Article
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.
Nature communications - 27 May 2020
Whiffin Nicola, Karczewski Konrad J, Zhang Xiaolei, Chothani Sonia, Smith Miriam J, Evans D Gareth, Roberts Angharad M, Quaife Nicholas M, Schafer Sebastian, Rackham Owen, Alföldi Jessica, O'Donnell-Luria Anne H, Francioli Laurent C, Cook Stuart A, Barton Paul J R, MacArthur Daniel G, Ware James S
Abstract excerpt
Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negative selection....
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