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

Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information.

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Détails bibliographiques
Auteurs principaux:	Sebastian Guelfi, Karishma D’Sa, Juan A. Botía, Jana Vandrovcova, Regina H. Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado-Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Kerrin S. Small, Colin Smith, Adaikalavan Ramasamy, John Hardy, Michael E. Weale, Mina Ryten
Format:	article
Langue:	EN
Publié:	Nature Portfolio 2020
Sujets:	Science Q
Accès en ligne:	https://doaj.org/article/d83bf92ed8ef48c8b17db5f5eae7d0d7
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

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