Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
CS Chu, BC Trapnell, S Curristin, GR Cutting… - Nature …, 1993 - nature.com
CS Chu, BC Trapnell, S Curristin, GR Cutting, RG Crystal
Nature genetics, 1993•nature.comVariable in–frame skipping of exon 9 in cystic fibrosis transmembrane conductance
regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To
explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood
leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an
inverse relationship between the length of the polythymidine tract at the exon 9 splice
branch/acceptor site and the proportion of exon 9− CFTR mRNA transcripts. These results …
regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To
explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood
leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an
inverse relationship between the length of the polythymidine tract at the exon 9 splice
branch/acceptor site and the proportion of exon 9− CFTR mRNA transcripts. These results …
Abstract
Variable in–frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To explore the genetic basis of this event, we evaluated respiratory epithelial cells and blood leukocytes from 124 individuals (38 with cystic fibrosis (CF), 86 without CF). We found an inverse relationship between the length of the polythymidine tract at the exon 9 splice branch/acceptor site and the proportion of exon 9− CFTR mRNA transcripts. These results strongly indicate a genetic basis in vivo modulating post–transcriptional processing of CFTR mRNA transcripts.
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