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

Cell | Oct 20, 2006

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.

Pubmed ID: 17055431 RIS Download

Mesh terms: Amino Acid Sequence | Animals | Bone Diseases, Metabolic | Bone and Bones | Cells, Cultured | DNA Mutational Analysis | Extracellular Matrix Proteins | Fibrillar Collagens | Fibroblasts | Humans | Mice | Mice, Inbred C57BL | Mice, Knockout | Molecular Sequence Data | Mutation | Osteochondrodysplasias | Osteogenesis Imperfecta | Procollagen-Proline Dioxygenase | Proteins | RNA, Messenger | Time Factors

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Associated grants

  • Agency: NIAMS NIH HHS, Id: AR41223
  • Agency: NIAMS NIH HHS, Id: AR37318
  • Agency: NIAMS NIH HHS, Id: R37 AR037318
  • Agency: NIAMS NIH HHS, Id: R01 AR036794
  • Agency: NICHD NIH HHS, Id: HD22657
  • Agency: NIAMS NIH HHS, Id: AR051459
  • Agency: NIEHS NIH HHS, Id: ES11253
  • Agency: NIAMS NIH HHS, Id: AR43510
  • Agency: NIDCR NIH HHS, Id: DE01771

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