Single-cell analysis of chromatin state and transcriptome in the human basal ganglia.

A single-cell multi-omic atlas across eight human basal ganglia regions maps histone-modification and transcriptome landscapes, resolving cell-type- and region-specific regulatory elements and networks.

• Why it matters: Basal ganglia dysfunction underlies many neurological and psychiatric disorders, but how epigenomic regulation varies across regions and cell types is not well defined.
• What they did: The study profiled histone modifications and transcriptomes in neurotypical human donors, integrated matched MERFISH spatial transcriptomics, and used the atlas to interpret noncoding neuropsychiatric risk variants.
• The result: Combinatorial homeobox transcription-factor expression distinguishes neuronal cell identities, and a deep-learning model predicts gene regulatory activities and variant effects, enabling regulatory interpretation of disease genetics.

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