Excited State Pathways Leading to Formation of Adenine Dimers

International audienceThe reaction intermediate in the path leading to UV-induced formation ofadenine dimers A=A and AA* is identified for the first time quantum mechanically, usingPCM/TD-DFT calculations on (dA)2 (dA: 2′deoxyadenosine). In parallel, its fingerprint isdetected in the absorption spectra recorded on the millisecond time-scale for the singlestrand (dA)20 (dA: 2′deoxyadenosine)

Deciphering the pH-dependence of ground- and excited-state equilibria of thienoguanine

The thienoguanine nucleobase (thGb) is an isomorphic fluorescent analogue of guanine. In aqueous buffer at neutral pH, thGb exists as a mixture of two ground-state H1 and H3 keto-amino tautomers with distinct absorption and emission spectra and high quantum yield. In this work, we performed the first systematic photophysical characterization of thGb as a function of pH (2 to 12). Steady-state and time-resolved fluorescence spectroscopies, supplemented with theoretical calculations, enabled us to identify three additional thGb forms, resulting from pH-dependent ground-state and excited-state reactions. Moreover, a thorough analysis allowed us to retrieve their individual absorption and emission spectra as well as the equilibrium constants which govern their interconversion. From these data, the complete photoluminescence pathway of thGb in aqueous solution and its dependence as a function of pH was deduced. As the identified forms differ by their spectra and fluorescence lifetime, thGb could be used as a probe for sensing local pH changes under acidic conditions

Anatomical characterization of central, apical and minimal corneal thickness

<b>AIM:</b> To anatomically locate the points of minimum corneal thickness and central corneal thickness (pupil center) in relation to the corneal apex.<b>METHODS:</b> Observational, cross-sectional study, 299 healthy volunteers. Thickness at the corneal apex (AT), minimum corneal thickness (MT) and corneal thickness at the pupil center (PT) were determined using the pentacam. Distances from the corneal apex to MT (MD) and PT (PD) were calculated and their quadrant position (taking the corneal apex as the reference) determined:point of minimum thickness (MC) and point of central thickness (PC) depending on the quadrant position. Two multivariate linear regression models were constructed to examine the influence of age, gender, power of the flattest and steepest corneal axes, position of the flattest axis, corneal volume (determined using the Pentacam) and PT on MD and PD. The effects of these variables on MC and PC were also determined in two multinomial regression models.<b>RESULTS:</b> MT was located at a mean distance of 0.909 mm from the apex (79.4% in the inferior-temporal quadrant). PT was located at a mean distance of 0.156 mm from the apex. The linear regression model for MD indicated it was significantly influenced by corneal volume (B=-0.024; 95%CI:-0.043 to -0.004). No significant relations were identified in the linear regression model for PD or the multinomial logistic regressions for MC and PC.<b>CONCLUSION:</b> MT was typically located at the inferior-temporal quadrant of the cornea and its distance to the corneal apex tended to decrease with the increment of corneal volume

Phenological Study of 53 Spanish Minority Grape Varieties to Search for Adaptation of Vitiviniculture to Climate Change Conditions

The main phenological stages (budburst, flowering, veraison, and ripeness) of 53 Spanish minority varieties were studied to determine their potential to help winegrowers adapt to climate change conditions. In total, 43 varieties were studied in the same location in Spain (Alcalá de Henares, in the Madrid region) and 10 varieties in 5 other regions (Galicia, Navarre, Catalonia, Extremadura, and Andalusia). Other traits of agronomic and oenological interest, such as yield and acidity, were also monitored. The results allow for the grouping of the varieties into several clusters according to the time of ripeness (very early—only for red varieties—and early, intermediate, and late, for both red and white varieties) and yield (high, medium, and low). The total acidity in the grape juice ranged from 3 to 11 g of tartaric acid/L. The average temperatures were higher (up to 3–4 °C during summer) compared to historical averages during the 1957–2021 time period. Advanced phenology phases and reduced acidity are regarded as negative effects of climate change for winegrowing practices. Since some minority varieties showed late or intermediate ripening, high acidity, and high (1 Kg/shoot) or medium (0.5 Kg/shoot) yield, our findings suggest that they may be cultivated in the coming years by winegrowers as an approach to mitigate climate change effects.info:eu-repo/semantics/publishedVersio

Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder

Pathogenic hemizygous or heterozygous mutations in the IQSEC2 gene cause X-linked intellectual developmental disorder-1 (XLID1), characterized by a variable phenotype including developmental delay, intellectual disability, epilepsy, hypotonia, autism, microcephaly and stereotypies. It affects both males and females typically through loss of function in males and haploinsufficiency in heterozygous females. Females are generally less affected than males. Two novel unrelated cases, one male and one female, with de novo IQSEC2 variants were detected by trio-based whole exome sequencing. The female case had a previously undescribed frameshift mutation (NM_001111125:c.3300dup; p.Met1101Tyrfs*5), and the male showed an intronic variant in intron 6, with a previously unknown effect (NM_001111125:c.2459+21C&gt;T). IQSEC2 gene expression study revealed that this intronic variant created an alternative donor splicing site and an aberrant product, with the inclusion of 19bp, confirming the pathogenic effect of the intron variant. Moreover, a strong reduction in the expression of the long, but also the short IQSEC2 isoforms, was detected in the male correlating with a more severe phenotype, while the female case showed no decreased expression of the short isoform, and milder effects of the disease. This suggests that the abnormal expression levels of the different IQSEC2 transcripts could be implicated in the severity of disease manifestations.This research was funded by INSTITUTO DE SALUD CARLOS III, institutional project Spain UDP and grant PT20CIII/00009.S

