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Article

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

The Journal of clinical investigation - 1 Oct 1993

Stover M L, Primorac D, Liu S C, McKinstry M B, Rowe D W

Abstract excerpt

Osteogenesis imperfecta (OI) type I is the mildest form of heritable bone fragility resulting from mutations within the COL1A1 gene. We studied fibroblasts established from a child with OI type I and demonstrated underproduction of alpha 1 (I) collagen chains and alpha 1 (I) mRNA. Indirect RNase protection suggested two species of alpha 1 (I) mRNA, one of which was not collinear with fully spliced alpha 1 (I)...

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Identifiers

PMID: 8408653
DOI: 10.1172/JCI116794
PMCID: PMC288367

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Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.PMID 8408653Read ↗

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.Semantic proximity Read ↗

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.Semantic proximity Read ↗

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.Semantic proximity Read ↗

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.Semantic proximity Read ↗

Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.Semantic proximity Read ↗

Molecular heterogeneity in osteogenesis imperfecta type I.Semantic proximity Read ↗

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.Semantic proximity Read ↗

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.Semantic proximity Read ↗

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Semantic proximity Read ↗

Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain.Semantic proximity Read ↗

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.Semantic proximity Read ↗

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