58 research outputs found

    Genesis and evolution of the Evx and Mox genes and the extended Hox and ParaHox gene clusters

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    BACKGROUND: Hox and ParaHox gene clusters are thought to have resulted from the duplication of a ProtoHox gene cluster early in metazoan evolution. However, the origin and evolution of the other genes belonging to the extended Hox group of homeobox-containing genes, that is, Mox and Evx, remains obscure. We constructed phylogenetic trees with mouse, amphioxus and Drosophila extended Hox and other related Antennapedia-type homeobox gene sequences and analyzed the linkage data available for such genes. RESULTS: We claim that neither Mox nor Evx is a Hox or ParaHox gene. We propose a scenario that reconciles phylogeny with linkage data, in which an Evx/Mox ancestor gene linked to a ProtoHox cluster was involved in a segmental tandem duplication event that generated an array of all Hox-like genes, referred to as the 'coupled' cluster. A chromosomal breakage within this cluster explains the current composition of the extended Hox cluster (with Evx, Hox and Mox genes) and the ParaHox cluster. CONCLUSIONS: Most studies dealing with the origin and evolution of Hox and ParaHox clusters have not included the Hox-related genes Mox and Evx. Our phylogenetic analyses and the available linkage data in mammalian genomes support an evolutionary scenario in which an ancestor of Evx and Mox was linked to the ProtoHox cluster, and that a tandem duplication of a large genomic region early in metazoan evolution generated the Hox and ParaHox clusters, plus the cluster-neighbors Evx and Mox. The large 'coupled' Hox-like cluster EvxHox/MoxParaHox was subsequently broken, thus grouping the Mox and Evx genes to the Hox clusters, and isolating the ParaHox cluster

    Relacions de gènere en les parelles mixtes residents a les àrees rurals i urbanes del Camp de Tarragona. Un estudi de dones i homes catalans aparellats amb persones estrangeres

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    Des de l’any 2006, i amb diferents equips, hem estat treballant sobre parellesmixtes o matrimonis binacionals en sengles projectes del Plan Nacional deI+D+I:1 primer amb matrimonis entre homes espanyols i dones estrangeres,els majoritaris entre les parelles mixtes espanyoles, i després incorporant tambéles unions de dones espanyoles amb homes estrangers

    A novel semi-fragile forensic watermarking scheme for remote sensing images

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    Peer-reviewedA semi-fragile watermarking scheme for multiple band images is presented. We propose to embed a mark into remote sensing images applying a tree structured vector quantization approach to the pixel signatures, instead of processing each band separately. The signature of themmultispectral or hyperspectral image is used to embed the mark in it order to detect any significant modification of the original image. The image is segmented into threedimensional blocks and a tree structured vector quantizer is built for each block. These trees are manipulated using an iterative algorithm until the resulting block satisfies a required criterion which establishes the embedded mark. The method is shown to be able to preserve the mark under lossy compression (above a given threshold) but, at the same time, it detects possibly forged blocks and their position in the whole image.Se presenta un esquema de marcas de agua semi-frágiles para múltiples imágenes de banda. Proponemos incorporar una marca en imágenes de detección remota, aplicando un enfoque de cuantización del vector de árbol estructurado con las definiciones de píxel, en lugar de procesar cada banda por separado. La firma de la imagen hiperespectral se utiliza para insertar la marca en el mismo orden para detectar cualquier modificación significativa de la imagen original. La imagen es segmentada en bloques tridimensionales y un cuantificador de vector de estructura de árbol se construye para cada bloque. Estos árboles son manipulados utilizando un algoritmo iteractivo hasta que el bloque resultante satisface un criterio necesario que establece la marca incrustada. El método se muestra para poder preservar la marca bajo compresión con pérdida (por encima de un umbral establecido) pero, al mismo tiempo, detecta posiblemente bloques forjados y su posición en la imagen entera.Es presenta un esquema de marques d'aigua semi-fràgils per a múltiples imatges de banda. Proposem incorporar una marca en imatges de detecció remota, aplicant un enfocament de quantització del vector d'arbre estructurat amb les definicions de píxel, en lloc de processar cada banda per separat. La signatura de la imatge hiperespectral s'utilitza per inserir la marca en el mateix ordre per detectar qualsevol modificació significativa de la imatge original. La imatge és segmentada en blocs tridimensionals i un quantificador de vector d'estructura d'arbre es construeix per a cada bloc. Aquests arbres són manipulats utilitzant un algoritme iteractiu fins que el bloc resultant satisfà un criteri necessari que estableix la marca incrustada. El mètode es mostra per poder preservar la marca sota compressió amb pèrdua (per sobre d'un llindar establert) però, al mateix temps, detecta possiblement blocs forjats i la seva posició en la imatge sencera

    Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

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    BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. Therefore, uncovering additional components of this DNA repair pathway is of extreme importance for further understanding cancer development and therapeutic vulnerabilities. Here, we identify EDC4, a known component of processing-bodies and regulator of mRNA decapping, as a member of the BRCA1-BRIP1-TOPBP1 complex. EDC4 plays a key role in homologous recombination by stimulating end resection at double-strand breaks. EDC4 deficiency leads to genome instability and hypersensitivity to DNA interstrand cross-linking drugs and PARP inhibitors. Lack-of-function mutations in EDC4 were detected in BRCA1/2-mutation-negative breast cancer cases, suggesting a role in breast cancer susceptibility. Collectively, this study recognizes EDC4 with a dual role in decapping and DNA repair whose inactivation phenocopies BRCA1 deficiency.España, Ministerio de Economía y Competitividas CB06/07/0023, SAF2012-31881, SAF2013-45836-R and SAF2015-64152-

    Changes in air quality during the lockdown in Barcelona (Spain) one month into the SARS-CoV-2 epidemic

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    Lockdown measures came into force in Spain from March 14th, two weeks after the start of the SARS-CoV-2 epidemic, to reduce the epidemic curve. Our study aims to describe changes in air pollution levels during the lockdown measures in the city of Barcelona (NE Spain), by studying the time evolution of atmospheric pollutants recorded at the urban background and traffic air quality monitoring stations. After two weeks of lockdown, urban air pollution markedly decreased but with substantial differences among pollutants. The most significant reduction was estimated for BC and NO2 (−45 to −51%), pollutants mainly related to traffic emissions. A lower reduction was observed for PM10 (−28 to −31.0%). By contrast, O3 levels increased (+33 to +57% of the 8 h daily maxima), probably due to lower titration of O3 by NO and the decrease of NOx in a VOC-limited environment. Relevant differences in the meteorology of these two periods were also evidenced. The low reduction for PM10 is probably related to a significant regional contribution and the prevailing secondary origin of fine aerosols, but an in-depth evaluation has to be carried out to interpret this lower decrease. There is no defined trend for the low SO2 levels, probably due to the preferential reduction in emissions from the least polluting ships. A reduction of most pollutants to minimal concentrations are expected for the forthcoming weeks because of the more restrictive actions implemented for a total lockdown, which entered into force on March 30th. There are still open questions on why PM10 levels were much less reduced than BC and NO2 and on what is the proportion of the abatement of pollution directly related to the lockdown, without meteorological interferences.The present work was supported by the Spanish Ministry of Agriculture, Fishing, Food and Environment, Madrid City Council and Madrid Regional Government, by the Ministry of Economy, Industry and Competitiveness and FEDER funds under the project HOUSE (CGL2016-78594-R), and by the Generalitat de Catalunya (AGAUR 2015 SGR33), and by the Spanish Ministry of Sciences, Innovation and Universities (EQC2018-004598-P).Peer reviewe

    Análisis de la mejora de los resultados de una asignatura inicial de programación tras cambiar la planificación de actividades

