WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis

Nature. 2014 Jul 17;511(7509):358-61. doi: 10.1038/nature13465. Epub 2014 Jul 2.

Abstract

The surface of the cornea consists of a unique type of non-keratinized epithelial cells arranged in an orderly fashion, and this is essential for vision by maintaining transparency for light transmission. Cornea epithelial cells (CECs) undergo continuous renewal from limbal stem or progenitor cells (LSCs), and deficiency in LSCs or corneal epithelium--which turns cornea into a non-transparent, keratinized skin-like epithelium--causes corneal surface disease that leads to blindness in millions of people worldwide. How LSCs are maintained and differentiated into corneal epithelium in healthy individuals and which key molecular events are defective in patients have been largely unknown. Here we report establishment of an in vitro feeder-cell-free LSC expansion and three-dimensional corneal differentiation protocol in which we found that the transcription factors p63 (tumour protein 63) and PAX6 (paired box protein PAX6) act together to specify LSCs, and WNT7A controls corneal epithelium differentiation through PAX6. Loss of WNT7A or PAX6 induces LSCs into skin-like epithelium, a critical defect tightly linked to common human corneal diseases. Notably, transduction of PAX6 in skin epithelial stem cells is sufficient to convert them to LSC-like cells, and upon transplantation onto eyes in a rabbit corneal injury model, these reprogrammed cells are able to replenish CECs and repair damaged corneal surface. These findings suggest a central role of the WNT7A-PAX6 axis in corneal epithelial cell fate determination, and point to a new strategy for treating corneal surface diseases.

Publication types

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

MeSH terms

  • Animals
  • Cell Differentiation
  • Cell Lineage
  • Corneal Diseases / metabolism*
  • Corneal Diseases / pathology*
  • Disease Models, Animal
  • Epithelium, Corneal / cytology*
  • Epithelium, Corneal / metabolism*
  • Epithelium, Corneal / pathology
  • Eye Proteins / genetics
  • Eye Proteins / metabolism*
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Homeostasis*
  • Humans
  • Limbus Corneae / cytology
  • Limbus Corneae / metabolism
  • Male
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Paired Box Transcription Factors / metabolism*
  • Rabbits
  • Repressor Proteins / genetics
  • Repressor Proteins / metabolism*
  • Signal Transduction
  • Skin / cytology
  • Skin / metabolism
  • Skin / pathology
  • Stem Cell Transplantation
  • Stem Cells / cytology
  • Stem Cells / metabolism
  • Transcription Factors / metabolism
  • Tumor Suppressor Proteins / metabolism
  • Wnt Proteins / genetics
  • Wnt Proteins / metabolism*

Substances

  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins
  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins
  • WNT7A protein, human
  • Wnt Proteins

Associated data

  • GEO/GSE32145
  • GEO/GSE54322