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The annotation of has been concealed by its protein-coding pseudogene

Sci Adv. 2024-06; 
Emil K Gustavsson, Siddharth Sethi, Yujing Gao, Jonathan W Brenton, Sonia García-Ruiz, David Zhang, Raquel Garza, Regina H Reynolds, James R Evans, Zhongbo Chen, Melissa Grant-Peters, Hannah Macpherson, Kylie Montgomery, Rhys Dore, Anna I Wernick, Charles Arber, Selina Wray, Sonia Gandhi, Julian Esselborn, Cornelis Blauwendraat, Christopher H Douse, Anita Adami, Diahann A M Atacho, Antonina Kouli, Annelies Quaegebeur, Roger A Barker, Elisabet Englund, Frances Platt, Johan Jakobsson, Nicholas W Wood, Henry Houlden, Harpreet Saini, Carla F Bento, John Hardy, Mina Ryten
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Proteins, Expression, Isolation and Analysis … protein isoforms of both genes were predicted to have highly similar tertiary structures at the C terminus, we predicted that all protein … GenSmart design tool and acquired from GenScript. … Get A Quote

摘要

Mutations in 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, . We show that >50% of short RNA-sequencing reads mapping to also map to . Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both and . We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both and . These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function-yet accounting for almost a th... More

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