The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Constitutional Aneuploidy in the Normal Human Brain
Open accessAbstract
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.
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Cites
Genetic instabilities in human cancers
Lengauer, C., Kinzler, K. W., & Vogelstein, B. (1998) · Nature · doi:10.1038/25292 · Cited by 4,168 · cited 2×
“, 2001), including cases in which certain non-neuronal aneuploid cells in the brains of normal patients may, under appropriate conditions, contribute to brain tumorigenesis (Lengauer et al., 1998).”
BackgroundNeuN, a neuronal specific nuclear protein in vertebratesxs
Mullen, R. J., Buck, C. R., & Smith, A. M. (1992) · Development · doi:10.1242/dev.116.1.201 · Cited by 2,351
Pakkenberg, B. (2003) · Experimental Gerontology · doi:10.1016/s0531-5565(02)00151-1 · Cited by 485
Cited by
Cellular senescence in cancer and aging.
Collado, M., Blasco, M. A., & Serrano, M. (2007) · Cell · doi:10.1016/j.cell.2007.07.003 · Cited by 1,708
Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain
Lake, B. B., Ai, R., Kaeser, G. E., Salathia, N. S., Yung, Y. C., Liu, R., Wildberg, A., Gao, D., Fung, H.-L., Chen, S., et al. (2016) · Science · doi:10.1126/science.aaf1204 · Cited by 957
Self-citationTaupin, P. (2007) · Brain Research Reviews · doi:10.1016/j.brainresrev.2006.08.002 · Cited by 645
Somatic mutation, genomic variation, and neurological disease
Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584
Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548
Metadata
- Authors
- Rehen, S. K., Yung, Y. C., McCreight, M. P., Kaushal, D., Yang, A. H., Almeida, B. S. V., Kingsbury, M. A., Cabral, K. M. S., McConnell, M. J., Anliker, B., Fontanoz, M., & Chun, J.
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2005-03-02
- Volume
- 25
- Issue
- 9
- Pages
- 2176-2180
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- OpenAlex
- W2146143136
- Cited by
- 319
- References
- 3
- FWCI
- 5.38
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Rehen, S. K., Yung, Y. C., McCreight, M. P., Kaushal, D., Yang, A. H., Almeida, B. S. V., Kingsbury, M. A., Cabral, K. M. S., McConnell, M. J., Anliker, B., Fontanoz, M., & Chun, J. (2005). Constitutional Aneuploidy in the Normal Human Brain. The Journal of Neuroscience. https://doi.org/10.1523/jneurosci.4560-04.2005
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