Interphase Chromosomes of the Human Brain: The Biological and Clinical Meaning of Neural Aneuploidy



The human brain is generally assumed to be populated by cells that share identical genomes or diploid chromosome sets. However, interphase molecular cytogenetics has shown variable mosaic aneuploidy to be a new feature of brain cells. Interphase FISH analysis has estimated the amount of aneuploid cells as approximately 10 % (about 100 billion cells) in more than a trillion postmitotic neuronal and glial cells in the normal adult human brain. Paradoxically, aneuploidy appears to feature the mammalian brain despite representing a devastating condition in humans. Furthermore, neural aneuploidy rates vary during ontogeny. Aneuploidy rates are dramatically increased in early brain development, but decrease significantly in the postnatal period. Additionally, acquired aneuploidy affecting the brain is shown to be associated with neurodevelopmental and neurodegenerative disorders (i.e., autism, schizophrenia, ataxia-telangiectasia, Alzheimer’s disease). Furthermore, interphase molecular cytogenetics allows for the analysis of genome organization at the chromosomal level in brain cells, which is, unfortunately, beyond the scope of current neuroscience and genome research. Nonetheless, a number of pilot reports have determined analyzing interphase chromosome spatial organization in neuronal nuclei to be promising for genetics/genomics and cell biology of the human brain.


Rett Syndrome Aneuploid Cell Adult Human Brain Aneuploidy Rate Interphase Chromosome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



 The review is dedicated to the memory of Dr. Ilya V. Soloviev. We gratefully acknowledge the NICHD Brain and Tissue Bank for Developmental Disorders at the University of Maryland, Baltimore, MD, USA, for providing samples of brain tissues. The authors are supported by DLR/BMBF (RUS 2011–2013) and RFBR grant 12-04-00215-а (Russian Federation, 2012–2014). Dr. IY Iourov is supported by the Grant of the President of the Russian Federation MD-4401.2013.7.


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© Springer Science+Business Media, LLC 2013

Authors and Affiliations

  1. 1.Mental Health Research Center, Russian Academy of Medical SciencesMoscowRussia
  2. 2.Institute of Pediatrics and Children Surgery, Ministry of HealthMoscowRussia
  3. 3.Moscow City University of Psychology and EducationMoscowRussia

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