Biochemical screening of type I collagen in osteogenesis imperfecta: Detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis

Journal of Medical Genetics

Volumn 43, Issue 8, 2006, Pages 685-690

  Cabral, W A ^a   Milgrom, S ^a   Letocha, A D ^a   Moriarty, E ^a   Marini, Joan C ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; GLYCINE;

ADOLESCENT; ADULT; ALPHA CHAIN; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; SUPPLEMENTATION;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; ELECTROPHORESIS; FEMALE; GLYCINE; HUMANS; MALE; OSTEOGENESIS IMPERFECTA; PHENOTYPE;

EID: 33747065556     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.040493     Document Type: Article

References (25)

1. Willing MC, Deschenes SP, Scott DA, Byers PH, Slayton RL, Pitts SH, Arikat H, Roberts EJ. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55(4):638-47.
2. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 1995;64:403-34.
3. Byers PH, Cole WG. Osteogenesis imperfecta. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders. 2nd ed. New York: Wiley-Liss, 2002:385-430.
4. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16(2):101-16.
5. Marini JC. Osteogenesis imperfecta. In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson textbook of pediatrics. 17th ed. Philadelphia: Saunders, 2004:2336-8.
6. Grange DK, Gottesman GS, Lewis MB, Marini JC. Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids. Nucleic Acids Res 1990;18(14):4227-36.
7. Saleeba JA, Ramus SJ, Cotton RG. Complete mutation detection using unlabeled chemical cleavage. Hum Mutat 1992;1(1):63-9.
8. Bateman JF, Lamande SR, Hannagan M, Moeller I, Dahl HH, Cole WG. Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta. Am J Med Genet 1993;45(2):233-40.
9. Mackay K, Byers PH, Dalgleish R. An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Hum Mol Genet 1993;2(8):1155-60.
10. Giunta C, Steinmann B. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat 2000;16(2):176-7.
11. Biggin A, Holman K, Brett M, Bennetts B, Ades L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 2004;23(1):99.
12. Korkko J, Ala-Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop DJ. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-alfele mutations. Am J Hum Genet 1998;62(1):98-110.
13. Ganguly A. An update on conformation sensitive gel electrophoresis. Hum Mutat 2002;19(4):334-42.
14. Bonadio J, Holbrook KA, Gelinas RE, Jacob J, Byers PH. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem 1985;260(3):1734-42.
15. Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162(1):156-9.
16. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239(4839):487-91.
17. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A 1977;74(12):5463-7.
18. Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem 2005;280(19):19259-69.
19. Mayer SA, Rubin BS, Starman BJ, Byers PH. Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology 1996;47(2):552-6.
20. Persikov AV, Ramshaw JA, Brodsky B. Prediction of collagen stability from amino acid sequence. J Biol Chem 2005;280(19):19343-9.
21. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, Hyland JC, Körkkö J, Prockop DJ, De Paepe A, Coucke P, Symoens S, Glorieux FH, Roughley PJ, Lund AM, Kuurila-Svahn K, Hartikka H, Cohn DH, Krakow D, Mottes M, Schwarze U, Chen D, Yang K, Kuslich C, Troendle J, Dalgleish R, Byers P. Consortium for Osteogenesis Imperfecta mutations database of glycine substitutions and exon skipping defects in the helical domain of type 1 collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human Mutat 2006 (accepted for publication).
22. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46(5):975-82.
23. Marlowe A, Pepin MG, Byers PH. Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet 2002;39(6):382-6.
24. Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17(6):559-70.
25. Cabral WA, Fertala A, Green LK, Korkko J, Forlino A, Marini JC. Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology. J Biol Chem 2002;277(6):4215-22.