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The Journal of Neuroscience, March 2, 2005, 25(9):2176-2180; doi:10.1523/JNEUROSCI.4560-04.2005

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Constitutional Aneuploidy in the Normal Human Brain

Stevens K. Rehen, Yun C. Yung, Matthew P. McCreight, Dhruv Kaushal, Amy H. Yang, Beatriz S. V. Almeida, Marcy A. Kingsbury, Kátia M. S. Cabral, Michael J. McConnell, Brigitte Anliker, Marisa Fontanoz, and Jerold Chun

Helen L. Dorris Child and Adolescent Neuropsychiatric Disorder Institute, The Scripps Research Institute, La Jolla, California 92037

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.

Key words: cerebral cortex; chromosome variation; mosaicism; histochemistry; hybridization; trisomy 21

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Received Nov 5, 2004; revised December 21, 2004; accepted January 13, 2005.

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