Unique gene expression regulatory elements in human brain

It is not clear how human brain  gene expression is regulated by cis-regulatory elements (cCREs).

The researchers generate a single-nucleus regulatory atlas (106,266 cells) of adult prefrontal cortical cells (PFC) from human, macaque, and mouse and find human specific candidate cCREs.

Human-specific gene expression largely reflects primate specific regulatory innovations, with certain cCREs directly modulating these genes.

The authors also found unique human genome enriched transposable elements such as endogenous retrovirus-K (ERVK) and long interspersed nuclear element 1 (LINE-1), suggesting a role in regulatory innovation during PFC evolution.

Machine learning highlights disease-associated SNPs within human specific cCREs as potential functional variants.

https://www.cell.com/cell-reports/fulltext/S2211-1247(26)00291-3

https://sciencemission.com/human-specific-regulatory-elements