Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex.

ABSTRACT: The human cerebral cortex is specialized into regions, but little is known about how human cellular lineages shape cortical regional variation and neuronal cell-type distribution during development. Here, we map single-cell lineages of human cortical regions and neuronal subtypes using >1,000 somatic single-nucleotide variants (sSNVs) identified from deep bulk whole-genome sequencing and analyzed over 25 regions and >72,000 single cells. In the fronto-parietal cortex, sSNVs are rarely restricted, marking neuron-generating clones that disperse into neighboring regions. In contrast, the primary visual cortex harbors 30%-70% more sSNVs than the neighboring secondary visual cortex. Clones at this border exhibit more restricted dispersion, suggesting late developmental lineage segregation. Sing

SUBMITTER: Viswanadham VV 

PROVIDER: S-EPMC12766648 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature