Nature Communications (Feb 2020)
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
- 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
Affiliations
- Sebastian Guelfi
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Karishma D’Sa
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Juan A. Botía
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Jana Vandrovcova
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Regina H. Reynolds
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- David Zhang
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Daniah Trabzuni
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Leonardo Collado-Torres
- Lieber Institute for Brain Development
- Andrew Thomason
- Goldsmiths, University of London, New Cross
- Pedro Quijada Leyton
- Goldsmiths, University of London, New Cross
- Sarah A. Gagliano Taliun
- Center for Statistical Genetics, University of Michigan
- Mike A. Nalls
- Laboratory of Neurogenetics, National Institute on Aging, US National Institutes of Health
- International Parkinson’s Disease Genomics Consortium (IPDGC)
- UK Brain Expression Consortium (UKBEC)
- Kerrin S. Small
- Department of Twin Research and Genetic Epidemiology, King’s College London
- Colin Smith
- Department of Neuropathology, MRC Sudden Death Brain Bank Project, University of Edinburgh
- Adaikalavan Ramasamy
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- John Hardy
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- Michael E. Weale
- Department of Medical & Molecular Genetics, School of Medical Sciences, King’s College London, Guy’s Hospital
- Mina Ryten
- Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology
- DOI
- https://doi.org/10.1038/s41467-020-14483-x
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
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.
