Topic: protein truncating variants

Schizophrenia (SZ) is a severe and persistent psychiatric disorder influenced by genetic factors. A recent exome-sequencing study of schizophrenia identified 10 genes as having an exome-wide significant excess of rare damaging coding variants. Of these variants, protein truncating variants (PTVs) of the XPO7 gene conferred the highest SZ risk. XPO7 encodes exportin 7, a protein that gates nucleocytoplasmic transport. XPO7 is expressed in neurons, but its role in the brain is completely unknown. To assess the role of XPO7 in neuronal development and function, XPO7 knock-down (KD) was induced in