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Unraveling effects of the SVA-F retrotransposon on chromatin, transcription, and gene regulation

Institution: Institute of Human Genetics, University of Lübeck and University Hospital Schleswig-Holstein
Applicant: Dr. Jelena Pozojevic
Funding line:
First and Second Applications
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Planned experiments to elucidate the effects of SVA-F retrotransposon on gene expression and chromatin, including CRISPR/Cas9- and PiggyBac-mediated insertions, investigations of gene expression and chromatin accessibility, as well as affinity binding
(© Dr. Jelena Pozojevic, Institut für Humangenetik, Universität zu Lübeck und Universitätsklinikum Schleswig-Holstein)

Transposable elements (TEs) comprise DNA of almost all organisms, and even though they were long considered to be “junk” DNA, their roles in human disease are being increasingly recognized. The present proposal aims to investigate roles of a TEs subclass – SVA retrotransposons – which are present in >2700 copies in the human genome. The planned experiments aim better understanding of molecular processes triggered by SVAs, both on locus-specific and genome-wide level. We want to understand whether there is a general mutational mechanism regardless of the location of SVA insertion, focusing on gene expression, chromatin status, and protein binding. Understanding molecular mechanisms caused by SVA insertions will enable better diagnosis and eventual treatments of the affected individuals.