Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome Type VII

D. Weil, M. D'Alessio, F. Ramirez, B. Steinmann, M. K. Wirtz, R. W. Glanville, D. W. Hollister

Research output: Contribution to journalArticle

67 Scopus citations

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 languageEnglish (US)
Pages (from-to)16804-16809
Number of pages6
JournalJournal of Biological Chemistry
Volume264
Issue number28
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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    Weil, D., D'Alessio, M., Ramirez, F., Steinmann, B., Wirtz, M. K., Glanville, R. W., & Hollister, D. W. (1989). Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome Type VII. Journal of Biological Chemistry, 264(28), 16804-16809.