An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson’s Disease Risk and Progression in the PPMI Cohort

• Published in: International journal of molecular sciences Vol. 21; no. 18; p. 6562
• Main Authors: Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 08.09.2020; MDPI
• Subjects: Adult; Age; Aged; Aged, 80 and over; Cohort Studies; Databases, Genetic; Disease; Disease Progression; Family medical history; Female; Genome, Human; Genomes; Germ Cells - metabolism; Humans; Long Interspersed Nucleotide Elements - genetics; Long Interspersed Nucleotide Elements - physiology; Male; Middle Aged; Parkinson Disease - genetics; Parkinson Disease - metabolism; Parkinson's disease; Retroelements - genetics; Risk Factors; RNA polymerase; RNA, Messenger; Tumors; Whole genome sequencing; X chromosomes; retrotransposition competent; retrotransposon; L1; Parkinson’s disease

Long interspersed element-1 (LINE-1/L1s) contributes 17% of the human genome with more than 1 million elements present; however, fewer than 100 of these have evidence for being retrotransposition competent (RC). In addition to those RC-L1s present in the reference genome, there are a small number of...