Single-cell long-read sequencing-based mapping reveals specialized splicing patterns in developing and adult mouse and human brain

Nat Neurosci. 2024 Jun;27(6):1051-1063. doi: 10.1038/s41593-024-01616-4. Epub 2024 Apr 9.

Abstract

RNA isoforms influence cell identity and function. However, a comprehensive brain isoform map was lacking. We analyze single-cell RNA isoforms across brain regions, cell subtypes, developmental time points and species. For 72% of genes, full-length isoform expression varies along one or more axes. Splicing, transcription start and polyadenylation sites vary strongly between cell types, influence protein architecture and associate with disease-linked variation. Additionally, neurotransmitter transport and synapse turnover genes harbor cell-type variability across anatomical regions. Regulation of cell-type-specific splicing is pronounced in the postnatal day 21-to-postnatal day 28 adolescent transition. Developmental isoform regulation is stronger than regional regulation for the same cell type. Cell-type-specific isoform regulation in mice is mostly maintained in the human hippocampus, allowing extrapolation to the human brain. Conversely, the human brain harbors additional cell-type specificity, suggesting gain-of-function isoforms. Together, this detailed single-cell atlas of full-length isoform regulation across development, anatomical regions and species reveals an unappreciated degree of isoform variability across multiple axes.

MeSH terms

  • Alternative Splicing / genetics
  • Animals
  • Brain* / growth & development
  • Brain* / metabolism
  • Humans
  • Male
  • Mice
  • Mice, Inbred C57BL
  • RNA Isoforms / genetics
  • RNA Splicing / genetics
  • Single-Cell Analysis* / methods

Substances

  • RNA Isoforms

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