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Interferon regulatory factor 6 (IRF6) regulates TFAP2A protein levels during skin development. This interaction is crucial for preventing orofacial clefting and other developmental disorders.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Variants in IRF6 gene are linked to Van der Woude syndrome and popliteal pterygium syndrome.
  • Genes like GRHL3 and TP63, along with regulatory elements like the MCS9.7 enhancer, are associated with orofacial clefting.
  • A specific variant (rs642961) in the MCS9.7 enhancer disrupts AP2A protein binding, increasing orofacial clefting risk.

Purpose of the Study:

  • To investigate the functional role of AP2A protein in regulating the MCS9.7 enhancer and IRF6 expression.
  • To elucidate the relationship between IRF6 and AP2A protein in epidermal development.
  • To provide in vivo functional data explaining the link between AP2A binding, the MCS9.7 enhancer, and orofacial clefting.

Main Methods:

  • In vivo studies to assess AP2A regulation of MCS9.7 enhancer activity.
  • Analysis of IRF6 protein expression during epidermal development.
  • Investigation of AP2A protein expression in IRF6 loss-of-function models.
  • Utilizing an IRF6 allelic series to examine effects on AP2A protein stability.

Main Results:

  • AP2A protein was found to regulate MCS9.7 enhancer activity and IRF6 expression in vivo.
  • Loss of IRF6 resulted in increased AP2A protein expression.
  • Both increased and decreased IRF6 expression destabilized AP2A protein levels in vivo, indicating a regulatory feedback loop.
  • IRF6 was confirmed to regulate AP2A protein levels during epidermal development.

Conclusions:

  • IRF6 and TFAP2A (AP2A protein) are integral components of a genetic regulatory network essential for epithelial development.
  • This network has significant implications for orofacial and cutaneous tissue development.
  • The study provides critical in vivo evidence for the functional impact of the MCS9.7 enhancer variant on orofacial clefting risk.