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1. Vascular architecture regulates mesenchymal stromal cell heterogeneity via P53-PDGF signaling in the mouse incisor

   Guo, Tingwei; Pei, Fei; Zhang, Mingyi; Yamada, Takahiko; Feng, Jifan; Jing, Junjun; Ho, Thach-Vu; Chai, Yang. Cell Stem Cell. vol. 31(6), 904–920.e6. June 2024.

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2. Dynamic enhancer landscapes in human craniofacial development

   Rajderkar, Sudha Sunil; Paraiso, Kitt; Amaral, Maria Luisa; Kosicki, Michael; Cook, Laura E.; Darbellay, Fabrice; Spurrell, Cailyn H.; Osterwalder, Marco; Zhu, Yiwen; Wu, Han; Afzal, Sarah Yasmeen; Blow, Matthew J.; Kelman, Guy; Barozzi, Iros; Fukuda-Yuzawa, Yoko; Akiyama, Jennifer A.; Afzal, Veena; Tran, Stella; Plajzer-Frick, Ingrid; Novak, Catherine S.; Kato, Momoe; Hunter, Riana D.; Von Maydell, Kianna; Wang, Allen; Lin, Lin; Preissl, Sebastian; Lisgo, Steven; Ren, Bing; Dickel, Diane E.; Pennacchio, Len A.; Visel, Axel. Nature Communications. vol. 15(1), 2030. March 2024.

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   The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies. Here, we combine histone modification, chromatin accessibility, and gene expression profiling of human craniofacial development with single-cell analyses of the developing mouse face to define the regulatory landscape of facial development at tissue- and single cell-resolution. We provide temporal activity profiles for 14,000 human developmental craniofacial enhancers. We find that 56% of human craniofacial enhancers share chromatin accessibility in the mouse and we provide cell population- and embryonic stage-resolved predictions of their in vivo activity. Taken together, our data provide an expansive resource for genetic and developmental studies of human craniofacial development.

3. Comparing 2D and 3D representations for face-based genetic syndrome diagnosis

   Bannister, Jordan J.; Wilms, Matthias; Aponte, J. David; Katz, David C.; Klein, Ophir D.; Bernier, Francois P.; Spritz, Richard A.; Hallgrímsson, Benedikt; Forkert, Nils D.. European Journal of Human Genetics. vol. 31(9), 1010–1016. September 2023.

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