Transposable elements that have recently been mobile in the human genome.
Matias I AutioTalal Bin AminArnaud PerrinJen Yi WongRoger S-Y FooShyam PrabhakarPublished in: BMC genomics (2021)
By using a novel statistical test we have defined a catalogue of 20 recently mobile transposable element subfamilies. We illustrate the gene regulatory potential of RMS-derived polymorphic TE insertions, using CRISPR/Cas9 deletion in vitro on a specific candidate, as well as by genome wide analysis of allele-specific expression. Our study presents novel insights into TE mobility and regulatory potential and provides a key resource for human disease genetics and population history studies.