p63 establishes epithelial enhancers at critical craniofacial development genes

Sci Adv. 2019 May 1;5(5):eaaw0946. doi: 10.1126/sciadv.aaw0946. eCollection 2019 May.

Abstract

The transcription factor p63 is a key mediator of epidermal development. Point mutations in p63 in patients lead to developmental defects, including orofacial clefting. To date, knowledge on how pivotal the role of p63 is in human craniofacial development is limited. Using an inducible transdifferentiation model, combined with epigenomic sequencing and multicohort meta-analysis of genome-wide association studies data, we show that p63 establishes enhancers at craniofacial development genes to modulate their transcription. Disease-specific substitution mutation in the DNA binding domain or sterile alpha motif protein interaction domain of p63, respectively, eliminates or reduces establishment of these enhancers. We show that enhancers established by p63 are highly enriched for single-nucleotide polymorphisms associated with nonsyndromic cleft lip ± cleft palate (CL/P). These orthogonal approaches indicate a strong molecular link between p63 enhancer function and CL/P, illuminating molecular mechanisms underlying this developmental defect and revealing vital regulatory elements and new candidate causative genes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / abnormalities
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Enhancer Elements, Genetic / genetics*
  • Epithelial Cells / metabolism*
  • Facial Bones / growth & development*
  • Fibroblasts / metabolism
  • Foreskin / cytology
  • Genome-Wide Association Study
  • HEK293 Cells
  • Humans
  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors / metabolism
  • Male
  • Point Mutation
  • Polymorphism, Single Nucleotide
  • Skull / growth & development*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcription, Genetic
  • Transfection
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / metabolism
  • Up-Regulation / genetics

Substances

  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors
  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins

Supplementary concepts

  • Orofacial Cleft 1