Mosaic Copy Number Variation in Human Neurons

Author:

McConnell Michael J.12345,Lindberg Michael R.3,Brennand Kristen J.1,Piper Julia C.12,Voet Thierry67,Cowing-Zitron Chris1,Shumilina Svetlana3,Lasken Roger S.89,Vermeesch Joris R.6,Hall Ira M.35,Gage Fred H.1

Affiliation:

1. Laboratory of Genetics, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.

2. Crick-Jacobs Center for Theoretical and Computational Biology, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.

3. Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.

4. Center for Brain Immunology and Glia, University of Virginia, Charlottesville, VA 22908, USA.

5. Center for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.

6. Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.

7. Single-Cell Genomics Centre, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.

8. J. Craig Venter Institute, San Diego, CA 92121, USA.

9. Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, La Jolla, CA 92093, USA.

Abstract

Not All Neurons Are Alike As life proceeds, many cells acquire individualized mutations. In the immune system, genome rearrangements generate useful antibody diversity. McConnell et al. (p. 632 ; see the Perspective by Macosko and McCarroll ) now show that human neurons also diversify. Neurons taken from postmortem human frontal cortex tissue and neurons derived from induced pluripotent stem cell differentiation in vitro showed surprising diversity in individual cell genomes. Up to 41% of the frontal cortex neurons had copy number variations—no two alike—with deletions more common than duplications.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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