Modulation of transcription of sea urchin histone genes by a nuclear protein fraction: studies on the specificity of this activity using the amphibian oocyte microinjection assay

[eng] The early and late histone genes from the sea urchin Strongylocentrotus purpuratus constitute a pair of developmentally regulated genes. The early genes are expressed throughout oogenesis and early development until the blastula stage while the late genes are expressed at low levels until blastula and at higher levels thereafter. Cloned early and late histone H2b genes are transcribed upon injection into Xenopus laevis oocytes. Maxson et al. (1986), have shown that a protein fraction obtained from sea urchin gastrula chromatin stimulates the transcription of both early and late genes when it is injected into oocytes along with them. I have used the technique of primer extension to characterize how several cloned genes are expressed in injected oocytes. The results show that chloramphenicol acetyltransferase (CAT) gene sequences are transcribed from multiple aberrant sites of the pSV2CAT plasmid as efficiently as from the correct start site. On the other hand, the sea urchin histone L1H2b gene and sea urchin Spec 1 gene are transcribed mainly from their correct start sites. Herpes simplex virus thymidine kinase (HSV tk) gene transcripton is also correctly initiated and the amount of transcripts produced is very high as compared to the other genes. I have further studied the effect of the protein fraction from sea urchin gastrula chromatin on the expression of L1H2b gene injected into Xenopus oocytes, focusing on analyzing its specificity. The results show that this fraction contains a stimulatory activity for the transcription of L1H2b gene. The stimulation is reproducible and its magnitude is 10 fold on the average. I have also shown that the stimulation is specific for L1H2b and it does not affect either HSV tk or Spec 1 genes. The activity described may be attributed to a transcription factor that is involved in the developmental regulation of the histone genes in the sea urchin

C syndrome - what do we know and what could the future hold?

In 1969 Opitz et al. described two siblings with a new syndrome, which they called ‘C syndrome of multiple congenital abnormalities’ and was presented as a ‘probably private syndrome’. After this first description, new cases appeared with highly similar phenotypes and a new syndrome, known as C Syndrome, Opitz C Syndrome or Opitz Trigonocephaly Syndrome (OCS; MIM # 211,750) was firmly established

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

BACKGROUND: Annotations of completely sequenced genomes reveal that nearly half of the genes identified are of unknown function, and that some belong to uncharacterized gene families. To help resolve such issues, information can be obtained from the comparative analysis of homologous genes in model organisms. RESULTS: While characterizing genes from the retinitis pigmentosa locus RP26 at 2q31-q33, we have identified a new gene, ORMDL1, that belongs to a novel gene family comprising three genes in humans (ORMDL1, ORMDL2 and ORMDL3), and homologs in yeast, microsporidia, plants, Drosophila, urochordates and vertebrates. The human genes are expressed ubiquitously in adult and fetal tissues. The Drosophila ORMDL homolog is also expressed throughout embryonic and larval stages, particularly in ectodermally derived tissues. The ORMDL genes encode transmembrane proteins anchored in the endoplasmic reticulum (ER). Double knockout of the two Saccharomyces cerevisiae homologs leads to decreased growth rate and greater sensitivity to tunicamycin and dithiothreitol. Yeast mutants can be rescued by human ORMDL homologs. CONCLUSIONS: From protein sequence comparisons we have defined a novel gene family, not previously recognized because of the absence of a characterized functional signature. The sequence conservation of this family from yeast to vertebrates, the maintenance of duplicate copies in different lineages, the ubiquitous pattern of expression in human and Drosophila, the partial functional redundancy of the yeast homologs and phenotypic rescue by the human homologs, strongly support functional conservation. Subcellular localization and the response of yeast mutants to specific agents point to the involvement of ORMDL in protein folding in the ER

Composição química, valorização nutricional, satisfação e aceitabilidade de bagas de goji (Lycium barbarum L.) e produtos elaborados

