Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation

PLoS Genet. 2016 Apr 27;12(4):e1006002. doi: 10.1371/journal.pgen.1006002. eCollection 2016 Apr.

Abstract

Collagen is a major component of the extracellular matrix and its integrity is essential for connective tissue and organ function. The importance of proteins involved in intracellular collagen post-translational modification, folding and transport was recently highlighted from studies on recessive forms of osteogenesis imperfecta (OI). Here we describe the critical role of SC65 (Synaptonemal Complex 65, P3H4), a leprecan-family member, as part of an endoplasmic reticulum (ER) complex with prolyl 3-hydroxylase 3. This complex affects the activity of lysyl-hydroxylase 1 potentially through interactions with the enzyme and/or cyclophilin B. Loss of Sc65 in the mouse results in instability of this complex, altered collagen lysine hydroxylation and cross-linking leading to connective tissue defects that include low bone mass and skin fragility. This is the first indication of a prolyl-hydroxylase complex in the ER controlling lysyl-hydroxylase activity during collagen synthesis.

Publication types

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

MeSH terms

  • Animals
  • Autoantigens / genetics
  • Autoantigens / metabolism*
  • Bone and Bones / physiology
  • Cell Line
  • Collagen / biosynthesis*
  • Collagen / metabolism
  • Cyclophilins / metabolism
  • Endoplasmic Reticulum / metabolism*
  • Extracellular Matrix / metabolism
  • Hydroxylation / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Osteogenesis Imperfecta / genetics
  • Osteogenesis Imperfecta / pathology
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / genetics
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / metabolism*
  • Procollagen-Proline Dioxygenase / metabolism*
  • Protein Processing, Post-Translational / physiology*

Substances

  • Autoantigens
  • SC65 protein, mouse
  • cyclophilin B
  • Collagen
  • Procollagen-Proline Dioxygenase
  • Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
  • proline, 2-oxoglutarate 3-dioxygenase
  • Cyclophilins