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Search: onr:"swepub:oai:lup.lub.lu.se:1bd86ba8-32fe-42f2-bfc1-db96a69ef7ac" > The annotation of G...

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The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1

Gustavsson, Emil K. (author)
University College London
Sethi, Siddharth (author)
Astex Pharmaceuticals
Gao, Yujing (author)
Astex Pharmaceuticals
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Brenton, Jonathan W. (author)
University College London
García-Ruiz, Sonia (author)
University College London
Zhang, David (author)
University College London
Garza, Raquel (author)
Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
Reynolds, Regina H. (author)
University College London
Evans, James R. (author)
University College London
Chen, Zhongbo (author)
University College London
Grant-Peters, Melissa (author)
University College London
Macpherson, Hannah (author)
Montgomery, Kylie (author)
Dore, Rhys (author)
Wernick, Anna i. (author)
Arber, Charles (author)
Wray, Selina (author)
Gandhi, Sonia (author)
Esselborn, Julian (author)
Blauwendraat, Cornelis (author)
Douse, Christopher H. (author)
Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Epigenetik och kromatindynamik,Forskargrupper vid Lunds universitet,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Epigenetics and Chromatin Dynamics,Lund University Research Groups
Adami, Anita (author)
Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
Atacho, Diahann A. M. (author)
Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,Molecular Neurogenetics,Lund University Research Groups
Kouli, Antonina (author)
Quaegebeur, Annelies (author)
Barker, Roger A. (author)
University of Cambridge
Englund, Elisabet (author)
Lund University,Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Patologi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Pathology, Lund,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
Platt, Frances (author)
Jakobsson, Johan (author)
Lund University,Lunds universitet,Molekylär neurogenetik,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Molecular Neurogenetics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Aligning Science Across Parkinson's (ASAP) Collaborative Research Network
Wood, Nicholas W. (author)
Houlden, Henry (author)
Saini, Harpreet (author)
Bento, Carla F. (author)
Hardy, John (author)
Ryten, Mina (author)
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 (creator_code:org_t)
2024
2024
English.
In: Science Advances. - 2375-2548. ; 10:26, s. 1-20
Related links:
http://dx.doi.org/10... (free)
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https://lup.lub.lu.s...
https://doi.org/10.1...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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 almost a third of transcription. Analyzing brain-specific cell types using long-read and single-nucleus RNA sequencing revealed region-specific variations in transcript expression. Overall, these findings suggest nonlysosomal roles for GBA1 and GBAP1 with implications for our understanding of the role of GBA1 in health and disease.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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