Introducción: Las bayas de goji son frutas de un color rojo intenso, aproximadamente del tamaño de una pasa de uva y con un sabor que podría asemejarse a una mezcla de arándanos y cerezas. Las bayas frescas tienen un aspecto similar, tanto en la forma como en el tamaño, a la de los tomates cherry. China es el principal proveedor de bayas de goji y se cultiva mayoritariamente en la provincia de Ningxia. Se comercializan principalmente desecadas, pero en el mercado también se encuentran jugos, aceites, extractos, compotas, mermeladas o jaleas, barras de cereal, muesli, y una gran variedad de productos cosméticos. Se les atribuyen numerosas propiedades nutricionales, pero debe destacarse que muy pocas han sido comprobadas científicamente. Objetivos del trabajo: Estudiar las características nutricionales y organolépticas de las bayas de goji y de productos alimenticios elaborados con ellas, compararlos con los mismos productos sin bayas. Cuantificar los macronutrientes y antioxidantes, realizar la valoración nutricional, y determinar la aceptabilidad y satisfacción de los alimentos elaborados. Metodología: Este estudio es descriptivo y asimismo, corresponde a un diseño mixto, ya que presenta una etapa no experimental- transeccional-descriptiva y en otra etapa, el diseño es cuasi-experimental. Resultados y conclusiones: Los alimentos que se elaboraron exitosamente con y sin bayas de goji fueron barritas de cereal y yogur helado, que resultaron con características organolépticas satisfactorias. Los productos elaborados con bayas fueron los que mayor contenido de carbohidratos y proteínas contenían. En el caso de los lípidos, no se observaron grandes diferencias entre los productos elaborados con y sin bayas. Todos los alimentos presentaron fibra alimentaria en su composición. En cuanto al contenido de compuestos fenólicos, los resultados evidenciaron claramente su aumento en los alimentos con bayas de goji. Los resultados del análisis microbiológico del yogurt helado, tanto el elaborado con bayas como sin ellas, se encontraron dentro de los criterios microbiológicos establecidos por el CAA. Desde el punto de vista nutricional, las bayas de goji contienen 101 Kcal en 100 gramos. En cuanto a los productos, los que fueron elaborados con bayas de goji contienen más calorías que los mismos elaborados sin bayas.Introduction: Goji berries are intense red-colored fruits and approximately the size of a raisin. Its taste could be described as a combination of blueberries and cherries. Fresh goji berries are similar in form as well as in size to cherry tomatoes. China is the main supplier of goji berries, which are mostly harvested in the province of Ningxia. They are primarily marketed as dried fruits, but you can also find juices, oils, extracts, compotes, jams or jellies, cereal bars, muesli and a great variety of cosmetic products. Many nutritional properties are attributed to them, but it is worth noting that only a few of them have been proven scientifically. Objectives: To study the nutritional and sensory properties of goji berries and of food products made with them, and to compare these products with those that don't contain goji berries. To quantify the macronutrients and antioxidants, evaluate the nutritional value and determine the acceptability and satisfaction of the finished products. Methodology: This is a descriptive study with a mixed design, since it combines a non-experimental, descriptive and transactional phase with a quasi-experimental phase. Results and conclusions: The foods that were successfully made with and without goji berries were cereal bars and frozen yogurt, resulting in satisfactory sensory properties. The products made with goji berries had a higher amount of carbohydrates and proteins. As regards lipids, there were no significant differences between the products made with and without goji berries. All products had dietary fiber in their composition. Concerning the content of phenolic compounds, the results clearly showed an increase of them in the foods made with goji berries. The results of the microbiological analysis of the frozen yogurt with and without goji berries were found to be within the microbiological criteria established by the Argentine Food Code (CAA). From the nutritional point of view, goji berries contain 101 Kcal per 100 grams. In relation to the products, the ones made with goji berries contain more calories than those without them.Introdução: As bagas de goji são frutas de cor vermelha intensa, aproximadamente do tamanho de uma uva passa e com um sabor que poderia assemelhar-se ao de uma mistura de blueberry e cerejas. As bagas frescas têm um aspecto similar, tanto na forma como no tamanho, às do tomate cereja. A China é o principal fornecedor de bagas de goji e são cultivadas em sua maioria na província de Ningxia. São comercializadas principalmente dessecadas, mas no mercado também se encontram sucos, óleos, extratos, compotas, marmeladas, geleias barra de cereal, musli e uma grande variedade de produtos cosméticos. São atribuídas a elas numerosas propriedades nutricionais, mas é preciso ressaltar que muito poucas foram comprovadas cientificamente. Objetivos do trabalho: Estudar as características nutricionais e organolépticas das bagas de goji e de produtos alimentícios elaborados com elas compará-los com os mesmos produtos sem bagas. Quantificar os macronutrientes e antioxidantes, realizar a valorização nutricional, e determinar a aceitabilidade e satisfação dos alimentos elaborados. Metodologia: Este estudo é descritivo e também, corresponde a um desenho misto, já que apresenta uma etapa não experimental-transversal-descritiva e em outra etapa, o desenho é quase-experimental. Resultados e conclusões: Os alimentos que foram elaborados com sucesso com e sem bagas de gofi foram as barrinhas de cereais e iogurte gelado, que resultaram com característica organolépticas satisfatórias. Os produtos elaborados com bagas foram os que apresentaram maior conteúdo de carboidrato e proteínas. No caso dos lipídios, não foram observadas grandes diferenças entre os produtos elaborados com e sem bagas. Todos os alimentos apresentaram fibra alimentar em sua composição. Quanto ao conteúdo de compostos fenólicos, os resultados evidenciaram claramente o seu aumento nos alimentos com bagas de goji. Os resultados da análise microbiológica do iogurte gelado, tanto o elaborado com bagas como sem elas, estavam dentro dos critérios microbiológicos estabelecidos pelo CAA. Do ponto de vista nutricional, as bagas de goji contêm 101 Kcal em 100 gramas. Quanto aos produtos, os que foram elaborados com bagas de goji contêm mais calorias que os mesmos elaborados sem bagas.Fil: Balcells, Maria Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucuman. Centro de Referencia Para Lactobacilos; Argentina. Universidad del Norte Santo Tomás de Aquino. Facultad de Ciencias de la Salud. Cátedra de Microbiología y Parasitología, Tucumán; ArgentinaFil: Nuñez, Martha Susana. Universidad del Norte Santo Tomás de Aquino; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucuman. Centro de Referencia Para Lactobacilos; ArgentinaFil: Nader, Maria Elena Fatima. Universidad del Norte Santo Tomás de Aquino; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucuman. Centro de Referencia Para Lactobacilos; Argentin

