Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive recombination-repair mechanisms. We previously described small microduplications at Xq28 containing MECP2 in four male patients with a severe neurological phenotype. Here, we report on the fine-mapping and breakpoint analysis of 16 unique microduplications. The size of the overlapping copy number changes varies between 0.3 and 2.3 Mb, and FISH analysis on three patients demonstrated a tandem orientation. Although eight of the 32 breakpoint regions coincide with low-copy repeats, none of the duplications are the result of NAHR. Bioinformatics analysis of the breakpoint regions demonstrated a 2.5-fold higher frequency of Alu interspersed repeats as compared with control regions, as well as a very high GC content (53%). Unexpectedly, we obtained the junction in only one patient by long-range PCR, which revealed nonhomologous end joining as the mechanism. Breakpoint analysis in two other patients by inverse PCR and subsequent array comparative genomic hybridization analysis demonstrated the presence of a second duplicated region more telomeric at Xq28, of which one copy was inserted in between the duplicated MECP2 regions. These data suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid. Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements.

Probing the (6,7)Li nucleon densities through a new break-up process approach

In this work we present a double folding optical model analysis of new near-barrier quasi-elastic experimental data for the (6,7)Li + (120)Sn systems. From the analysis, it was possible to confirm the ground-state nucleon densities assumed for the weakly bound (6,7)Li isotopes. The apparent discrepancies between the experimental densities and those based on Dirac-Hartree-Fock Bogoliubov (DHB) calculations were removed. A new approach that simulates the projectile break-up and a positive polarization from couplings of (6,7)Li bound states with the continuum was considered in the reaction mechanism. (C) 2010 Elsevier B.V. All rights reserved.

Aspects of Liminality in Eilis Ni Dhuibhne's The Dancers Dancing

In this essay I refer Eilis Ni Dhuibhne’s narrative construction of the main characters and the theme of the novel The Dancers Dancing, in the context of the anthropologist Victor Turner’s concept of liminality. Thus the summer in the Gaeltacht that five teenage girls experience, can be understood as a depiction of the liminal phase in a rite of passage. Ni Dhuibhne’s differently constructed characters enlighten different aspects of liminality and through the céilí dance their experiences are exposed. Furthermore this essay suggests that Julia Kristeva’s notion of the chora, which can be associated to dance, is also relevant when describing the unbounded and unlimited process that radically can reform social structures. I conclude that the liminal space offers an area of many possibilities. It functions as a free zone where the main characters can freely explore their personal issues that trouble them, or the difficulties of their own society.

Dancing with Mr. Penrose and other stories

Stories: Fallen Angel The Inheritance Schlog's Dance The New World Dancing With Mr. Penrose

Evaluating the existence of structural change in the brazilian term structure of interest: evidence based on cointegration models with structural break

This paper investigates whether there is evidence of structural change in the Brazilian term structure of interest rates. Multivariate cointegration techniques are used to verify this evidence. Two econometrics models are estimated. The rst one is a Vector Autoregressive Model with Error Correction Mechanism (VECM) with smooth transition in the deterministic coe¢ cients (Ripatti and Saikkonen [25]). The second one is a VECM with abrupt structural change formulated by Hansen [13]. Two datasets were analysed. The rst one contains a nominal interest rate with maturity up to three years. The second data set focuses on maturity up to one year. The rst data set focuses on a sample period from 1995 to 2010 and the second from 1998 to 2010. The frequency is monthly. The estimated models suggest the existence of structural change in the Brazilian term structure. It was possible to document the existence of multiple regimes using both techniques for both databases. The risk premium for di¤erent spreads varied considerably during the earliest period of both samples and seemed to converge to stable and lower values at the end of the sample period. Long-term risk premiums seemed to converge to inter-national standards, although the Brazilian term structure is still subject to liquidity problems for longer maturities.

Numerical Experimental Comparison of Dam Break Flows with non-Newtonian Fluids

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Consolidation and break-up of the South American platform in southeastern Brazil: Tectonothermal and denudation histories

The different tectonic stages that occurred at the end of the Proterozoic and during the Phanerozoic have an important bearing on the tectonothermal history of the South American Platform and its consolidation. Geochronological data (U/Pb monazite, Ar-40/Ar-39 whole rock) and apatite fission-track analysis, from Precambrian rocks of the southeastern Brazilian coastline, permit the modeling of a long-term thermal history of the crust and constrain variable denudation rates.Using these data, a temperature-time diagram reflects a period of accelerated exhumation during the end of the Brasiliano Orogeny, followed by long stability and reactivation of the platform during the Rifting Phase of the South Atlantic Ocean.U/Pb zircon and monazite (blocking temperature of ca. 650degreesC) data from a series of igneous bodies suggest that a tangential and transpressional tectonic regime occurred between 625 and 610 Ma. During the following escape tectonics, between 610 and 590 Ma the exhumation process indicates cooling rates of ca. 12degreesC/Ma. Ar-40/Ar-39 biotite ages between 540 and 510 Ma (ca. 300degreesC) and a corrected fission-track age on apatites (100degreesC) of 480 Ma indicate an exhumation event related to block tectonics with huge vertical displacement along shear zones.A long stabilization phase, with low exhumation, and cooling rate around 0.25degreesC/Ma was recorded from the Cambro/Ordovician to the Mesozoic. At 65 Ma an acceleration of the exhumation through denudation and reworking of the South American surface with cooling rate of 1.5degreesC/Ma is observed.The uplift of the Mantiqueira and Serra do Mar mountain ranges along the southeast Brazilian coastline works as a climatic barrier provoking lateral erosional processes causing long-term scarp retreat, combined with intense, but progressive denudation towards the continent. A denudation of 2.5 to 4 km was calculated for such processes. This lateral retreat of escarpments and flexural response can provide important insights regarding marginal isostatic uplift and the evolution of offshore sedimentary basins of southeast Brazil.

Germinative pretreatments to dormancy break in Guazuma ulmifolia Lam. seeds

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

O revelar da paixão: as relações estabelecidas entre coreógrafo, bailarinos e obra no processo de criação do Pas de Deux de Bachiana n.1

Pós-graduação em Artes - IA

An Ultracapacitor-Based No-Break System for Microcomputers

This work aims at presenting a no-break system for microcomputers using ultracapacitors in replacement of the conventional chemical batteries. We analyzed the most relevant data about average power consumption of microcomputers, electrical and mechanical characteristics of ultracapacitors and operation of no-break power circuits, to propose a configuration capable of working properly with a microcomputer switching mode power supply. Our solution was a sixteen-component ultracapacitor bank, with a total capacitance of 350 F and voltage of 10.8 V, adequate to integrate a low-capacity no-break system, capable of feeding a load of 180 Wh, during 75 s. Our proposed no-break increases the reliability of microcomputers by reducing the probability of user data losses, in case of a power grid failure, offering, so, a high benefit-cost ratio. The replacement of the battery by ultracapacitors allows a quick no-break recharge and low maintenance costs, since these modern components have a lifetime longer than the batteries. Moreover, this solution reduces the environmental impact and eliminates the constant recharge of the energy storage device.

Piezoelectric transducers assessed by the pencil lead break for impedance-based structural health monitoring

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Mean-Field critical behavior and ergodicity break in a nonequilibrium one-dimensional RSOS growth model

We investigate the nonequilibrium roughening transition of a one-dimensional restricted solid-on-solid model by directly sampling the stationary probability density of a suitable order parameter as the surface adsorption rate varies. The shapes of the probability density histograms suggest a typical Ginzburg-Landau scenario for the phase transition of the model, and estimates of the "magnetic" exponent seem to confirm its mean-field critical behavior. We also found that the flipping times between the metastable phases of the model scale exponentially with the system size, signaling the breaking of ergodicity in the thermodynamic limit. Incidentally, we discovered that a closely related model not considered before also displays a phase transition with the same critical behavior as the original model. Our results support the usefulness of off-critical histogram techniques in the investigation of nonequilibrium phase transitions. We also briefly discuss in the appendix a good and simple pseudo-random number generator used in our simulations.