The nicholas andry award-1996: The molecular pathology of osteogenesis imperfecta

Clinical Orthopaedics and Related Research

Volumn 343, Issue , 1997, Pages 235-248

  Cole, William G ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN TYPE 1; COLLAGEN TYPE 3; DNA; HYDROXYLYSINE; HYDROXYPROLINE; PROCOLLAGEN; RNA;

ARTICLE; COLLAGEN SYNTHESIS; DENSITOMETRY; EXTRACELLULAR MATRIX; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TWO DIMENSIONAL GEL ELECTROPHORESIS;

EID: 0030824271     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1097/00003086-199710000-00034     Document Type: Article

References (69)

1. Baker AT, Ramshaw JAM, Chan D, Cole WG, Bateman JF: Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta: The effect of α1(I) glycine to arginine substitutions. Biochem J 261:253-257, 1989.
2. Bateman JF, Chan D, Lamande S, Mascara T, Cole WG: Biochemical heterogeneity of Type I collagen mutations in osteogenesis imperfecta. Ann NY Acad Sci 543:95-105, 1988.
3. Bateman JF, Chan D, Mascara T, Rogers JG, Cole WG: Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem J 240:699-708, 1986.
4. Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG: A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene - exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous. Biochem J 302:729-735, 1994.
5. Bateman JF, Chan D, Walker I, Rogers JG, Cole WG: Lethal osteogenesis imperfecta due to a substitution of arginine for glycine at residue 391 of the α1(I) chain of type I collagen. J Biol Chem 262:7021-7027, 1987.
6. Bateman JF, Cole WG, Pillow J, Ramshaw JA: Induction of procollagen processing in fibroblast cultures by neutral polymers. J Biol Chem 261: 4198-4203, 1986.
7. Bateman JF, Hannagan M, Chan D, Cole WG: Characterization of a type I collagen α2(I) glycine 586 to valine substitution in osteogenesis imperfecta type IV: Detection of the mutation and prenatal diagnosis by a chemical cleavage method. Biochem J 276: 765-770, 1991.
8. Bateman JF, Harley V, Chan D, Cole WG: Comprehensive analysis of collagen metabolism in vitro using [3H]/[14C] proline dual-labelling and polyacrylamide gel electrophoresis. Anal Biochem 168:171-175, 1988.
9. Bateman JF, Lamande S, Chan D, Cole WG: Peptide analysis of collagen produced by cDNA by in vitro transcription and translation. Biochem J 245: 393-398, 1987.
10. Bateman JF, Lamande S, Dahl H, Chan D, Cole WG: Substitution of arginine for glycine 664 in the collagen α1(I) chain in lethal perinatal osteogenesis imperfecta: Demonstration of the peptide defect by in vitro expression of the mutant cDNA. J Biol Chem 263:11627-11630, 1988.
11. Bateman JF, Lamande SR, Dahl H-HM, et al: A frameshift mutation results in a truncated non-functional proα1(I) carboxy-terminal propeptide of type I procollagen in osteogenesis imperfecta. J Biol Chem 264:10960-10964, 1989.
12. Bateman JF, Lamande SR, Hannagan M, et al: Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta. Am J Med Genet 45:233-240, 1993.
13. Bateman JF, Mascara T, Chan D, Cole WG: Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. Biochem J 217:103-115, 1984.
14. Bateman JF, Mascara T, Chan D, Cole WG: Rapid fractionation of collagen chains and peptides by high-performance liquid chromatography. Anal Biochem 154:338-344, 1986.
15. Bateman JF, Mascara T, Chan D, Cole WG: Structural mutation of type I collagen α1(I) CB7 peptide in lethal perinatal osteogenesis imperfecta. J Biol Chem 262:4445-4451, 1987.
16. Bateman JF, Mascara T, Cole WG, Stacey A, Jaenisch R: Collagen protein abnormalities produced by site-directed mutagenesis of the proα1(I) gene. Connect Tissue Res 20:205-212, 1989.
17. Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG: Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of a mRNA:cDNA sequence mismatch. Hum Mutat 1:55-62, 1992.
18. Bateman JF, Moeller I, Hannagan M, Chan D, Cole WG: Characterization of three osteogenesis imperfecta type I collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotype severity. Biochem J 288:131-135, 1992.
