As individuals grow older, human neurons appear to diversify (e.g. aneuploid neurons or subchromosomal CNVs in euploid neurons). McConnell et al recently published in Science that mosaic copy number variation (CNV) is abundant in human neurons.
McConnell et al used single-cell genomic approaches to map DNA in neurons obtained from human induced pluripotent stem cell (hiPSC) lines and postmortem human brains. Up to 41% of neurons taken from postmortem human frontal cortex tissue had at least one megabase-scale de novo CNV (with deletions twice as common as duplications). Neurotypic hiPSC-derived neurons had larger CNVs than fibroblasts, and several large deletions were found in hiPSC-derived neurons but not in matched neural progenitor cells.
Mosaic copy number variation in human neurons. McConnell et al. Science. 2013 Nov1; 342(6158):632-7. PMID: 24179226
Posted by Yannis Trakadis, MD