Transcriptional enhancers in human neuronal differentiation and neuronal disorders

It is necessary to identify the functional roles of variants found in genome-wide association studies (GWASs) , which are largely located in non-coding DNA regions and are associated with neuropsychiatric disorders.

The researchers identify 47,350 active putative enhancers in differentiating human LUHMES neurons using NET-CAGE, which detects eRNAs with high nucleotide resolution.

They also show that SNPs associated with Parkinson’s disease and schizophrenia are enriched in enhancers active in LUHMES cells.

The authors identify enhancer–promoter interactions via the Capture Hi-C method and functionally validate a subset through the CRISPR activation technique.

https://www.embopress.org/doi/full/10.1038/s44319-025-00372-1

https://sciencemission.com/enhancers-in-human-neuronal-differentiation