The molecular genetic mechanism of the inverted allele of the human‐specific <i>CHRFAM7A</i> gene

These results suggest genetic epistasis between inverted CHRFAM7A and ULK4 leading to skewing of short and long isoform ratio of ULK4. The long isoform harbors heat repeats that facilitate membrane localization. The regulatory mechanism might be through RNA interference via a hairpin structure involving the 19bp targeting sequence. Improved understanding of this inverted RNAi mechanism will provide context for why the inverted allele is associated with neuropsychiatric disease.