Epigenetic regulation of craniofacial development and disease

Lomeli C. Shull, Kristin B. Artinger

Research output: Contribution to journalReview articlepeer-review


Background: The formation of the craniofacial complex relies on proper neural crest development. The gene regulatory networks (GRNs) and signaling pathways orchestrating this process have been extensively studied. These GRNs and signaling cascades are tightly regulated as alterations to any stage of neural crest development can lead to common congenital birth defects, including multiple syndromes affecting facial morphology as well as nonsyndromic facial defects, such as cleft lip with or without cleft palate. Epigenetic factors add a hierarchy to the regulation of transcriptional networks and influence the spatiotemporal activation or repression of specific gene regulatory cascades; however less is known about their exact mechanisms in controlling precise gene regulation. Aims: In this review, we discuss the role of epigenetic factors during neural crest development, specifically during craniofacial development and how compromised activities of these regulators contribute to congenital defects that affect the craniofacial complex.

Original languageEnglish (US)
Article numbere2271
JournalBirth Defects Research
Issue number1
StatePublished - Jan 2024

Bibliographical note

Publisher Copyright:
© 2023 Wiley Periodicals LLC.


  • chromatin
  • congenital birth defects
  • craniofacial
  • epigenetics
  • neural crest

PubMed: MeSH publication types

  • Journal Article
  • Review


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