Cell Reports
Volume 23, Issue 5, 1 May 2018, Pages 1581-1597
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High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

https://doi.org/10.1016/j.celrep.2018.03.129Get rights and content
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Highlights

  • Global profiling of histone modifications across early human craniofacial development

  • Chromatin state segmentation reveals enhancers with craniofacial-specific activation

  • Early craniofacial enhancers enriched with genetic associations for orofacial clefting

  • Late craniofacial enhancers enriched with genetic associations for normal facial shape

Summary

Defects in patterning during human embryonic development frequently result in craniofacial abnormalities. The gene regulatory programs that build the craniofacial complex are likely controlled by information located between genes and within intronic sequences. However, systematic identification of regulatory sequences important for forming the human face has not been performed. Here, we describe comprehensive epigenomic annotations from human embryonic craniofacial tissues and systematic comparisons with multiple tissues and cell types. We identified thousands of tissue-specific craniofacial regulatory sequences and likely causal regions for rare craniofacial abnormalities. We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. These data are provided in easily accessible formats for both craniofacial researchers and clinicians to aid future experimental design and interpretation of noncoding variation in those affected by craniofacial abnormalities.

Keywords

development
genomics
epigenomics
craniofacial
chromatin state
orofacial clefting
cleft palate
cleft lip
developmental enhancer
cis-regulatory sequence
transcriptional enhancer

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