Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, Liverpool, UK.
Department of Pathophysiology, University of Tartu, Tartu, Estonia.
Sci Rep. 2019 Mar 13;9(1):4369. doi: 10.1038/s41598-019-40869-z.
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.
重复元件 (RE) 构成了人类基因组的大部分，对基因组功能和基因表达具有多种结构和调节功能。在几种神经退行性疾病中观察到重复元件的过度表达，这与重复元件的异常表达构成诱变威胁的观察结果一致。尽管有报道称重复元件的表达与 PD 有关，但没有研究全面分析这些元件在疾病中的作用。本研究是迄今为止对 PD 中重复元件表达进行的首次全基因组分析。对 12 名 PD 患者和 12 名健康对照者的 RNA-seq 数据进行分析，确定了组织特异性表达差异，更重要的是，在 PD 患者的血液中鉴定到四个卫星元件的差异表达：两个简单卫星 III（repName=CATTC_n 和_GAATG_n）、一个高拷贝卫星 II（HSATII）和一个着丝粒卫星（ALR_Alpha）。支持将重复元件与神经退行性疾病相关联的越来越多的最新证据，本研究强调了在这类疾病中对重复元件表达进行特征描述的重要性。
