Effect of Smchd1 deletion via Nestin-Cre in mouse brain tissue II

Our aim was to assess whether CNS specific Smchd1 deletion after early development in vivo likewise resulted in activation of maternal PWS cluster genes - specifically the small nucleolar RNAs (snoRNAs) and long non-coding RNAs (lncRNAs) in the region, and what effects this deletion may have genome-wide.

We found significant maternal gene activation at imprinted genes across the locus including snoRNAs and importantly activation of a lncRNA responsible for reciprocal imprinting on the paternal allele did not affect the imprinting status of paternally imprinted gene Ube3a. We also observed minimal genome-wide changes.