The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i>.

ABSTRACT: Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson's disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to GBAP1. Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both GBA1 and GBAP1. We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both GBA1 and GBAP1. These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function-yet accounting for

SUBMITTER: Gustavsson EK 

PROVIDER: S-EPMC11204300 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature