CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta

Article Abstract:

The Cartilage Association Protein (CRTAP) which copurifies with a collagen prolyl 3-hydroxylase activity is involved in osteogenesis imperfecta and mutations are associated with brittle bones in patients with a spectrum of mild to severe recessive osteogenesis imperfecta. Hence altered CRTAP function and prolyl 3-hydroxylation contribute to the connective tissue disease.

Science & research, Analysis, Causes of, Hydroxylation

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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

Article Abstract:

Bovine dermatosparaxis and human Ehlers-Danlos syndrome (EDS) type VIIC, a recessively inherited connective-tissue disorder, are discussed in relation to the finding that they are both caused by mutations in the procollagen I N-proteinase (pNPI) gene and the resulting lack of activity of pNPI. Bovine cDNA was used to isolate human pNPI to identify the mutations.

United Kingdom, Belgium, Cattle

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Redefinition of exon 7 in the COL1A1 (ital) gene of Type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation

Article Abstract:

Identification of a point mutation in the 5' donor sequence of intron 8 of the Type I collagen gene, COL1A1 (ital) in a form of osteogenesis imperfecta, and unexpected splice outcomes, among them redefinition of the upstream exon 7, are discussed. Implications about the influence of intron splice order on outcome of splice-site mutation were seen.

Gene mutations, Gene mutation, Collagen, RNA splicing, Introns

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