Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.

Abstract excerpt

In the human CFTR only the rare exon 4- splice variant is conserved in mice. We have discovered two novel murine variants, exon 5- and exon 11b+. The exon 5- variant represents up to 40% of mRNA in all CFTR-expressing tissues and leaves the reading frame intact. The exon 11b+ variant inserts a novel exon between exons 11 and 12 with expression restricted to the testis. Two variants of 11b have been found and both...

Topics

• Alternative Splicing
• Amino Acid Sequence
• Animals
• Base Sequence
• Chloride Channels
• Conserved Sequence
• Cystic Fibrosis
• Cystic Fibrosis Transmembrane Conductance Regulator
• Exons
• Genetic Variation