Progress in creating a joint research agenda that allows networked long-term socio-ecological research in southern South America : addressing crucial technological and human capacity gaps limiting its application in Chile and Argentina

Since 1980, more than 40 countries have implemented long-term ecological research (LTER) programs, which have shown their power to affect advances in basic science to understand the natural world at meaningful temporal and spatial scales and also help link research with socially relevant outcomes. Recently, a disciplinary paradigmatic shift has integrated the human dimensions of ecosystems, leading to a long-term socio-ecological research (LTSER) framework to address the world's current environmental challenges. A global gap in LTER/LTSER only exists in the latitudinal range of 40–60°S, corresponding to Argentina and Chile's temperate/sub-Antarctic biome. A team of Chilean, Argentine and US researchers has participated in an ongoing dialogue to define not only conceptual, but also practical barriers limiting LTER/LTSER in southern South America. We have found a number of existing long-term research sites and platforms throughout the region, but at the same time it has been concluded an agenda is needed to create and implement further training courses for students, postdoctoral fellows and young scientists, particularly in the areas of data and information management systems. Since LTER/LTSER efforts in Chile and Argentina are incipient, instituting such courses now will enhance human and technical capacity of the natural science and resource community to improve the collection, storage, analysis and dissemination of information in emerging LTER/LTSER platforms. In turn, having this capacity, as well as the ongoing formalization of LTER/LTSER programs at national levels, will allow the enhancement of crucial collaborations and comparisons between long-term research programs within the region and between hemispheres and continents. For Spanish version of the entire article, see Online Supporting Information (Appendix S1).Desde 1980, más de cuarenta países han implementado programas de Investigación Ecológica a Largo Plazo (LTER por sus siglas en inglés), los cuales han mostrado su capacidad para influir sobre los avances en las ciencias básicas que permiten entender el mundo natural en escalas temporales y espaciales significativas, y también ayudar a enfocar la investigación hacia estudios socialmente relevantes. Recientemente, gracias a un cambio de paradigma en la disciplina, se integró también la dimensión humana de los ecosistemas, llevándola a un marco conceptual de Investigación Socio-Ecológica a Largo Plazo (LTSER por sus siglas en inglés) para enfrentar los desafíos medio-ambientales del mundo actual. Existe un vacío global en LTER/LTSER en el rango latitudinal de 40–60°S, correspondiente a los biomas templados/subantárticos de Argentina y Chile. Un equipo de investigadores chilenos, argentinos y estadounidenses ha trabajado por varios años para definir cuáles son la barreras que actualmente limitan la creación de una Red de LTER/LTSER en el sur de Sudamérica, no solamente en términos conceptuales, sino también a nivel práctico. Existe un buen número de sitios de investigación a largo plazo en la región, pero también concluimos que es necesario crear e implementar más cursos de capacitación para estudiantes, investigadores post-doctorales y jóvenes científicos, particularmente en las áreas de sistemas de manejo de datos e información. Considerando que los esfuerzos LTER/LTSER en Chile y Argentina son incipientes, este tipo de cursos podría mejorar la capacidad humana y técnica en la comunidad de las ciencias y los recursos naturales, así como mejorar los procesos de recolección, almacenamiento, análisis y difusión de la información. A su vez, la formalización de cursos de programas LTER/LTSER a nivel nacional para adquirir dicha capacidad de manejo de la información, permitirá un fortalecimiento crucial de las colaboraciones y comparaciones entre programas de investigación a largo plazo dentro de la región, y entre hemisferios y continentes. La versión en castellano del artículo se encuentra disponible en forma digital como Online Supporting Information S1.Fil: Anderson, Chistopher B. University of North Texas. Department of Biological Sciences; Estados UnidosFil: Celis-Diez, Juan Luis. Pontificia Universidad Católica de Valparaíso, Escuela de Agronomía; ChileFil: Bond, Barbara J.H.G. Oregon State University. Andrews Forest Long-Term Ecological Research Site. Department of Forest Ecosystems and Society; Estados UnidosFil: Martínez Pastur, Guillermo José. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Austral de Investigaciones Cientificas; ArgentinaFil: Little, Christian. Universidad Austral de Chile. Facultad de Ciencias. Instituto de Ciencias de la Tierra y Evolución; Chile. Fundación Centro de los Bosques Nativos FORECOS; ChileFil: Armesto, Juan J. Pontificia Universidad Católica de Valparaíso, Escuela de Agronomía; ChileFil: Ghersa, Claudio Marco. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura. Universidad de Buenos Aires. Facultad de Agronomía. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; ArgentinaFil: Austin, Amy Theresa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura. Universidad de Buenos Aires. Facultad de Agronomía. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; ArgentinaFil: Schlichter, Tomas Miguel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Bariloche. Grupo de Ecología Forestal; ArgentinaFil: Lara, Antonio. Fundación Centro de los Bosques Nativos FORECOS; Chile. Universidad Austral de Chile. Facultad de Ciencias Forestales y Recursos Naturales. Instituto de Silvicultura; ChileFil: Carmona, Martin. Universidad de Chile. Instituto de Ecologıa y Biodiversidad; ChileFil: Chaneton, Enrique Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Fisiológicas y Ecológicas Vinculadas a la Agricultura; Argentina. Universidad de Buenos Aires. Facultad de Agronomia. Departamento de Recursos Naturales y Ambiente; ArgentinaFil: Gutierrez, Julio R. Universidad de La Serena. Departamento de Biología. Instituto de Ecología y Biodiversidad. Centro de Estudios Avanzados en Zonas Aridas; ChileFil: Rozzi, Ricardo. Universidad de La Serena. Departamento de Biología. Instituto de Ecología y Biodiversidad; ChileFil: Vanderbilt, Kristin University of New Mexico. Department of Biology. Sevilleta Long-Term Ecological Research Site; Estados UnidosFil: Oyarce, Guillermo University of North Texas. Library and Information Sciences; Estados UnidosFil: Fernandez, Roberto J. University of North Texas, Department of Biological Sciences; Estados Unido

