CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

Cell. 2006 Oct 20;127(2):291-304. doi: 10.1016/j.cell.2006.08.039.

Abstract

Prolyl hydroxylation is a critical posttranslational modification that affects structure, function, and turnover of target proteins. Prolyl 3-hydroxylation occurs at only one position in the triple-helical domain of fibrillar collagen chains, and its biological significance is unknown. CRTAP shares homology with a family of putative prolyl 3-hydroxylases (P3Hs), but it does not contain their common dioxygenase domain. Loss of Crtap in mice causes an osteochondrodysplasia characterized by severe osteoporosis and decreased osteoid production. CRTAP can form a complex with P3H1 and cyclophilin B (CYPB), and Crtap-/- bone and cartilage collagens show decreased prolyl 3-hydroxylation. Moreover, mutant collagen shows evidence of overmodification, and collagen fibrils in mutant skin have increased diameter consistent with altered fibrillogenesis. In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms. Hence, dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Bone Diseases, Metabolic / genetics
  • Bone Diseases, Metabolic / metabolism
  • Bone Diseases, Metabolic / pathology
  • Bone and Bones / embryology
  • Bone and Bones / metabolism
  • Bone and Bones / pathology
  • Cells, Cultured
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins / genetics
  • Extracellular Matrix Proteins / metabolism*
  • Fibrillar Collagens / metabolism
  • Fibroblasts / metabolism
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Molecular Chaperones
  • Molecular Sequence Data
  • Mutation*
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / metabolism
  • Osteochondrodysplasias / pathology
  • Osteogenesis Imperfecta / genetics*
  • Osteogenesis Imperfecta / metabolism
  • Procollagen-Proline Dioxygenase / metabolism*
  • Proteins / genetics
  • Proteins / metabolism*
  • RNA, Messenger / metabolism
  • Time Factors

Substances

  • CRTAP protein, human
  • Crtap protein, mouse
  • Extracellular Matrix Proteins
  • Fibrillar Collagens
  • Molecular Chaperones
  • Proteins
  • RNA, Messenger
  • Procollagen-Proline Dioxygenase
  • proline, 2-oxoglutarate 3-dioxygenase