Disrupting upstream translation in mRNAs is associated with human disease

David S. M. Lee; Joseph Park; Andrew Kromer; Aris Baras; Daniel J. Rader; Marylyn D. Ritchie; Louis R. Ghanem; Yoseph Barash

doi:10.1038/s41467-021-21812-1

Nature Communications (Mar 2021)

Disrupting upstream translation in mRNAs is associated with human disease

David S. M. Lee,
Joseph Park,
Andrew Kromer,
Aris Baras,
Daniel J. Rader,
Marylyn D. Ritchie,
Louis R. Ghanem,
Yoseph Barash

Affiliations

David S. M. Lee: Department of Genetics, Perelman School of Medicine, University of Pennsylvania
Joseph Park: Department of Genetics, Perelman School of Medicine, University of Pennsylvania
Andrew Kromer: Department of Genetics, Perelman School of Medicine, University of Pennsylvania
Aris Baras: Regeneron Genetics Center, Regeneron Pharmaceuticals
Daniel J. Rader: Department of Genetics, Perelman School of Medicine, University of Pennsylvania
Marylyn D. Ritchie: Department of Genetics, Perelman School of Medicine, University of Pennsylvania
Louis R. Ghanem: Division of Gastroenterology, Hepatology and Nutrition, The Children’s Hospital of Philadelphia
Yoseph Barash: Department of Genetics, Perelman School of Medicine, University of Pennsylvania

DOI: https://doi.org/10.1038/s41467-021-21812-1
Journal volume & issue: Vol. 12, no. 1
pp. 1 – 14

Abstract

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The significance of translated upstream open reading frames is not well known. Here, the authors investigate genetic variants in these regions, finding that they are under high evolutionary constraint and may contribute to 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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