First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications
Jin‐Huan Lin, Xin‐Ying Tang, Arnaud Boulling, Wen‐Bin Zou, Emmanuelle Masson, Yann Fichou, Loann Raud, Marlène Le Tertre, Shun‐Jiang Deng, Isabelle Berlivet, Chandran Ka, Matthew E. Mort, Matthew Hayden, Raphaël Leman, Claude Houdayer, , Jian‐Min Chen
The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.
Human Mutation · May 27, 2019Peer-reviewedGenetics