We published the first transcriptome sequencing study of a common, recurrent genomic disorder, 16p11.2 microdeletion and duplication. This reciprocal copy number variant (CNV) syndrome is among the most common known causes of autism, and confers risk to a spectrum of development and psychiatric disorders. Our study in lymphoblastoid cell lines from human families and cortical tissue from mouse models of the 16p11.2 CNV demonstrates that this syndrome exerts its effects on transcription by directly altering genes within the region, as well as by dysregulating loci genome wide through positional effects and alteration of other networks that have been implicated in autism.
Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014 Jun 5;94(6):870-83.