Single cell analysis of genetic mosaicism in neuronal genomes
Sunday, Nov 13, 2011, 4:00 PM - 5:00 PM
*M. J. MCCONNELL
, K. J. BRENNAND
, T. VOET
, C. COWING-ZITRON
, J. PIPER
, J. VERMEESCH
, F. H. GAGE
Crick-Jacobs Ctr. for Theoretical and Computat. Biol.,
Lab. of Genet., Salk Inst. For Biol. Studies, LA JOLLA, CA;
Ctr. for Human Genet., KU Leuven, Leuven, Belgium
Neuron-to-neuron genetic mosaicism in human brains is brought about, in part, by retrotransposition of endogenous L1 mobile elements. However, the diversity and prevalence of unique genomes in the brain is unknown. Moreover, the relationship between retrotransposition and other genomic changes (e.g. aneuploidy, regions of homozygosity) is unexplored; limited by access to human neurons and the necessity of single genome analysis. We circumvent these limitations by using human induced pluripotent stem cell (hiPSC)-derived neurons. Leveraging the clonality inherent in hiPSC derivation, we amplified single hiPSC-derived neuronal genomes, and then employed qPCR and microarray approaches to measure copy number variation and L1 mobility in single human neurons. Most hiPSC-derived neurons analyzed here had unique genomes.
Single cell genomics
NIH Grant MH088485
[Authors]. [Abstract Title]. Program No. XXX.XX. 2011 Neuroscience Meeting Planner. Washington, DC: Society for Neuroscience, 2011. Online.
2011 Copyright by the Society for Neuroscience all rights reserved. Permission to republish any abstract or part of any abstract in any form must be obtained in writing by SfN office prior to publication.
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