Disrupting upstream translation in mRNAs leads to loss-of function associated with human disease
David S.M. Lee, Joseph Park, Andrew Kromer, Aris Baras, Daniel James Rader, Marylyn DeRiggi Ritchie, Louis R. Ghanem, Yoseph Barash
The paper identifies uORF variants that disrupt upstream translation and are under strong negative selection, linking them to gene-disease associations and loss-of-function in human genes.
Nature Communications · Mar 9, 2021Peer-reviewedGenomics