Cell type-specific enrichment of somatic aneuploidy in the mammalian brain.

ABSTRACT: Somatic mutations alter the genomes of a subset of an individual's brain cells^1-3, impacting gene regulation and contributing to disease processes^4,5. Mosaic single nucleotide variants have been characterized with single-cell resolution in the brain^2,3, but we have limited information about large-scale structural variation, including whole-chromosome duplication or loss^1,6,7. We used a dataset of over 415,000 single-cell DNA methylation and chromatin conformation profiles across the adult mouse brain to identify aneuploid cells comprehensively. Whole-chromosome loss or duplication occurred in <1% of cells, with rates up to 1.8% in non-neuronal cell types, including oligodendrocyte precursors and pericytes. Among all aneuploidies, we observed a st

SUBMITTER: Mukamel EA 

PROVIDER: S-EPMC10769240 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature