Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from similar to 250 kb to similar to 2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2.

Two-photon absorption of perylene derivatives: Interpreting the spectral structure

This work investigates the two-photon absorption spectrum of perylene tetracarboxylic derivatives using the white-light continuum Z-scan technique. Perylene derivatives present relatively high two-photon absorption cross-section, which makes them attractive for applications in photonics. Because of the spectral resolution of the white-light continuum Z-scan, we were able to observe a well defined structure in the two-photon absorption spectrum, composed by two distinct peaks. These peaks, as well as the resonant enhancement of the nonlinearity, were modeled using the sum-over-states approach considering a four-level energy diagram with two final two-photon states. The existence of such states was confirmed using the response function formalism within the DFT framework. (C) 2009 Elsevier B.V. All rights reserved.

Study of absorption spectrum and dynamics evaluation of the indocyanine-green first singlet excited state

Excited state absorption and excited state dynamics of indocyanine-green (ICG) dissolved in dymethyl sulfoxide were measured using white-light continuum Z-scan (WLCZScan) and white-light continuum pump-probe (WLCPP) techniques. The excited state absorption spectrum, obtained through Z-scan measurements, revealed saturable absorption (SA) for wavelengths longer than 630 nm, while reverse saturable absorption (RSA) appeared, as indicated by a band at approximately 570 nm. Both processes were modeled by a three-energy-level diagram, from which the excited state cross-section values were determined. SA and RSA were also observed in pump-probe experiments, with a recovery time in the hundreds of picoseconds time scale due to the long lifetime of the first excited state of ICG. Such results contribute to the understanding of ICG optical properties, allowing application in photonics and medicine. Copyright (C) 2010 John Wiley & Sons, Ltd.

Menezesite, the first natural heteropolyniobate, from Cajati, Sao Paulo, Brazil: Description and crystal structure

Menezesite, ideally Ba2MgZr4(BaNb12O42)center dot 12H(2)O, occurs as a vug mineral in the contact zone between dolomite carbonatite and ""jacupirangite"" (=a pyroxenite) at the Jacupiranga mine, in Cajati county, Sao Paulo state, Brazil, associated with dolomite, calcite, magnetite, clinohumite, phlogopite, ancylite-(Ce), strontianite, pyrite, and tochilinite. This is also the type locality for quintinite-2H. The mineral forms rhombododecahedra up to I mm, isolated or in aggregates. Menezesite is transparent and displays a vitreous luster; it is reddish brown with a white streak. It is non-fluorescent. Mohs hardness is about 4. Calculated density derived from the empirical formula is 4.181 g/cm(3). It is isotropic, 1.93(1) (white light); n(calc) = 2.034. Menezesite exhibits weak anomalous birefringence. The empirical formula is (Ba1.47K0.53Ca0.3,Ce0.17Nd0.10Na0.06La0.02)(Sigma 2.66)(Mg0.94Mn0.23Fe0.23Al0.03)(Sigma 1.43)(Zr2.75Ti0.96Th0.29)(Sigma 4.00)[(Ba0.72Th0.26U0.02)(Sigma 1.00)(Nb9.23Ti2.29Ta0.36Si0.12)Sigma O-12.00(42)]center dot 12H(2)O. The mineral is cubic, space group 10 (204), a = 13.017(1) angstrom, V = 2206(1) angstrom(3), Z = 2. Menezesite is isostructural with the synthetic compound Mg-7[MgW12O42](OH)(4)center dot 8H(2)O. The mineral was named in honor of Luiz Alberto Dias Menezes Filho (born 1950), mining engineer, mineral collector and merchant. Both the description and the name were approved by the CNMMN-IMA (Nomenclature Proposal 2005-023). Menezesite is the first natural heteropolyniobate. Heteropolyanions have been employed in a range of applications that include virus-binding inorganic drugs (including the AIDs virus), homogeneous and heterogeneous catalysts, electro-optic and electrochromic materials, metal and protein binding, and as building blocks for nanostructuring of materials.

Theoretical and experimental optical holography

The intent of this paper is to present an analysis of optical holography. Both the physical theory behind holography and the experimental techniques used in making holograms will be presented. To accomplish this goal, the paper is divided into two independent sections: the theoretical section followed by the experimental section. Each section is intended to be a complete unit. The Theoretical Section is an exposure to the theory behind holography. This consists of a review of the concepts of interference and diffraction. followed by a brief review of partial coherence. The remaining part of the Theoretical Section is devoted to the mathematical analysis of optical holography. The Experimental Section begins with an introduction to the equipment and facilities currently available for optical holography at Colby College. Holographic procedures is dominated by the description of transmission holography (v.s. reflection. or white-light. holography). After these general holographic procedures a few variations on the basic transmission hologram are presented. The experimental section will end with an introduction to holographic interferometry, a major application of holographic techniques.

