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Journal article
Characterisation of the function of a lncRNA containing SINE-VNTR-Alu 67 to regulate the genes at the MAPT locus
Experimental biology and medicine (Maywood, N.J.), Vol.250, 10805
2025
Abstract
Parkinson’s disease (PD) is a complex neurodegenerative disease that involves many interlinking pathways and genetic elements that remain to be fully understood and characterised. Non-coding genetic elements have long been overlooked, however recent advancements in the field have highlighted their importance with an area of interest being transposable elements. SINE-VNTR-Alu (SVA) elements are the youngest and smallest subset of retrotransposons that are only found within hominid species. SVAs have been shown to have strong regulatory impacts within our genome and can affect progression of neurodegenerative disease such as PD. Previous studies identified an SVA, polymorphic for its presence/absence, that was associated with changes in gene expression at the MAPT locus. This particular SVA is located within a long non-coding RNA (lncRNA) and is known as SVA_67. Here, we evaluated the SVA67-lncRNA effects on gene expression within the MAPT locus, a region associated with several neurodegenerative diseases in the SH-SY5Y cell line. The expression of SVA67-lncRNA in the SH-SY5Y cell line was associated with differential expression of several genes at the MAPT locus including MAPT, KANSL1, ARL17A/B, LRRC37A/2, and NSF. This study provides the first analysis of this SVA67-lncRNA and potential evidence for its involvement in complex diseases, such as PD.
Details
- Title
- Characterisation of the function of a lncRNA containing SINE-VNTR-Alu 67 to regulate the genes at the MAPT locus
- Authors/Creators
- Kynen Piacentini - Perron Institute for Neurological and Translational ScienceAlexander Fröhlich - UK Dementia Research InstituteAbigail Pfaff - Perron Institute for Neurological and Translational ScienceSulev Kõks - Perron Institute for Neurological and Translational Science
- Publication Details
- Experimental biology and medicine (Maywood, N.J.), Vol.250, 10805
- Publisher
- Frontiers Media S.A.
- Identifiers
- 991005836163007891
- Copyright
- © 2025 Piacentini, Fröhlich, Pfaff and Kõks.
- Murdoch Affiliation
- Personalised Medicine Centre
- Language
- English
- Resource Type
- Journal article
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