Abstract
In this article we report the characterization of the molecular lesion in a patient with Ehlers-Danlos syndrome Type VII and provide evidence that a de novo substitution of the last nucleotide of exon 6 in one allele of the pro-α2(I) collagen gene produces normally spliced mRNA and transcripts from which exon 6 sequences have been outspliced as well. Unexpectedly, the expression of the alternative splicing was found to be temperature-dependent, for missplicing in cellula is effectively abolished at 31°C and gradually increases to 100% at 39°C. In contrast, in a similar patient harboring a substitution in the obligatory GT dinucleotide of the 5' splice site of intron 6, complete out-splicing of exon 6 sequences was found at all temperatures.
Original language | English (US) |
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Pages (from-to) | 16804-16809 |
Number of pages | 6 |
Journal | Journal of Biological Chemistry |
Volume | 264 |
Issue number | 28 |
State | Published - 1989 |
Externally published | Yes |
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Cell Biology