Article
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains.
Matrix biology : journal of the International Society for Matrix Biology - 1 Feb 2000
Slayton R L, Deschenes S P, Willing M C
Abstract excerpt
Osteogenesis imperfecta (OI) is a heterogeneous disorder of type I collagen resulting in varying degrees of severity. The mildest form of OI (Type I) is associated with bone fragility, normal or near normal stature and blue sclerae. All forms of OI are the result of mutations in COL1A1 or COL1A2, the genes that encode the proalpha1(I) and proalpha2(I) chains of type I collagen, respectively. Mutations identified...
Topics
- Cell Nucleus
- Cells, Cultured
- Codon, Nonsense
- Codon, Terminator
- Exons
- Humans
- Mutation
- Osteogenesis Imperfecta
- Procollagen
- RNA, Heterogeneous Nuclear
- RNA, Messenger