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, Mary Wirtz, R. W. Glanville, D. W. Hollister

Research output: Contribution to journalArticle

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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 - 1989
Externally publishedYes

Fingerprint

Ehlers-Danlos Syndrome
Fibroblasts
Exons
Collagen
Defects
Temperature
Substitution reactions
RNA Splice Sites
Alternative Splicing
Introns
Nucleotides
Genes
Alleles
Messenger RNA

ASJC Scopus subject areas

  • Biochemistry

Cite this

Weil, D., D'Alessio, M., Ramirez, F., Steinmann, B., Wirtz, M., 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.

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome Type VII. / Weil, D.; D'Alessio, M.; Ramirez, F.; Steinmann, B.; Wirtz, Mary; Glanville, R. W.; Hollister, D. W.

In: Journal of Biological Chemistry, Vol. 264, No. 28, 1989, p. 16804-16809.

Research output: Contribution to journalArticle

Weil, D, D'Alessio, M, Ramirez, F, Steinmann, B, Wirtz, M, Glanville, RW & Hollister, DW 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, vol. 264, no. 28, pp. 16804-16809.
Weil, D. ; D'Alessio, M. ; Ramirez, F. ; Steinmann, B. ; Wirtz, Mary ; Glanville, R. W. ; Hollister, D. W. / Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome Type VII. In: Journal of Biological Chemistry. 1989 ; Vol. 264, No. 28. pp. 16804-16809.
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