultivars also exhibiting significant differences in Zn. Distinctive differences were also identified when comparing one vegetable to another, legumes (Leguminosae) tending to be low accumulators, root vegetables (Umbelliferae and Liliaceae) tending to be moderate accumulators and leafy vegetables (Compositae and Chenopodiaceae) being high accumulators. (c) 2006 Elsevier Ltd. All rights reserved.

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This paper investigates the impact of policies to promote the adoption of LEED-certified buildings across CBSA in the United States. Drawing upon a unique database that combines data from a large number of sources and using a number of regression procedures, the determinants of the proportion LEED-certified space for more than 170 CBSA in the US is modeled. LEED-certified space still accounts for a relatively small proportion of commercial stock in all markets. The average proportion is less than 1%. There is no conclusive evidence of a positive impact of policy intervention on the levels of LEED-certified space. However, after accounting for bias introduced by non-random assignment of policies, we find preliminary evidence of a positive impact of city-level green building incentives. There is a significant positive association between market size and indicators of economic vitality on proportions of LEED-certified space.

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Galactic cosmic ray flux at Earth is modulated by the heliospheric magnetic field. Heliospheric modulation potential, Φ, during grand solar minima is investigated using an open solar flux (OSF) model with OSF source based on sunspot number, R, and OSF loss on heliospheric current sheet inclination. Changing dominance between source and loss means Φ varies in- (anti-) phase with R during strong (weak) cycles, in agreement with Φ estimates from ice core records of 10Be concentration, which are in-phase during most of the last 300 years, but anti-phase during the Maunder Minimum. Model results suggest “flat” OSF cycles, such as solar cycle 20 result from OSF source and loss terms temporarily balancing throughout the cycle. Thus even if solar activity continues to decline steadily, the long-term drop in OSF through SC21 to SC23 may plateau during SC24, though reemerge in SC25 with the inverted phase relation.

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Two new nickel(11) complexes, [NiLL'(H2O)(2)Cl] (1) and [{NiLL'(H2O)](2)(mu-H)]NO3·H2O(2), have been synthesized using a tridentate Schiff base ligand, HL, 2-[(2-dimethylamino-ethylimino)-methyl]-phenol, along with Cl- or NO3(-) as an anionic co-ligand or counter anion (where L'H = salicylaldehyde). Both complexes have been characterized by X-ray crystallography. The structural analyses reveal that complex 1 is mononuclear whereas 2 is a hydrogen-bridged dinuclear complex. The Ni(II) ions possess a distorted octahedral geometry in both structures. Both complexes show negative solvatochromic behaviour with increasing donor number (DN) of the solvent. In more coordinating solvents, like DMSO or methanol, the colour of the solutions is green, whereas in less coordinating solvents, like dichloromethane (DCM) or acetonitrile, it is red.

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Historic geomagnetic activity observations have been used to reveal centennial variations in the open solar flux and the near-Earth heliospheric conditions (the interplanetary magnetic field and the solar wind speed). The various methods are in very good agreement for the past 135 years when there were sufficient reliable magnetic observatories in operation to eliminate problems due to site-specific errors and calibration drifts. This review underlines the physical principles that allow these reconstructions to be made, as well as the details of the various algorithms employed and the results obtained. Discussion is included of: the importance of the averaging timescale; the key differences between “range” and “interdiurnal variability” geomagnetic data; the need to distinguish source field sector structure from heliospherically-imposed field structure; the importance of ensuring that regressions used are statistically robust; and uncertainty analysis. The reconstructions are exceedingly useful as they provide calibration between the in-situ spacecraft measurements from the past five decades and the millennial records of heliospheric behaviour deduced from measured abundances of cosmogenic radionuclides found in terrestrial reservoirs. Continuity of open solar flux, using sunspot number to quantify the emergence rate, is the basis of a number of models that have been very successful in reproducing the variation derived from geomagnetic activity. These models allow us to extend the reconstructions back to before the development of the magnetometer and to cover the Maunder minimum. Allied to the radionuclide data, the models are revealing much about how the Sun and heliosphere behaved outside of grand solar maxima and are providing a means of predicting how solar activity is likely to evolve now that the recent grand maximum (that had prevailed throughout the space age) has come to an end.

