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Constitutional aneuploidy in the normal human brain

Academic Article
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Overview

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, Jerold

publication date

  • March 2005

journal

  • Journal of Neuroscience  Journal

abstract

  • 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.

subject areas

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aneuploidy
  • Cell Count
  • Cerebral Cortex
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21
  • Female
  • Flow Cytometry
  • Hippocampus
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Lymphocytes
  • Male
  • Middle Aged
  • Mosaicism
  • Neuroglia
  • Neurons
  • Phosphopyruvate Hydratase
  • Postmortem Changes
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Research

keywords

  • cerebral cortex
  • chromosome variation
  • histochemistry
  • hybridization
  • mosaicism
  • trisomy 21
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Identity

International Standard Serial Number (ISSN)

  • 0270-6474

Digital Object Identifier (DOI)

  • 10.1523/jneurosci.4560-04.2005

PubMed ID

  • 15745943
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Additional Document Info

start page

  • 2176

end page

  • 2180

volume

  • 25

issue

  • 9

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