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Nucleic Acids Res. 1997 January 1; 25(1): 181–187.
PMCID: PMC146420

The human type I collagen mutation database.

Abstract

Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two alpha1(I) chains and one alpha2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Brown JC, Timpl R. The collagen superfamily. Int Arch Allergy Immunol. 1995 Aug;107(4):484–490. [PubMed]
  • Engel J, Prockop DJ. The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper. Annu Rev Biophys Biophys Chem. 1991;20:137–152. [PubMed]
  • Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem. 1995;64:403–434. [PubMed]
  • Vuorio E, de Crombrugghe B. The family of collagen genes. Annu Rev Biochem. 1990;59:837–872. [PubMed]
  • Pihlajaniemi T, Dickson LA, Pope FM, Korhonen VR, Nicholls A, Prockop DJ, Myers JC. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem. 1984 Nov 10;259(21):12941–12944. [PubMed]
  • Chu ML, Gargiulo V, Williams CJ, Ramirez F. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem. 1985 Jan 25;260(2):691–694. [PubMed]
  • Hawkins JR, Superti-Furga A, Steinmann B, Dalgleish R. A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta. J Biol Chem. 1991 Nov 25;266(33):22370–22374. [PubMed]
  • D'Alessio M, Bernard M, Pretorius PJ, de Wet W, Ramirez F, Pretorious PJ. Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1) Gene. 1988 Jul 15;67(1):105–115. [PubMed]
  • Westerhausen A, Constantinou CD, Pack M, Peng MZ, Hanning C, Olsen AS, Prockop DJ. Completion of the last half of the structure of the human gene for the Pro alpha 1 (I) chain of type I procollagen (COL1A1). Matrix. 1991 Dec;11(6):375–379. [PubMed]
  • Byers PH. Brittle bones--fragile molecules: disorders of collagen gene structure and expression. Trends Genet. 1990 Sep;6(9):293–300. [PubMed]
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101–116. [PMC free article] [PubMed]
  • Cole WG, Dalgleish R. Perinatal lethal osteogenesis imperfecta. J Med Genet. 1995 Apr;32(4):284–289. [PMC free article] [PubMed]
  • Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J Med Genet. 1993 Jun;30(6):492–496. [PMC free article] [PubMed]
  • Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature. 1983 Jul 7;304(5921):78–80. [PubMed]
  • Barsh GS, Roush CL, Bonadio J, Byers PH, Gelinas RE. Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1985 May;82(9):2870–2874. [PubMed]
  • Phillips CL, Shrago-Howe AW, Pinnell SR, Wenstrup RJ. A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. J Clin Invest. 1990 Nov;86(5):1723–1728. [PMC free article] [PubMed]
  • Westerhausen AI, Constantinou CD, Prockop DJ. A sequence polymorphism in the 3'-nontranslated region of the pro alpha 1 chain of type I procollagen. Nucleic Acids Res. 1990 Aug 25;18(16):4968–4968. [PMC free article] [PubMed]
  • Sokolov BP, Constantinou CD, Tsuneyoshi T, Zhuang JP, Prockop DJ. G to A polymorphism in exon 45 of the COL1A1 gene. Nucleic Acids Res. 1991 Aug 11;19(15):4302–4302. [PMC free article] [PubMed]
  • Strobel D, Tsuneyoshi T, Kuivaniemi H, Tromp G, Spotila LD, Baldwin CT, Constantinou CD, Ganguly A, Sereda L, Sokolov BP, et al. Three new polymorphisms at the COL1A2 locus. Matrix. 1992 Apr;12(2):87–91. [PubMed]
  • Constantinou CD, Spotila LD, Zhuang J, Sereda L, Hanning C, Prockop DJ. PvuII polymorphism at the COL1A2 locus. Nucleic Acids Res. 1990 Sep 25;18(18):5577–5577. [PMC free article] [PubMed]

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