Bioinformatic analysis of the source of the mammalian conservation around rs1344706 suggests it may be due to the presence of transcription factor binding sites. The alleles of rs1344706 result in differential prediction of the presence of binding sites for two brain-expressed transcription factors. The Myt1L zinc finger protein is expressed in neural progenitors along with the related family member Myt1 (which is known to modulate proliferation and terminal differentiation of oligodendrocyte progenitors54.) Of note, the MYT1L gene was included in a copy number variant observed in an affected individual in a recent study of structural variation in schizophrenia. The POU3F1/Oct-6 POU-domain transcription factor is involved in oligodendrocyte differentiation55 and the transition of pro-myelinating to myelinating Schwann cells60, and is also normally expressed in adult cortex and hippocampus61. Those transcription factors predicted to bind to the C allele of rs1344706 are widely expressed and not brain-specific (Homez) or involved primarily in the development of the inner ear, and so seem potentially less meaningful in this context.
