Restriction Enzyme Based Enriched L1Hs sequencing (REBELseq)
| Autor: | Esin C. Namoglu, Benjamin C. Reiner, Dávila Perea E, Rachel N Levinson, Glenn A. Doyle, Deborah C Mash, Richard C. Crist, Alicia Pigeon, Cynthia Shannon Weickert, Wade H. Berrettini, Gustavo Turecki, Andrew E. Weller, Gabriella Arauco-Shapiro |
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| Rok vydání: | 2019 |
| Předmět: |
Genetics
0303 health sciences Subfamily Postmortem brain 030302 biochemistry & molecular biology Retrotransposon Biology Mobile DNA Genome 03 medical and health sciences Restriction enzyme chemistry.chemical_compound symbols.namesake chemistry Mendelian inheritance symbols DNA 030304 developmental biology |
| DOI: | 10.1101/710095 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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