Prior to this study, only 1 ZNF804A transcript had been reported in human brain, although a rare isoform with a putative extra exon was identified in lymphoblasts of some individuals.33 Using RNAseq, a powerful technology for identifying novel splice variants,34,35 and confirming by 5′ RACE and end-to end PCR, we discovered the truncated isoform ZNF804AE3E4, which lacks exons 1 and 2 and has a 5′ extension of exon 3. This transcript was abundant and remains in frame, suggesting that it represents an alternative proteincoding transcript of potential functional significance. Both mRNAs were more highly expressed in fetal brain but continue to be expressed throughout life, relative to endogenous control gene levels.
