dc.creator | Guelfi, Sebastian | es |
dc.creator | D’Sa, Karishma | es |
dc.creator | Botía, Juan A. | es |
dc.creator | Vandrovcova, Jana | es |
dc.creator | Reynolds, Regina H. | es |
dc.creator | Zhang, David | es |
dc.creator | Mir Rivera, Pablo | es |
dc.creator | Labrador-Espinosa, Miguel Á. | es |
dc.creator | Periñán Tocino, María Teresa | es |
dc.date.accessioned | 2023-03-31T12:10:43Z | |
dc.date.available | 2023-03-31T12:10:43Z | |
dc.date.issued | 2020-02-25 | |
dc.identifier.citation | Guelfi, S., D’Sa, K., Botía, J.A., Vandrovcova, J., Reynolds, R.H., Zhang, D.,...,Periñán Tocino, M.T. (2020). Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Nature Communications, 11 (1). https://doi.org/10.1038/s41467-020-14483-x. | |
dc.identifier.issn | 2041-1723 | es |
dc.identifier.uri | https://hdl.handle.net/11441/143835 | |
dc.description.abstract | Genome-wide association studies have generated an increasing number of common genetic
variants associated with neurological and psychiatric disease risk. An improved under-
standing 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, inter-
rogating 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 tran-
scriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of
regulatory data is accessible through our web server, http://braineacv2.inf.um.es/. | es |
dc.format | application/pdf | es |
dc.format.extent | 16 p. | es |
dc.language.iso | eng | es |
dc.publisher | Nature publishing group | es |
dc.relation.ispartof | Nature Communications, 11 (1). | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.title | Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.projectID | ARUK-PhD2014-16 | es |
dc.relation.projectID | MR/T04604X/1 | es |
dc.relation.projectID | UKDRI-3003 | es |
dc.relation.projectID | MR/N026004/1 | es |
dc.relation.projectID | MR/L023784/2 | es |
dc.relation.projectID | MR/K01417X/1 | es |
dc.relation.projectID | UKDRI-1009 | es |
dc.relation.projectID | MR/S006753/1 | es |
dc.relation.publisherversion | https://www.nature.com/articles/s41467-020-14483-x | es |
dc.identifier.doi | 10.1038/s41467-020-14483-x | es |
dc.journaltitle | Nature Communications | es |
dc.publication.volumen | 11 | es |
dc.publication.issue | 1 | es |
dc.contributor.funder | Alzheimer's Research UK | es |
dc.contributor.funder | Leonard Wolfson Doctoral Training Fellowship in Neurodegeneration | es |
dc.contributor.funder | MRC | es |
dc.contributor.funder | UK Medical Research Council (MRC) | es |
dc.contributor.funder | MR/N008324/1 | es |