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Alternative splicing of the human CFTR gene was studied previously and shown not to generate functional CFTR-like chloride ion channels. However, it is possible that some of the alternatively spliced forms may encode CFTR proteins with different functions. The ovine CFTR gene is very similar to the human gene and has regulatory mechanisms in common. To evaluate whether the alternatively spliced forms of human CFTR are conserved in the sheep, the splice forms of the ovine CFTR gene were examined. A transcript lacking exon 9 was observed in the sheep, but unlike the human exon 9-transcript, it did not result from a polymorphic intron 8 splice acceptor site. Sheep CFTR transcripts lacking exon 17b were seen and have also been described in the human. Transcripts lacking 98 bp of the 5' end of exon 13, the whole of exon 13, and both exons 14b and 15 respectively were seen in sheep but have not been reported in human. Splice site donor and acceptor sequences were isolated, and alternative transcripts were shown to result from a combination of aberrant sites and competition of 5' splice donor sequences.

Original publication

DOI

10.1007/s00335-003-3013-1

Type

Journal article

Journal

Mamm genome

Publication Date

11/2003

Volume

14

Pages

778 - 787

Keywords

Alternative Splicing, Animals, Base Sequence, Blotting, Southern, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Primers, Exons, Genetic Vectors, Humans, Molecular Sequence Data, Polymerase Chain Reaction, RNA Splice Sites, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Sheep