A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia
- National Public Health Inst., Helsinki (Finland)
- Univ. of Oulu (Finland)
- Helsinki Univ. Central Hospital (Finland)
Type II collagen is coded by a large gene (COL2A1) consisting of 54 exons on chromosome 12. During the past few years several cartilage disorders have been linked to this gene, and some specific nucleotide changes have been identified in patients. In a spondyloepiphyseal form of chondrodysplasia, the three mutations found so far are all in exon 48 in the region coding for the carboxyl-terminal end of the triple helix. Since folding of the type II collagen polypeptides to the triple helix is initiated from the carboxyl-terminal end, it has been suggested that mutations in this region typically result in severe cartilage diseases. Here the authors report a novel mutation located in the area coding for the amino-terminal part of the triple helix in a sporadic patient with spondyloepiphyseal dysplasia (SED). The mutation, a substitution of G[sup 1063] to A, which results in the conversion of Gly[sup 154] to Arg, was identified using exon-specific amplification of genomic DNA and subsequent analyses with denaturing gradient gel electrophoresis and single-strand conformation polymorphism. The substitution was not found in any other SED patient in Finland. This novel mutation demonstrates that amino acid substitutions in the amino-terminal part of the type II collagen triple helix can also result in SED. 19 refs., 2 figs., 1 tab.
- OSTI ID:
- 6082605
- Journal Information:
- Genomics; (United States), Vol. 16:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
CARTILAGE
DISEASES
COLLAGEN
GENE MUTATIONS
VERTEBRAE
DNA HYBRIDIZATION
ELECTROPHORESIS
HUMAN CHROMOSOME 12
ANIMAL TISSUES
BODY
CHROMOSOMES
CONNECTIVE TISSUE
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PROTEINS
SCLEROPROTEINS
SKELETON
TISSUES
550400* - Genetics