Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/

Las plantas medicinales en el inventario español sobre los conocimientos Tradicionales relativos al patrimonio natural y a la biodiversidad

En las últimas décadas las organizaciones internacionales han puesto de manifiesto la importancia de los conocimientos ecológicos tradicionales para la conservación y el uso sostenible de la diversidad biológica, como se refleja en el Convenio sobre la Diversidad Biológica (CBD 1992). En España, el marco jurídico que recoge las normas y recomendaciones de esta estrategia es la Ley de Patrimonio Natural y Biodiveresidad 42/2007 que establece la creación del Inventario Español de Conocimientos Tradicionales (IECT) relevantes para la conservación y el uso sostenible de la biodiversidad y geodiversidad. Desde hace más de un año un equipo de más de 60 investigadores, incluyendo botánicos, zoólogos, antropólogos, ecólogos y geólogos de más de 20 centros de investigación y universidades del estado español, están trabajando en el IEDT, con el objetivo de recopilar y difundir la información publicada sobre los conocimientos tradicionales relativos a la flora, fauna, geodiversidad y el manejo de los ecosistemas

Sharing Plant Uses with Animals: Plants Used for Feeding and Curing Humans and Animals in the Spanish Inventory of Traditional Knowledge Related to Biodiversity

Trabajo presentado en la 57th Annual Meeting of the Society for Economic Botany (Cultural resilience and resource extraction: preserving plants & people of degraded ecosystems), celebrada en Pine Mountain (USA) del 5 al 9 de junio de 2016.Spain has a very rich and dynamic traditional ecological knowledge system that has suffered severe erosion over the last decades. This knowledge has been deeply influenced by a rich and diverse historical heritage that includes many centuries old documents from ancient cultures, some over 2000 years old. Spanish acute useful flora comprises around 3,000 species, most of them autochthonous. A team of more than 70 scientists from more than 30 universities and other research centres are developing the Spanish Inventory of Traditional Knowledge. The inventory includes a database with information from over180 papers. The review of such papers showed that more than 2,300 plant species are used in human and animal food and medicine: 1,681 in human medicine, 1,295 in animal food, 953 in human food and 709 in veterinary medicine. Nearly 14% of the species (313) are shared in the four categories and a very important amount of species are used both for humans and animals: 35% of the species (800) are employed in animal food and medicine, 31% (710) in human food and medicine, 28% (650) in human and veterinary medicine and 27% (624) in animal and human food. This high percentage of overlap between human and animal uses may indicate that the observation of animal behaviour , specially feeding and selfmedication behaviours, might have given clues to humans on how to use food and medicinal plants[Lo1]. It also reinforces the idea that food and medicine represent a continuum not only for humans, but also for animals.Peer reviewe

Sustainability of traditional ecological knowledge: importance, distribution, endemicity and conservation of Spanish medicinal plants

Trabajo presentado en la 58th Annual Meeting of the Society for Economic Botany (Living in a global world: local knowledge ans sustainability), celebrada en Braganza (Portugal) del 4 al 9 de junio de 2017.-- IECTB authors: L Aceituno, R Acosta, A Alvarez, E Barroso, J Blanco, MA Bonet, L Calvet, E Carrio, R Cavero, U DAmbrosio , L Delgado, J Fajardo, I Fernandez-Ordonez, J Garcia, T Garnatje, JA Gonzalez, R Gonzalez-Tejero, A Gras, E Hernandez-Bermejo, E Laguna, JA Latorre, C. Lopez, MJ Macia, E Marcos, V Martinez, G Menendez, M Molina, R Morales, LM Munoz, C Obon, R Ontillera, M Parada, A Perdomo, I Perez, MP Puchades, V Reyes-Garcia, M Rigat, S Rios, D Rivera, R Rodriguez, O Rodriguez, R Roldan, L San Joaquin, FJ Tardio, JR Vallejo, J Valles, H Velasco and A Verde.More than 17,000 of the plant species of the world have been used as medicines. The Mediterranean basin, and specifically Spain, has a great floristic and ethnobotanical richness, comprising its useful flora around 3,000 plant species. This paper studies medicinal plants traditionally used in Spain in order to analyze the sustainability of their exploitation. Given that sustainability is related to the amount of the resource and its gathering pressure, its availability and cultural importance were analysed based on: the number of papers cited from a selection of over 180 papers, the number of 10x10 km UTM grid cells in which the plants were represented, the number of phytosociological inventories in which the presence of the plant has been registered, and searched on their current conservation status in European, national and regional legislations. The total number of wild or naturalized medicinal species in Spain reaches 1,393, 15% of them being endemic. A positive correlation was found among cultural importance and abundance (ρ=0.48) and among cultural importance and distribution (ρ=0.502), showing that abundant widely distributed species are those more commonly used. Most of the medicinal plants (72%) do not appear on the consulted regulations and do not have any legal protection or known threat and only 11 species are registered in any of the annexes of the European Habitats directive. While this study confirms that people tend to select as medicinal abundant and widely distributed species, many other criteria are used for selecting them.Peer reviewe

Moving beyond neurons : the role of cell type-specific gene regulation in Parkinson's disease heritability

Parkinson's disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. We found that PD heritability attributable to common variation does not enrich in global and regional brain annotations or brain-related cell-type-specific annotations. Likewise, we found no enrichment of PD susceptibility genes in brain-related cell types. In contrast, we demonstrated a significant enrichment of PD heritability in a curated lysosomal gene set highly expressed in astrocytic, microglial, and oligodendrocyte subtypes, and in LoF-intolerant genes, which were found highly expressed in almost all tested cellular subtypes. Our results suggest that PD risk loci do not lie in specific cell types or individual brain regions, but rather in global cellular processes detectable across several cell types