CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

@article{Morello2006CRTAPIR,
  title={CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta},
  author={Roy Morello and Terry K. Bertin and Yuqing Chen and John M. Hicks and Laura Tonachini and Massimiliano Monticone and Patrizio Castagnola and Frank Rauch and Francis H. Glorieux and Janice A. Vranka and Hans Peter Bächinger and James M. Pace and Ulrike Schwarze and Peter H Byers and MaryAnn Weis and Russell J. Fernandes and David R. Eyre and Zhenqiang Yao and Brendan F. Boyce and Brendan H. Lee},
  journal={Cell},
  year={2006},
  volume={127},
  pages={291-304}
}

Figures from this paper

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This new mouse model recapitulates elements of the bone phenotype of OI but not the cartilage and growth phenotypes caused by loss of the prolyl 3-hydroxylation complex.
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TLDR
The proband's collagen had normal collagen folding and normal prolyl 3-hydroxylation, suggesting that CyPB is not the exclusive peptidyl-prolyl cis-trans isomerase that catalyzes the rate-limiting step in collagen folding, as is currently thought.
Prolyl 3-Hydroxylase 1 Null Mice Display Abnormalities in Fibrillar Collagen-rich Tissues Such as Tendons, Skin, and Bones*
TLDR
Investigations demonstrate disturbances of collagen fiber architecture in tissues rich in fibrillar collagen, including bone, tendon, and skin, and demonstrate the importance of P3H1 and CRTAP to bone structure and development.
Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone Development
TLDR
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Severe osteogenesis imperfecta caused by a small in‐frame deletion in CRTAP
TLDR
It is suggested that this deletion affects crucial amino acids that are important for the interaction and/or stabilization of CRTAP and P3H1, and 3‐hydroxylation at proline residue 986 is decreased.
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
TLDR
It is suggested that prolyl cis-trans isomerase may be required to effectively fold the proline-rich regions of the C-terminal propeptide to allow proα chain association and suggest an order of action for CRTAP, P3H1 and CYPB in procollagen biosynthesis and pathogenesis of OI.
Characterization of Recombinant Human Prolyl 3-Hydroxylase Isoenzyme 2, an Enzyme Modifying the Basement Membrane Collagen IV*
TLDR
It is suggested that P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens and may lead to a disease with changes in basement membranes.
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