publication . Article . 2014

Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta.

Cabral, Wayne A.; Perdivara, Irina; Weis, MaryAnn; Terajima, Masahiko; Blissett, Angela R.; Chang, Weizhong; Perosky, Joseph E.; Makareeva, Elena N.; Mertz, Edward L.; Leikin, Sergey; ...
Open Access
  • Published: 01 Jun 2014 Journal: PLoS Genetics, volume 10, page e1004465 (eissn: 1553-7404, Copyright policy)
  • Publisher: Public Library of Science (PLoS)
Abstract
Author Summary Osteogenesis imperfecta (OI), or brittle bone disease, is characterized by susceptibility to fractures from minimal trauma and growth deficiency. Deficiency of components of the collagen prolyl 3-hydroxylation complex, CRTAP, P3H1 and CyPB, cause recessive types VII, VIII and IX OI, respectively. We have previously shown that mutual protection within the endoplasmic reticulum accounts for the overlapping severe phenotype of patients with CRTAP and P3H1 mutations. However, the bone dysplasia in patients with CyPB deficiency is distinct in terms of phenotype and type I collagen biochemistry. Using a knock-out mouse model of type IX OI, we have demon...
Subjects
free text keywords: Genetics(clinical), Genetics, Cancer Research, Ecology, Evolution, Behavior and Systematics, Molecular Biology, Hydroxylation, chemistry.chemical_compound, chemistry, Fibroblast, medicine.anatomical_structure, medicine, PPIB, Fibrillogenesis, Collagen, type I, alpha 1, Osteoblast, Type I collagen, Biology, Hydroxylysine, QH426-470, Research Article, Biology and Life Sciences, Biochemistry, Medicine and Health Sciences, Clinical Genetics, Research and Analysis Methods, Model Organisms
Funded by
NIH| Sclerostin Antibody Therapy for Treatment of Osteogenesis Imperfecta
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01AR062522-04
  • Funding stream: NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
,
NIH| Collagen Glycosylation, Maturation and Mineralization
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R21AR060978-02
  • Funding stream: NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
75 references, page 1 of 5

1 Myllyharju J, Kivirikko KI (2004) Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 20: 33–43.14698617 [OpenAIRE] [PubMed]

2 Knott L, Bailey AJ (1998) Collagen cross-links in mineralizing tissues: a review of their chemistry, function, and clinical relevance. Bone 22: 181–187.9514209 [PubMed]

3 Eyre DR, Wu J (2005) Collagen Cross-Links. In: Brinckmann J, Notbohm H, Muller PK, Eds. Collagen: Primer in Structure, Processing and Assembly. Berlin: Springer Berlin Heidelberg. pp. 207–229.

4 Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, et al (2007) Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 28: 209–221.17078022 [OpenAIRE] [PubMed]

5 Forlino A, Cabral WA, Barnes AM, Marini JC (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7: 540–557.21670757 [OpenAIRE] [PubMed]

6 Marini JC, Cabral WA, Barnes AM, Chang W (2007) Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 6: 1675–1681.17630507 [PubMed]

7 Vranka JA, Sakai LY, Bachinger HP (2004) Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. J Biol Chem 279: 23615–23621.15044469 [OpenAIRE] [PubMed]

8 Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, et al (2006) CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127: 291–304.17055431 [OpenAIRE] [PubMed]

9 Ishikawa Y, Wirz J, Vranka JA, Nagata K, Bachinger HP (2009) Biochemical characterization of the prolyl 3-hydroxylase 1/CRTAP/cyclophilin B complex. J Biol Chem 284: 17641–17647.19419969 [OpenAIRE] [PubMed]

10 Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, et al (2007) Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 39: 359–365.17277775 [OpenAIRE] [PubMed]

11 van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, et al (2009) PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 85: 521–527.19781681 [OpenAIRE] [PubMed]

12 Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC (2009) Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet 19: 223–234.19846465 [OpenAIRE] [PubMed]

13 Galat A (2003) Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity–targets–functions. Curr Top Med Chem 3: 1315–1347.12871165 [OpenAIRE] [PubMed]

14 Gothel SF, Marahiel MA (1999) Peptidyl-prolyl cis-trans isomerases, a superfamily of ubiquitous folding catalysts. Cell Mol Life Sci 55: 423–436.10228556 [OpenAIRE] [PubMed]

15 Meunier L, Usherwood YK, Chung KT, Hendershot LM (2002) A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins. Mol Biol Cell 13: 4456–4469.12475965 [OpenAIRE] [PubMed]

