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Journal article
Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression
Scientific reports, Vol.14(1), 10932
2024
Abstract
SINE-VNTR-Alu (SVA) retrotransposons are transposable elements which represent a source of genetic variation. We previously demonstrated that the presence/absence of a human-specific SVA, termed SVA_67, correlated with the progression of Parkinson’s disease (PD). In the present study, we demonstrate that SVA_67 acts as expression quantitative trait loci, thereby exhibiting a strong regulatory effect across the genome using whole genome and transcriptomic data from the Parkinson’s progression markers initiative cohort. We further show that SVA_67 is polymorphic for its variable number tandem repeat domain which correlates with both regulatory properties in a luciferase reporter gene assay in vitro and differential expression of multiple genes in vivo. Additionally, this variation’s utility as a biomarker is reflected in a correlation with a number of PD progression markers. These experiments highlight the plethora of transcriptomic and phenotypic changes associated with SVA_67 polymorphism which should be considered when investigating the missing heritability of neurodegenerative diseases.
Details
- Title
- Deciphering the role of a SINE-VNTR-Alu retrotransposon polymorphism as a biomarker of Parkinson’s disease progression
- Authors/Creators
- Alexander Fröhlich - University of LiverpoolAbigail L Pfaff - Perron Institute for Neurological and Translational ScienceBen Middlehurst - University of LiverpoolLauren S Hughes - University of LiverpoolVivien J Bubb - University of LiverpoolJohn P Quinn - University of LiverpoolSulev Koks - Perron Institute for Neurological and Translational Science
- Publication Details
- Scientific reports, Vol.14(1), 10932
- Publisher
- Nature Publishing Group
- Identifiers
- 991005664670007891
- Copyright
- © The Author(s) 2024
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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