Produção de snacks funcionais à base de farinha de soja e polvilho azedo

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

Morphological, behavioral and biological aspects of Azya luteipes Mulsant fed on Coccus viridis (Green)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Control of Salmonella enterica serovar Enteritidis in laying hens by inactivated Salmonella Enteritidis vaccines

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

Efeito da temperatura e da luz na germinação de sementes de Acacia polyphylla DC.

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

Armazenamento e requerimento fotoblástico de sementes de Acacia polyphylla DC

Acacia polyphyla (Mimosaceae) é uma espécie arbórea nativa do Brasil, importante para a recuperação de áreas degradadas. Sementes dessa espécie foram armazenadas em condições naturais e artificiais, com os objetivos de avaliar a longevidade das sementes no solo, conservar a sua qualidade fisiológica pelo período correspondente a duas colheitas e verificar o requerimento fotoblástico das sementes armazenadas. em condições naturais, as sementes foram enterradas em clareira, sob dossel ralo e sob dossel denso. As sementes deterioraram rapidamente, revelando-se incapazes de compor o banco de sementes do solo. em condições artificiais, as sementes foram acondicionadas em diferentes embalagens e armazenadas por dois anos em ambiente não controlado e em câmara fria. Periodicamente, as sementes foram colocadas para germinar a 25ºC, na ausência de luz e sob fotoperíodo de oito horas sob luzes branca e de sombreamento. Durante todo o período de armazenamento, a germinação no escuro foi inferior à constatada sob luzes branca e de sombreamento. A qualidade fisiológica foi conservada por dois anos, quando as sementes foram acondicionadas em embalagem impermeável e armazenadas em câmara fria. O comportamento germinativo das sementes armazenadas por dois anos foi comparado com o de sementes recém-colhidas, em temperaturas constante e alternada, não sendo constatado efeito da idade e do regime de temperatura no requerimento fotoblástico das sementes.

Germinação de sementes de pau-ferro submetidas a diferentes condições de armazenamento, escarificação química, temperatura e luz

Caesalpinia leiostachya (Benth.) Ducke (pau-ferro) é uma planta arbórea nativa do Brasil, cujas sementes possuem dormência causada pela impermeabilidade do tegumento à água. Neste trabalho foram conduzidos dois experimentos, nos quais foram utilizados diferentes períodos de escarificação em ácido sulfúrico concentrado para superar a dormência das sementes. No primeiro experimento, sementes coletadas em agosto de 1997 foram armazenadas por oito meses em ambiente não controlado no interior do próprio fruto, e em câmara seca após serem extraídas dos frutos; a seguir, elas foram imersas em ácido sulfúrico por 0, 10, 20, 40, 60 e 80min e colocadas para germinar nas temperaturas constante de 25ºC e alternada de 20-30°C, sob fotoperíodo de 8h. No segundo experimento, sementes extraídas de frutos recém-coletados em agosto de 1998 foram imersas em ácido sulfúrico por 0, 10, 20, 30, 40 e 60min, seguido do teste de germinação conduzido nas mesmas temperaturas do experimento anterior, na ausência e presença de luz. Foram avaliados a porcentagem final e o índice de velocidade de germinação das sementes. Os resultados mostraram que (a) a manutenção das sementes no interior dos frutos é uma alternativa viável para o armazenamento durante o período adotado; (b) as sementes recém-coletadas são indiferentes à luz, nas duas temperaturas testadas; (c) as sementes recém-coletadas e as armazenadas germinam em maior velocidade a 25ºC; (d) em sementes armazenadas, a imersão em ácido sulfúrico por 10min é suficiente para superar a dormência; (e) em sementes recém-coletadas, a imersão em ácido sulfúrico por 20 a 30min favorece a porcentagem e a velocidade de germinação.

Crescimento in vitro e aclimatização de Cattleya loddigesii Lindley (Orchidaceae) com carvão ativado sob dois espectros luminosos

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

Utilização do teste de raios - x na avaliação dos efeitos da dessecação e infestação em diásporos de Canela-Batalha - Cryptocarya aschersoniana Mez (Lauraceae)

No presente trabalho, objetivou-se avaliar os efeitos da dessecação e identificar lesões por predação por insetos, em diásporos de canela-batalha (Cryptocarya aschersoniana Mez.), utilizando-se testes de raios X. Os danos provocados pela dessecação foram dimensionados nas imagens e associados à formação de plântulas. Diásporos recém-beneficiados (45 % de umidade e 37 % de germinação) foram colocados para secar em sala climatizada (20 ºC e 60 % UR), dentro de bandejas plásticas em camada única. Posteriormente, com o intuito de acelerar o processo de secagem, foram colocados em caixas de secagem com solução saturada de hidróxido de sódio (28 % UR) e amostrados com 45, 37, 35, 31 e 26 % de umidade. Para as radiografias, utilizou-se a intensidade de radiação de 40 kVp e tempo de exposição de 1,5 minutos. Posteriormente, as radiografias foram fotografadas e as imagens analisadas em computador, sendo medido o afastamento entre o endocarpo e a semente. As sementes foram classificadas em sementes intactas, sementes com afastamento parcial, sementes com afastamento total e sementes predadas. Os testes de germinação foram realizados sobre areia, em germinadores tipo Mangelsdorf a 25 ºC e luz branca constante. Pelos resultados, observa-se que a germinação é comprometida quando o teor de água das sementes fica abaixo de 26 %. Nesse ponto, o afastamento entre o endocarpo e a semente é de 0,65 mm. Houve uma correlação positiva entre a viabilidade das sementes, avaliada pelo teste de germinação, e o afastamento entre o endocarpo e a semente observado nas radiografias. A análise radiográfica possibilita identificar danos provocados por predação após infestação por insetos.

