Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta

R. J. Wenstrup, L. W. Lever, C. L. Phillips, Leigh Quarles

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Although virtually all mutations that result in osteogenesis imperfecta (OI) affect the genes that encode the chains of type I procollagen, the effects of mutations in the COL1A2 gene have received less attention than those in the COL1A1 gene. We have characterized mutations in 4 families that give rise to different OI phenotypes. In three families substitutions of glycine residues by cysteine in the triple helical domain (a single example at position 259 and 2 families in which substitution of glycine at 646 by cysteine) have been identified, and in the fourth a G for A transition at position +4 in intron 33 led to use of an alternative splice site and inclusion of 6 amino acids (val-gly-arg-ile-leu-phe) between residues 585 and 586 of the normal triple helix. The relation between position of substitution of glycine by cysteine in the COL1A2 gene does not follow the pattern developed in the COL1A1 gene. To determine how COL1A2 mutations produce OI phenotypes, we have produced a full-length mouse cDNA into which we plan to place mutations and examine their effects in stably transfected osteogenic cells and in transgenic animals.

Original languageEnglish (US)
Pages (from-to)228-232
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume45
Issue number2
DOIs
StatePublished - 1993
Externally publishedYes

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Osteogenesis Imperfecta
Collagen Type I
Mutation
Glycine
Cysteine
Genes
Phenotype
RNA Splice Sites
Genetically Modified Animals
Introns
Complementary DNA
alpha 2(I) collagen
Amino Acids

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. / Wenstrup, R. J.; Lever, L. W.; Phillips, C. L.; Quarles, Leigh.

In: American Journal of Medical Genetics, Vol. 45, No. 2, 1993, p. 228-232.

Research output: Contribution to journalArticle

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