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Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.
Am J Med Genet. 1993 Jan 15; 45(2):228-32.AJ

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.

Authors+Show Affiliations

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8456807

Citation

Wenstrup, R J., et al. "Mutations in the COL1A2 Gene of Type I Collagen That Result in Nonlethal Forms of Osteogenesis Imperfecta." American Journal of Medical Genetics, vol. 45, no. 2, 1993, pp. 228-32.
Wenstrup RJ, Lever LW, Phillips CL, et al. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. Am J Med Genet. 1993;45(2):228-32.
Wenstrup, R. J., Lever, L. W., Phillips, C. L., & Quarles, L. D. (1993). Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. American Journal of Medical Genetics, 45(2), 228-32.
Wenstrup RJ, et al. Mutations in the COL1A2 Gene of Type I Collagen That Result in Nonlethal Forms of Osteogenesis Imperfecta. Am J Med Genet. 1993 Jan 15;45(2):228-32. PubMed PMID: 8456807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. AU - Wenstrup,R J, AU - Lever,L W, AU - Phillips,C L, AU - Quarles,L D, PY - 1993/1/15/pubmed PY - 1993/1/15/medline PY - 1993/1/15/entrez SP - 228 EP - 32 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8456807/Mutations_in_the_COL1A2_gene_of_type_I_collagen_that_result_in_nonlethal_forms_of_osteogenesis_imperfecta_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=2&spage=228 DB - PRIME DP - Unbound Medicine ER -