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    El objetivo de este trabajo es comprobar que los cambios introducidos en la planificación de actividades de evaluación continua de una asignatura de introducción a la programación han sido el factor determinante en la mejora de los resultados de los estudiantes. La evaluación continua pasó de tres entregas en el semestre a distribuir semanalmente los mismos contenidos y tareas en diez entregas. Aunque un análisis descriptivo de los datos muestra una mejora importante en la tasa de rendimiento tras el cambio, los estudiantes de cada semestre pueden tener perfiles distintos, circunstancia que puede influir también en los resultados. Así, se ha aplicado la técnica de análisis cuasi experimental Propensity Score Matching para poder comparar los resultados en estas poblaciones potencialmente distintas y comprobar si la mejora se debe efectivamente a la nueva planificación de actividades. Además, se han analizado varios modelos de regresión logística para intentar explicar la influencia del cambio de la planificación en la mejora de los resultados de la asignatura. A la vista del estudio realizado, se concluye que la temporalización semanal de las actividades ha supuesto un cambio positivo en los resultados de la asignatura.The aim of this project is to prove if the planification changes done in the continuous evaluation for the programming course is the key factor that explains the increase in the student’s results. The continuous evaluation of this introductory programming course went from having three deliveries in the semester in the past to distribute the same contents and tasks in ten weekly deliveries. Although the descriptive analysis of the data shows a significant improvement in the performance rate after the change, the students in each semester could have different profiles that also influenced the results. The quasi-experimental analysis technique Propensity Score Matching has been applied to be able to compare the results in these potentially different populations and check if the improvement is due to the new planning of activities. In addition, some logistic regression models have been analysed to explain the influence in the planification changes and its relationship with the results improvement. According to the obtained results, it is concluded that the weekly timing of the activities has led to a positive result in the students’ performance

    Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

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    Background: About 40% of RAS/BRAF wild-type metastatic colorectal cancer (mCRC) patients undergoing anti-EGFR-based therapy have poor outcomes. Treatment failure is not only associated with poorer prognosis but higher healthcare costs. Our aim was to identify novel somatic genetic variants in the primary tumor and assess their effect on anti-EGFR response. Patients and Methods: Tumor (somatic) and blood (germline) DNA samples were obtained from two well-defined cohorts of mCRC patients, those sensitive and those resistant to EGFR blockade. Genetic variant screening of 43 EGFR-related genes was performed using targeted next-generation sequencing (NGS). Relevant clinical data were collected through chart review to assess genetic results. Results: Among 61 patients, 38 were sensitive and 23 were resistant to treatment. We identified eight somatic variants that predicted non-response. Three were located in insulin-related genes (I668N and E1218K in IGF1R, T1156M in IRS2) and three in genes belonging to the LRIG family (T152T in LRIG1, S697L in LRIG2 and V812M in LRIG3). The remaining two variants were found in NRAS (G115Efs*46) and PDGFRA (T301T). We did not identify any somatic variants related to good response. Conclusions: This study provides evidence that novel somatic genetic variants along the EGFR-triggered pathway could modulate the response to anti-EGFR drugs in mCRC patients. It also highlights the influence of insulin-related genes and LRIG genes on anti-EGFR efficacy. Our findings could help characterize patients who are resistant to anti-EGFR blockade despite harboring RAS/BRAF wild-type tumors

    Epigenetic Alterations in Fanconi Anaemia : Role in Pathophysiology and Therapeutic Potential

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    Fanconi anaemia (FA) is an inherited disorder characterized by chromosomal instability. The phenotype is variable, which raises the possibility that it may be affected by other factors, such as epigenetic modifications. These play an important role in oncogenesis and may be pharmacologically manipulated. Our aim was to explore whether the epigenetic profiles in FA differ from non-FA individuals and whether these could be manipulated to alter the disease phenotype. We compared expression of epigenetic genes and DNA methylation profile of tumour suppressor genes between FA and normal samples. FA samples exhibited decreased expression levels of genes involved in epigenetic regulation and hypomethylation in the promoter regions of tumour suppressor genes. Treatment of FA cells with histone deacetylase inhibitor Vorinostat increased the expression of DNM3Tβ and reduced the levels of CIITA and HDAC9, PAK1, USP16, all involved in different aspects of epigenetic and immune regulation. Given the ability of Vorinostat to modulate epigenetic genes in FA patients, we investigated its functional effects on the FA phenotype. This was assessed by incubating FA cells with Vorinostat and quantifying chromosomal breaks induced by DNA cross-linking agents. Treatment of FA cells with Vorinostat resulted in a significant reduction of aberrant cells (81% on average). Our results suggest that epigenetic mechanisms may play a role in oncogenesis in FA. Epigenetic agents may be helpful in improving the phenotype of FA patients, potentially reducing tumour incidence in this population
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