Isoform-specific regulation of SMARCAD1 dosage in ectodermal homeostasis and dysplasia

M. Seibert Lea Kursawe Manuel Lang Emily N. Pöschel Falk K. Thiemig Paul Kim Lea Gutenkunst A. Schlundt R. Tikkanen J. E. Mermoud

Aug 2026 · bioRxiv · 0 citations

Biology

TL;DR

It is shown that independent patient-derived mutations impair splicing of SMARCAD1-s, the skin-specific short isoform of the ATP-dependent chromatin remodeller SMARCAD1, resulting in intron retention, providing evidence for a threshold-dependent haploinsufficiency model of disease.

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