Collagen XVII deficiency alters epidermal patterning

Lab Invest. 2022 Jun;102(6):581-588. doi: 10.1038/s41374-022-00738-2. Epub 2022 Feb 10.


Vertebrates exhibit patterned epidermis, exemplified by scales/interscales in mice tails and grooves/ridges on the human skin surface (microtopography). Although the role of spatiotemporal regulation of stem cells (SCs) has been implicated in this process, the mechanism underlying the development of such epidermal patterns is poorly understood. Here, we show that collagen XVII (COL17), a niche for epidermal SCs, helps stabilize epidermal patterns. Gene knockout and rescue experiments revealed that COL17 maintains the width of the murine tail scale epidermis independently of epidermal cell polarity. Skin regeneration after wounding was associated with slender scale epidermis, which was alleviated by overexpression of human COL17. COL17-negative skin in human junctional epidermolysis bullosa showed a distinct epidermal pattern from COL17-positive skin that resulted from revertant mosaicism. These results demonstrate that COL17 contributes to defining mouse tail scale shapes and human skin microtopography. Our study sheds light on the role of the SC niche in tissue pattern formation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Autoantigens* / genetics
  • Collagen Type XVII
  • Epidermis* / growth & development
  • Mice
  • Non-Fibrillar Collagens* / deficiency
  • Non-Fibrillar Collagens* / genetics
  • Skin


  • Autoantigens
  • Non-Fibrillar Collagens