43 research outputs found

    Crustal Imbrication in an Alpine Intraplate Mountain Range: A Wide-Angle Cross-Section Across the Spanish-Portuguese Central System

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    Intraplate ranges are topographic features that can occur far from plate boundaries, the expected position of orogens as described in the plate tectonics theory. To understand the lithospheric structure of intraplate ranges, we focused on the Spanish-Portuguese Central System (SPCS), the most outstanding topographic feature in the central Iberian Peninsula. The SPCS is an Alpine range that exhumes Precambrian-Paleozoic rocks and is located at >200 km from the northern border of the Iberian microplate. Here, we provide a P-wave velocity model based on wide-angle seismic reflection/refraction data of the central SPCS (Gredos sector). Our results show: (a) a layered lithosphere characterized by three major interfaces: Conrad, Mohorovicic, and Hales discontinuities, (b) an asymmetry of the crust-mantle boundary under the SPCS, (c) the extent of the Variscan batholith forming the main outcrops of Gredos, and (d) the thinning of the lower crust toward the south. This model suggests that the exhumation of the SPCS basement was driven by a south-vergent thick-skinned thrust system, developed in the southern part of the SPCS and that promoted crustal imbrication and a Mohorovicic discontinuity's offset under the SPCS. Thus, the deformation mechanisms of the crust seem to be controlled by the presence of the late- to post-Variscan granitoids that assimilated the Variscan mid-crustal detachment creating a new rheological boundary. This tectonic structure allowed the formation of Alpine crustal-scale thrust systems that eased coupled deformation of the upper and lower crust, leading to limited underthrusting of both crustal layers.This study has been funded by the Ministry of Science, Innovation and Competitiveness through the Project CIMDEF (CGL2014-56548-P). IP is funded by the Spanish Government and the University of Salamanca (Beatriz Galindo grant BEGAL 18/00090). JA is funded by grant IJC2018-036074-I, funded by MCIN/AEI/10.13039/501100011033. DMP and FGL are also funded by grants CGL2015-71692 (MINECO/ FEDER) and PID2020-118822GB-I00 (MCIN/AEI/10.13039/501100011033).Peer reviewe

    Large Genomic Imbalances in Brugada Syndrome

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    Purpose Brugada syndrome (BrS) is a form of cardiac arrhythmia which may lead to sudden cardiac death. The recommended genetic testing (direct sequencing of SCN5A) uncovers disease-causing SNVs and/or indels in ~20% of cases. Limited information exists about the frequency of copy number variants (CNVs) in SCN5A in BrS patients, and the role of CNVs in BrS-minor genes is a completely unexplored field. Methods 220 BrS patients with negative genetic results were studied to detect CNVs in SCN5A. 63 cases were also screened for CNVs in BrS-minor genes. Studies were performed by Multiplex ligation-dependent probe amplification or Next-Generation Sequencing (NGS). Results The detection rate for CNVs in SCN5A was 0.45% (1/220). The detected imbalance consisted of a duplication from exon 15 to exon 28, and could potentially explain the BrS phenotype. No CNVs were found in BrS-minor genes. Conclusion CNVs in current BrS-related genes are uncommon among BrS patients. However, as these rearrangements may underlie a portion of cases and they undergo unnoticed by traditional sequencing, an appealing alternative to conventional studies in these patients could be targeted NGS, including in a single experiment the study of SNVs, indels and CNVs in all the known BrS-related genes

    A GIS-supported Multidisciplinary Database for the Management of UNESCO Global Geoparks: the Courel Mountains Geopark (Spain)

