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Author

Laura Steenpass

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Open access Sep 2026

Transcription-driven establishment of DNA methylation at the PWS/AS imprinted region

This study provides the first direct evidence in a human model that transcription across the PWS-SRO is necessary but not sufficient for de novo DNA methylation, and suggests differentiation-dependent cues, potentially resembling aspects of the oocyte environment, are required.

Josephine Haake, Alexander Lederhof, Claudia Pommerenke et al. · 0 citations
Jun 2026

RBMX functional retrocopy safeguards brain development in a species-dependent context.

It is demonstrated that RBMX and RBMXL1 share protein and RNA partners and act redundantly in brain development, with RBMXL1 buffering the impact of RBMX deficiency and establishing RBMXL1 as a functional paralog of RBMX that is likely buffering deleterious variation in a context- and dosage-dependent manner.

P. Tilliole, C. Mattausch, Peggy Tilly et al. · 0 citations

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