PT  - JOURNAL ARTICLE
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
TI  - Constitutional Aneuploidy in the Normal Human Brain
AID  - 10.1523/JNEUROSCI.4560-04.2005
DP  - 2005 Mar 02
TA  - The Journal of Neuroscience
PG  - 2176--2180
VI  - 25
IP  - 9
4099  - http://www.jneurosci.org/content/25/9/2176.short
4100  - http://www.jneurosci.org/content/25/9/2176.full
SO  - J. Neurosci.2005 Mar 02; 25
AB  - 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.