RT Journal Article
SR Electronic
T1 Restriction Enzyme Based Enriched L1Hs sequencing (REBELseq)
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 710095
DO 10.1101/710095
A1 Benjamin C. Reiner
A1 Glenn A. Doyle
A1 Andrew E. Weller
A1 Rachel N. Levinson
A1 Esin Namoglu
A1 Alicia Pigeon
A1 Gabriella Arauco-Shapiro
A1 Emilie Dávila Perea
A1 Cyndi Shannon Weickert
A1 Gustavo Turecki
A1 Deborah C. Mash
A1 Richard C. Crist
A1 Wade H. Berrettini
YR 2019
UL http://biorxiv.org/content/early/2019/07/20/710095.abstract
AB Long interspersed element-1 retrotransposons (LINE-1 or L1) are ~6 kb mobile DNA elements implicated in the origins of many Mendelian and complex diseases. The actively retrotransposing L1s are mostly limited to the L1 human specific Ta subfamily. In this manuscript, we present REBELseq as a method for the construction of differentially amplified next-generation sequencing libraries and bioinformatic identification of Ta subfamily long interspersed element-1 human specific elements. REBELseq was performed on DNA isolated from NeuN+ neuronal nuclei from postmortem brain samples of 177 individuals and empirically-driven bioinformatic and experimental cutoffs were established. REBELseq reliably identified both known and novel Ta subfamily L1 insertions distributed throughout the genome. Differences in the proportion of individuals possessing a given reference or non-reference retrotransposon insertion were identified. We conclude that REBELseq is an unbiased, whole genome approach to the amplification and detection of Ta subfamily L1 retrotransposons.