Interphase Chromosomes of the Human Brain

Molecular neurocytogenetic (neurocytogenomic) studies have shown the human brain to demonstrate somatic genome variability (mosaic aneuploidy, subchromosomal rearrangements). Chromosomal mosaicism and instability rates vary during ontogeny in the human brain: dramatic increase of the rates in the early brain development follows by a significant decrease in the postnatal period. It is highly likely that rates of mosaicism and instability increase in the aging brain. Alternatively, chromosome-specific instability (aneuploidy and interphase chromosome breaks) and increased levels of chromosomal mosaicism confined to the brain are associated with a wide spectrum of neurodevelopmental and neurodegenerative diseases. Neurocytogenetic/neurocytogenomic analyses may provide further insights into genome organization at the chromosomal level in cells of such a high-functioning system as the human brain. Here, we review studies of interphase chromosomes in the human brain. In this instance, the role of molecular neurocytogenetics and neurocytogenomics in current genetics, genomics, and cell biology of the human brain is discussed.