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. 1985 Jun;22(3):182–186. doi: 10.1136/jmg.22.3.182

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

A F Grobler-Rabie, D K Brebner, S Vandenplas, G Wallis, R Dalgleish, R E Kaufman, A J Bester, C G Mathew, C D Boyd
PMCID: PMC1049422  PMID: 2409282

Abstract

The human pro alpha 2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro alpha 2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bernard M. P., Myers J. C., Chu M. L., Ramirez F., Eikenberry E. F., Prockop D. J. Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene. Biochemistry. 1983 Mar 1;22(5):1139–1145. doi: 10.1021/bi00274a023. [DOI] [PubMed] [Google Scholar]
  2. Boehm C. D., Antonarakis S. E., Phillips J. A., 3rd, Stetten G., Kazazian H. H., Jr Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia. N Engl J Med. 1983 May 5;308(18):1054–1058. doi: 10.1056/NEJM198305053081803. [DOI] [PubMed] [Google Scholar]
  3. Bornstein P., Sage H. Structurally distinct collagen types. Annu Rev Biochem. 1980;49:957–1003. doi: 10.1146/annurev.bi.49.070180.004521. [DOI] [PubMed] [Google Scholar]
  4. Botha M. C. Blood group gene frequencies. An indication of the genetic constitution of population samples in Cape Town. Am J Roentgenol Radium Ther Nucl Med. 1972 May;115(1 Suppl):1–27. [PubMed] [Google Scholar]
  5. Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
  6. Breitkreutz D., Diaz de Leon L., Paglia L., Zeichner M., Wilczek J., Stern R. The synthesis of presumptive procollagen messenger ribonucleic acid in the calvaria of the developing chick embryo. Biochim Biophys Acta. 1978 Feb 16;517(2):349–359. doi: 10.1016/0005-2787(78)90201-0. [DOI] [PubMed] [Google Scholar]
  7. Byers P. H., Shapiro J. R., Rowe D. W., David K. E., Holbrook K. A. Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest. 1983 Mar;71(3):689–697. doi: 10.1172/JCI110815. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Chu M. L., Williams C. J., Pepe G., Hirsch J. L., Prockop D. J., Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature. 1983 Jul 7;304(5921):78–80. doi: 10.1038/304078a0. [DOI] [PubMed] [Google Scholar]
  9. Chu M. L., de Wet W., Bernard M., Ding J. F., Morabito M., Myers J., Williams C., Ramirez F. Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 1984 Jul 26-Aug 1Nature. 310(5975):337–340. doi: 10.1038/310337a0. [DOI] [PubMed] [Google Scholar]
  10. Dalgleish R., Trapnell B. C., Crystal R. G., Tolstoshev P. Copy number of a human type I alpha 2 collagen gene. J Biol Chem. 1982 Nov 25;257(22):13816–13822. [PubMed] [Google Scholar]
  11. Furthmayr H., Wiedemann H., Timpl R., Odermatt E., Engel J. Electron-microscopical approach to a structural model of intima collagen. Biochem J. 1983 May 1;211(2):303–311. doi: 10.1042/bj2110303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Henderson A. S., Myers J. C., Ramirez F. Localization of the human 2(I) collagen gene (COL1A2) to chromosome 7q22. Cytogenet Cell Genet. 1983;36(3):586–587. doi: 10.1159/000131978. [DOI] [PubMed] [Google Scholar]
  13. Jeffreys A. J., Flavell R. A. A physical map of the DNA regions flanking the rabbit beta-globin gene. Cell. 1977 Oct;12(2):429–439. doi: 10.1016/0092-8674(77)90119-2. [DOI] [PubMed] [Google Scholar]
  14. Junien C., Weil D., Myers J. C., Van Cong N., Chu M. L., Foubert C., Gross M. S., Prockop D. J., Kaplan J. C., Ramirez F. Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet. 1982 May;34(3):381–387. [PMC free article] [PubMed] [Google Scholar]
  15. Miller E. J., Gay S. Collagen: an overview. Methods Enzymol. 1982;82(Pt A):3–32. doi: 10.1016/0076-6879(82)82058-2. [DOI] [PubMed] [Google Scholar]
  16. Myers J. C., Chu M. L., Faro S. H., Clark W. J., Prockop D. J., Ramirez F. Cloning a cDNA for the pro-alpha 2 chain of human type I collagen. Proc Natl Acad Sci U S A. 1981 Jun;78(6):3516–3520. doi: 10.1073/pnas.78.6.3516. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Myers J. C., Dickson L. A., de Wet W. J., Bernard M. P., Chu M. L., Di Liberto M., Pepe G., Sangiorgi F. O., Ramirez F. Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem. 1983 Aug 25;258(16):10128–10135. [PubMed] [Google Scholar]
  18. Pope F. M., Cheah K. S., Nicholls A. C., Price A. B., Grosveld F. G. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen. Br Med J (Clin Res Ed) 1984 Feb 11;288(6415):431–434. doi: 10.1136/bmj.288.6415.431. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Prockop D. J., Kivirikko K. I., Tuderman L., Guzman N. A. The biosynthesis of collagen and its disorders (second of two parts). N Engl J Med. 1979 Jul 12;301(2):77–85. doi: 10.1056/NEJM197907123010204. [DOI] [PubMed] [Google Scholar]
  20. Sage H., Trüeb B., Bornstein P. Biosynthetic and structural properties of endothelial cell type VIII collagen. J Biol Chem. 1983 Nov 10;258(21):13391–13401. [PubMed] [Google Scholar]
  21. Skolnick M. H., White R. Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's). Cytogenet Cell Genet. 1982;32(1-4):58–67. doi: 10.1159/000131687. [DOI] [PubMed] [Google Scholar]
  22. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  23. Tajima S., Ting J. P., Pinnell S. R., Kaufman R. E. Isolation and characterization of a human pro alpha 2(I) collagen gene segment. J Invest Dermatol. 1984 Mar;82(3):265–269. doi: 10.1111/1523-1747.ep12260213. [DOI] [PubMed] [Google Scholar]
  24. Tsipouras P., Myers J. C., Ramirez F., Prockop D. J. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest. 1983 Oct;72(4):1262–1267. doi: 10.1172/JCI111082. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Vandenplas S., Wiid I., Grobler-Rabie A., Brebner K., Ricketts M., Wållis G., Bester A., Boyd C., Måthew C. Blot hybridisation analysis of genomic DNA. J Med Genet. 1984 Jun;21(3):164–172. doi: 10.1136/jmg.21.3.164. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Williams C. J., Prockop D. J. Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. J Biol Chem. 1983 May 10;258(9):5915–5921. [PubMed] [Google Scholar]
  27. de Wet W. J., Pihlajaniemi T., Myers J., Kelly T. E., Prockop D. J. Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta. J Biol Chem. 1983 Jun 25;258(12):7721–7728. [PubMed] [Google Scholar]

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