Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

<p>Abstract</p> <p>Background</p> <p>Smith-Magenis Syndrome is a contiguous gene syndrome in which the dosage sensitive gene has been identified: the Retinoic Acid Induced 1 (<it>RAI1</it>). Little is known about the function of human RAI1.</p> <p>Results</p> <p>We generated the full-length cDNA of the wild type protein and five mutated forms: <it>RAI1-HA </it>2687delC, <it>RAI1-HA </it>3103delC, <it>RAI1 </it>R960X, <it>RAI1-HA </it>Q1562R, and <it>RAI1-HA </it>S1808N. Four of them have been previously associated with SMS clinical phenotype. Molecular weight, subcellular localization and transcription factor activity of the wild type and mutant forms were studied by western blot, immunofluorescence and luciferase assays respectively. The wild type protein and the two missense mutations presented a higher molecular weight than expected, localized to the nucleus and activated transcription of a reporter gene. The frameshift mutations generated a truncated polypeptide with transcription factor activity but abnormal subcellular localization, and the same was true for the 1-960aa N-terminal half of RAI1. Two different C-terminal halves of the RAI1 protein (1038aa-end and 1229aa-end) were able to localize into the nucleus but had no transactivation activity.</p> <p>Conclusion</p> <p>Our results indicate that transcription factor activity and subcellular localization signals reside in two separate domains of the protein and both are essential for the correct functionality of RAI1. The pathogenic outcome of some of the mutated forms can be explained by the dissociation of these two domains.</p

Serratia strains isolated from the rhizosphere of raulí ( Nothofagus alpina ) in volcanic soils harbour PGPR mechanisms and promote raulí plantlet growth

[EN] Raulí is one of the most emblematic tree species of the Chilean temperate forests. Due to the high quality wood, this tree has been used for furniture and handicrafts manufacturing, which has positioned raulí as one of the most important commercial timber species in Chile. Currently, the international market demands sustainable production system for forest production, more specifically in plantlets production. In this regard, plant growthpromoting rhizobacteria (PGPR) inoculants may enhance the growth and survival of plantlets in nurseries, which means an increase in the effectiveness of replanting operations. Therefore, the aim of the present study was to isolate, characterize and screen rhizosphere-associated bacteria with PGPR potential, isolated from raulí that growth in volcanic soils in southern Chile. A total of 1,261 bacterial strains were isolated from different volcanic soils. Out of 1,261 isolates, 100 were selected based on their high levels of indole acetic acid (IAA) production. These isolates were then subjected to screening for 1-aminocyclopropane-1-carboxylic acid deaminase activity, and their ability to fix nitrogen was determined. From the 100 selected isolates, 7 were chosen for producing the highest amount of IAA to continue with genetic characterization based on their 16S rRNA gene sequences. These 7 isolates were characterized as members of the Serratia genus and were used to develop multi-strain inoculant mixtures. Later, a nursery study followed to determine the effect of inoculation with the Serratia strains on the growth of RA88 raulí clone plantlets. The nursery experiment demonstrated that Serratia strains have the potential to increase the root collar diameter, height, relative chlorophyll content, biomass and nitrogen content of raulí plantlets. The study concluded, that Serratia strains have the potential to be used as biofertilizers to increase plant growth in nursery conditions

Using remote sensing to detect whale strandings in remote areas: the case of sei whales mass mortality in Chilean Patagonia

We test the ability of Very High Resolution satellite (VHR) imagery to detect stranded whales using both manual and automated methods. We use the 2015 mass mortality event in the Gulf of Penas locality, central Patagonia, Chile, as an initial case study. This event was the largest known mass mortality of baleen whales, with at least 343 whales, mainly sei whales (Balaenoptera borealis), documented as stranding. However, even with such a large number of whales, due to the remote location of the gulf the strandings went unrecorded for several weeks. Aerial and boat surveys of the area were conducted two to four months after the mortality event. In this study we use 50cm resolution WorldView2 imagery to identify and count strandings from two archival images acquired just after the stranding event and two months before the aerial and ground surveys, and to test manual and automated methods of detecting stranded whales. Our findings show that whales are easily detected manually in the images but due to the heterogeneous colouration of decomposing whales, spectral indices are unsuitable for automatic detection. Our satellite counts suggest that, at the time the satellite images were taken, more whales were stranded than recorded in the aerial survey, possibly due to the non-comprehensive coverage of the aerial survey or movement of the carcases between survey acquisition. With even higher resolution imagery now available, satellite imagery may be a cost effective alternative to aerial surveys for future assessment of the extent of mass whale stranding events, especially in remote and inaccessible areas

Estrategias de prevención en el paciente con deficiencia auditiva

El mayor obstáculo en la atención odontoló­gica de personas con deficiencias auditivas se establece por la dificultad en la comunicación. El objetivo del trabajo fue valorar el impacto de una estrategia de prevención implementada en pacientes sordos e hipoacúsicos. La Escue­la Especial N° 9 para sordos e hipoacúsicos “Helen Keller” de la ciudad de Corrientes, es una institución pública donde asisten 120 alumnos con diferentes capacidades auditivas. A los alumnos se los instruyó en el desarrollo de una correcta técnica de cepillado y se de­terminaron los índices Gingival y de placa bac­teriana, usando como estrategia para la trans­misión de la información, diferentes técnicas de comunicación. Los datos obtenidos fueron procesados utilizando el Programa Infostat. Se evaluaron 60 pacientes, 34 de sexo masculino y 26 de sexo femenino, con una edad prome­dio de I 1.2 años. El 84% de los pacientes pre­sentaron, en el primer control, valores compa­tibles con salud a nivel gingival (s a I) y el 94% presentó valores no compatibles con salud en cuanto a la presencia de placa bacteriana en la cavidad bucal (2 a 20%). En el segundo control, se incrementó el porcentaje de pacientes con grado 0. En el segundo control del índice de placa sólo los que recibieron información por medio de un intérprete demostraron descen­so en los valores. En los pacientes sordos y con deficiencias auditivas, no se logra una co­municación efectiva. Es necesaria la presencia de un intérprete, en el marco de las estrategias de prevención.

Correction: Using remote sensing to detect whale strandings in remote areas: The case of sei whales mass mortality in Chilean Patagonia.

[This corrects the article DOI: 10.1371/journal.pone.0222498.]