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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

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.[1]

References

  1. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Chu, C.S., Trapnell, B.C., Curristin, S., Cutting, G.R., Crystal, R.G. Nat. Genet. (1993) [Pubmed]
 
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