Bone development and remodeling in metabolic disorders

There are many metabolic disorders that present with bone phenotypes. In some cases, the pathological bone symptoms are the main features of the disease whereas in others they are a secondary characteristic. In general, the generation of the bone problems in these disorders is not well understood and the therapeutic options for them are scarce. Bone development occurs in the early stages of embryonic development where the bone formation, or osteogenesis, takes place. This osteogenesis can be produced through the direct transformation of the pre-existing mesenchymal cells into bone tissue (intramembranous ossification) or by the replacement of the cartilage by bone (endochondral ossification). In contrast, bone remodeling takes place during the bone's growth, after the bone development, and continues throughout the whole life. The remodeling involves the removal of mineralized bone by osteoclasts followed by the formation of bone matrix by the osteoblasts, which subsequently becomes mineralized. In some metabolic diseases, bone pathological features are associated with bone development problems but in others they are associated with bone remodeling. Here, we describe three examples of impaired bone development or remodeling in metabolic diseases, including work by others and the results from our research. In particular, we will focus on hereditary multiple exostosis (or osteochondromatosis), Gaucher disease, and the susceptibility to atypical femoral fracture in patients treated with bisphosphonates for several years

La conducta de los instructores de Fitness : triangulación entre la percepción de los practicantes, auto-percepción de los instructores y conducta observada1

El presente estudio tiene como objetivo relacionar la conducta pedagógica observada, la auto-percepción de los instructores de Fitness así como la percepción de los practicantes sobre dicha conducta con el fin de verificar si estos siguen una misma dirección. Se ha aplicado la metodología observacional sistematizada para analizar sesiones de grupo de Fitness de 62 instructores mediante el sistema de observación SOCIF. Los instructores y 442 practicantes de dichas sesiones respondieron un cuestionario sobre los comportamientos pedagógicos de los instructores, con relación a la auto- percepción y la percepción respectivamente. Los resultados de las asociaciones realizadas han corroborado las constataciones de diversos autores (Che- lladurai y Riemer, 1998; De Marco Jr. y Mancini, 1997; Gutiérrez, Pérez y López, 2011; Hanke, 1993; Smith, Smoll y Curtis, 1978, 1979; Tjeerdsma, 1997; Wandzilak, Ansorge y Potter, 1988), pues sólo en parte de los comportamientos pedagógicos la percepción de los practicantes, la auto-percepción de los instructores y la conducta observada tienen una asociación significativa positiva, siguiendo una misma dirección. Se verificó un mayor número de asociaciones significativas positivas entre la conducta observada y la auto-percepción de los instructores que entre la conducta observada y la per- cepción de los practicantes, siendo el número de asociaciones significativas positivas entre la auto-percepción de los instructores y la percepción de los practicantes aún más inferior.The aim of this study is to relate observed pedagogical behaviour, the self-perception of fitness instructors and participant perceptions of the said behaviour in order to verify whether they coincide or not. For this purpose, 62 instructors of resistance training group fitness classes were observed, and their behaviours were coded using the SOCIF observation system. The instructors and the 442 participants of the classes answered a questionnaire regarding their self-perception or perception of the instructors' pedagogical behaviour. A comparison of the results corroborates the findings of other authors (Chelladurai and Riemer, 1998; De Marco Jr. and Mancini, 1997; Gutiérrez et al., 2011; Hanke, 1993; Smith et al., 1978, 1979; Tjeerdsma, 1997; Wandzilak et al., 1988), since significant positive links and a coincidence in the results could only be found for part of the pedagogical behaviours, participant perceptions, instructors' self-perceptions and observed behaviour. A larger number of significant positive associations could be made between observed behaviour and the instructors' self-perceptions than between observed behaviour and participant perceptions. A lower number of significant positive associations were identified between the instructors' self-perceptions and participant perceptions

