Presentation Abstract

Program#/Poster#: 228.08/A29
Presentation Title: Single cell analysis of genetic mosaicism in neuronal genomes
Location: Hall A-C
Presentation time: Sunday, Nov 13, 2011, 4:00 PM - 5:00 PM
Authors: *M. J. MCCONNELL1, K. J. BRENNAND2, T. VOET3, C. COWING-ZITRON2, J. PIPER1, J. VERMEESCH3, F. H. GAGE2;
1Crick-Jacobs Ctr. for Theoretical and Computat. Biol., 2Lab. of Genet., Salk Inst. For Biol. Studies, LA JOLLA, CA; 3Ctr. for Human Genet., KU Leuven, Leuven, Belgium
Abstract: 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.
Disclosures:  M.J. McConnell: None. K.J. Brennand: None. T. Voet: None. C. Cowing-Zitron: None. J. Piper: None. J. Vermeesch: None. F.H. Gage: None.
Keyword(s): STEM CELL
Retrotransposition
Single cell genomics
Support: NIH Grant MH088485
[Authors]. [Abstract Title]. Program No. XXX.XX. 2011 Neuroscience Meeting Planner. Washington, DC: Society for Neuroscience, 2011. Online.

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