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; ... (2024). Dynamic enhancer landscapes in human craniofacial development. Nature communications, 15(2030) Nature Publishing Group 10.1038/s41467-024-46396-4
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology 04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) |
UniBE Contributor: |
Osterwalder, Marco |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2041-1723 |
Publisher: |
Nature Publishing Group |
Language: |
English |
Submitter: |
Pubmed Import |
Date Deposited: |
07 Mar 2024 10:37 |
Last Modified: |
07 Mar 2024 10:44 |
Publisher DOI: |
10.1038/s41467-024-46396-4 |
PubMed ID: |
38448444 |
BORIS DOI: |
10.48350/193933 |
URI: |
https://boris.unibe.ch/id/eprint/193933 |
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