Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine

J Biol Chem. 2000 Jan 28;275(4):2636-46. doi: 10.1074/jbc.275.4.2636.

Abstract

The loss of transglutaminase 1 enzyme (TGase 1) activity causes lamellar ichthyosis. Recessive X-linked ichthyosis (XI) results from accumulation of excess cholesterol 3-sulfate (CSO(4)) in the epidermis but the pathomechanism how elevated epidermal CSO(4) causes ichthyosis is largely unknown. Here we provide evidence that XI is also a consequence of TGase 1 dysfunction. TGase 1 is a key component of barrier formation in keratinocytes: it participates in the cross-linking of cell envelope (CE) structural proteins, and also forms the lipid bound envelope by esterification of long chain omega-hydroxyceramides onto CE proteins. Using involucrin and an epidermal omega-hydroxyceramide analog as substrates, kinetic analyses revealed that at membrane concentrations above 4 mol %, CSO(4) caused a marked and dose-dependent inhibitory effect on isopeptide and ester bond formation. Sequencing of tryptic peptides from TGase 1-reacted involucrin showed a large increase in deamidation of substrate glutamines. We hypothesize that supraphysiological levels of CSO(4) in keratinocyte membranes distort the structure of TGase 1 and facilitate the access of water into its active site causing hydrolysis of substrate glutamine residues. Our findings provide further evidence for the pivotal role of the TGase 1 enzyme in CE formation.

MeSH terms

  • Base Sequence
  • Cholesterol Esters / metabolism*
  • Chromatography, High Pressure Liquid
  • DNA Primers
  • Epidermis / enzymology
  • Epidermis / metabolism*
  • Esterification
  • Glycine / chemistry
  • Humans
  • Hydrolysis
  • Lysine / chemistry
  • Mutation
  • Protein Precursors / chemistry
  • Protein Precursors / genetics
  • Protein Precursors / metabolism
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Transglutaminases / metabolism*

Substances

  • Cholesterol Esters
  • DNA Primers
  • Protein Precursors
  • Recombinant Proteins
  • involucrin
  • Transglutaminases
  • transglutaminase 1
  • Lysine
  • cholesteryl sulfate
  • Glycine