Aneuploid Neurons Are Functionally Active and Integrated into Brain Circuitry

The existence of eneuploid cells within the mammalian brain has suggested the influence of genetic mosaicism on normal neural circuitry. However, aneuploid cells might instead be glia, nonneural, or dying cells, which are irrelevant to direct neuronal signaling. Combining retrograde labeling with FISH for chromosome-specific loci, distantly labeled aneuploid neurons were observed in expected anatomical projection areas. Coincident labeling for immediate early gene expression indicated that these aneuploid neurons were functionally active. These results demonstrate that functioning neurons with aneuploid genomes form genetically mosaic neural circuitries as part of the normal organization of the mammalian brain.