While little is known about the function of AC107892, it was previously associated with schizophrenia54 and educational attainment55, and is expressed throughout the substantia nigra (Supplemental Figure 3). There are also several syndromes and disorders associated with structural variation in this region of potentially relevance to neural connectivity; e.g., 18q23 deletion syndrome is characterized by diverse neurological and psychiatric features, including developmental delays, epilepsy, and autism spectrum disorders (ASD). Relatedly, there several structural variations (e.g., deletions) observed in this region among individuals with ASD56 and distal 18q deletion syndrome which is commonly characterized by impaired myelin production, neurological problems, delayed development, learning disabilities, seizures, hyperactivity, mood disorders and features of ASD that impair communication and social interaction. LincRNAs are emerging as key transcriptional and post-translational regulators that have been shown to be important for normal development and in disease pathophysiology57, including in psychiatric58 and substance-abuse disorders59. Recent studies show their involvement in cis-regulation of neighboring genes58 and regulation of gene expression60, with highest expression in brain.
