The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function

Nature. 2019 Oct;574(7777):249-253. doi: 10.1038/s41586-019-1615-3. Epub 2019 Oct 2.

Abstract

The integrity of the mammalian epidermis depends on a balance of proliferation and differentiation in the resident population of stem cells1. The kinase RIPK4 and the transcription factor IRF6 are mutated in severe developmental syndromes in humans, and mice lacking these genes display epidermal hyperproliferation and soft-tissue fusions that result in neonatal lethality2-5. Our understanding of how these genes control epidermal differentiation is incomplete. Here we show that the role of RIPK4 in mouse development requires its kinase activity; that RIPK4 and IRF6 expressed in the epidermis regulate the same biological processes; and that the phosphorylation of IRF6 at Ser413 and Ser424 primes IRF6 for activation. Using RNA sequencing (RNA-seq), histone chromatin immunoprecipitation followed by sequencing (ChIP-seq) and assay for transposase-accessible chromatin using sequencing (ATAC-seq) of skin in wild-type and IRF6-deficient mouse embryos, we define the transcriptional programs that are regulated by IRF6 during epidermal differentiation. IRF6 was enriched at bivalent promoters, and IRF6 deficiency caused defective expression of genes that are involved in the metabolism of lipids and the formation of tight junctions. Accordingly, the lipid composition of the stratum corneum of Irf6-/- skin was abnormal, culminating in a severe defect in the function of the epidermal barrier. Collectively, our results explain how RIPK4 and IRF6 function to ensure the integrity of the epidermis and provide mechanistic insights into why developmental syndromes that are characterized by orofacial, skin and genital abnormalities result when this axis goes awry.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Animals
  • Cell Differentiation*
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Cysts / genetics
  • Embryo, Mammalian / cytology
  • Embryo, Mammalian / embryology
  • Embryo, Mammalian / metabolism
  • Epidermal Cells / cytology*
  • Epidermal Cells / metabolism
  • Epidermis / embryology
  • Epidermis / physiology*
  • Eye Abnormalities / genetics
  • Female
  • Fingers / abnormalities
  • Gene Expression Regulation
  • Interferon Regulatory Factors / deficiency
  • Interferon Regulatory Factors / genetics
  • Interferon Regulatory Factors / metabolism*
  • Knee / abnormalities
  • Knee Joint / abnormalities
  • Lip / abnormalities
  • Lipid Metabolism / genetics
  • Lower Extremity Deformities, Congenital / genetics
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Phosphorylation
  • Phosphoserine / metabolism
  • Protein Serine-Threonine Kinases / genetics
  • Protein Serine-Threonine Kinases / metabolism*
  • Signal Transduction*
  • Syndactyly / genetics
  • Urogenital Abnormalities / genetics

Substances

  • IRF6 protein, mouse
  • Interferon Regulatory Factors
  • Phosphoserine
  • Protein Serine-Threonine Kinases
  • Ripk4 protein, mouse

Supplementary concepts

  • Popliteal Pterygium Syndrome
  • Popliteal Pterygium Syndrome, Lethal Type
  • Van der Woude syndrome