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome

Bohring‐Opitz syndrome (BOS, MIM #605039) is a rare and severe disease characterized mainly by intrauterine growth retardation, feeding difficulties, severe to profound developmental delay, nonspecific brain abnormalities, microcephaly, flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints (known as BOS posture) and distinctive facial features.1 Heterozygous ASXL1 truncating mutations have been identified as the main cause of BOS.1, 2 A recent publication 3 called the attention to the fact that mutations associated with BOS are also present in the ExAC (Exome Aggregation Consortium) database.4 As ASXL1 is one of the genes most commonly mutated during hematopoietic clonal expansion of cells, the authors hypothesized that the presence of this mutation in public databases could be due to somatic mosaicism, and they could confirm the hypothesis by manual examination of the ExAC WES reads

Sistema de observação da comunicação proxémica do instrutor de fitness (SOPROX-Fitness): desenvolvimento, validação e estudo piloto

Este estudo foi realizado com o propósito de desenvolver e validar o Sistema de Observação da Comunicação Proxémica do Instrutor de Fitness, assim como realizar uma aplicação piloto do mesmo. No processo de desenvolvimento e validação do novo sistema de observação foram consideradas cinco fases sequenciais. No final deste processo foi estabelecida a validade e fiabilidade de 5 dimensões e 23 categorias de comportamento proxémico dos instrutores, criandose a versão final deste sistema de observação. Esta versão do sistema foi aplicada num estudo piloto a uma amostra de 12 instrutores de fitness de quatro atividades de grupo distintas. Os resultados indicam que o comportamento proxémico dos instrutores pode ser codificado com recurso ao Sistema de Observação da Comunicação Proxémica do Instrutor de Fitness, tendo sido realizada uma análise comparativa acerca da sua intervenção nas diversas atividades, ainda que com uma amostra reduzida.The purpose of this study was to develop and validate the Observational System for the Proxemic Communication of the Fitness Instructor, as well as conduct a pilot application of the same. During the development and validation process of the new observation system it was employed five sequential phases. At the end of this process, it was established the validity and reliability of 5 coding dimensions and 23 categories of instructor proxemics behavior to create the final version of the observational system. This version of the observational system was applied in a pilot study conducted in a sample of 12 fitness instructors from four different group-exercise classes. The results indicated that instructor proxemics behaviour could be feasibly coded with the Observational System for the Proxemic Communication of the Fitness Instructor, having been held a comparative analysis about its intervention in the various activities, albeit with a small sample size.Este estudio se realizó con el propósito de desarrollar y validar el Sistema de Observación de la Comunicación Proxémica del Instructor de Fitness, así como llevar a cabo una aplicación piloto de lo mismo. En el proceso de desarrollo y validación del nuevo sistema se ha considerado cinco fases distintas. Al final de este proceso se estableció la validez y fiabilidad de cinco dimensiones y 23 categorías de comportamiento proxémico dos instructores, criando- se la versión final del sistema de observación. Esta versión del sistema fue aplicada en un estudio piloto con una muestra de 12 instructores de fitness de cuatro diferentes actividades de grupo. Los resultados indican que lo comportamiento cinésico dos instructores se pueden codificar a través del sistema de observación de la Comunicación Proxémica del Instructor de Fitness, habiendo sido realizado un análisis comparativo acerca de su intervención en las distintas actividades, aunque con un tamaño de muestra pequeño

Genetics and Genomics of SOST: functional analysis of variants and genomic regulation in osteoblasts

SOST encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal development and bone homeostasis. The objective of this work was to assess the functionality of two variants previously identified (the rare variant rs570754792 and the missense variant p.Val10Ile) and to investigate the physical interactors of the SOST proximal promoter region in bone cells. Through a promoter luciferase reporter assay we show that the minor allele of rs570754792, a variant located in the extended TATA box motif, displays a significant decrease in promoter activity. Likewise, through western blot studies of extracellular and intracellular sclerostin, we observe a reduced expression of the p.Val10Ile mutant protein. Finally, using a circular chromosome conformation capture assay (4C-seq) in 3 bone cell types (MSC, hFOB, Saos-2), we have detected physical interactions between the SOST proximal promoter and the ECR5 enhancer, several additional enhancers located between EVT4 and MEOX1 and a distant region containing exon 18 of DHX8. In conclusion, SOST presents functional regulatory and missense variants that affect its expression and displays physical contacts with far reaching genomic sequences, which may play a role in its regulation within bone cells