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 man...

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Authors:	Guelfi S.; D’Sa K.; Botía J.A.; Vandrovcova J.; Reynolds R.H.; Zhang D.; Trabzuni D.; Collado-Torres L.; Thomason A.; Quijada Leyton P.; Gagliano Taliun S.A.; Nalls M.A.; Noyce A.J.; Nicolas A.; Cookson M.R.; Bandres-Ciga S.; Gibbs J.R.; Hernandez D.G.; Singleton A.B.; Reed X.; Leonard H.; Blauwendraat C.; Faghri F.; Bras J.; Guerreiro R.; Tucci A.; Kia D.A.; Houlden H.; Plun-Favreau H.; Mok K.Y.; Wood N.W.; Lovering R.; R’Bibo L.; Rizig M.; Chelban V.; Tan M.; Morris H.R.; Middlehurst B.; Quinn J.; Billingsley K.; Holmans P.; Kinghorn K.J.; Lewis P.; Escott-Price V.; Williams N.; Foltynie T.; Brice A.; Danjou F.; Lesage S.; Corvol J.-C.; Martinez M.; Giri A.; Schulte C.; Brockmann K.; Simón-Sánchez J.; Heutink P.; Gasser T.; Rizzu P.; Sharma M.; Shulman J.M.; Robak L.; Lubbe S.; Mencacci N.E.; Finkbeiner S.; Lungu C.; Scholz S.W.; Gan-Or Z.; Rouleau G.A.; Krohan L.; van Hilten J.J.; Marinus J.; Adarmes-Gómez A.D.; Bernal-Bernal I.; Bonilla-Toribio M.; Buiza-Rueda D.; Carrillo F.; Carrión-Claro M.; Mir P.; Gómez-Garre P.; Jesús S.; Labrador-Espinosa M.A.; Macias D.; Vargas-González L.; Méndez-del-Barrio C.; Periñán-Tocino T.; Tejera-Parrado C.; Diez-Fairen M.; Aguilar M.; Alvarez I.; Boungiorno M.T.; Carcel M.; Pastor P.; Tartari J.P.; Alvarez V.; González M.M.; Blazquez M.; Garcia C.; Suarez-Sanmartin E.; Barrero F.J.; Rezola E.M.; Yarza J.A.B.; Pagola A.G.; Arregui A.L.M.; Ruiz-Martínez J.; Cerdan D.; Duarte J.; Clarimón J.; Dols-Icardo O.; Infante J.; Marín J.; Kulisevsky J.; Pagonabarraga J.; Gonzalez-Aramburu I.; Rodriguez A.S.; Sierra M.; Duran R.; Ruz C.; Vives F.; Escamilla-Sevilla F.; Mínguez A.; Cámara A.; Compta Y.; Ezquerra M.; Marti M.J.; Fernández M.; Muñoz E.; Fernández-Santiago R.; Tolosa E.; Valldeoriola F.; García-Ruiz P.; Heredia M.J.G.; Errazquin F.P.; Hoenicka J.; Jimenez-Escrig A.; Martínez-Castrillo J.C.; Lopez-Sendon J.L.; Torres I.M.; Tabernero C.; Vela L.; Zimprich A.; Pihlstrom L.; Koks S.; Taba P.; Majamaa K.; Siitonen A.; Okubadejo N.U.; Ojo O.O.; Forabosco P.; Walker R.; Small K.S.; Smith C.; Ramasamy A.; Hardy J.; Weale M.E.; Ryten M.
Format:	Article
Status:	Published version
Publication date:	2020
Country:	España
Institution:	Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Repository:	r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
OAI Identifier:	oai:iibsantpau.fundanetsuite.com:p10265
Online Access:	https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10265 https://www.scopus.com/inward/record.uri?eid=2-s2.0-85081072099&doi=10.1038%2fs41467-020-14483-x&partnerID=40&md5=91080e6da2768777aaf4fb9617aec66c
Access Level:	Open access
Keyword:	brain cell disease incidence gene expression genetic analysis medicine nervous system disorder physiological response RNA allele Article basal ganglion cohort analysis expression quantitative trait locus genetic regulation genome-wide association study genotype human human cell human tissue mental disease phenotype putamen RNA sequencing RNA splicing substantia nigra transcriptomics gene expression regulation genetics nerve cell neurologic disease Parkinson disease physiology quantitative trait locus reproducibility schizophrenia single nucleotide polymorphism transcriptome Alleles Gene Expression Regulation Genome-Wide Association Study Humans Nervous System Diseases Neurons Parkinson Disease Polymorphism, Single Nucleotide Putamen Quantitative Trait Loci Reproducibility of Results RNA Splicing Schizophrenia Substantia Nigra Transcriptome