Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Details

Serval ID
serval:BIB_E1D05B0DDA56
Type
Article: article from journal or magazin.
Collection
Publications
Title
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
Journal
Journal of Biological Chemistry
Author(s)
Vissing H., D'Alessio M., Lee B., Ramirez F., Byers P.H., Steinmann B., Superti-Furga A.
ISSN
0021-9258 (Print)
ISSN-L
0021-9258
Publication state
Published
Issued date
1991
Volume
266
Number
8
Pages
5244-5248
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S. Publication Status: ppublish
Abstract
We have characterized a deletion of approximately 9 kilobases which spans from intron 33 to exon 48 of one pro-alpha 1 (III) collagen allele in a patient with Ehlers-Danlos syndrome type IV. The mutation results in the production of an in-frame species of mRNA which lacks the sequences corresponding to residues 595-1,008 of the triple-helical domain. Thus, half of the pro-alpha 1 (III) chains synthesized by the patient's fibroblasts are nearly 30% shorter than normal. The procollagen III molecules composed of either three normal length or three shortened chains are thermally stable and efficiently secreted. In contrast, the procollagen III molecules that contain one or two shortened chains are unstable and are not secreted. Failure to secrete unstable molecules and a residual functional role of the shortened but stable homotrimers may explain the somewhat milder phenotype of this individual compared with that of another Ehlers-Danlos type IV patient bearing a deletion of similar size in the amino-terminal portion of the alpha 1 (III) collagen chain.
Keywords
Chromosome Deletion, Collagen/metabolism, DNA/genetics, Ehlers-Danlos Syndrome/genetics, Electrophoresis, Gel, Two-Dimensional, Exons, Humans, Mutation, Pepsin A, Polymerase Chain Reaction, Procollagen/genetics, RNA, Messenger/genetics, Restriction Mapping
Pubmed
Web of science
Create date
14/03/2011 16:14
Last modification date
20/08/2019 16:05
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