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. 1986 Aug;83(16):6045–6047. doi: 10.1073/pnas.83.16.6045

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

D H Cohn, P H Byers, B Steinmann, R E Gelinas
PMCID: PMC386434  PMID: 3016737

Abstract

We have characterized a mutation in a pro alpha 1(I) procollagen gene (COL1A1) that results in lethal (type II) osteogenesis imperfecta. The mutation is a single base change that results in a cysteine-for-glycine substitution at position 988 of the triple-helical portion of half of the alpha 1(I) chains of type I collagen. The mutation thus disrupts the (Gly-Xaa-Yaa)n pattern necessary for triple-helix formation, where Xaa and Yaa are other amino acids. These experiments establish the minimal mutation in a type I collagen gene capable of producing lethal disease, and the lethality demonstrates a selective mechanism for the stringent maintenance of the collagen gene structure.

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Selected References

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

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