Analysis of repetitive element expression in the blood and skin of patients with Parkinson’s disease identifies differential expression of satellite elements
Date
2019-03-13
Journal Title
Journal ISSN
Volume Title
Publisher
Nature
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 analyzed the role of these elements in the disease. This study presents the
frst 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