Papel de sinais cromáticos na identificação de parceiros sexuais em sagüi comum (callithrix jacchus)

The literature concerning color vision shows a trichromatic advantage in detecting ripe fruits and young leaves, but there are contradictory results. There is also the suggestion of this type of vision being adapted to perceive socio-sexual signals. Indeed, Old World primates utilize the skin color of conspecifics as a factor of attraction. But in New World primates there is no record of a coloration signal in the body that can be utilized by other group members. The present study aims to: 1- test whether there is a relation between coloration of body regions and ovulatory cycle in female Callithrix jacchus; 2- Determine if this species uses visual signals to choose mates that are sexually receptive. We collected feces from six females during one month to quantify progesterone concentration by EIA. Body region coloration was measured using a portable spectrometer and modeled to obtain the quantum catch of each photoreceptor, the opponency channels and chromatic distance between the points in units of JND. We recorded the behavior of six males exposed to three pairs of females with a cycling and a non-cycling female in each pair using a transparent plexiglass apparatus. The color of different body regions presented a correlation between progesterone concentration and the yellow-blue and red-green visual axes, with the genitalia as the region showing the highest correlation. The visual axis more apt to see the color variations was the yellow-blue in dichromats, and in trichromats were the red-green to face, yellow-blue to abdomen and both chromatic axes to genitalia. There was no difference in the signal detectability between trichromats and dichromats, but the perception pattern differed between the phenotypes, with a better signal detection by the dichromat phenotype 562 and the trichromat phenotype 543/562. During the behavioral experiments males presented longer gaze duration in periods of experimental manipulation and gaze duration was always longer towards cycling females compared to non-cycling females. Male locomotion during experimental manipulation was greater than in the control only during the periovulatory period of the female, indicating greater excitement. The behavior of cycling females was more active than the behavior of the non-cycling ones regarding locomotion and touching of the plexiglass division of the apparatus. Male gaze duration to cycling females increased with decreasing progesterone concentration, but none of the coloration parameters was correlated to the mate preference exhibited. This coloration signal can transmit information to animals of the group about fertility of female. Different from the intense red of the genitalia swellings of Old World primates, marmoset female genitalia became more bluish-green in the fertile period. Males chose fertile females and were able to visually identify the periovulatory period of females. Choice is related to progesterone concentration, but our results do not show relation between coloration and mate preference. Maybe some behavioral measure is associated with the choice

A influência do status social no forrageio de itens camuflados e avermelhados em sagüis (Callithrix jacchus) cativos

Seeing colors can be advantageous, because they are an important signal for providing information about the environment, such as the location of food. However, not every animals sees these chromatic signals in the same way. In primates, the group of Plathyrrhini has polymorphic sex-linked vision with males always dichromats and dichromats or trichromats females. Studies indicate that trichromats during foraging would benefit by seeing better than dichromats ripe fruits against the green foliage background. On the other hand, dichromats appear to distinguish camouflaged insects better than trichromats. The marmoset (Callihtrix jacchus) is a neotropical primate species that have color vision polymorphism. This species establishes family groups with highly reproductive bias, with breeding females often having preferential access to food. This work aims to study whether the social context influences the foraging ability of camouflaged and red items in groups of C. jacchus. Four groups of captive marmosets were presented to four food tasks, involving difficult, easy, reddish and camouflaged food targets. Foods were presented in a concentrated and dispersed manner, to check whether there was monopolization of the resources by the dominant subjects and if this would affect the ability of individuals to find the food targets. Success was measured by latency to food acquisition and number of targets consumed. Males and females differed in their foraging success for camouflaged and reddish items, although this difference has not appeared in all situations and experimental conditions. In general males were more successful for detecting camouflaged items while females succeeded more in identifying reddish items. There were no differences in foraging success between individuals of different social status, however, there were differences in the success of consumption of food items for different situations when food was concentrate compared with dispersed food. Taken as a role, there was a greater difficulty in detecting food items when they were presented in concentrated arrangement, which is supposed to be related to a higher difficulty to approach and stay near the food. Although it appears that there was no direct competition seems to have group's indirect influence on the detection of food items and foraging success of individuals, affecting mainly those items more difficult to detect