Title: Mosaic copy number variation in human neurons
Authors: McConnell, Michael J
Lindberg, Michael R
Brennand, Kristen J
Piper, Julia C
Voet, Thierry
Cowing-Zitron, Chris
Shumilina, Svetlana
Lasken, Roger S
Vermeesch, Joris
Hall, Ira M #
Gage, Fred H # ×
Issue Date: Nov-2013
Publisher: American Association for the Advancement of Science
Series Title: Science vol:342 issue:6158 pages:632-637
Article number: 10.1126/science.1243472
Abstract: We used single-cell genomic approaches to map DNA copy number variation (CNV) in neurons obtained from human induced pluripotent stem cell (hiPSC) lines and postmortem human brains. We identified aneuploid neurons, as well as numerous subchromosomal CNVs in euploid neurons. 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. Single-cell sequencing of endogenous human frontal cortex neurons revealed that 13 to 41% of neurons have at least one megabase-scale de novo CNV, that deletions are twice as common as duplications, and that a subset of neurons have highly aberrant genomes marked by multiple alterations. Our results show that mosaic CNV is abundant in human neurons.
ISSN: 0036-8075
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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