Atlas of cell types and regulatory elements underlying human facial diversity.

Single-cell multimodal atlas uncovers cellular and regulatory mechanisms driving human facial diversity from embryonic weeks 6-11, highlighting 56 cell states and key enhancers.

• Why it matters: Understanding how genetic variation influences facial features is crucial for deciphering normal diversity and craniofacial anomalies, yet cellular mechanisms remain poorly understood.
• What they did: The study integrated single-cell transcriptomics, chromatin accessibility, and spatial data across early development, identifying gene-enhancer interactions and spatial gene expression patterns linked to facial traits.
• The result: Findings reveal early mesenchymal cells as critical for facial variation, with enhancers influencing key genes like PAX1, and nerve signaling modulating maxilla shape, advancing knowledge of facial development and abnormalities.