Mosaic Copy Number Variation in Human Neurons
Open accessAbstract
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.
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Early successes include parallel measurement of the transcriptome and either the genome (DR-seq and G&T-seq), the methylome (scM&T-seq, an adaptation of G&T-seq), or the proteome.
“Early successes include parallel measurement of the transcriptome and either the genome (DR-seq209 and G&T-seq210), the methylome (scM&T-seq211, an adaptation of G&T-seq), or the proteome212–214.”
From Revealing the vectors of cellular identity with single-cell genomics (2016) · cites this paper as [209]
Emerging experimental frameworks now allow simultaneous measurement of multiple omic data types from the same single cell.
“Emerging experimental frameworks now allow simultaneous measurement of multiple omic data types from the same single cell.”
From Revealing the vectors of cellular identity with single-cell genomics (2016) · cites this paper as [209]
Single-cell sequencing has been used to measure the prevalence of large copy number variants in the brain.
“Single-cell sequencing has also been used to measure the prevalence of large copy number variants in the brain (McConnell, 2013; Cai, 2014).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as McConnell, 2013
Somatic mutations induced by erroneous DNA damage repair or transposable elements are a common feature of neural development, giving rise to neuron diversity through genomic mosaicism.
“somatic mutations induced by erroneous DNA damage repair or transposable elements are a common feature of neural development, giving rise to neuron diversity through genomic mosaicism”
From Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease (2022) · cites this paper as McConnell et al, 2013
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- Authors
- McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., & Gage, F. H.
- Affiliations
- Salk Institute for Biological Studies (US)
- University of Virginia (US)
- Wellcome Sanger Institute (GB)
- Laboratory of Genetics, Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
- J. Craig Venter Institute (US)
- KU Leuven (BE)
- Corresponding author
- Hall, Ira M.
- Gage, Fred H.
- ORCID
- Venue
- Science
- Published
- 2013-11
- Volume
- 342
- Issue
- 6158
- Pages
- 632-637
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3975283
- OpenAlex
- W2088470456
- Cited by
- 551
- References
- 46
- Citations by year
- 2026: 14 · 2025: 24 · 2024: 22 · 2023: 16 · 2022: 36 · 2021: 45 · 2020: 37 · 2019: 47 · 2018: 61 · 2017: 62 · 2016: 58 · 2015: 59 · 2014: 64 · 2013: 6
- FWCI
- 41.36
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Lirias (submittedVersion)
- Funders
- National Institutes of Health (1dp2od006493-01)
- U.S. Public Health Service (HHSN2752009000011C)
- National Institute of Mental Health (R01MH095741)
- National Institute of General Medical Sciences (T32GM008136)
- National Center for Chronic Disease Prevention and Health Promotion (DP20D006493-01)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275200900001O, N01-HD-9-011, HHSN275200900011C)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Keywords
- copy number variation, mosaicism, human neurons, aneuploidy, de novo CNVs, hiPSC-derived neurons, postmortem brain, frontal cortex, neural progenitor cells, single-cell genomics, chromosomal deletion
- MeSH terms
- Aneuploidy, Frontal Lobe, Humans, Male, Mosaicism, Neurons, Sequence Deletion, Sequence Analysis, DNA, Neurogenesis, DNA Copy Number Variations, Induced Pluripotent Stem Cells, Neural Stem Cells, Single-Cell Analysis
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