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0The paper describe a comprehensive multimodal facial atlas mapping single-cell transcriptomics, spatial localization, and chromatin accessibility across human embryonic weeks 6 to 11 to understand the cellular and genetic mechanisms driving facial diversity and craniofacial birth defects. By integrating these single-cell multi-omic datasets with genome-wide association studies (GWAS), the research reveals that early mesenchymal progenitor cells exert the strongest influence on human morphological variation, which diminishes as cells mature over time. Furthermore, the findings demonstrate that spatial transcription factors and region-specific enhancers—such as those linked to the genes PAX1 and ALX1—play critical roles in regulating skeletal development and shaping specific facial structures.
References:
Erickson A G, Gershtein Y, Galimullina R, et al. Atlas of cell types and regulatory elements underlying human facial diversity[J]. Nature Genetics, 2026: 1-15.
