Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Zhongbo Chen; David Zhang; Regina H. Reynolds; Emil K. Gustavsson; Sonia García-Ruiz; Karishma D’Sa; Aine Fairbrother-Browne; Jana Vandrovcova; International Parkinson’s Disease Genomics Consortium (IPDGC); John Hardy; Henry Houlden; Sarah A. Gagliano Taliun; Juan Botía; Mina Ryten

doi:10.1038/s41467-021-22262-5

Nature Communications (Apr 2021)

Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Zhongbo Chen,
David Zhang,
Regina H. Reynolds,
Emil K. Gustavsson,
Sonia García-Ruiz,
Karishma D’Sa,
Aine Fairbrother-Browne,
Jana Vandrovcova,
International Parkinson’s Disease Genomics Consortium (IPDGC),
John Hardy,
Henry Houlden,
Sarah A. Gagliano Taliun,
Juan Botía,
Mina Ryten

Affiliations

Zhongbo Chen: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
David Zhang: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Regina H. Reynolds: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Emil K. Gustavsson: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Sonia García-Ruiz: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Karishma D’Sa: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Aine Fairbrother-Browne: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Jana Vandrovcova: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
International Parkinson’s Disease Genomics Consortium (IPDGC)
John Hardy: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Henry Houlden: Department of Neuromuscular Disease, Queen Square Institute of Neurology, UCL
Sarah A. Gagliano Taliun: Department of Medicine & Department of Neurosciences, Université de Montréal, Université de Montréal
Juan Botía: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)
Mina Ryten: Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London (UCL)

DOI: https://doi.org/10.1038/s41467-021-22262-5
Journal volume & issue: Vol. 12, no. 1
pp. 1 – 13

Abstract

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Knowledge of genomic features specific to humans may be important for understanding disease. Here the authors demonstrate a potential role for these human-lineage-specific sequences in brain development and neurological disease.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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