Constitutional aneuploidy in the normal human brain

SK Rehen, YC Yung, MP McCreight… - Journal of …, 2005 - Soc Neuroscience
SK Rehen, YC Yung, MP McCreight, D Kaushal, AH Yang, BSV Almeida, MA Kingsbury
Journal of Neuroscience, 2005Soc Neuroscience
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 …
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.
Soc Neuroscience