Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15

J Biol Chem. 2000 Feb 4;275(5):3093-9. doi: 10.1074/jbc.275.5.3093.

Abstract

Collagen XVII is a hemidesmosomal transmembrane molecule important for epithelial adhesion in the skin. It exists in two forms, as a full-length protein and as a soluble ectodomain that is shed from the keratinocyte surface by furin-mediated proteolysis. To obtain information on the conformation and the functions of this unusual collagen, its largest collagenous domain, Col15, was expressed in a eukaryotic episomal expression system and purified by DEAE and fast protein liquid- Mono S chromatography. The protein was triple-helical (T(m) of 26.5 degrees C) when produced in cultures containing ascorbic acid. When the vitamin supply was limited, the 4-hydroxyproline content was reduced from 74 to 9%, which, in turn, resulted in a drastic reduction of the stability of the triple helix. The glycine substitution mutation G627V associated with junctional epidermolysis bullosa, a human blistering skin disease, also had a striking effect on thermal stability of rCol15 causing partial unfolding already at 4 degrees C. Col15 promoted cell adhesion of epithelial and fibroblastic cell lines with a beta1 integrin-mediated mechanism. In concert with this, in acquired autoimmune blistering skin diseases, circulating IgG and IgA autoantibodies were found to target rCol15r.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Autoantigens / chemistry*
  • Autoantigens / genetics*
  • Carrier Proteins*
  • Cell Adhesion
  • Circular Dichroism
  • Collagen / chemistry*
  • Collagen / genetics*
  • Collagen Type XVII
  • Cytoskeletal Proteins*
  • Dystonin
  • Glycine / chemistry
  • Glycine / genetics
  • Humans
  • Nerve Tissue Proteins*
  • Non-Fibrillar Collagens*
  • Point Mutation
  • Protein Conformation
  • Structure-Activity Relationship

Substances

  • Autoantigens
  • Carrier Proteins
  • Cytoskeletal Proteins
  • DST protein, human
  • Dystonin
  • Nerve Tissue Proteins
  • Non-Fibrillar Collagens
  • Collagen
  • Glycine