RT Journal Article
SR Electronic
T1 Constitutional Aneuploidy in the Normal Human Brain
JF The Journal of Neuroscience
JO J. Neurosci.
FD Society for Neuroscience
SP 2176
OP 2180
DO 10.1523/JNEUROSCI.4560-04.2005
VO 25
IS 9
A1 Stevens K. Rehen
A1 Yun C. Yung
A1 Matthew P. McCreight
A1 Dhruv Kaushal
A1 Amy H. Yang
A1 Beatriz S. V. Almeida
A1 Marcy A. Kingsbury
A1 Kátia M. S. Cabral
A1 Michael J. McConnell
A1 Brigitte Anliker
A1 Marisa Fontanoz
A1 Jerold Chun
YR 2005
UL http://www.jneurosci.org/content/25/9/2176.abstract
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.