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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease
Tara N Yankee1, Sungryong Oh2, Emma Wentworth Winchester1
1Graduate Program in Genetics and Developmental Biology, UConn Health, Farmington, CT, 06030, USA.
Nature Communications
|August 2, 2023
Summary
Researchers identified key genes involved in craniofacial development and disorders. This study highlights genes crucial for early human development and potential links to orofacial clefting, offering new insights into congenital defects.
Area of Science:
- Genomics
- Developmental Biology
- Human Genetics
Background:
- Craniofacial disorders are common congenital defects originating in early pregnancy.
- Understanding gene expression during craniofacial patterning is crucial for elucidating disorder origins.
Purpose of the Study:
- To characterize gene expression during human craniofacial development.
- To identify genes and regulatory elements associated with craniofacial disorders.
Main Methods:
- Bulk and single-cell RNA sequencing of human craniofacial tissue (4-8 weeks post-conception).
- Comparative transcriptomic analysis against other human tissues.
- Gene co-expression network analysis.
- Integration of transcriptomic and epigenomic data.
Main Results:
- Identified 239 craniofacial-biased genes during development.
- Found craniofacial-biased enhancers near these genes.
- Discovered regulatory hubs enriched for disease genes and mutation-resistant genes.
- Identified 539 candidate genes for craniofacial disorders, with 400 previously unlinked.
Conclusions:
- The study pinpoints critical genes and regulatory regions in craniofacial development.
- A newly identified set of 539 genes shows enrichment for de novo mutations in orofacial clefting patients.
- These findings provide a foundation for further research into the genetic basis of craniofacial disorders.
