Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Guelfi, Sebastian (University College London (UCL) Institute of Neurology)
D'Sa, Karishma (Guy's and St Thomas' NHS Foundation Trust (Regne Unit))
Botía, Juan A. (Universidad de Murcia)
Vandrovcova, Jana (University College London (UCL) Institute of Neurology)
Reynolds, Regina H. (University College London (UCL) Institute of Neurology)
Zhang, David (University College London (UCL) Institute of Neurology)
Trabzuni, Daniah (King Faisal Specialist Hospital and Research Centre)
Collado-Torres, Leonardo (Lieber Institute for Brain Development)
Thomason, Andrew (University of London)
Quijada Leyton, Pedro (University of London)
Gagliano Taliun, Sarah A. (University of Michigan)
Nalls, Mike A. (Data Tecnica International)
Noyce, Alastair J. (Wolfson Institute of Preventive Medicine)
Nicolas, Aaude (National Institute on Aging (Estats Units d'Amèrica))
Cookson, Mark R. (National Institute on Aging (Estats Units d'Amèrica))
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica))
Gibbs, J. Raphael (National Institute on Aging (Estats Units d'Amèrica))
Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica))
Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica))
Reed, Xylena (National Institute on Aging (Estats Units d'Amèrica))
Leonard, Hampton L (National Institute on Aging (Estats Units d'Amèrica))
Blauwendraat, Cornelis (Wolfson Institute of Preventive Medicine)
Faghri, Faraz (University of Illinois at Urbana-Champaign)
Bras, Jose (King's College London)
Guerreiro, Rita (University College London)
Tucci, Arianna (University College London)
Kia, Demis A. (University College London)
Houlden, Henry (University College London)
Plun-Favreau, Helene (University College London)
Mok, Kin Ying (University College London)
Wood, Nicholas W. (University College London)
Lovering, Ruth Caroline (University College London)
R'Bibo, Lea (University College London)
Rizig, Mie (University College London)
Chelban, Viorica (UCL Institute of Neurology (Regne Unit))
Tan, Manuela (Singapore Institute for Clinical Sciences)
Morris, Huw (University College London)
Middlehurst, Ben (Institute of Translational Medicine)
Quinn, John (Institute of Translational Medicine)
Billingsley, Kimberley (Institute of Translational Medicine)
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics)
Kinghorn, Kerri J. (University College London)
Lewis, Patrick (University of Reading)
Escott-Price, Valentina (Cardiff University School of Medicine)
Williams, Nigel (MRC Cardiff University School of Medicine)
Foltynie, Thomas (UCL Institute of Neurology (Regne Unit))
Brice, Alexis (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital)
Danjou, Fabrice (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital)
Lesage, Suzanne (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital)
Corvol, Jean-Christophe (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital)
Martinez, Maria M. (Paul Sabatier University)
Giri, Anamika (DZNE. German Center for Neurodegenerative Diseases)
Schulte, Claudia (DZNE. German Center for Neurodegenerative Diseases)
Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases)
Simón-Sánchez, Javier (DZNE. German Center for Neurodegenerative Diseases)
Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases)
Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases)
Rizzu, Patrizia (DZNE. German Center for Neurodegenerative Diseases)
Sharma, Manu (University of Tubingen)
Shulman, Joshua M. (Texas Children's Hospital)
Robak, Laurie (Baylor College of Medicine)
Lubbe, Steven (Northwestern University Feinberg School of Medicine)
Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine)
Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research)
Lungu, Codrin (National Institutes of Health (Bethesda, Estats Units d'Amèrica))
Scholz, Sonja (National Institute of Neurological Disorders and Stroke)
Gan-Or, Ziv (McGill University)
Rouleau, Guy A. (McGill University)
Krohan, Lynne (Leiden University Medical Center)
van Hilten, Jacobus J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Marinus, Johan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Adarmes-Gómez, A.D (Hospital Universitari MútuaTerrassa)
Bernal-Bernal, Inmaculada (Hospital Universitari MútuaTerrassa)
Bonilla-Toribio, Marta (Hospital Universitari MútuaTerrassa)
Buiza-Rueda, Dolores (Hospital Universitari MútuaTerrassa)
Carrillo, Fátima (Hospital Universitari MútuaTerrassa)
Carrión-Claro, M (Hospital Universitari MútuaTerrassa)
Mir, Pablo (Hospital Universitari MútuaTerrassa)
Gómez-Garre, Pilar (Hospital Universitari MútuaTerrassa)
Jesús, Silvia (Hospital Universitari MútuaTerrassa)
Labrador-Espinosa, Miguel A. (Hospital Universitari MútuaTerrassa)
Macias, Daniel (Hospital Universitari MútuaTerrassa)