19. Bateman JF, Pillow JJ, Marscara T, et al: Cell-layer associated proteolytic cleavage of the telopeptides of type I collagen in fibroblast culture. Biochem J 245:677-682, 1987.
20. Byers PH, Wallis GA, Willing MC: Osteogenesis imperfecta: Translation of mutation to phenotype. J Med Genet 28:433-442, 1991.
21. Carr AJ, Cole WG, Chiodo AA, et al: The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. J Med Genet 31:306-311, 1994.
22. Chan D, Cole WG: Quantitation of type I and III collagens using electrophoresis of alpha chains and cyanogen bromide peptides. Anal Biochem 139: 322-328, 1984.
23. Chan D, Cole WG: Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells - Application to the characterization of a glycine-997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 266:12487-12494, 1991.
24. Chan D, Cole WG, Chow CW, Mundlos S, Bateman JF: A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by types I and III collagens in cartilage. J Biol Chem 270:1747-1753, 1995.
25. Chan D, Cole WG, Rogers J, Bateman JF: Type X collagen multimer assembly in vitro is prevented by a Gly(618) to Val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 270:4558-4562, 1995.
26. Chan D, Lamande S, Mitranges K, Cole WG, Bateman JF: Regulation of collagen synthesis during ascorbate-induced extracellular matrix accumulation in vitro. Biochem J 269:175-181, 1990.
27. Chan D, Rogers JF, Bateman JF, Cole WG: Recurrent substitutions of arganine 789 by cysteine in pro-α1(II) collagen chains produce spondyloepiphyseal dysplasia congenita. J Rheumatol 22: 37-38, 1995.
28. Chan D, Taylor TKF, Cole WG: Characterization of an arginine 789 to cysteine substitution in α1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem 268:15238-45, 1993.
29. Chen L, Yang W, Cole WG: Recurrent transition at a CG dinucleotide in exon 12 of COL2A1 produces Kniest dysplasia with abnormal RNA splicing by chondrocytes and lymphoblasts and interruption of the triple helix of type II collagen. Ann NY Acad Sci 785:234-237, 1996.
30. Chiodo AA, Hockey A, Cole WG: A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. J Biol Chem 267:6361-6369, 1992.
31. Chiodo AA, Sillence DO, Cole WG, Bateman JF: Abnormal type III collagen produced by an exon 17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. Biochem J 311:939-943, 1995.
32. Cole WG: Orthopaedic treatment of osteogenesis imperfecta. Ann NY Acad Sci 543:157-166, 1988.
33. Cole WG: Osteogenesis imperfecta. Baillieres Clin Endocrinol Metab 2:243-265, 1988.
34. Cole WG: Early surgical management of severe forms of osteogenesis imperfecta. Am J Med Genet 45:270-274, 1993.
35. Cole WG: Collagen genes: Mutations affecting collagen structure and expression. Prog Nucleic Acid Res Mol Biol 47:29-80, 1994.
36. Cole WG: Osteogenesis imperfecta as a consequence of naturally-occurring and induced mutations of type I collagen. J Bone Miner Res 8:167-204, 1994.
37. Cole WG: Surgery in osteogenesis imperfecta. Connect Tissue Res 31:27-29, 1995.
38. Cole WG, Campbell PE, Rogers JG, Bateman JF: The clinical features of osteogenesis imperfecta resulting from a nonfunctional carboxy-terminal pro-α1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. J Med Genet 27:545-551, 1990.
39. Cole WG, Chan D: Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis. Biochem J 197:377-383, 1981.
40. Cole WG, Chan D, Bateman JF: Two-dimensional assays of peptide fragments. Methods Enzymol 145:183-205, 1987.
41. Cole WG, Chan D, Chambers GW, Walker ID, Bateman JF: Deletion of 24 amino acids from the proα1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem 261:5496-5503, 1986.
42. Cole WG, Chan D, Hickey A, Wileken D: Collagen composition of normal and myxomatous human mitral valves. Biochem J 219:451-460, 1984.
43. Cole WG, Chan D, Lamande S, Mascara T, Bateman JF: Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta. Connect Tissue Res 21:91-97, 1989.
44. Cole WG, Chiodo AA, Lamande SR, et al: A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem 265:17070-77, 1990.