75 references, page 1 of 5
Related research
Abstract
Author Summary Osteogenesis imperfecta (OI), or brittle bone disease, is characterized by susceptibility to fractures from minimal trauma and growth deficiency. Deficiency of components of the collagen prolyl 3-hydroxylation complex, CRTAP, P3H1 and CyPB, cause recessive types VII, VIII and IX OI, respectively. We have previously shown that mutual protection within the endoplasmic reticulum accounts for the overlapping severe phenotype of patients with CRTAP and P3H1 mutations. However, the bone dysplasia in patients with CyPB deficiency is distinct in terms of phenotype and type I collagen biochemistry. Using a knock-out mouse model of type IX OI, we have demon...
Subjects
free text keywords: Genetics(clinical), Genetics, Cancer Research, Ecology, Evolution, Behavior and Systematics, Molecular Biology, Hydroxylation, chemistry.chemical_compound, chemistry, Fibroblast, medicine.anatomical_structure, medicine, PPIB, Fibrillogenesis, Collagen, type I, alpha 1, Osteoblast, Type I collagen, Biology, Hydroxylysine, QH426-470, Research Article, Biology and Life Sciences, Biochemistry, Medicine and Health Sciences, Clinical Genetics, Research and Analysis Methods, Model Organisms
Funded by
NIH| Sclerostin Antibody Therapy for Treatment of Osteogenesis Imperfecta
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R01AR062522-04
  • Funding stream: NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
,
NIH| Collagen Glycosylation, Maturation and Mineralization
Project
  • Funder: National Institutes of Health (NIH)
  • Project Code: 5R21AR060978-02
  • Funding stream: NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES
75 references, page 1 of 5

1 Myllyharju J, Kivirikko KI (2004) Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 20: 33–43.14698617 [OpenAIRE] [PubMed]

2 Knott L, Bailey AJ (1998) Collagen cross-links in mineralizing tissues: a review of their chemistry, function, and clinical relevance. Bone 22: 181–187.9514209 [PubMed]

3 Eyre DR, Wu J (2005) Collagen Cross-Links. In: Brinckmann J, Notbohm H, Muller PK, Eds. Collagen: Primer in Structure, Processing and Assembly. Berlin: Springer Berlin Heidelberg. pp. 207–229.

4 Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, et al (2007) Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 28: 209–221.17078022 [OpenAIRE] [PubMed]

5 Forlino A, Cabral WA, Barnes AM, Marini JC (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7: 540–557.21670757 [OpenAIRE] [PubMed]

6 Marini JC, Cabral WA, Barnes AM, Chang W (2007) Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 6: 1675–1681.17630507 [PubMed]

7 Vranka JA, Sakai LY, Bachinger HP (2004) Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes. J Biol Chem 279: 23615–23621.15044469 [OpenAIRE] [PubMed]

8 Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, et al (2006) CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127: 291–304.17055431 [OpenAIRE] [PubMed]

9 Ishikawa Y, Wirz J, Vranka JA, Nagata K, Bachinger HP (2009) Biochemical characterization of the prolyl 3-hydroxylase 1/CRTAP/cyclophilin B complex. J Biol Chem 284: 17641–17647.19419969 [OpenAIRE] [PubMed]

10 Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, et al (2007) Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 39: 359–365.17277775 [OpenAIRE] [PubMed]

11 van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, et al (2009) PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 85: 521–527.19781681 [OpenAIRE] [PubMed]

12 Chang W, Barnes AM, Cabral WA, Bodurtha JN, Marini JC (2009) Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet 19: 223–234.19846465 [OpenAIRE] [PubMed]

13 Galat A (2003) Peptidylprolyl cis/trans isomerases (immunophilins): biological diversity–targets–functions. Curr Top Med Chem 3: 1315–1347.12871165 [OpenAIRE] [PubMed]

14 Gothel SF, Marahiel MA (1999) Peptidyl-prolyl cis-trans isomerases, a superfamily of ubiquitous folding catalysts. Cell Mol Life Sci 55: 423–436.10228556 [OpenAIRE] [PubMed]

15 Meunier L, Usherwood YK, Chung KT, Hendershot LM (2002) A subset of chaperones and folding enzymes form multiprotein complexes in endoplasmic reticulum to bind nascent proteins. Mol Biol Cell 13: 4456–4469.12475965 [OpenAIRE] [PubMed]

75 references, page 1 of 5
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