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

التفاصيل البيبلوغرافية
العنوان: Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
المؤلفون: Guelfi, Sebastian, D'Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Noyce, Alastair J., Nicolas, Aaude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., Singleton, Andrew B., Reed, Xylena, Leonard, Hampton L, Blauwendraat, Cornelis, Faghri, Faraz, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Kia, Demis A., Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Ying, Wood, Nicholas W., Lovering, Ruth Caroline, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Tan, Manuela, Morris, Huw, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J., Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria M., Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M., Robak, Laurie, Lubbe, Steven, Mencacci, Niccolò Emanuele, Finkbeiner, Steven, Lungu, Codrin, Scholz, Sonja, Gan-Or, Ziv, Rouleau, Guy A., Krohan, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A., Macias, Daniel, Vargas-González, Laura, Méndez-del-Barrio, Carlota, Periñán, Teresa, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, Mendez-Gonzalez, Manuel, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Mondragon Rezola, Elisabet, Bergareche Yarza, Jesús Alberto, Pagola, Ana Gorostidi, de Munain Arregui, Adolfo Lopez, Ruiz-Martínez, Javier, Cerdan, Debora, Duarte, Jacinto, Clarimón, Jordi, Dols Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga Mora, Javier, Gonzalez-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, Maria, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Gómez-Heredia, Maria José, Perez Errazquin, Francisco, Hoenicka, Janet, Jiménez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Lopez-Sendon, Jose Luis, Martinez Torres, Irene, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka, Ojo, Oluwadamilola, Forabosco, Paola, Walker, Robert, Small, Kerrin, Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael, Ryten, Mina, Universitat Autònoma de Barcelona
سنة النشر: 2020
المجموعة: Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB
مصطلحات موضوعية: Gene regulation, Genetics of the nervous system, RNA sequencing, RNA splicing
الوصف: 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.esTest/.
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: English
تدمد: 20411723
العلاقة: Nature communications; Vol. 11 Núm. 1 (january 2020), p. 1041; https://ddd.uab.cat/record/283724Test; urn:10.1038/s41467-020-14483-x; urn:oai:ddd.uab.cat:283724; urn:scopus_id:85081072099; urn:articleid:20411723v11n1p1041; urn:pmid:32098967; urn:pmc-uid:7042265; urn:pmcid:PMC7042265; urn:oai:pubmedcentral.nih.gov:7042265; urn:oai:egreta.uab.cat:publications/648ea641-e2bb-43cc-983e-7bc35843c64b
الإتاحة: https://ddd.uab.cat/record/283724Test
حقوق: open access ; 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. ; https://creativecommons.org/licenses/by/4.0Test/
رقم الانضمام: edsbas.D2658DC8
قاعدة البيانات: BASE
الوصف
تدمد:20411723