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- W4323568365 abstract "When somatic cells acquire complex karyotypes, they are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes arise during neurotypical brain development, but neurons are almost never the origin of brain cancers. Instead, somatic mutations in neurons can bring about neurodevelopmental disorders, and contribute to the polygenic landscape of neuropsychiatric and neurodegenerative disease. A subset of human neurons harbors idiosyncratic copy number variants (CNVs, CNV neurons), but previous analyses of CNV neurons have been limited by relatively small sample sizes. Here, we developed an allele-based validation approach, SCOVAL, to corroborate or reject read-depth based CNV calls in single human neurons. We applied this approach to 2,125 frontal cortical neurons from a neurotypical human brain. This approach identified 226 CNV neurons, as well as a class of CNV neurons with complex karyotypes containing whole or substantial losses on multiple chromosomes. Moreover, we found that CNV location appears to be nonrandom. Recurrent regions of neuronal genome rearrangement contained fewer, but longer, genes." @default.
- W4323568365 created "2023-03-09" @default.
- W4323568365 creator A5016025349 @default.
- W4323568365 creator A5018068219 @default.
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- W4323568365 creator A5036019308 @default.
- W4323568365 creator A5037802665 @default.
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- W4323568365 creator A5059851345 @default.
- W4323568365 creator A5066273824 @default.
- W4323568365 date "2023-03-07" @default.
- W4323568365 modified "2023-09-27" @default.
- W4323568365 title "Mapping the Complex Genetic Landscape of Human Neurons" @default.
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