Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.
作者： D Weil , M D'Alessio , F Ramirez , B Steinmann , M K Wirtz
DOI: 10.1016/S0021-9258(19)84777-4
关键词: RNA splicing 、 Exon 、 Intron 、 Messenger RNA 、 Alternative splicing 、 Biology 、 Allele 、 Molecular biology 、 Gene 、 Splice site mutation
摘要: Abstract In this article we report the characterization of molecular lesion in a patient with Ehlers-Danlos syndrome Type VII and provide evidence that de novo substitution last nucleotide exon 6 one allele pro-alpha 2(I) collagen gene produces normally spliced mRNA transcripts from which sequences have been outspliced as well. Unexpectedly, expression alternative splicing was found to be temperature-dependent, for missplicing cellula is effectively abolished at 31 degrees C gradually increases 100% 39 C. contrast, similar harboring obligatory GT dinucleotide 5' splice site intron 6, complete outsplicing all temperatures.
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