CORDIS Project
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The project aims to understand the role of Long Interspersed Element 1 (LINE-1) retrotransposons in human diseases, particularly DiGeorge Syndrome. By using induced pluripotent stem cells, the research will investigate how LINE-1 activity affects genome integrity and disease pathogenesis.
Long INterspersed Element 1 (LINE-1s or L1s) is a highly abundant retrotransposon comprising 17% of the human genome.
Most L1s are retrotransposition defective, but there are approximately 100 full-length active L1s (RC-L1s) in an average human genome.
The activity of RC-L1s impacts the human genome in a myriad of ways, and several human diseases have been caused by the activity of L1s.The Drosha-DGCR8 complex (microprocessor) has a well-characterized role in microRNA (miRNA) biogenesis. DGCR8 c…
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