The annotation and function of the Parkinson's and Gaucher disease-linked gene GBA1 has been concealed by its protein-coding pseudogene GBAP1
Emil Karl Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan Brenton, Sonia García-Ruiz, David Zhang, Raquel Garza, Regina Hertfelder Reynolds, James R. Evans, Zhongbo Chen, Melissa Grant‐Peters, Hannah L. Macpherson, Kylie Montgomery, Rhys Dore, Anna I. Wernick, , Mina Ryten
The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.
Science Advances · Jun 26, 2024Peer-reviewedGenetics