Molecular features driving cellular complexity of human brain evolution

Emre Caglayan, Fatma Ayhan, Yuxiang Liu, Rachael M. Vollmer, Emily Oh, Chet C. Sherwood, Todd M. Preuss, Soojin V. Yi () and Genevieve Konopka ()
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Emre Caglayan: UT Southwestern Medical Center
Fatma Ayhan: UT Southwestern Medical Center
Yuxiang Liu: UT Southwestern Medical Center
Rachael M. Vollmer: UT Southwestern Medical Center
Emily Oh: UT Southwestern Medical Center
Chet C. Sherwood: The George Washington University
Todd M. Preuss: Emory University
Soojin V. Yi: University of California, Santa Barbara
Genevieve Konopka: UT Southwestern Medical Center

Nature, 2023, vol. 620, issue 7972, 145-153

Abstract: Abstract Human-specific genomic changes contribute to the unique functionalities of the human brain1–5. The cellular heterogeneity of the human brain6,7 and the complex regulation of gene expression highlight the need to characterize human-specific molecular features at cellular resolution. Here we analysed single-nucleus RNA-sequencing and single-nucleus assay for transposase-accessible chromatin with sequencing datasets for human, chimpanzee and rhesus macaque brain tissue from posterior cingulate cortex. We show a human-specific increase of oligodendrocyte progenitor cells and a decrease of mature oligodendrocytes across cortical tissues. Human-specific regulatory changes were accelerated in oligodendrocyte progenitor cells, and we highlight key biological pathways that may be associated with the proportional changes. We also identify human-specific regulatory changes in neuronal subtypes, which reveal human-specific upregulation of FOXP2 in only two of the neuronal subtypes. We additionally identify hundreds of new human accelerated genomic regions associated with human-specific chromatin accessibility changes. Our data also reveal that FOS::JUN and FOX motifs are enriched in the human-specifically accessible chromatin regions of excitatory neuronal subtypes. Together, our results reveal several new mechanisms underlying the evolutionary innovation of human brain at cell-type resolution.

Date: 2023
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DOI: 10.1038/s41586-023-06338-4

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