TY - JOUR T1 - Constitutional Aneuploidy in the Normal Human Brain JF - The Journal of Neuroscience JO - J. Neurosci. SP - 2176 LP - 2180 DO - 10.1523/JNEUROSCI.4560-04.2005 VL - 25 IS - 9 AU - Stevens K. Rehen AU - Yun C. Yung AU - Matthew P. McCreight AU - Dhruv Kaushal AU - Amy H. Yang AU - Beatriz S. V. Almeida AU - Marcy A. Kingsbury AU - Kátia M. S. Cabral AU - Michael J. McConnell AU - Brigitte Anliker AU - Marisa Fontanoz AU - Jerold Chun Y1 - 2005/03/02 UR - http://www.jneurosci.org/content/25/9/2176.abstract N2 - The mouse brain contains genetically distinct cells that differ with respect to chromosome number manifested as aneuploidy (Rehen et al., 2001); however, the relevance to humans is not known. Here, using double-label fluorescence in situ hybridization for the autosome chromosome 21 (chromosome 21 point probes combined with chromosome 21 “paint” probes), along with immunocytochemistry and cell sorting, we present evidence for chromosome gain and loss in the human brain. Chromosome 21 aneuploid cells constitute ∼4% of the estimated one trillion cells in the human brain and include non-neuronal cells and postmitotic neurons identified by the neuronspecific nuclear protein marker. In comparison, human interphase lymphocytes present chromosome 21 aneuploidy rates of 0.6%. Together, these data demonstrate that human brain cells (both neurons and non-neuronal cells) can be aneuploid and that the resulting genetic mosaicism is a normal feature of the human CNS. ER -