Rehen Stevens K, Yung Yun C, McCreight Matthew P, Kaushal Dhruv, Yang Amy H, Almeida Beatriz S V, Kingsbury Marcy A, Cabral Kátia M S, McConnell Michael J, Anliker Brigitte, Fontanoz Marisa, Chun Jerold
Helen L. Dorris Child and Adolescent Neuropsychiatric Disorder Institute, The Scripps Research Institute, La Jolla, California 92037, USA.
J Neurosci. 2005 Mar 2;25(9):2176-80. doi: 10.1523/JNEUROSCI.4560-04.2005.
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 approximately 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.
小鼠大脑包含基因上不同的细胞，这些细胞在染色体数目方面存在差异，表现为非整倍体（Rehen等人，2001年）；然而，其与人类的相关性尚不清楚。在此，我们使用针对常染色体21的双标记荧光原位杂交（21号染色体点探针与21号染色体“涂抹”探针相结合），以及免疫细胞化学和细胞分选技术，提供了人类大脑中染色体增减的证据。21号染色体非整倍体细胞约占人类大脑中估计一万亿个细胞的4%，包括通过神经元特异性核蛋白标记鉴定的非神经元细胞和有丝分裂后神经元。相比之下，人类间期淋巴细胞的21号染色体非整倍体率为0.6%。这些数据共同表明，人类脑细胞（神经元和非神经元细胞）都可能是非整倍体，并且由此产生的基因镶嵌现象是人类中枢神经系统的一个正常特征。