Partial deletion 5p and partial duplication 5q due to paternal pericentric inversion

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCDuring the meiotic process, most of the structural balanced chromosome alterations will affect either the specific chromosome pairing, or the chromosome and cromatides segregation, due to the number and type of chiasmata of the chromosomes implicated in those balanced rearrangements. Thus, the major clinical significance for normal carriers is the risk of transmition to their offspring unbalanced derivative. Here we present a malformed newborn infant with an abnormal chromosome 5 consisting in a partial deletion 5p and a partial duplication 5q. This abnormal chromosome 5 was a recombinant chromosome derived from a large paternal pericentric inversion. The cytogenetic study of the family showed that there were some other members who were carriers of the same balanced inversion. The clinical features of this patient are a mixture of some anomalies clearly related to the 5p deletion or "Cri-du-Chat" syndrome, like the crying and facial appearance, together with other that are describe on patients with 5q duplication, like the cardiac malformation. Nevertheless, he also shows some congenital defects as preauricular tags and anal atresia that, as for as we know, have not been previously described in patients with a similar chromosomal alteration. A literature review was performed of the genes localize at the chromosome regions involve in the inversion, in an effort to establish a relation with the patient phenotype.N

HPM Approximations for Trajectories: From a Golf Ball Path to Mercury’s Orbit

In this work, we propose the approximated analytical solutions for two highly nonlinear problems using the homotopy perturbation method (HPM). We obtained approximations for a golf ball trajectory model and a Mercury orbit’s model. In addition, to enlarge the domain of convergence of the first case study, we apply the Laplace-Padé resummation method to the HPM series solution. For both case studies, we were able to obtain approximations in good agreement with numerical methods, depicting the basic nature of the trajectories of the phenomena

The OTELO survey: A case study of [O III] lambda 4959,5007 emitters at z=0.83

Context. The OSIRIS Tunable Filter Emission Line Object (OTELO) survey is a very deep, blind exploration of a selected region of the Extended Groth Strip and is designed for finding emission-line sources (ELSs). The survey design, observations, data reduction, astrometry, and photometry, as well as the correlation with ancillary data used to obtain a final catalogue, including photo-z estimates and a preliminary selection of ELS, were described in a previous contribution. Aims. Here, we aim to determine the main properties and luminosity function (LF) of the [O III] ELS sample of OTELO as a scientific demonstration of its capabilities, advantages, and complementarity with respect to other surveys. Methods. The selection and analysis procedures of ELS candidates obtained using tunable filter pseudo-spectra are described. We performed simulations in the parameter space of the survey to obtain emission-line detection probabilities. Relevant characteristics of [O III] emitters and the LF ([O III]), including the main selection biases and uncertainties, are presented. Results. From 541 preliminary emission-line source candidates selected around z = 0.8, a total of 184 sources were confirmed as [O III] emitters. Consistent with simulations, the minimum detectable line flux and equivalent width in this ELS sample are ∼5 × 10−19 erg s−1 cm2 and ∼6 Å, respectively. We are able to constrain the faint-end slope (α = −1.03 ± 0.08) of the observed LF ([O III]) at a mean redshift of z = 0.83. This LF reaches values that are approximately ten times lower than those from other surveys. The vast majority (84%) of the morphologically classified [O III] ELSs are disc-like sources, and 87% of this sample is comprised of galaxies with stellar masses of M⋆ <  1010 M⊙