Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements

Billingsley, Kimberley, Quinn, John ORCID: 0000-0003-3551-7803 and Bubb, Vivien ORCID: 0000-0003-2763-7004 (2019) Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements. Scientific Reports, 9 (1). 4369-.

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Official URL: https://www.nature.com/articles/s41598-019-40869-z

Abstract

Repetitive elements (RE) constitute the majority of the human genome and have a range of functions both structural and regulatory on genomic function and gene expression. RE overexpression has been observed in several neurodegenerative diseases, consistent with the observation of aberrant expression of RE posing a mutagenic threat. Despite reports that associate RE expression with PD no study has comprehensively analysed the role of these elements in the disease. This study presents the first genome-wide analysis of RE expression in PD to date. Analysis of RNA-sequencing data of 12 PD patients and 12 healthy controls identified tissue-specific expression differences and more significantly, differential expression of four satellite elements; two simple satellite III (repName = CATTC_n and _GAATG_n) a high-copy satellite II (HSATII) and a centromeric satellite (ALR_Alpha) in the blood of PD patients. In support of the growing body of recent evidence associating REs with neurodegenerative disease, this study highlights the potential importance of characterization of RE expression in such diseases.

Item Type:	Article
Uncontrolled Keywords:	Skin, Humans, Parkinson Disease, DNA, Satellite, Case-Control Studies, Genomics, Gene Expression Regulation, Repetitive Sequences, Nucleic Acid, Genome, Human
Depositing User:	Symplectic Admin
Date Deposited:	14 Mar 2019 15:15
Last Modified:	19 Jan 2023 00:57
DOI:	10.1038/s41598-019-40869-z
Open Access URL:	https://doi.org/10.1038/s41598-019-40869-z
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3034269