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    [Abstract] The management of a UNESCO Global Geopark (UGGp) requires a vast wealth of miscellaneous scientific knowledge that can be successfully organised using a Geographical Information System (GIS). This paper presents a pragmatic GIS database to assist in the suitable governance of the Courel Mountains UGGp (2017) in Northwest Spain. The database is structured in 66 coverages compiled from public sources and previous works or produced through traditional mapping (combining fieldwork and photointerpretation) and GIS tools. The acquired data was later homogenised and validated by a multidisciplinary team and archived in independent coverages. Forty thematic maps illustrate the broad range of cartographic information included in the GIS database. Among them, 25 basic maps provide an overview of the UGGp and 15 new maps focus on crosscutting and technical issues. All maps illustrate the huge potential of GIS to create new resources combining coverages and adapting the legend according to their purpose and audience. The database facilitates the suitable publishing of consistent outputs (e.g., brochures, books, panels, webpages, web serves), as well as the elaboration of technical data to assist the park management. The database furnishes information on the design of education actions, touristic routes, activities and Geopark facilities. The GIS database is also a supportive tool for scientific research and provides the necessary knowledge to conduct geoconservation actions based on land use, geological hazards and the occurrence of natural and cultural heritages. Altogether, the GIS database constitutes a powerful instrument for policy-making, facilitating the identification and evaluation of alternative strategy plans.This work was developed in the framework of the Scientific Program of the Courel Mountains UGGp with the cooperation of tourism agents (A.M. Arza and A. López), roofing slate quarries (Pizarras de Villarbacú, Pizarras de Quiroga) and local people (M. Reinosa, G. Díaz, O. Álvarez). We are deeply grateful to J.R. Martínez Catalán (Universidad de Salamanca), A. Pérez-Alberti and J. Guitián (both from Universidade de Santiago de Compostela), J.R. Gutiérrez-Marco (ICOG, Universidad Complutense de Madrid/CSIC), J. Vegas (IGME-CSIC), L. González-Menéndez (IGME-CSIC), J.M. García Queijeiro (Universidade de Vigo), L. Santos and A. Grandal-D’Anglade (both from Universidade da Coruña) for their assistance supplying information involved in the database. We thank also E. de Boer for proofreading the article. DB is grant holder of Plan Andaluz de Investigación, Desarrollo e Innovación 2021, funded by Junta de Andalucí

    The Courel Mountains UNESCO Global Geopark: An Amazing Geological History Extended Along 600 Million Years

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    [EN] The Courel Mountains UNESCO Global Geopark (2019) stands out in SW of Europe because of its geoheritage, its biodiversity and its cultural heritage, all of it considered of international interest. These aspects shape the local development economic and cultural improvement and development. The geoheritage is the result of three geological cycles since the Proterozoic, involving the Cadomian-Avalonian-Pan-African orogeny, the opening of the Rheic Ocean and the Variscan orogeny, and finally the Permian-Mesozoic continental expansion and the Alpine orogeny. The geological history of Courel Mountains is one of singular rocks, huge recumbent folds, valuable metallic mineralization, and invertebrate fossils preserved within metamorphic rocks. This long history is recorded in an exceptional Variscan basement that we can ravel thanks to the exhumation during the Alpine uplifting, when the present-day Courel Mountains were built.Peer reviewe

    Design of a GIS-database for the management of the Courel Mountains UNESCO Global Geopark (Spain)

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    X Congreso Geológico de España, 5-7 Julio 2021, Vitoria - GasteizSe ha desarrollado una base de datos en un sistema de información geográfica (SIG) para la gestión del Geoparque Mundial de la UNESCO Montañas do Courel (NO de España). El SIG incluye 66 capas de información topográfica, geológica, minera, biológica, arqueológica y etnográfica, que pueden ser combinadas entre sí para elaborar mapas temáticos adaptados a la finalidad y al usuario. Los mapas generados son empleados en actividades de divulgación, en el diseño de cartografías técnicas de apoyo a los gestores del Geoparque, en el desarrollo de estudios científicos y en acciones de geoconservació

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

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    Altres ajuts: Generalitat de Catalunya, Departament de Salut; Generalitat de Catalunya, Departament d'Empresa i Coneixement i CERCA Program; Ministerio de Ciencia e Innovación; Instituto Nacional de Bioinformática; ELIXIR Implementation Studies (CNAG-CRG); Centro de Investigaciones Biomédicas en Red de Enfermedades Raras; Centro de Excelencia Severo Ochoa; European Regional Development Fund (FEDER).Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. The Undiagnosed Rare Disease Program of Catalonia project collated previously inconclusive good quality genomic data (panels, exomes, and genomes) and standardized phenotypic profiles from 323 families (543 individuals) with a neurologic rare disease. The data were reanalyzed systematically to identify relatedness, runs of homozygosity, consanguinity, single-nucleotide variants, insertions and deletions, and copy number variants. Data were shared and collaboratively interpreted within the consortium through a customized Genome-Phenome Analysis Platform, which also enables future data reinterpretation. Reanalysis of existing genomic data provided a diagnosis for 20.7% of the patients, including 1.8% diagnosed after the generation of additional genomic data to identify a second pathogenic heterozygous variant. Diagnostic rate was significantly higher for family-based exome/genome reanalysis compared with singleton panels. Most new diagnoses were attributable to recent gene-disease associations (50.8%), additional or improved bioinformatic analysis (19.7%), and standardized phenotyping data integrated within the Undiagnosed Rare Disease Program of Catalonia Genome-Phenome Analysis Platform functionalities (18%)
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