title: Aneuploidy in the normal and diseased brain.
abstract: The brain is remarkable for its complex organization and functions, which have been historically assumed to arise from cells with identical genomes. However, recent studies have shown that the brain is in fact a complex genetic mosaic of aneuploid and euploid cells. The precise function of neural aneuploidy and mosaicism are currently being examined on multiple fronts that include contributions to cellular diversity, cellular signaling and diseases of the central nervous system (CNS). Constitutive aneuploidy in genetic diseases has proven roles in brain dysfunction, as observed in Down syndrome (trisomy 21) and mosaic variegated aneuploidy. The existence of aneuploid cells within normal individuals raises the possibility that these cells might have distinct functions in the normal and diseased brain, the latter contributing to sporadic CNS disorders including cancer. Here we review what is known about neural aneuploidy, and offer speculations on its role in diseases of the brain.
authors.affiliation: Department of Molecular Biology, Helen L. Dorris Institute for the Study of Neurological and Psychiatric Disorders of Children and Adolescents, The Scripps Research Institute, La Jolla, California 92037, USA. kingsbu@scripps.edu
authors.forename: M A
authors.initials: MA
authors.lastname: Kingsbury
authors.forename: Y C
authors.initials: YC
authors.lastname: Yung
authors.forename: S E
authors.initials: SE
authors.lastname: Peterson
authors.forename: J W
authors.initials: JW
authors.lastname: Westra
authors.forename: J
authors.initials: J
authors.lastname: Chun
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics; D000782:Aneuploidy; D000818:Animals; D001260:Ataxia Telangiectasia / Q000235:genetics; D001921:Brain / Q000648:ultrastructure*; D001927:Brain Diseases / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics