Ofelia Karlsson

TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.

This study shows that loss of H3K9me3 in human neural progenitor cells activates L1 retrotransposons by reducing CpG methylation at their promoters.

This study identifies a chimpanzee-specific retroviral insertion that influences gene regulation and brain development, highlighting its role in human-chimpanzee brain divergence.

This study shows MORC2 regulates CpG methylation of active LINE-1 retrotransposons during human neurodevelopment, similar to the piRNA pathway in the germline.

The paper shows that DNA methylation and the HUSH-MORC2 complex independently regulate repeat elements in human neural progenitor cells, with MORC2 binding increasing in demethylated regions.

This study shows L1 retrotransposons contribute to human brain transcriptome complexity and functional diversification through cell-type specific transcripts and regulatory RNAs.

The paper shows that ZNF91 creates mini-heterochromatin domains that limit the regulatory impact of SVA transposons in human neural progenitor cells, contributing to XDP pathology.