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AIMS/HYPOTHESIS: The PPARGC1A gene coactivates multiple nuclear transcription factors involved in cellular energy metabolism and vascular stasis. In the present study, we genotyped 35 tagging polymorphisms to capture all common PPARGC1A nucleotide sequence variations and tested for association with metabolic and cardiovascular traits in 2,101 Danish and Estonian boys and girls from the European Youth Heart Study, a multicentre school-based cross-sectional cohort study. METHODS: Fasting plasma glucose concentrations, anthropometric variables and blood pressure were measured. Habitual physical activity and aerobic fitness were objectively assessed using uniaxial accelerometry and a maximal aerobic exercise stress test on a bicycle ergometer, respectively. RESULTS: In adjusted models, nominally significant associations were observed for BMI (rs10018239, p = 0.039), waist circumference (rs7656250, p = 0.012; rs8192678 [Gly482Ser], p = 0.015; rs3755863, p = 0.02; rs10018239, beta = -0.01 cm per minor allele copy, p = 0.043), systolic blood pressure (rs2970869, p = 0.018) and fasting glucose concentrations (rs11724368, p = 0.045). Stronger associations were observed for aerobic fitness (rs7656250, p = 0.005; rs13117172, p = 0.008) and fasting glucose concentrations (rs7657071, p = 0.002). None remained significant after correcting for the number of statistical comparisons. We proceeded by testing for gene x physical activity interactions for the polymorphisms that showed nominal evidence of association in the main effect models. None of these tests was statistically significant. CONCLUSIONS/INTERPRETATION: Variants at PPARGC1A may influence several metabolic traits in this European paediatric cohort. However, variation at PPARGC1A is unlikely to have a major impact on cardiovascular or metabolic health in these children.

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Nowadays the electricity consumption in the residential sector attracts policy and research efforts, in order to propose saving strategies and to attain a better balance between production and consumption, by integrating renewable energy production and proposing suitable demand side management methods. To achieve these objectives it is essential to have real information about household electricity demand profiles in dwellings, highly correlated, among other aspects, with the active occupancy of the homes and to the personal activities carried out in homes by their occupants. Due to the limited information related to these aspects, in this paper, behavioral factors of the Spanish household residents, related to the electricity consumption, have been determined and analyzed, based on data from the Spanish Time Use Surveys, differentiating among the Autonomous Communities and the size of municipalities, or the type of days, weekdays or weekends. Activities involving a larger number of houses are those related to Personal Care, Food Preparation and Washing Dishes. The activity of greater realization at homes is Watching TV, which together with Using PC, results in a high energy demand in an aggregate level. Results obtained enable identify prospective targets for load control and for efficiency energy reduction recommendations to residential consumers.

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Recent studies of the variation of geomagnetic activity over the past 140 years have quantified the "coronal source" or "open" magnetic flux F-s that leaves the solar atmosphere and enters the heliosphere and have shown that it has risen, on average, by 34% since 1963 and by 140% since 1900. This variation is reflected in studies of the heliospheric field using isotopes deposited in ice sheets and meteorites by the action of galactic comic rays. The variation has also been reproduced using a model that demonstrates how the open flux accumulates and decays, depending on the rate of flux emergence in active regions and on the length of the solar cycle. The cosmic ray flux at energies > 3 GeV is found to have decayed by about 15% during the 20(th) century (and by about 4% at > 13 GeV). We show that the changes in the open flux do reflect changes in the photospheric and sub-surface field which offers an explanation of why open flux appears to be a good proxy for solar irradiance extrapolation. Correlations between F-s, solar cycle length, L, and 11-year smoothed sunspot number, R-11, explain why the various irradiance reconstructions for the last 150 years are similar in form. Possible implications of the inferred changes in cosmic ray flux and irradiance for global temperatures on Earth are discussed.