Vargas-González, Laura (Hospital Universitari MútuaTerrassa)
Méndez-del-Barrio, Carlota (Hospital Universitari MútuaTerrassa)
Periñán, Teresa (Hospital Universitari MútuaTerrassa)
Tejera-Parrado, Cristina (Hospital Universitari MútuaTerrassa)
Diez-Fairen, Monica (Hospital Universitario Central de Asturias)
Aguilar, Miquel (Hospital Universitario Central de Asturias)
Alvarez, Ignacio (Hospital Universitario Central de Asturias)
Boungiorno, María Teresa (Hospital Universitario Central de Asturias)
Carcel, Maria (Hospital Universitario Central de Asturias)
Pastor, Pau (Hospital Universitario Central de Asturias)
Tartari, Juan Pablo (Hospital Universitario Central de Asturias)
Alvarez, Victoria (Hospital Universitario Parque Tecnologico de la Salud)
Mendez-Gonzalez, Manuel (Hospital Universitario Parque Tecnologico de la Salud)
Blazquez, Marta (Hospital Universitario Parque Tecnologico de la Salud)
Garcia, Ciara (Hospital Universitario Parque Tecnologico de la Salud)
Suarez-Sanmartin, Esther (Hospital Universitario Parque Tecnologico de la Salud)
Barrero, Francisco Javier (Biodonostia Osasun Ikerketako Institutura (País Basc))
Mondragon Rezola, Elisabet (Hospital General de Segovia)
Bergareche Yarza, Jesús Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Pagola, Ana Gorostidi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
de Munain Arregui, Adolfo Lopez (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Ruiz-Martínez, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Cerdan, Debora (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Duarte, Jacinto (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria))
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau)
Infante, Jon (Instituto de Investigación Sanitaria de Granada)
Marín, Juan (Hospital Clínic i Provincial de Barcelona)
Kulisevsky, Jaime (Hospital Clínic i Provincial de Barcelona)
Pagonabarraga Mora, Javier (Hospital Clínic i Provincial de Barcelona)
Gonzalez-Aramburu, Isabel (Universidad de Granada)
Sanchez Rodriguez, Antonio (Universidad de Granada)
Sierra, Maria (Universidad de Granada)
Duran, Raquel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Ruz, Clara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Vives, Francisco (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Escamilla Sevilla, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Mínguez-Castellanos, Adolfo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Cámara, Ana (Institut de Recerca Sant Joan de Déu)
Compta, Yaroslau (Institut de Recerca Sant Joan de Déu)
Ezquerra, Mario (Institut de Recerca Sant Joan de Déu)
Marti, Maria Jose (Institut de Recerca Sant Joan de Déu)
Fernández, Manel (Institut de Recerca Sant Joan de Déu)
Muñoz, Esteban (Institut de Recerca Sant Joan de Déu)
Fernández-Santiago, Rubén (Institut de Recerca Sant Joan de Déu)
Tolosa, Eduard (Institut de Recerca Sant Joan de Déu)
Valldeoriola, Francesc (Institut de Recerca Sant Joan de Déu)
García-Ruiz, Pedro (Hospital Universitario Ramón y Cajal (Madrid))
Gómez-Heredia, Maria José (Hospital Universitari i Politècnic La Fe de Valencia)
Perez Errazquin, Francisco (Hospital Universitari i Politècnic La Fe de Valencia)
Hoenicka, Janet (Hospital General de Segovia)
Jiménez-Escrig, Adriano (Hospital General de Segovia)
Martínez-Castrillo, Juan Carlos (Hospital General de Segovia)
Lopez-Sendon, Jose Luis (Hospital General de Segovia)
Martinez Torres, Irene (Hospital Universitario Fundación Alcorcón)
Tabernero, Cesar (Hospital Universitario Fundación Alcorcón)
Vela, Lydia (Hospital Universitario Fundación Alcorcón)
Zimprich, Alexander (Medical University of Vienna)
Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega))
Koks, Sulev (Perron Institute for Neurological and Translational Science)
Taba, Pille (University of Tartu)
Majamaa, Kari (Oulu University Hospital (Finlàndia))
Siitonen, Ari (Oulu University Hospital (Finlàndia))
Okubadejo, Njideka (University of Lago)
Ojo, Oluwadamilola (University of Lago)
Forabosco, Paola (Cittadella Universitaria di Cagliari)
Walker, Robert (University of Edinburgh)
Small, Kerrin (King's College London)
Smith, Colin (University of Edinburgh)
Ramasamy, Adaikalavan (Brenner Centre for Molecular Medicine)
Hardy, John (University College London (UCL) Institute of Neurology)
Weale, Michael (Genomics plc)
Ryten, Mina (University College London (UCL) Institute of Neurology)
Universitat Autònoma de Barcelona

Data:	2020
Resum:	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/.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Gene regulation ; Genetics of the nervous system ; RNA sequencing ; RNA splicing
Publicat a:	Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 1041, ISSN 2041-1723

DOI: 10.1038/s41467-020-14483-x
PMID: 32098967

16 p, 1.8 MB

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