45. Cole WG, Chow CW, Rogers JG, Bateman JF: The clinical features of three babies with osteogenesis imperfecta due to the substitution of glycine by arginine in the pro-α1(I) chain of type I procollagen. J Med Genet 27:228-235, 1990.
46. Cole WG, Dalgleish R: Perinatal lethal osteogenesis imperfecta. J Med Genet 32:284-289, 1995.
47. Cole WG, Evans R, Sillence DO: The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro-α1(I) chain of type I procollagen. J Med Genet 24:698-701, 1987.
48. Cole WG, Jaenisch R, Bateman JF: New insights into the molecular pathology of osteogenesis imperfecta. Q J Med 70:1-4, 1989.
49. Cole WG, Hall RK, Rogers JF: The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine-997 by serine in the α1(II) chain of type II collagen. J Med Genet 30:27-35, 1993.
50. Cole WG, Kirby DM: Urinary free amino acids in osteogenesis imperfecta. Bone 7:13-16, 1986.
51. Cole WG, Lam TP: Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III due to the substitution of glycine 1006 by alanine in the pro-α2(I) chain of type I procollagen. J Med Genet 33:193-196, 1996.
52. Cole WG, Patterson E, Bonadio J, Campbell PE, Fortune DW: The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro-α1(I) chain of type I procollagen. J Med Genet 29:112-118, 1992.
53. Dahl H-HM, Lamande SR, Cotton RGH, Cole WG, Bateman JF: A rapid chemical cleavage method for the detection and localization of base changes in RNA and DNA. Biotechnology Hum Genet Predisposition Dis 126:209-218, 1990.
54. Denholm L, Cole WG: Heritable bone fragility, joint laxity and dysplastic dentin in Friesian (Holstein) calves: A bovine syndrome of osteogenesis imperfecta. Aust Vet J 60:9-17, 1983.
55. Hall RMO, Henning RD, Brown TCK, Cole WG: Anaesthesia for children with osteogenesis imperfecta - A review covering 30 years and 266 anaesthetics. Paediatr Anaesth 2:115-121, 1992.
56. Harley VR, Chan D, Rogers JG, Cole WG: Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients. J Inherit Metab Dis 13:219-226, 1990.
57. Lamande SR, Chessler SD, Golub SB, et al: Endoplasmic-reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the proα1(I) chain carboxyl-terminal propeptide which impair subunit assembly. J Biol Chem 270:8642-8649, 1995.
58. Lamande SR, Dahl H-HM, Cole WG, Bateman JF: Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. J Biol Chem 264: 15809-15812, 1989.
59. Lu J, Costa T, Cole WG: A novel G1006A substitution in the α2(I) chain of type I collagen produces osteogenesis imperfecta type III. Hum Mutat 5: 175-178, 1995.
60. Marini C, Lewis MB, Wang Q, Chen KJ, Orrison BM: Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. J Biol Chem 268:2667-2673, 1993.
61. Mottes M, Gomez Lira MM, Valu M, et al: Paternal mosaicism for a COL1A1 dominant mutation (α1 Ser-415) causes recurrent osteogenesis imperfecta. Hum Mutat 2:196-204, 1993.
62. Quelch KJ, Cole WG, Melick RA: Non-collagenous proteins in normal and pathological human bone. Calcif Tissue Int 36:545-549, 1984.
63. Ramshaw JAM, Bateman JF, Cole WG: Precipitation of collagens by polyethylene glycols. Anal Biochem 141:361-365, 1984.
64. Sillence DO, Barlow KK, Cole WG, et al: Osteogenesis imperfecta type III delineation of the phenotype with reference to genetic heterogeneity. Am J Hum Genet 23:821-832, 1986.
65. Sillence DO, Chiodo AA, Campbell PE, Cole WG: Ehlers-Danlos syndrome type IV: Phenotypic consequences of a splicing mutation in one COL3A1 allele. J Med Genet 28:840-845, 1991.
66. Sillence DO, Senn A, Danks DM: Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101-116, 1979.
67. Stacey A, Bateman JF, Choi T, et al: Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene. Nature 332:131-136, 1988.
68. Weil D, D'Alessio M, Ramirez F, et al: A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. EMBO J 8:1705-1710, 1989.
69. Willing MC, Deschenes SP, Scott DA, et al: Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 55:638-647, 1994.